| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fetal anomalies v1.254 | PSMF1 |
Zornitza Stark gene: PSMF1 was added gene: PSMF1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1 Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Review for gene: PSMF1 was set to GREEN Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex. Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.253 | VPS50 | Ain Roesley Publications for gene: VPS50 were set to PMID: 34037727 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.252 | SERPINA11 |
Ain Roesley gene: SERPINA11 was added gene: SERPINA11 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINA11 were set to 38831697 Phenotypes for gene: SERPINA11 were set to pericardial effusion; pleural effusion Review for gene: SERPINA11 was set to RED gene: SERPINA11 was marked as current diagnostic Added comment: 1 family with 2 fetuses. 1st fetus presented with isolated pericardial effusion and a TOP was opted. post mortem: mild subcutaneous edema with subtle facial dysmorphic features small gelatinous glistening cyst on the right pericardium. Bilateral pleural effusion and multiple similar cysts were noted on the lung surfaces 2nd fetus also presented with pleural and pericardial effusion and a TOP was opted post mortem findings were similar to fetus#1 homozygous nonsense variant in SERPINA11 was found p.(Tyr224*) Immunofluorescence of lung sections from fetus#1 and a gestation-matched fetus as a control demonstrated undetectable levels of SERPINA11 in the bronchiolar epithelium Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.248 | FUZ | Zornitza Stark Publications for gene: FUZ were set to 21840926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.244 | BCORL1 |
Zornitza Stark gene: BCORL1 was added gene: BCORL1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related Review for gene: BCORL1 was set to AMBER Added comment: Emerging evidence of disease association. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.242 | HOXD12 |
Zornitza Stark gene: HOXD12 was added gene: HOXD12 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HOXD12 were set to 38663984 Phenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342 Review for gene: HOXD12 was set to AMBER Added comment: Identified as a candidate gene in a large cohort due to enrichment of rare variants. PMID: 38663984 Around 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate. Cohort of over 1000 individuals, with several novel candidates identified. N-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot. Loss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.240 | PIP5K1C | Zornitza Stark Publications for gene: PIP5K1C were set to 17701898 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.228 | DISP1 | Zornitza Stark Publications for gene: DISP1 were set to 27363716; 19184110; 26748417; 23542665 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.224 | FRYL |
Ain Roesley gene: FRYL was added gene: FRYL was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FRYL were set to 38479391 Phenotypes for gene: FRYL were set to neurodevelopmental disorder MONDO:0700092, FRYL-related Review for gene: FRYL was set to AMBER gene: FRYL was marked as current diagnostic Added comment: 14 individuals, all de novo except 1x duo testing (not present in tested father) 5x missense + 8x fs/stopgain + 1x canonical splice 7/14 with cardiac anomalies Of interest to this panel: 1x tetralogy of fallot (TOF) with pulmonary atresia (PA), 2x dextrocardia, 1x hypoplastic left heart syndrome Other reported features AVSD, VSD, PDA Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.223 | SASS6 | Ain Roesley Publications for gene: SASS6 were set to 24951542; 30639237 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.222 | USP14 | Zornitza Stark Publications for gene: USP14 were set to PMID: 35066879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.216 | RBFOX2 |
Ain Roesley gene: RBFOX2 was added gene: RBFOX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBFOX2 were set to 26785492; 27670201; 27485310; 25205790; 35137168; 26785492; 37165897 Review for gene: RBFOX2 was set to AMBER gene: RBFOX2 was marked as current diagnostic Added comment: PMID: 37165897 1x 'splice altering' de novo in in an individual with HLSH + AVSD - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs). - PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492. - PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing. - PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS. - PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.214 | KDR | Ain Roesley Publications for gene: KDR were set to 34113005; 30232381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.212 | KDR | Ain Roesley edited their review of gene: KDR: Changed rating: GREEN; Changed publications: 34113005, 30232381, 28991257, 30232381; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.212 | KDR |
Ain Roesley gene: KDR was added gene: KDR was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KDR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KDR were set to 34113005; 30232381 Phenotypes for gene: KDR were set to Tetralogy of Fallot Added comment: PMID:30232381 5x families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del noted that all individuals were adults at time of assessment but known to have ToF and/or other CHD PMID:34113005; 1x family with 2 affecteds, Chet for 2x missense Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.211 | IRX4 |
Ain Roesley gene: IRX4 was added gene: IRX4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: IRX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRX4 were set to 21544582 Phenotypes for gene: IRX4 were set to Ventricular septal defect Review for gene: IRX4 was set to RED gene: IRX4 was marked as current diagnostic Added comment: Two individuals with novel missense variants identified in a large cohort in 2011. nothing new in punned Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.210 | HEY2 |
Ain Roesley gene: HEY2 was added gene: HEY2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: HEY2 were set to 32820247 Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms Review for gene: HEY2 was set to RED gene: HEY2 was marked as current diagnostic Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.208 | DOHH |
Ain Roesley gene: DOHH was added gene: DOHH was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOHH were set to 35858628 Phenotypes for gene: DOHH were set to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 Review for gene: DOHH was set to GREEN gene: DOHH was marked as current diagnostic Added comment: 4 families - 5 affecteds 1x cardiomyopathy at prenatal examination 4/5 presented with CHD post-natally - VSD, ASD, severe cardiomegaly, Shone syndrome with aortic coarctation; bicuspid aortic valve; tricuspid-valve insufficiency etc microcephaly was post-natal Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.206 | AMOTL1 |
Ain Roesley gene: AMOTL1 was added gene: AMOTL1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMOTL1 were set to 36751037 Phenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related Review for gene: AMOTL1 was set to GREEN gene: AMOTL1 was marked as current diagnostic Added comment: PMID: 36751037- 16 individuals from 12 families with orofacial clefting syndrome and het variants in AMOTL1. Many in 1 hotspot: 5 individuals from 3 families have R157C, 6 individuals from another 4 families have R157H, 1 has P160L, and another has Q161R. Out of this hostpaot- 1 with P368A, 1 with E507K, 1 with E579K. 7 are de novo. All but 2 have clefting, 7 are dysmorphic, 5 have hearing loss, 9 have CHD, 7 have tall stature, 6 have dev delay. Other features include liver disease, myopia, scoliosis and immune involvement. Another 2 families have been previously reported (described in the panelapp review below) with variants in this hotspot 1 has 2 individuals with R157C, the other has 1 individual with P160L. All hotspot are absent from gnomad v2. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.204 | AL117258.1 |
Ain Roesley gene: AL117258.1 was added gene: AL117258.1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AL117258.1 were set to 34903892 Phenotypes for gene: AL117258.1 were set to Heterotaxy; congenital heart defects Review for gene: AL117258.1 was set to GREEN gene: AL117258.1 was marked as current diagnostic Added comment: Gene also known as CIROP and LMLN2 Homozygous or compound heterozygous CIROP variants identified in 12 families with congenital heart defects associated with heterotaxy. Functional tests performed on Xenopus and zebrafish embryos showed that CIROP was essential for left side symmetry and is expressed in ciliated left–right organisers. Sources: Literature Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.201 | CELSR3 |
Zornitza Stark gene: CELSR3 was added gene: CELSR3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CELSR3 were set to 38429302 Phenotypes for gene: CELSR3 were set to Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Added comment: PMID: 38429302:12 affected individuals from 11 families reported with bi-allelic variants. Phenotype ranged from CNS anomalies (7/12), CNS and CAKUT (3/12) and CAKUT only (2/12). 8/12 has ID/DD. Only missense variants reported and 1 inframe variant. Functional studies done in zebrafish demonstrate similar structural anomalies of the developing pronephros and neuronal abnormalities to affected individuals Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.199 | HSPG2 | Ain Roesley Publications for gene: HSPG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.197 | THSD1 |
Zornitza Stark gene: THSD1 was added gene: THSD1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THSD1 were set to 33569873; 27895300 Phenotypes for gene: THSD1 were set to Lymphatic malformation 13, MIM# 620244 Review for gene: THSD1 was set to GREEN Added comment: PMID: 33569873 - 1 fetus with a homozygous PTC and nonimmune hydrops fetalis (NIHF), congenital heart disease and hemangiomas. FHx of 1/3 triplets with severe hydrops fetalis, not sequenced. - Paper reviews previous NIHF cases and reports another homozygous PTC in two families ( and a recurring homozygous missense (p.Cys206Tyr) in three families. PMID: 27895300- Mouse model has hydrocephaly with poor perfusion. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.193 | NEK1 | Zornitza Stark Publications for gene: NEK1 were set to 21211617; 22499340; 25492405; 28123176 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.190 | THOC2 | Zornitza Stark Publications for gene: THOC2 were set to 26166480; 32116545; 29851191; 32960281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.186 | DLG5 |
Zornitza Stark gene: DLG5 was added gene: DLG5 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLG5 were set to 32631816 Phenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauer syndrome, MIM#620703 Review for gene: DLG5 was set to GREEN Added comment: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.184 | CELSR1 | Ain Roesley Publications for gene: CELSR1 were set to 31215153; 31403174; 26855770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.182 | WDR44 |
Andrew Fennell gene: WDR44 was added gene: WDR44 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WDR44 were set to PMID: 38191484 Phenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308, WDR44-related Review for gene: WDR44 was set to GREEN Added comment: 11 male patients with 6 missense and 1 nonsense variant in WDR44 displaying a wide range of cognitive impairment and variable congenital anomalies associated with primary cilium dysfunction. All patients had learning difficulties with 8 labelled as intellectually disabled (mild-moderate). Other clinical features included anomalies of craniofacial, musculoskeletal, brain, renal and cardiac development. WDR44 is a negative regulator of ciliogenesis. Increased binding is hypothesised to underlie the pathogenicity of WDR44 variants identified in this cohort. Functional data supported impaired ciliogenesis initiation in patient fibroblasts and a zebrafish model. A zebrafish model recapitulated the human phenotype when morphants expressed WDR44 L668S, D669N, S764F, G782C, H839R, and R733* variants. Of note, D648G or N840S did not recapitulate the phenotype in the zebrafish model. The studies supported a GoF mechanism, but the authors could not rule out that LoF of WDR44 contributes to the ciliopathy-like phenotype observed, because protein expression data was only available for a limited number of patients. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.179 | MAX |
Rylee Peters gene: MAX was added gene: MAX was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to 38141607 Phenotypes for gene: MAX were set to Syndromic disease (MONDO:0002254), MAX-related Review for gene: MAX was set to GREEN Added comment: Three individuals who each share a recurrent de novo germline variant in the MAX gene, resulting in a p.Arg60Gln substitution in the loop of the b-HLH-LZ domain. Affected individuals have a complex disorder consisting primarily of macrocephaly, polydactyly, and delayed ophthalmic development. Other phenotypes reported include intellectual disability, perianal abscesses, pectus carinatum, hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae. Functional analysis of the p.Arg60Gln variant shows a significant increase in CCND2 protein and a more efficient heterodimerization with c-Myc resulting in an increase in transcriptional activity of c-Myc. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.179 | ZRSR2 |
Chris Ciotta gene: ZRSR2 was added gene: ZRSR2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZRSR2 were set to PMID: 38158857 Phenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related Review for gene: ZRSR2 was set to GREEN Added comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies. Six unrelated families with two truncating variants and functional studies: - p.(Gly404GlufsTer23): detected in one family with 2x affected males - p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.179 | CACHD1 |
Suliman Khan gene: CACHD1 was added gene: CACHD1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACHD1 were set to PMID: 38158856 Phenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder MONDO:0800439 Penetrance for gene: CACHD1 were set to unknown Review for gene: CACHD1 was set to GREEN Added comment: PMID: 38158856 - Six affected individuals from four unrelated families with homozygous CACHD1 variants (3 splice, 2 frameshift and 1 nonsense variant). Excluding the two fatal cases, all other were affected by syndromic neurodevelopmental abnormalities, multiple organ systems featuring global impairment of psychomotor development, dysmorphic facial features, genitourinary abnormalities, oculo-auricular and congenital malformation. Seizure was reported in one case. Whole exome sequencing identified bi-allelic loss of function variants in the CACHD1 gene. In vitro human neural models of CACHD1 depletion displayed dysregulated of Wnt signaling in the developing brain. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.178 | NUDT2 |
Lilian Downie gene: NUDT2 was added gene: NUDT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT2 were set to PMID: 38141063 Phenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy MIM#619844 Review for gene: NUDT2 was set to GREEN Added comment: 9 individuals with partial agenesis or hypoplasia of the corpus callosum Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.177 | CNOT2 |
Zornitza Stark gene: CNOT2 was added gene: CNOT2 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719 Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608 Review for gene: CNOT2 was set to GREEN Added comment: Congenital heart disease and poor growth may be detectable prenatally. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.167 | PKP2 |
Suliman Khan changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome. Sources: Literature; to: PMID: 30562116: reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.167 | PKP2 |
Suliman Khan changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome. Sources: Literature; to: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.167 | PKP2 |
Suliman Khan changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In cases, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome. Sources: Literature; to: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.167 | PKP2 |
Suliman Khan gene: PKP2 was added gene: PKP2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKP2 were set to PMID: 30562116; PMID: 35059364; PMID: 38050058 Phenotypes for gene: PKP2 were set to dilated cardiomyopathy; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction Penetrance for gene: PKP2 were set to unknown Review for gene: PKP2 was set to GREEN Added comment: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed. PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD). PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In cases, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consist to Wolff Parkinson-White syndrome. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.167 | WBP4 |
Lilian Downie gene: WBP4 was added gene: WBP4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WBP4 were set to PMID: 37425688 Phenotypes for gene: WBP4 were set to Neurodevelopmental disorder, MONDO:0700092, WBP4-related Review for gene: WBP4 was set to GREEN Added comment: 11 individuals, with dysmorphic ID 3 presented in utero 2x IUGR, 1x ventriculomegaly and polyhydramnios 5 with brain anomalies (corpus callosum and cortical) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.164 | TRIT1 |
Zornitza Stark gene: TRIT1 was added gene: TRIT1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIT1 were set to 36049610; 32088416 Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, MIM#617873 Review for gene: TRIT1 was set to GREEN Added comment: Presentations with IUGR reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.162 | CASP2 |
Zornitza Stark gene: CASP2 was added gene: CASP2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP2 were set to 37880421 Phenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related Review for gene: CASP2 was set to GREEN Added comment: 7 individuals from 5 families: - 4 families homozygous for PTC. - 1 family compound heterozygote for splice site + PTC. RNA studies indicate usage of 2 cryptic splice donor sites. 5/5 have ID/dev delay 1/5 seizures 2/5 hypotonia 3/5 Lissencephaly (pachygyria + cortical thickening) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.160 | MFN2 |
Andrew Fennell gene: MFN2 was added gene: MFN2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFN2 were set to PMID: 37804319 Phenotypes for gene: MFN2 were set to Mitochondrial disease, MONDO:0044970, MFN2-related Review for gene: MFN2 was set to AMBER Added comment: A single report of fetus with severe antenatal encephalopathy with lissencephaly, polymicrogyria, and cerebellar atrophy. The authors identified a homozygous in-frame deletion leading to exon 16 skipping and in-frame loss of 50 amino acids 13 (p.Gln574_Val624del). Functional evidence of mitochondrial dysfunction (clumping) and respiratory chain complex deficiencies. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.154 | PLS3 | Ain Roesley Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.150 | MYCN | Elena Savva Publications for gene: MYCN were set to 18470948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.148 | PPP1R13L | Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy; Cleft lip and palate to Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.146 | GNPNAT1 |
Zornitza Stark gene: GNPNAT1 was added gene: GNPNAT1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345 Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598 Review for gene: GNPNAT1 was set to AMBER Added comment: 3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.140 | LNPK |
Lilian Downie gene: LNPK was added gene: LNPK was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LNPK were set to PMID: 30032983, PMID:35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090 Review for gene: LNPK was set to GREEN Added comment: Moderate to severe ID, majority of patients 10/15 have period of regression Epilepsy (myoclonic frequently) Structural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy. Microcephaly, macrocephaly and normal head circumference described. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.140 | DBR1 |
Chern Lim gene: DBR1 was added gene: DBR1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 37656279 Phenotypes for gene: DBR1 were set to Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life Review for gene: DBR1 was set to AMBER gene: DBR1 was marked as current diagnostic Added comment: PMID: 37656279: - A homozygous missense as a founder recessive DBR1 variant in four consanguineous families. - Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life. - RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample. - Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant. - Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.139 | CUL3 |
Lucy Spencer gene: CUL3 was added gene: CUL3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CUL3 were set to 37665043 Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496) Review for gene: CUL3 was set to GREEN Added comment: PMID: 37665043 1 case study and a review of the literature. 5 patients with de novo variants (PTCs and missense) in CUL3 who have various cardiac phenotypes: atrial septal defects, left ventricular outflow tract obstruction. Hypertrophic right ventricle pulmonary atresia, and other congenital heart defects. 2 of these patients have a neurological phenotype as well, while the other three are not reported to have one (but at least one was a terminated pregnancy). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.138 | ATP5O |
Zornitza Stark gene: ATP5O was added gene: ATP5O was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5O were set to 35621276; 34954817 Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Review for gene: ATP5O was set to GREEN Added comment: Prenatal phenotypes reported (IUGR, CHD, oligohydramnios) Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.134 | PHF5A | Zornitza Stark Publications for gene: PHF5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.132 | PHF5A |
Daniel Flanagan gene: PHF5A was added gene: PHF5A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PHF5A were set to PMID: 37422718 Review for gene: PHF5A was set to GREEN Added comment: Nine subjects with congenital malformations, including hypospadias, growth abnormalities, and developmental delay who had de novo PHF5A variants. Prenatally, six subjects had intrauterine growth retardation. All subjects had motor and speech delay and developmental delay. Congenital abnormalities comprised hypospadias in three of four male subjects and heart defects, inguinal hernia, and sacral dimple in three subjects. Six of the nine subjects had short stature. Craniofacial dysmorphism is variable in the nine subjects, high forehead and preauricular skin tag(s) in five subjects. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.131 | SENP7 |
Elena Savva gene: SENP7 was added gene: SENP7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SENP7 were set to PMID: 37460201 Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Review for gene: SENP7 was set to AMBER Added comment: PMID: 37460201 - 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically. - Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome. - Additional studies performed supporting downstream proteins expression being affected - Neutropenia observed in 2/3 patients Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.129 | STX5 |
Ain Roesley gene: STX5 was added gene: STX5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX5 were set to 34711829 Phenotypes for gene: STX5 were set to congenital disorder of glycosylation MONDO#0015286, STX5-related Review for gene: STX5 was set to AMBER gene: STX5 was marked as current diagnostic Added comment: 1x family with 3x deceased shortly after death + 3x spontaneous abortions + 2x abortions due to abnormal fatal ultrasound (US). Hom for NM_003164.4:c.163 A > G p.(Met55Val), which results in complete loss of short isoform (which uses Met55 as the start) phenotype: short long bones on US, dysmorphism, skeletal dysplasia, profound hypotonia, hepatomegaly elevated cholesterol. Post-natally they died of progressive liver failure with cholestasis and hyperinsulinemic hypoglycemias Primary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.124 | INTS13 |
Chirag Patel gene: INTS13 was added gene: INTS13 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS13 were set to PMID: 36229431 Phenotypes for gene: INTS13 were set to Oral-facial-digital syndrome Review for gene: INTS13 was set to GREEN gene: INTS13 was marked as current diagnostic Added comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.122 | DCAF15 |
Chirag Patel gene: DCAF15 was added gene: DCAF15 was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER Added comment: ESHG 2023: 3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child) Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment. WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.120 | ERI1 |
Zornitza Stark gene: ERI1 was added gene: ERI1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ERI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ERI1 were set to 37352860 Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510) Review for gene: ERI1 was set to GREEN Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families - Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly - Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly - Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive - Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells - K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy with ERI1, staying bound to those RNA molecules" Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.118 | NUDCD2 |
Ee Ming Wong gene: NUDCD2 was added gene: NUDCD2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDCD2 were set to 37272762 Phenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related Penetrance for gene: NUDCD2 were set to unknown Review for gene: NUDCD2 was set to AMBER gene: NUDCD2 was marked as current diagnostic Added comment: - Two unrelated probands, each biallelic for two variants in NUDCD2 (total 3x LoF variants, 1x missense variant) - Immunoblotting of proteins extracted from the primary fibroblasts of one proband with 2x LoF variants demonstrated markedly reduced NUDCD2 levels compared to healthy individuals Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.116 | DRG1 | Krithika Murali Publications for gene: DRG1 were set to PMID: 37179472 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.114 | DRG1 |
Dean Phelan gene: DRG1 was added gene: DRG1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to PMID: 37179472 Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related Review for gene: DRG1 was set to GREEN Added comment: PMID: 37179472 - Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.114 | RAB34 |
Sarah Pantaleo gene: RAB34 was added gene: RAB34 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to PMID: 37384395 Phenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies Penetrance for gene: RAB34 were set to Complete Review for gene: RAB34 was set to GREEN Added comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS. Identified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. RAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands. In the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth. All four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities. All with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.112 | KIF26A |
Zornitza Stark gene: KIF26A was added gene: KIF26A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF26A were set to 36564622 Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Review for gene: KIF26A was set to GREEN Added comment: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia. Brain abnormalities may be detectable antenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.110 | MAP4K4 |
Zornitza Stark gene: MAP4K4 was added gene: MAP4K4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to 37126546 Phenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related Review for gene: MAP4K4 was set to GREEN Added comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.109 | RASA1 | Zornitza Stark Publications for gene: RASA1 were set to 33461977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.105 | GATAD2A |
Zornitza Stark gene: GATAD2A was added gene: GATAD2A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GATAD2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATAD2A were set to https://doi.org/10.1016/j.xhgg.2023.100198; 17565372 Phenotypes for gene: GATAD2A were set to Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related Review for gene: GATAD2A was set to AMBER Added comment: Inconsistent pattern of congenital abnormalities. https://doi.org/10.1016/j.xhgg.2023.100198 - Five unrelated individuals with a neurodevelopmental disorder identified with 3 missense & 2 LoF (4 de novo & 1 unknown inheritance). The shared clinical features with variable expressivity include global developmental delay (4/4), craniofacial dysmorphism (3/5), structural brain defects (2/3), musculoskeletal anomalies (3/5), vision/hearing defects (2/3), gastrointestinal/renal defects (2/3). Loss of function is the expected mechanism of disease. In vitro assays of one of the missense variants (p.Cys420Tyr) demonstrates disruption of GATAD2A integration with CHD3, CHD4, and CHD5 PMID: 17565372 - null mouse model is embryonic lethal. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.101 | KIF21A |
Chirag Patel gene: KIF21A was added gene: KIF21A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF21A were set to PMID: 34740919 Phenotypes for gene: KIF21A were set to Severe fetal akinesia with arthrogryposis multiplex Review for gene: KIF21A was set to AMBER Added comment: 2 unrelated consanguineous Turkish families with 5 affected fetuses with severe fetal akinesia with arthrogryposis multiplex. WES identified different homozygous LOF variants in KIF21A gene (p.Leu449* and p.Arg791Glufs*8). Parents and a healthy sibling were heterozygous carriers. No functional studies. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.95 | CRIPT | Zornitza Stark Publications for gene: CRIPT were set to 24389050; 27250922 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.93 | ESAM |
Chern Lim gene: ESAM was added gene: ESAM was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to 36996813 Phenotypes for gene: ESAM were set to Neurodevelopmental disorder (MONDO#0700092), ESAM-related Review for gene: ESAM was set to GREEN gene: ESAM was marked as current diagnostic Added comment: PMID 36996813 - Thirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice. - Affected individuals have profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses. - One of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect. - The c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.93 | FILIP1 |
Paul De Fazio gene: FILIP1 was added gene: FILIP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to 36943452 Phenotypes for gene: FILIP1 were set to Arthrogryposis multiplex congenita MONDO:0015168 Penetrance for gene: FILIP1 were set to unknown Review for gene: FILIP1 was set to GREEN gene: FILIP1 was marked as current diagnostic Added comment: 3 families, all consanguineous, reported with 3 different homozygous loss of function variants (2x NMD-predicted nonsense, 1x intragenic deletion of exons 3-6 of 6). In one family, the variant segregated in 3 affected siblings. Phenotypes consist of congenital contractures affecting shoulder, elbow, hand, hip, knee and foot as well as scoliosis, reduced palmar and plantar skin folds, microcephaly (-1.5 to -4 SD), and facial dysmorphism. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.90 | PLXND1 |
Zornitza Stark gene: PLXND1 was added gene: PLXND1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXND1 were set to 35396997 Phenotypes for gene: PLXND1 were set to Congenital heart disease, MONDO:0005453, PLXND1-related Review for gene: PLXND1 was set to GREEN Added comment: 10 individuals including four fetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT)/truncus arteriosus. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.89 | HMGB1 | Ain Roesley Publications for gene: HMGB1 were set to 34164801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.87 | EFCAB1 |
Zornitza Stark gene: EFCAB1 was added gene: EFCAB1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFCAB1 were set to 36727596 Phenotypes for gene: EFCAB1 were set to Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related Review for gene: EFCAB1 was set to GREEN Added comment: WES in 3 individuals with laterality defects and respiratory symptoms, identified homozygous pathogenic variants in CLXN (EFCAB1). They found Clxn expressed in mice left-right organizer. Transmission electron microscopy depicted outer dynein arm (ODA) defects in distal ciliary axonemes. Immunofluorescence microscopy revealed absence of CLXN from the ciliary axonemes, absence of the ODA components DNAH5, DNAI1 and DNAI2 from the distal axonemes, as well as mislocalization or absence of DNAH9. Additionally, CLXN is undetectable in ciliary axonemes of individuals with defects in the outer dynein arm docking (ODA-DC) machinery: ODAD1, ODAD2, ODAD3 and ODAD4. Moreover, SMED-EFCAB1-deficient planaria displayed ciliary dysmotility. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.84 | GOLGA2 | Zornitza Stark edited their review of gene: GOLGA2: Added comment: Third family reported but again hypoplasia of CC which may be difficult to detect. Onset of microcephaly uncertain.; Changed publications: 34424553; Changed phenotypes: Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.82 | SLC31A1 |
Daniel Flanagan gene: SLC31A1 was added gene: SLC31A1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to PMID: 35913762; 36562171 Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) Review for gene: SLC31A1 was set to AMBER Added comment: PMID:36562171 Homozygous c.236T>C; p.(Leu79Pro) identified in a newborn of consanguineous parents. Variant absent from gnomAD. Prenatal ultrasound showed a male fetus with short femoral bones, an apparently enlarged heart-to-thorax ratio, and a wide cisterna magna. The infant was born with pulmonary hypoplasia. At 2 weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at 1 month of age. The Mother had three healthy children while nine pregnancies had been extrauterine gravidities or ended in first or mid-trimester spontaneous abortions. PMID: 35913762 SLC31A1 is also referred to as CTR1. Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.81 | CDK5 | Zornitza Stark Publications for gene: CDK5 were set to 25560765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.78 | KDM2B |
Ain Roesley gene: KDM2B was added gene: KDM2B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM2B were set to 36322151 Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related Review for gene: KDM2B was set to GREEN gene: KDM2B was marked as current diagnostic Added comment: 27 individuals from 22 families were recruited 13 SNV classified LP/P, all de novo except 2 familial cases 5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function) 14 families with SNVs and a variety of cardiac anomalies including ASD, VSD, MR, PDA, PFO, Atrial septal aneurysm and Mild mitral insufficiency Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.76 | PDIA6 | Chirag Patel reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.73 | MED11 |
Ain Roesley gene: MED11 was added gene: MED11 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED11 were set to 36001086 Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related Review for gene: MED11 was set to AMBER gene: MED11 was marked as current diagnostic Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*). Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes NO evidence of founder effect from haplotype analysis 7/7 cerebral dysgyria, cortical atrophy 5/7 limb contracture 4/7 epilepsy 3/7 families with IUGR 3/7 GDD 3/7 hearing loss 3/7 undescended testis 2/7 nystagmus 1/7 congenital cataract Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.71 | FOSL2 |
Krithika Murali gene: FOSL2 was added gene: FOSL2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOSL2 were set to 36197437 Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related Review for gene: FOSL2 was set to GREEN Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies). In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism. Clinical features included: - Cutis aplasia congenital of the scalp (10/11) - Tooth enamel hypoplasia and discolouration (8/9) - Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis - 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset) - 6/9 IUGR - 5/9 postnatal growth restriction - 7/9 developmental delay/ID - 5/7 ADHD/ASD - 2/9 seizures Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.71 | KCNK3 |
Krithika Murali gene: KCNK3 was added gene: KCNK3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNK3 were set to 36195757 Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; developmental delay with sleep apnoea (DDSA) Review for gene: KCNK3 was set to GREEN Added comment: PMID 36195757 Sörmann et al 2022 report 9 unrelated individuals with de novo heterozygous KCNK3 missense variants (21 weeks to 25 years old). All 8 living probands (3-25 years) had hypotonia, global developmental delay, central and/or obstructive sleep apnoea and feeding difficulties. 7/9 probands had additional anomalies including microcephaly (at least 3/9), arthrogryposis/flexion contractures/foot deformities (7/9), scoliosis, cleft palate (2/9), and ambiguous genitalia/undescended testes (5/6) and dysmorphism. IUGR reported in 3/9 probands and polyhdramnios in 2/9. KCNK3 encodes the TASK-1 K2P channel expressed throughout the central nervous system. All identified variants clustered near the X-gate and are involved in inter- or intra-subunit interaction likely to hold the X-gate closed. Individuals with variants located in the M2 transmembrane helix had a more severe phenotype than those with variants in the M4 helix. Functional studies support a gain of function disease mechanism with increased channel activation. TASK-1 K+ channel inhibitors (some in clinical use) have been raised as a possible therapeutic strategy. ---- Heterozygous LoF variants associated with a different disorder - primary pulmonary arterial hypertension Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.70 | ATP7A |
Zornitza Stark changed review comment from: Well established gene-disease association, IUGR is a feature.; to: Well established gene-disease association, IUGR is a feature. Treatment: subcutaneous injections of copper histidine or copper chloride ClinGen has assessed as moderate evidence for actionability. Neonatal treatment with subcutaneous copper-histidine (initiated before 30 days of life) is recommended for asymptomatic males with a diagnosis of MD, but is not recommended for symptomatic boys or after 30 days of life. Treatment should be continued indefinitely. In an open-label clinical trial, 12 patients with MD treated with copper-histidine within 22 days of life had 92% survival after a mean follow-up of 4.6 years compared to 13% in a historical control group of 15 patients treated after a late diagnosis (mean age at diagnosis: 163 ± 113 days, range: 42 to 390). Two of the 12 patients with earlier treatment had normal neurological development. A second open-label trial of 35 presymptomatic patients receiving copper-histidine at less than a month of age reported significant improvement of four major neurodevelopmental (gross motor, fine motor/adaptive, personal/social, and language) domains and a non-significant lower mortality (28.5% vs 50%) at age of 3 years (or age of death) compared to 22 patients treated later and after onset of symptoms. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.69 | USP9X | Krithika Murali reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.69 | NODAL | Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.64 | ADAMTS15 |
Zornitza Stark gene: ADAMTS15 was added gene: ADAMTS15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS15 were set to 35962790 Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related Review for gene: ADAMTS15 was set to GREEN Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.62 | NPNT | Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.60 | NPNT |
Chirag Patel gene: NPNT was added gene: NPNT was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792 Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM # Review for gene: NPNT was set to GREEN Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.58 | KIF5B |
Chirag Patel gene: KIF5B was added gene: KIF5B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5B were set to PMID: 35342932 Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM # Review for gene: KIF5B was set to GREEN Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.56 | SETD5 | Zornitza Stark Mode of inheritance for gene: SETD5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.55 | SETD5 | Zornitza Stark reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.54 | ZMYND8 |
Zornitza Stark gene: ZMYND8 was added gene: ZMYND8 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMYND8 were set to 35916866; 32530565 Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures Review for gene: ZMYND8 was set to GREEN Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565). Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11). As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression. The protein is broadly expressed in brain and shows highest expression in early development. Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain). Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.51 | BMP3 |
Seb Lunke gene: BMP3 was added gene: BMP3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: BMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP3 were set to 35089417 Phenotypes for gene: BMP3 were set to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129 Added comment: Single missense variant identified segregating with disease following WES screen in a family with coloboma and/or microphthalmia in BMP3. Two additional unrelated patients identified with different missense in BMP3. Pathogenicity however largely on in-silicos, with one of the 3 missense having 29 hets in gnomAD. Additional functional work in bmp3 -/- zebra fish and some supporting evidence but not conclusive. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.49 | SPTA1 |
Zornitza Stark gene: SPTA1 was added gene: SPTA1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPTA1 were set to 34132406; 35483216; 31333484; 29594000 Phenotypes for gene: SPTA1 were set to Spherocytosis type 3 #270970; Elliptocytosis-2 #130600; pyropoikilocytosis #266140 Review for gene: SPTA1 was set to GREEN Added comment: Severe presentations with hydrops reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.48 | PPP1R13L | Zornitza Stark Phenotypes for gene: PPP1R13L were changed from Dilated cardiomyopathy, onset in infancy; Cleft lip and palate to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related; Dilated cardiomyopathy, onset in infancy; Cleft lip and palate | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.47 | PPP1R13L | Krithika Murali edited their review of gene: PPP1R13L: Changed phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 - PPP1R13L-related disorder, Dilated cardiomyopathy, onset in infancy, Cleft lip and palate | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.47 | GINS3 |
Zornitza Stark gene: GINS3 was added gene: GINS3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS3 were set to 35603789 Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Review for gene: GINS3 was set to GREEN Added comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.45 | UBA2 | Zornitza Stark Publications for gene: UBA2 were set to PMID: 31332306; 31587267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.44 | TTC25 | Zornitza Stark Publications for gene: TTC25 were set to 27486780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.41 | WNT7B |
Zornitza Stark gene: WNT7B was added gene: WNT7B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7B were set to 35790350 Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related Review for gene: WNT7B was set to GREEN Added comment: Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.39 | PAN2 |
Naomi Baker gene: PAN2 was added gene: PAN2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAN2 were set to PMID:35304602; 29620724 Phenotypes for gene: PAN2 were set to Syndromic disease MONDO:0002254 Added comment: PMID:35304602 reports five individuals from 3 families with biallelic (homozygous) loss-of-function variants. Clinical presentation incudes mild-moderate intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, congenital heart defects (tetralogy of Fallot, septal defects, dilated aortic root), urinary tract malformations, ophthalmological anomalies, short stature with other skeletal anomalies, and craniofacial features including flat occiput, ptosis, long philtrum, and short neck. PMID:29620724 reports one individual with biallelic (homozygous) loss-of-function variant who presented with global developmental delay, mild hypotonia, craniosynostosis, severe early-onset scoliosis, imperforate anus, and double urinary collecting system. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.38 | ETV2 |
Zornitza Stark gene: ETV2 was added gene: ETV2 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETV2 were set to 33359164 Phenotypes for gene: ETV2 were set to multiple fetal anomalies; congenital heart disease MONDO:000545, ETV2-related; vertebral malformations Review for gene: ETV2 was set to RED Added comment: 1 family with 4 fetus-es all cHet for a fs (NMD-predicted) and a missense 3/4 vertebral malformations 2/4 Tetralogy of Fallot 1/4 arterial septal defect 1/4 ventricular septal defect, aortic dilatation 1/4 pre-axial polydactyly Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.36 | ADD1 |
Zornitza Stark gene: ADD1 was added gene: ADD1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ADD1 were set to 34906466 Phenotypes for gene: ADD1 were set to Neurodevelopmental disorder MONDO:0700092, ADD1-related Review for gene: ADD1 was set to GREEN Added comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.34 | MYO9A | Zornitza Stark Publications for gene: MYO9A were set to 27259756; 29462312; 26752647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.29 | USP14 |
Chirag Patel gene: USP14 was added gene: USP14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to PMID: 35066879 Phenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM # Review for gene: USP14 was set to RED Added comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.27 | FTO | Bryony Thompson Publications for gene: FTO were set to 19559399; 26378117 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.25 | ODC1 |
Lucy Spencer gene: ODC1 was added gene: ODC1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ODC1 were set to 30475435; 30239107 Phenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome (MIM#619075) Review for gene: ODC1 was set to GREEN Added comment: Polyhydraminos are a common prenatal finding in individuals with ODC1 variants. Malformations of cortical development and intracranial calcification have also been reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.24 | COASY | Ain Roesley Publications for gene: COASY were set to 30089828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.19 | CDK10 |
Ain Roesley gene: CDK10 was added gene: CDK10 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK10 were set to 28886341; 34974531 Phenotypes for gene: CDK10 were set to Al Kaissi syndrome MIM#617694 Review for gene: CDK10 was set to GREEN gene: CDK10 was marked as current diagnostic Added comment: 6 families reported 1x with IUGR, 1x hydrocephalus and 1x with fetal hydrops, hydrocephalus, multicystic, dysplastic kidneys, lung hypoplasia, cardiomyopathy, retrognathia Small birth weight/sizes reported in all Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.17 | RSPO2 |
Zornitza Stark gene: RSPO2 was added gene: RSPO2 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPO2 were set to 29769720; 32457899 Phenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, MIM# 618021 Review for gene: RSPO2 was set to GREEN Added comment: Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia. Four unrelated families and functional data including animal model. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.15 | MDFIC |
Belinda Chong gene: MDFIC was added gene: MDFIC was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDFIC were set to 35235341 Phenotypes for gene: MDFIC were set to Hydrops fetalis MONDO:0015193 Review for gene: MDFIC was set to GREEN Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise. Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.13 | TNNI1 |
Krithika Murali gene: TNNI1 was added gene: TNNI1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TNNI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNI1 were set to 34934811 Phenotypes for gene: TNNI1 were set to arthrogryposis; joint contractures Review for gene: TNNI1 was set to AMBER Added comment: No OMIM gene disease association reported PMID 34934811 Nishimori et al report 2 individuals from a Japanese family with joint contractures, elevated CK and a novel heterozygous TNNI1 variant. The proband was born with clasped thumbs (gestational age not stated) requiring surgical correction at 5 months of age. At age 14 was diagnosed with contractures of the neck, trunk, hip and knee with elevated serum CK (1689 IU/L). No muscle weakness noted. Muscle biopsy showed moth-eaten appearance of type I fibres and electron microscopy showed type 1 fibre Z disk streaming. Trio exome sequencing identified a paternally heterozygous nonsense TNNI1 variant (c.523A>T p.K175*). The proband's father and paternal grandfather (not genotyped) also have a history of joint contractures with elevated CK. The affected amino acid residue is in the tropomyosin binding site near the C-terminus and is highly conserved. The variant is absent from gnomAD. rt-PCR products of mRNA from the patient's muscle biopsy showed presence of both mutated and normal transcripts. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.11 | NEXN |
Krithika Murali gene: NEXN was added gene: NEXN was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NEXN were set to 33947203; 33949776; 35166435; 32058062 Phenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122 Review for gene: NEXN was set to GREEN Added comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy. PMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population. PMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis. PMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.9 | SCAF4 |
Lucy Spencer gene: SCAF4 was added gene: SCAF4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCAF4 were set to PMID: 32730804 Phenotypes for gene: SCAF4 were set to Neurodevelopmental disorder, SCAF4-related MONDO#0700092 Review for gene: SCAF4 was set to GREEN Added comment: PMID: 32730804- 11 individuals with SCAF4 variants, 9 are de novo. Present with mild to severe ID/Dev delay, most have seizures, 4 have cardiac defects, 4 have renal anomalies, 3 have urogenital anomalies, 6 have skeletal anomalies, 2 have GI anomalies. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.7 | NAA15 | Zornitza Stark Publications for gene: NAA15 were set to 31127942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.5 | EFNB1 | Bryony Thompson Mode of inheritance for gene: EFNB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.4 | NARS |
Krithika Murali gene: NARS was added gene: NARS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225; 32788587 Phenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092 Review for gene: NARS was set to GREEN Added comment: HGNC approved gene symbol - NARS1 Both mono allelic and biallelic variants associated with a progressive neurological disorder with onset in infancy. Antenatal features reported. PMID 32738225 - reports roband with de novo heterozygous variant - IUGR and oligohydramnios noted prenatally. At birth noted to have low weight and OFC for gestational age. Proband with homozygous variant diagnosed with microcephaly, seizures and FTT in the neonatal period. Proband with compound het variants born with a low weight (-2.38 SD) and height (-3.76 SD) for gestational age. Review of supplementary material table - microcephaly at birth reported in 17 unrelated families. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.2 | ZNF335 |
Zornitza Stark gene: ZNF335 was added gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF335 were set to 23178126; 27540107; 29652087; 34982360 Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive (MIM#615095) Review for gene: ZNF335 was set to GREEN Added comment: Microcephaly is generally primary, including reports of -9SD at birth. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4729 | OXR1 |
Krithika Murali gene: OXR1 was added gene: OXR1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXR1 were set to PMID: 31785787 Phenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000 Review for gene: OXR1 was set to GREEN Added comment: Early-onset condition associated with cerebellar atrophy and severe global developmental delay. Limited antenatal information provided but affected individuals were much older at the time of formal diagnosis PMID: 31785787, antenatal detection may be possible. --- 5 individuals from 3 unrelated families reported with bi-allelic variants in this gene. Presentation was in early childhood with hypotonia, global developmental delay, delayed walking at about age 3 years, and severely impaired intellectual development with profound speech delay or even absent language. All also developed epilepsy between 7 and 10 years of age, but the seizures were controlled by medication in most. Subtle nonspecific dysmorphic features included poor overall growth, large forehead, tall face, mild hypertelorism, joint hyperlaxity, and long fingers and toes. Brain imaging in all 5 individuals showed cerebellar atrophy and dysplasia. Additional cerebellar features, such as tremor, ataxia, and nystagmus, were not noted in these individuals. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4729 | MED27 |
Krithika Murali gene: MED27 was added gene: MED27 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 Review for gene: MED27 was set to GREEN Added comment: Severe neurodevelopmental disorder with onset in infancy associated with multiple, significant brain anomalies which may be detectable antenatally (although antenatal phenotype not reported in published cases) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4729 | EXOSC9 |
Krithika Murali gene: EXOSC9 was added gene: EXOSC9 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC9 were set to 33040083; 30690203; 29727687 Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D - MIM#618065 Review for gene: EXOSC9 was set to GREEN Added comment: Multiple antenatal features reported including IUGR, reduced fetal movements, oligohydramnios, congenital fractures and contractures. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4725 | RBP4 |
Zornitza Stark gene: RBP4 was added gene: RBP4 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBP4 were set to 25910211; 29178648 Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10 MIM#616428 Review for gene: RBP4 was set to GREEN Added comment: At least 3 unrelated microphthalmia, anophthalmia and coloboma families and supporting functional assays. Study established an uncharacterized mode of maternal inheritance, distinct from imprinting and oocyte-derived mRNA. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4723 | PRR12 |
Zornitza Stark gene: PRR12 was added gene: PRR12 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRR12 were set to 33314030; 29556724 Phenotypes for gene: PRR12 were set to Neuroocular syndrome, MIM#619539; Complex microphthalmia Review for gene: PRR12 was set to GREEN Added comment: PMID 33314030: Four unrelated families reported with unilateral or bilateral microphthalmia +/- Peters anomaly. In addition, 3 unrelated families reported with more complex phenotype including ID in PMID 29556724. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4722 | EXOSC8 |
Krithika Murali gene: EXOSC8 was added gene: EXOSC8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 34210538; 24989451 Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C - MIM#616081 Review for gene: EXOSC8 was set to GREEN Added comment: Severe autosomal recessive neurodegenerative disorder. PMID 24989451 report polyhydramnios, vermis hypoplasia, mega cisterna magna and corpus callosum anomalies in affectd individuals Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4721 | MAB21L1 |
Zornitza Stark gene: MAB21L1 was added gene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAB21L1 were set to 30487245 Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 Review for gene: MAB21L1 was set to GREEN Added comment: Pontocerebellar hypoplasia, Dandy-Walker malformation, microcephaly reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4719 | FBXW11 |
Zornitza Stark gene: FBXW11 was added gene: FBXW11 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBXW11 were set to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914 Review for gene: FBXW11 was set to GREEN Added comment: 7 unrelated individuals; structural brain, eye and limb anomalies. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4718 | EXOSC5 |
Krithika Murali gene: EXOSC5 was added gene: EXOSC5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC5 were set to 32504085; 29302074 Phenotypes for gene: EXOSC5 were set to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects - MIM#619576 Review for gene: EXOSC5 was set to GREEN Added comment: Associated with congenital anomalies Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4717 | CAPN15 |
Zornitza Stark gene: CAPN15 was added gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN15 were set to 32885237 Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318; microphthalmia HP:0000568; coloboma HP:0000589 Review for gene: CAPN15 was set to GREEN Added comment: PMID: 32885237 - Zha et al 2020 - report 5 individuals with microphthalmia and/or coloboma from 4 independent families who, through WES, were identified as carrying homozygous or compound heterozygous missense variants in CAPN15 that are predicted to be damanging. the variants segregated with the disease in all 4 families, with parents being unaffected heterozygous carriers. Several individuals had additional phenotypes including growth deficits (2 families), developmental delay (2 families) and hearing loss (2 families). Capn15 knockout mice showed similar severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminished growth. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4715 | C16orf62 |
Zornitza Stark gene: C16orf62 was added gene: C16orf62 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C16orf62 were set to 25434475; 31712251 Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Review for gene: C16orf62 was set to AMBER Added comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251). Microphthalmia and multiple other anomalies. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4714 | CWF19L1 |
Krithika Murali gene: CWF19L1 was added gene: CWF19L1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to 27016154 Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 - MIM#616127 Review for gene: CWF19L1 was set to GREEN Added comment: Fetal phenotype also described by 27016154 - MTOP at 22 weeks of gestation of an affected fetus due to small cerebellum and agenesis of corpus callosum. Postmortem examination showed unilateral hexadactyly and vertebral malformations. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4707 | BRF1 |
Krithika Murali gene: BRF1 was added gene: BRF1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRF1 were set to 25561519; 25561519; 27748960 Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome - MIM#616202 Review for gene: BRF1 was set to GREEN Added comment: Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia. At least 5 unrelated families and a zebrafish model. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4702 | MTX2 |
Krithika Murali gene: MTX2 was added gene: MTX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTX2 were set to 32917887 Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome - MIM#619127 Review for gene: MTX2 was set to GREEN Added comment: Biallelic variants associated with severe progeroid form of MAD Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4702 | TMEM218 |
Krithika Murali gene: TMEM218 was added gene: TMEM218 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 33791682; 25161209 Phenotypes for gene: TMEM218 were set to Joubert syndrome 39 - MIM#619562 Review for gene: TMEM218 was set to GREEN Added comment: Associated with Jouberty syndrome. Occipital encephalocele reported in 5 fetuses. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4702 | NID1 |
Krithika Murali gene: NID1 was added gene: NID1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NID1 were set to 23674478; 25558065; 12480912; 30773799 Phenotypes for gene: NID1 were set to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures Review for gene: NID1 was set to GREEN Added comment: No OMIM gene disease association. Monoallelic variants associated with brain anomalies including hydrocephalus, Dandy Walker malformation and occipital cephalocele. - Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4702 | KIAA0556 |
Krithika Murali gene: KIAA0556 was added gene: KIAA0556 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0556 were set to 26714646; 27245168 Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26 - MIM#616784 Review for gene: KIAA0556 was set to GREEN Added comment: Associated with Joubert syndrome. 5 individuals from two families reported, supportive mouse model. New HGNC approved name is KATNIP. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4702 | IFT74 |
Krithika Murali gene: IFT74 was added gene: IFT74 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 33531668; 27486776; 32144365 Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 22 - MIM#617119; Joubert syndrome 40 - MIM#619582 Review for gene: IFT74 was set to GREEN Added comment: Biallelic variants associated with both Joubert and Bardet-Biedl syndrome phenotype - multiple congenital anomalies reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4702 | FAM149B1 |
Krithika Murali gene: FAM149B1 was added gene: FAM149B1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM149B1 were set to 30905400 Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36 - MIM#618763 Review for gene: FAM149B1 was set to GREEN Added comment: Biallelic variants associated with Joubert syndrome in 4 unrelated families. Reported characteristics in published cases includes macrocephaly, mesoaxial polydactyly and cleft lip Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4702 | CCDC28B |
Krithika Murali gene: CCDC28B was added gene: CCDC28B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC28B were set to 32139166 Phenotypes for gene: CCDC28B were set to Joubert syndrome Review for gene: CCDC28B was set to AMBER Added comment: No new publications since last PanelApp review May 2020 --- PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4702 | ARL3 |
Krithika Murali gene: ARL3 was added gene: ARL3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812; 16565502 Phenotypes for gene: ARL3 were set to Joubert syndrome 35- MIM#618161 Review for gene: ARL3 was set to GREEN Added comment: Associated with Joubert syndrome with antenatally detectable features including renal and brain anomalies Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4700 | MORC2 |
Krithika Murali gene: MORC2 was added gene: MORC2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MORC2 were set to 32693025 Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy - MIM#619090 Review for gene: MORC2 was set to RED Added comment: No new publications since last PanelApp review Dec 2020. No antenatal features reported. --- MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Hearing loss was observed in 11/19 subjects, primarily SNHL. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4699 | MINPP1 |
Krithika Murali gene: MINPP1 was added gene: MINPP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MINPP1 were set to 33257696; 33168985 Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16 - MIM#619527 Review for gene: MINPP1 was set to GREEN Added comment: Biallelic LoF variants associated with pontocerebellar hypoplasia. Early-onset progressive microcephaly is a phenotypic feature with one affected individual reported to have prenatal evidence of microcephaly associated with increased thalami echogenicity (PMID 33257696) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4699 | NCAPD2 |
Zornitza Stark gene: NCAPD2 was added gene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPD2 were set to 31056748; 27737959; 28097321 Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive; OMIM #617983 Review for gene: NCAPD2 was set to GREEN Added comment: Three families reported: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence. 1 family with 1 affected and homozygous NCAPD2 mutation, which segregated with disease. Patient fibroblasts showed impaired chromosome segregation and abnormal recovery from mitotic condensation compared to controls. 1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed. IUGR reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4697 | NSRP1 |
Zornitza Stark gene: NSRP1 was added gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSRP1 were set to 34385670 Phenotypes for gene: NSRP1 were set to Neurodevelopmental disorder, MONDO:0700092, NSRP1-related; Epilepsy; Cerebral palsy; microcephaly; Intellectual disability Review for gene: NSRP1 was set to GREEN Added comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy. Structural brain abnormalities. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4696 | NUF2 |
Zornitza Stark gene: NUF2 was added gene: NUF2 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: NUF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NUF2 were set to 33721060 Phenotypes for gene: NUF2 were set to Syndromic disease, MONDO:0002254; microcephaly; short stature; bilateral vocal cord paralysis; micrognathia; atrial septal defect Review for gene: NUF2 was set to RED Added comment: PMID: 33721060 - de novo missense variant identified in one male patient with microcephaly and short stature, with additional features, such as bilateral vocal cord paralysis, micrognathia and atrial septal defect. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4694 | NUP188 |
Zornitza Stark gene: NUP188 was added gene: NUP188 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 32021605; 28726809; 32275884 Phenotypes for gene: NUP188 were set to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities Review for gene: NUP188 was set to GREEN Added comment: 8 unrelated individuals reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4692 | NUP85 |
Zornitza Stark gene: NUP85 was added gene: NUP85 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP85 were set to 34170319 Phenotypes for gene: NUP85 were set to Microcephaly, MONDO:0001149, NUP85-related Review for gene: NUP85 was set to AMBER Added comment: PMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle. Variants in this gene are also associated with nephrotic syndrome. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4689 | PUS7 |
Belinda Chong gene: PUS7 was added gene: PUS7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 30526862; 30778726; 31583274 Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342 Review for gene: PUS7 was set to RED gene: PUS7 was marked as current diagnostic Added comment: Onset at infancy 11 patients from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4686 | PTPN23 |
Belinda Chong gene: PTPN23 was added gene: PTPN23 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065 Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Review for gene: PTPN23 was set to GREEN gene: PTPN23 was marked as current diagnostic Added comment: Onset at birth or early infancy. Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4686 | PRIM1 |
Belinda Chong gene: PRIM1 was added gene: PRIM1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIM1 were set to 33060134 Phenotypes for gene: PRIM1 were set to Microcephalic primordial dwarfism, MONDO:0017950 Review for gene: PRIM1 was set to AMBER gene: PRIM1 was marked as current diagnostic Added comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant. Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections. Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4686 | PPP1R15B |
Belinda Chong gene: PPP1R15B was added gene: PPP1R15B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R15B were set to 26159176; 26307080; 27640355 Phenotypes for gene: PPP1R15B were set to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 Review for gene: PPP1R15B was set to AMBER gene: PPP1R15B was marked as current diagnostic Added comment: Three unrelated families reported, two with the same variant. Phenotype in family reported in PMID 27640355 included infantile cirrhosis requiring transplantation. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4686 | PPIL1 |
Belinda Chong gene: PPIL1 was added gene: PPIL1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIL1 were set to 33220177 Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures Review for gene: PPIL1 was set to GREEN gene: PPIL1 was marked as current diagnostic Added comment: The patients presented at birth with severe microcephaly (-2 to -6 SD), which progressed postnatally (-4 to -8 SD) 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4686 | SYNCRIP |
Zornitza Stark gene: SYNCRIP was added gene: SYNCRIP was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: SYNCRIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYNCRIP were set to 34157790 Phenotypes for gene: SYNCRIP were set to SYNCRIP-related neurodevelopmental disorder Review for gene: SYNCRIP was set to RED Added comment: One of 8 individuals reported so far had PVNH. Other features present post-natally. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4664 | NPC2 | Zornitza Stark Publications for gene: NPC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4661 | NPHP1 | Zornitza Stark Publications for gene: NPHP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4660 | NKX2-5 | Alison Yeung Publications for gene: NKX2-5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4657 | NPHP3 | Zornitza Stark Publications for gene: NPHP3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4653 | NPHP4 | Zornitza Stark Publications for gene: NPHP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4651 | NRAS | Zornitza Stark Publications for gene: NRAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4647 | NSD1 | Zornitza Stark Publications for gene: NSD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4644 | NSDHL | Zornitza Stark Publications for gene: NSDHL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4643 | NSDHL | Zornitza Stark Mode of inheritance for gene: NSDHL was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4642 | NUP107 | Zornitza Stark Phenotypes for gene: NUP107 were changed from EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to Galloway-Mowat syndrome 7, MIM# 618348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4641 | NUP107 | Zornitza Stark Publications for gene: NUP107 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4638 | PCGF2 | Zornitza Stark Publications for gene: PCGF2 were set to 30526864 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4635 | PCNT | Zornitza Stark Publications for gene: PCNT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4633 | PDHA1 | Zornitza Stark Publications for gene: PDHA1 were set to 26865159 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4631 | PEX1 | Zornitza Stark Publications for gene: PEX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4629 | PEX10 | Zornitza Stark Publications for gene: PEX10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4627 | PEX11B | Zornitza Stark Publications for gene: PEX11B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4625 | PEX12 | Zornitza Stark Publications for gene: PEX12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4623 | PEX13 | Zornitza Stark Publications for gene: PEX13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4621 | PEX14 | Zornitza Stark Publications for gene: PEX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4619 | PEX16 | Zornitza Stark Publications for gene: PEX16 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4616 | PEX19 | Zornitza Stark Publications for gene: PEX19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4614 | PEX2 | Zornitza Stark Publications for gene: PEX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4612 | PEX26 | Zornitza Stark Publications for gene: PEX26 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4610 | PEX3 | Zornitza Stark Publications for gene: PEX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4608 | PEX5 | Zornitza Stark Publications for gene: PEX5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4606 | NR2F2 | Zornitza Stark Publications for gene: NR2F2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4603 | PEX6 | Zornitza Stark Publications for gene: PEX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4601 | PGAP2 | Zornitza Stark Publications for gene: PGAP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4599 | PGAP3 | Zornitza Stark Publications for gene: PGAP3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4597 | PGM1 | Zornitza Stark Publications for gene: PGM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4595 | PHF8 | Zornitza Stark Publications for gene: PHF8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4593 | PHGDH | Zornitza Stark Publications for gene: PHGDH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4591 | PHIP | Zornitza Stark Publications for gene: PHIP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4587 | PIEZO2 | Zornitza Stark Publications for gene: PIEZO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4584 | PIGA | Zornitza Stark Publications for gene: PIGA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4582 | PIGL | Zornitza Stark Publications for gene: PIGL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4580 | PIGO | Zornitza Stark Publications for gene: PIGO were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4578 | PIGT | Zornitza Stark Publications for gene: PIGT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4576 | PIGV | Zornitza Stark Publications for gene: PIGV were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4574 | PIK3CA | Zornitza Stark Publications for gene: PIK3CA were set to 30712880; 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4570 | PIK3R2 | Zornitza Stark Publications for gene: PIK3R2 were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4567 | PITX3 | Zornitza Stark Publications for gene: PITX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4564 | PKD1L1 | Zornitza Stark Publications for gene: PKD1L1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4562 | PKLR | Zornitza Stark Publications for gene: PKLR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4560 | PMM2 | Zornitza Stark Publications for gene: PMM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4558 | PNKP | Zornitza Stark Publications for gene: PNKP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4555 | POGZ | Zornitza Stark Publications for gene: POGZ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4554 | PLK1 |
Belinda Chong gene: PLK1 was added gene: PLK1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLK1 were set to 33875846 Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability Review for gene: PLK1 was set to AMBER gene: PLK1 was marked as current diagnostic Added comment: Five individuals reported with microcephaly. However, unclear if microcephaly is pre or post natal. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4552 | POLR1C | Zornitza Stark Publications for gene: POLR1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4549 | POMT1 | Zornitza Stark Publications for gene: POMT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4547 | POMT2 | Zornitza Stark Publications for gene: POMT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4546 | PIGH |
Belinda Chong gene: PIGH was added gene: PIGH was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGH were set to 29573052; 33156547; 29603516 Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Review for gene: PIGH was set to AMBER gene: PIGH was marked as current diagnostic Added comment: Microcephaly appears to present at postnatal in these individuals. Three further families reported, including two sibs with microcephaly. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4546 | PHC1 |
Belinda Chong gene: PHC1 was added gene: PHC1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHC1 were set to 23418308 Phenotypes for gene: PHC1 were set to Microcephaly 11, primary, autosomal recessive, MIM#615414 Review for gene: PHC1 was set to RED gene: PHC1 was marked as current diagnostic Added comment: Short stature and microcephaly, currently not enough information. Single family reported with functional data. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4545 | PORCN | Zornitza Stark Publications for gene: PORCN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4543 | POU1F1 | Zornitza Stark Publications for gene: POU1F1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4541 | PPP2R1A | Zornitza Stark Publications for gene: PPP2R1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4537 | PPP2R5D | Zornitza Stark Publications for gene: PPP2R5D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4534 | PPP1CB | Zornitza Stark Publications for gene: PPP1CB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4532 | PDCD6IP |
Belinda Chong gene: PDCD6IP was added gene: PDCD6IP was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD6IP were set to 32286682 Phenotypes for gene: PDCD6IP were set to Primary microcephaly Review for gene: PDCD6IP was set to AMBER gene: PDCD6IP was marked as current diagnostic Added comment: Primary microcephaly was noticed at birth and their occipital-frontal circumference (OFC) was ≤−2 standard deviations (SD), may be relevant for this panel however, currently not enough information. One consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4532 | PCYT2 |
Belinda Chong gene: PCYT2 was added gene: PCYT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422 Phenotypes for gene: PCYT2 were set to Spastic paraplegia 82, autosomal recessive MIM#618770 Review for gene: PCYT2 was set to RED gene: PCYT2 was marked as current diagnostic Added comment: Brain imaging shows progressive cerebral and cerebellar atrophy however, normal initially. 5 individuals from 4 families reported with progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some never achieved walking, whereas others lost the ability to walk or walk with an unsteady gait. Additional features included variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Overall poor growth, but only one individual reported with microcephaly -3SD, and head size appears relatively spared against other reported growth parameters. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4532 | PCDH12 |
Belinda Chong gene: PCDH12 was added gene: PCDH12 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683; 30178464 Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Review for gene: PCDH12 was set to GREEN gene: PCDH12 was marked as current diagnostic Added comment: Brain malformations were detectable antenatally. Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present. At least 12 families reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4532 | PARP6 |
Belinda Chong gene: PARP6 was added gene: PARP6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PARP6 were set to 34067418 Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly Review for gene: PARP6 was set to GREEN gene: PARP6 was marked as current diagnostic Added comment: IUGR and partial agenesis of the corpus callosum has been observed. Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4518 | PQBP1 | Zornitza Stark Publications for gene: PQBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4512 | PRSS56 | Zornitza Stark Publications for gene: PRSS56 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4510 | RAB18 | Zornitza Stark Publications for gene: RAB18 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4508 | RAB3GAP1 | Zornitza Stark Publications for gene: RAB3GAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4506 | RAB3GAP2 | Zornitza Stark Publications for gene: RAB3GAP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4504 | RAC1 | Zornitza Stark Publications for gene: RAC1 were set to 30712878; 28886345 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4500 | RAD21 | Zornitza Stark Publications for gene: RAD21 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4497 | RAF1 | Zornitza Stark Publications for gene: RAF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4493 | RAI1 | Zornitza Stark Publications for gene: RAI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4489 | RARB | Zornitza Stark Publications for gene: RARB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4487 | RARS2 | Zornitza Stark Publications for gene: RARS2 were set to 26083569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4485 | RASA1 | Zornitza Stark Publications for gene: RASA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4482 | RAX | Zornitza Stark Publications for gene: RAX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4478 | MCM7 |
Krithika Murali gene: MCM7 was added gene: MCM7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM7 were set to 33654309; 34059554 Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency Review for gene: MCM7 was set to AMBER Added comment: Association with congenital microcephaly. No new publications since last PanelApp review --- MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families. - PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression. - PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4478 | LMNB2 |
Krithika Murali gene: LMNB2 was added gene: LMNB2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB2 were set to 33033404 Phenotypes for gene: LMNB2 were set to Microcephaly 27, primary, autosomal dominant - MIM#619180 Review for gene: LMNB2 was set to GREEN Added comment: Almost all reported individuals had congenital microcephaly. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4478 | LMNB1 |
Krithika Murali gene: LMNB1 was added gene: LMNB1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB1 were set to 32910914 Phenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant - MIM#619179 Review for gene: LMNB1 was set to GREEN Added comment: Monoallelic variants associated with profound microcephaly - this was noted antenatally in 5 unrelated individuals (total of 8 individuals from 5 families reported) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4478 | LINGO1 |
Krithika Murali gene: LINGO1 was added gene: LINGO1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINGO1 were set to 28837161; 31668702 Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64 - MIM#618103 Review for gene: LINGO1 was set to AMBER Added comment: 5 individuals reported from 2 families. 4 out of the 5 individuals had microcephaly. ID, developmentatl delay, spasticity, hypertonia, feeding problems also reported features. No antenatal information or birth growth parameters provided, but it is possible that microcephaly was antenatal/congenital in onset based on other phenotypic features reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4478 | LAGE3 |
Krithika Murali gene: LAGE3 was added gene: LAGE3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAGE3 were set to 31069511; 28805828 Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked - MIM#301006 Review for gene: LAGE3 was set to GREEN Added comment: Phenotypic features detectable antenatally include microcephaly, IUGR and brain malformations. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4478 | KIF21B |
Krithika Murali gene: KIF21B was added gene: KIF21B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21B were set to 32415109 Phenotypes for gene: KIF21B were set to Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly Review for gene: KIF21B was set to GREEN Added comment: Monoallelic variants associated with a neurodevelopmental disorder. Phenotypic features include ID, corpus callosum anomalies and microcephaly. PMID 32415109 report 4 unrelated individuals, 2 had IUGR +/- oligohydramnios. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4477 | PSAP | Seb Lunke Added comment: Comment on list classification: Onset in infancy, amber for fetal anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4476 | PTCH1 | Seb Lunke Publications for gene: PTCH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4472 | PTPN11 | Seb Lunke Publications for gene: PTPN11 were set to 30266093; 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4469 | PUF60 | Seb Lunke Publications for gene: PUF60 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4465 | RERE | Seb Lunke Publications for gene: RERE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4460 | SNORD118 | Zornitza Stark Publications for gene: SNORD118 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4459 | SNORD118 | Zornitza Stark changed review comment from: Many reported individuals have ID; however overall this is a progressive neurological disorder with variable onset, including in late adulthood.; to: Variable onset, including in infancy with brain abnormalities detectable by imaging. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4458 | RFX6 | Zornitza Stark Publications for gene: RFX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4456 | RIPK4 | Zornitza Stark Publications for gene: RIPK4 were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4454 | RIT1 | Zornitza Stark Publications for gene: RIT1 were set to 30712878; 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4444 | ROGDI | Zornitza Stark Publications for gene: ROGDI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4443 | ROGDI |
Zornitza Stark changed review comment from: Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discolouration of the teeth. More than 10 families reported.; to: Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discolouration of the teeth. More than 10 families reported. Cerebellar hypoplasia and ventriculomegaly described. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4442 | RPGRIP1L | Zornitza Stark Publications for gene: RPGRIP1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4440 | RPL11 | Zornitza Stark Publications for gene: RPL11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4437 | RPL5 | Zornitza Stark Publications for gene: RPL5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4434 | RPS10 | Zornitza Stark Publications for gene: RPS10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4432 | RPS17 | Zornitza Stark Publications for gene: RPS17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4429 | RPS19 | Zornitza Stark Publications for gene: RPS19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4426 | RPS26 | Zornitza Stark Publications for gene: RPS26 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4423 | RTTN | Zornitza Stark Publications for gene: RTTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4421 | RYR1 | Zornitza Stark Publications for gene: RYR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4415 | SATB2 | Zornitza Stark Publications for gene: SATB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4412 | SBDS | Zornitza Stark Publications for gene: SBDS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4410 | SCARF2 | Zornitza Stark Publications for gene: SCARF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4408 | SDCCAG8 | Zornitza Stark Publications for gene: SDCCAG8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4404 | TBC1D7 |
Krithika Murali gene: TBC1D7 was added gene: TBC1D7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D7 were set to 23687350; 24515783 Phenotypes for gene: TBC1D7 were set to Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000 Review for gene: TBC1D7 was set to AMBER Added comment: PMID: 24515783 report 2 siblings with biallelic variants. One noted to be macrosomic at birth and parents reported macrocephaly. PMID: 23687350 report 2 affected siblings. One was noted to be macrocephalic at birth. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4404 | TAOK1 |
Krithika Murali gene: TAOK1 was added gene: TAOK1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAOK1 were set to 35091509; 31230721; 33565190 Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575 Review for gene: TAOK1 was set to GREEN Added comment: Heterozygous TAOK1 variants associated with developmental delay PMID 35091509 - complication of polyhydramnios noted in 2 pregnancies in unrelated families PMID 33565190: - 1 patient with ventriculomegaly detected 28 week USS and polyhydramnios with secondary complication of multi-suture craniosynostosis - 1 infant with low birth weight. - 1 individual - antenatal history includes polyhydramnios at 5 months gestation PMID 31230721 - report one individual noted to be macrocephalic at birth with cleft palate Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4404 | STT3A |
Krithika Murali gene: STT3A was added gene: STT3A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STT3A were set to 34653363; 23842455; 30701557; 28424003 Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw, autosomal dominant - MIM#619714; Congenital disorder of glycosylation, type Iw, autosomal recessive - MIM#615596 Review for gene: STT3A was set to GREEN Added comment: Biallelic variants associated with an earlier onset of symptoms. PMID: 23842455 report IUGR in one infant. PMID: 28424003 - report 5 affected individuals from one family, birth growth parameters of 4/5 individuals suggestive of growth restriction/relative microcephaly. --- ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A) PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16). Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4404 | RHEB |
Krithika Murali gene: RHEB was added gene: RHEB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RHEB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHEB were set to 29051493; 31337748 Phenotypes for gene: RHEB were set to Intellectual disability; Macrocephaly; Focal cortical dysplasia Review for gene: RHEB was set to GREEN Added comment: No new publications since last PanelApp review. Reviewed PMID: 29051493 supplementary information - three individuals with short stature and macrocephaly. Limited antenatal information provided/birth HC parameters, but one of the affected individuals was noted to have a large head circumference from 20 weeks gestation. PMID 31337748: Somatic variant in this gene found in one individual with focal cortical dysplasia. --- 3 individuals from two families with heterozygous RHEB variants. Two siblings carried the c.110 C > T (p.Pro37Leu) variant, and a sporadic individual carried the c.202 T>C (p.Ser68Pro) allele. All 3 individuals had short stature (−2 to −3 SD) and early brain overgrowth with pronounced macrocephaly during childhood (+2.5/+3 SD). They had severe to profound ID with hypotonia, as well as autism spectrum disorder. 2 of 3 individuals were reported to have epilepsy. In a zebrafish model, overexpression of RHEB produced megalencephaly, supporting a hyperactivating effect. This is supported in mice where loss of RHEB activity does not cause an overt neurological phenotype Single individual with somatic variants in this gene and focal cortical dysplasia also reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4403 | SEPSECS | Zornitza Stark Publications for gene: SEPSECS were set to 26805434; 26888482; 29464431 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4402 | SETD5 | Zornitza Stark Marked gene: SETD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4402 | SETD5 | Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4402 | SETD5 | Zornitza Stark Phenotypes for gene: SETD5 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 to Intellectual disability, autosomal dominant 23 (MIM # 615761) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4401 | SETD5 | Zornitza Stark Publications for gene: SETD5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4399 | SHH | Zornitza Stark Publications for gene: SHH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4396 | SHOC2 | Zornitza Stark Publications for gene: SHOC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4392 | PPP2R5C |
Krithika Murali gene: PPP2R5C was added gene: PPP2R5C was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R5C were set to 25972378 Phenotypes for gene: PPP2R5C were set to macrocephaly; overgrowth Review for gene: PPP2R5C was set to AMBER Added comment: x1 case only in the literature with relative macrocephaly noted at birth. PMID: 25972378 - Loveday et al 2015 undertook trio exome sequencing in children with an overgrowth syndrome phenotype with unaffected parents. One individual with a de novo PPP2R5C c.468_470delAAC p.Thr157del variant identified. The proband had moderate ID, was born at 37 weeks gestation weighing 3100g (0.8SD) with a head circumference of 36cm (2.4SD). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4392 | SIL1 | Zornitza Stark Publications for gene: SIL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4388 | SIX3 | Zornitza Stark Publications for gene: SIX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4385 | SLC10A7 | Zornitza Stark Publications for gene: SLC10A7 were set to 29878199; 30082715 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4383 | SLC13A5 | Zornitza Stark Phenotypes for gene: SLC13A5 were changed from EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4382 | SLC13A5 | Zornitza Stark Publications for gene: SLC13A5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4380 | SLC16A2 | Zornitza Stark Publications for gene: SLC16A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4378 | SLC16A2 | Zornitza Stark edited their review of gene: SLC16A2: Added comment: Clinical presentation is typically post-natal, including microcephaly of post-natal onset.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4376 | SLC35A2 | Zornitza Stark Publications for gene: SLC35A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4374 | SLC35C1 | Zornitza Stark Publications for gene: SLC35C1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4371 | SLC35D1 | Zornitza Stark Publications for gene: SLC35D1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4369 | SLC39A8 | Zornitza Stark Publications for gene: SLC39A8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4366 | SMARCA2 | Zornitza Stark Publications for gene: SMARCA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4362 | SMARCA4 | Zornitza Stark Publications for gene: SMARCA4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4354 | SMO | Zornitza Stark Publications for gene: SMO were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4350 | SMOC1 | Zornitza Stark Publications for gene: SMOC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4348 | SMPD1 | Zornitza Stark Publications for gene: SMPD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4347 | ZNF668 | Zornitza Stark Publications for gene: ZNF668 were set to PMID: 34313816, 26633546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4345 | YRDC | Zornitza Stark Publications for gene: YRDC were set to PMID: 31481669, 34545459 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4324 | EXOC7 | Zornitza Stark Publications for gene: EXOC7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4317 | TUBGCP2 |
Chirag Patel gene: TUBGCP2 was added gene: TUBGCP2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP2 were set to PMID: 31630790 Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737 Review for gene: TUBGCP2 was set to GREEN Added comment: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum. 4 unrelated patients with homozygous or compound heterozygous mutations in the TUBGCP2 gene, found by WES and segregated with the disorder in all families. Functional studies of the variants were not performed, but analysis of patient fibroblasts derived from the patient with a splice site mutation demonstrated the production of several abnormal transcripts that were predicted to result in a loss of function. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4311 | VPS4A |
Chirag Patel gene: VPS4A was added gene: VPS4A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS4A were set to PMID: 33186543; 33186545 Phenotypes for gene: VPS4A were set to CIMDAG syndrome MIM# 619273 Review for gene: VPS4A was set to GREEN Added comment: CIMDAG syndrome is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia. Eight unrelated patients with de novo heterozygous missense mutations in the VPS4A gene. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4305 | VPS50 |
Chirag Patel gene: VPS50 was added gene: VPS50 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS50 were set to PMID: 34037727 Phenotypes for gene: VPS50 were set to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Review for gene: VPS50 was set to AMBER Added comment: Schneeberger et al (2021 - PMID: 34037727) describe the phenotype of 2 unrelated individuals with biallelic VPS50 variants. Common features included transient neonatal cholestasis, failure to thrive, severe DD with failure to achieve milestones (last examination at 2y and 2y2m respectively), postnatal microcephaly, seizures (onset at 6m and 25m) and irritability. There was corpus callosum hypoplasia on brain imaging. Both individuals were homozygous for variants private to each family (no/not known consanguinity applying to each case). The first individual was homozygous for a splicing variant (NM_017667.4:c.1978-1G>T) and had a similarly unaffected sister deceased with no available DNA for testing. The other individual was homozygous for an in-frame deletion (c.1823_1825delCAA / p.(Thr608del)). VPS50 encodes a critical component of the endosome-associated recycling protein (EARP) complex, which functions in recycling endocytic vesicles back to the plasma membrane [OMIM based on Schindler et al]. The complex contains VPS50, VPS51, VPS52, VPS53, the three latter also being components of GARP (Golgi-associated-retrograde protein) complex. GARP contains VPS54 instead of VPS50 and is required for trafficking of proteins to the trans-golgi network. Thus VPS50 (also named syndetin) and VPS54 function in the EARP and GARP complexes, to define directional movement of their endocytic vesicles [OMIM based on Schindler et al]. The VPS50 subunit is required for recycling of the transferrin receptor. As discussed by Schneeberger et al (refs provided in text): - VPS50 has a high expression in mouse and human brain as well as throughout mouse brain development. - Mice deficient for Vps50 have not been reported. vps50 knockdown in zebrafish results in severe developmental defects of the body axis. Knockout mice for other proteins of the EARP/GARP complex (e.g. Vps52, 53 and 54) display embryonic lethality. Studies performed by Schneeberger et al included: - Transcript analysis for the 1st variant demonstrated skipping of ex21 (in patient derived fabriblasts) leading to an in frame deletion of 81 bp (r.1978_2058del) with predicted loss of 27 residues (p.Leu660_Leu686del). - Similar VPS50 mRNA levels but significant reduction of protein levels (~5% and ~8% of controls) were observed in fibroblasts from patients 1 and 2. Additionally, significant reductions in the amounts of VPS52 and VPS53 protein levels were observed despite mRNA levels similar to controls. Overall, this suggested drastic reduction of functional EARP complex levels. - Lysosomes appeared to have similar morphology, cellular distribution and likely unaffected function in patient fibroblasts. - Transferrin receptor recycling was shown to be delayed in patient fibroblasts suggestive of compromise of endocytic-recycling function. As the authors comment, the phenotype of both individuals with biallelic VPS50 variants overlaps with the corresponding phenotype reported in 15 subjects with biallelic VPS53 or VPS51 mutations notably, severe DD/ID, microcephaly and early onset epilepsy, CC anomalies. Overall, for this group, they propose the term "GARP and/or EARP deficiency disorders". There is no VPS50-associated phenotype in OMIM or G2P. SysID includes VPS50 among the ID candidate genes. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4303 | VPS51 |
Chirag Patel gene: VPS51 was added gene: VPS51 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS51 were set to PMID: 30624672; 31207318 Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606 Review for gene: VPS51 was set to AMBER Added comment: Pontocerebellar hypoplasia type 13 (PCH13) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment. Two families reported with bi-allelic variants in this gene. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4301 | WDR37 |
Chirag Patel gene: WDR37 was added gene: WDR37 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR37 were set to PMID: 31327508, 31327510 Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome MIM#618652 Review for gene: WDR37 was set to GREEN Added comment: Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed. Nine unrelated patients reported with de novo missense mutations in the WDR37 gene. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4299 | WDR4 |
Chirag Patel gene: WDR4 was added gene: WDR4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR4 were set to PubMed: 26416026; 28617965 Phenotypes for gene: WDR4 were set to Microcephaly, growth deficiency, seizures, and brain malformations, OMIM # 618346 Review for gene: WDR4 was set to GREEN Added comment: Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) is a severe autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Additional features include optic atrophy, early-onset seizures, dysmorphic facial features, and brain malformations, such as partial agenesis of the corpus callosum and simplified gyration. Biallelic variants in the WDR4 gene reported in 4 patients from 3 unrelated families. Studies of patient cells in one family and modeling of the corresponding mutation in yeast showed that the mutation caused a significant reduction in m(7)G46 methylation of specific tRNAs species, particularly at higher temperatures. This was associated with a growth defect in yeast, thus offering a potential mechanism for the growth defects observed in patients with the mutation. The findings suggested that abnormal tRNA modification is a major contributor to disease pathogenesis. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4297 | YIPF5 |
Chirag Patel gene: YIPF5 was added gene: YIPF5 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIPF5 were set to PMID: 33164986 Phenotypes for gene: YIPF5 were set to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Review for gene: YIPF5 was set to GREEN Added comment: 6 patients from 5 consanguineous families who had microcephaly, epilepsy, and diabetes syndrome (MEDS). All had severe microcephaly (standard deviation of -6.2); epilepsy diagnosed at ages ranging from 1 to 7 months; and neonatal/early-onset diabetes. All patients had low birth weight consistent with reduced insulin secretion in utero. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4295 | YIF1B |
Chirag Patel gene: YIF1B was added gene: YIF1B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIF1B were set to PMID: 32006098; 26077767 Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, MIM# 619125 Review for gene: YIF1B was set to GREEN Added comment: Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development, peripheral spasticity, dystonia, impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly. Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood. 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4294 | NFIB |
Krithika Murali gene: NFIB was added gene: NFIB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIB were set to 30388402; 33130023; 32902921 Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development - MIM#618286 Review for gene: NFIB was set to GREEN Added comment: NFIB haploinsufficiency associated with syndromic ID. Macrocephaly and corpus callosum anomalies are recurrent phenotypic features. OMIM notes macrocephaly postnatal in onset, but review of published cases shows some instances of relative macrocephaly at birth. Also corpus callosal anomalies - agenesis and dysgenesis, noted on MRI-B in childhood but possibility of detecting this antenatally in future cases. 2 unrelated individuals reported with minor cardiac anomalies also. --- OMIM notes macrocephaly postnatal in onset. PMID: 30388402 - 18 individuals reported, of whom 11 had deletions of this gene and the rest had SNVs. Relative macrocephaly noted based on growth parameters in 4 individuals (e.g. x1 male with BW 22nd centile and HC 99th centile in an apparently uncomplicated pregnancy) - macrocephaly became more pronounced with age. In addition, 2 individuals had congenital cardiac anomalies (x1 small VSD and x1 narrow pulmonary artery) and 2 individuals had complete agenesis of the corpus callosum. 33130023 - Report one affected individual. Birth weight was 4.13 kg (Z-score 1.50, 93rd percentile), length was 52 cm (Z-score 1.12, 87th percentile) and his head circumference was 37 cm (Z-score 2.00, 98th percentile). MRI-B at 12 months confirmed agenesis of the corpus callosum 32902921 - report one patient with normal antenatal history, no birth HC provided, macrocephaly noted at 7 months. MRI-B showed mild dysgensis of the corpus callosum age 5. 2nd unrelated patient's birth weight 3.43 kg(57th centile,Zscore 0.17), length 52.8 cm (94th centile, Zscore1.54), and OFC 37.5 cm (99th centile,Zscore 2.39). MRI-B age 5 showed dysgenesis of the corpus callosum. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4293 | YRDC |
Chirag Patel gene: YRDC was added gene: YRDC was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YRDC were set to PMID: 31481669, 34545459 Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome 10, OMIM # 619609 Review for gene: YRDC was set to GREEN Added comment: Galloway-Mowat syndrome-10 (GAMOS10) is a severe autosomal recessive disorder characterized by onset of symptoms soon after birth. Affected individuals have progressive renal dysfunction with proteinuria associated with diffuse mesangial sclerosis (DMS) on renal biopsy. Other features include global developmental delay, microcephaly, hypothyroidism, arachnodactyly, and dysmorphic facial features. Some patients may have seizures or abnormalities on brain imaging. All reported patients have died in infancy. 4 individuals from 3 unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4291 | ZNF526 |
Chirag Patel gene: ZNF526 was added gene: ZNF526 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF526 were set to PMID: 33397746, 21937992, 25558065, Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia Review for gene: ZNF526 was set to GREEN Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene. - PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided. - PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, severe pre/postnatal microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4290 | PIDD1 |
Daniel Flanagan gene: PIDD1 was added gene: PIDD1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIDD1 were set to 28397838; 29302074; 33414379; 34163010 Phenotypes for gene: PIDD1 were set to Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum Review for gene: PIDD1 was set to AMBER Added comment: Doesn't appear to have an antenatal onset. Clinical findings in supplementary table for PMID: 34163010 doesn't mention any prenatal findings. For family M278, two affected siblings were "born at term after uneventful pregnancies, neonatal periods and normal development." Mean age of cohort was 13.2 years. Biallelic PIDD1 pathogenic variants have been reported in 26 individuals (11 families) with DD (all), variable degrees of ID (mild to severe), behavioral (eg. aggression/self-mutilation in several, ADHD) and/or psychiatric abnormalities (ASD, psychosis in 5 belonging to 3 families), well-controlled epilepsy is some (9 subjects from 6 families) and MRI abnormalities notably abnormal gyration pattern (pachygyria with predominant anterior gradient) as well as corpus callosum anomalies (commonly thinning) in several. Dysmorphic features have been reported in almost all, although there has been no specific feature suggested. The first reports on the phenotype associated with biallelic PIDD1 mutations were made by Harripaul et al (2018 - PMID: 28397838) and Hu et al (2019 - PMID: 29302074) [both studies investigating large cohorts of individuals with ID from consanguineous families]. Sheikh et al (2021 - PMID: 33414379) provided details on the phenotype of 15 individuals from 5 families including those from the previous 2 reports and studied provided evidence on the role of PIDD1 and the effect of variants. Zaki et al (2021 - PMID: 34163010) reported 11 additional individuals from 6 consanguineous families, summarize the features of all subjects published in the literature and review the neuroradiological features of the disorder. PIDD1 encodes p53-induced death domain protein 1. The protein is part of the PIDDosome, a multiprotein complex also composed of the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 and induces apoptosis in response to DNA damage. There are 5 potential PIDD1 mRNA transcript variants with NM_145886.4 corresponding to the longest. Similar to the protein encoded by CRADD, PIDD1 contains a death domain (DD - aa 774-893). Constitutive post-translational processing gives PIDD1-N, PIDD1-C the latter further processed into PIDD1-CC (by auto-cleavage). Serine residues at pos. 446 and 588 are involved in this autoprocessing generating PIDD1-C (aa 446-910) and PIDD1-CC (aa 774-893). The latter is needed for caspase-2 activation. Most (if not all) individuals belonged to consanguineous families of different origins and harbored pLoF or missense variants. Variants reported so far include : c.2587C>T; p.Gln863* / c.1909C>T ; p.Arg637* / c.2443C>T / p.Arg815Trp / c.2275-1G>A which upon trap assay was shown to lead to skipping of ex15 with direct splicing form exon14 to the terminal exon 16 (resulting to p.Arg759Glyfs*1 with exlcusion of the entire DD) / c.2584C>T; p.Arg862Trp / c.1340G>A; p.Trp447* / c.2116_2120del; p.Val706His*, c.1564_1565del; p.Gly602fs*26 Evidence so far provided includes: - Biallelic CRADD variants cause a NDD disorder and a highly similar gyration pattern. - Confirmation of splicing effect (eg. for c.2275-1G>A premature stop in position 760) or poor expression (NM_145886.3:c.2587C>T; p.Gln863*). Arg815Trp did not affect autoprocessing or protein stability. - Abnormal localization pattern, loss of interaction with CRADD and failure to activate caspase-2 (MDM2 cleavage assay) [p.Gln863* and Arg815Trp] - Available expression data from GTEx (PIDD1 having broad expression in multiple tissues, but higher in brain cerebellum) as well as BrainSpan and PsychEncode studies suggesting high coexpression of PIDD1, CRADD and CASP2 in many regions in the developing human brain. - Variants in other genes encoding proteins interacting with PIDD1 (MADD, FADD, DNAJ, etc) are associated with NDD. Pidd-1 ko mice (ex3-15 removal) lack however CNS-related phenotypes. These show decreased anxiety but no motor anomalies. This has also been the case with Cradd-/- mice displaying no significant CNS phenotypes without lamination defects. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4289 | ZNF668 |
Chirag Patel gene: ZNF668 was added gene: ZNF668 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF668 were set to PMID: 34313816, 26633546 Phenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism Review for gene: ZNF668 was set to AMBER Added comment: 2 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism. Immunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4287 | ZNHIT3 |
Chirag Patel gene: ZNHIT3 was added gene: ZNHIT3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNHIT3 were set to PMID: 28335020; 28335020; 31048081 Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565 Review for gene: ZNHIT3 was set to GREEN Added comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4275 | HEXB |
Krithika Murali gene: HEXB was added gene: HEXB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to 23046579; 24613245; 33407268; 27697305; 11869411; 33363784 Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms-MIM#268800 Review for gene: HEXB was set to RED Added comment: Biallelic variants associated with Sandhoff disease which includes a severe, infantile onset form. Authors of reported cases note normal antenatal and immediate postnatal course with onset of phenotypic features generally from 2 months of age onwards. Note subset with cardiomyopathy and secondary valvular incompetence, not congenital heart defects. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | GTPBP2 |
Ain Roesley gene: GTPBP2 was added gene: GTPBP2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272 Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome MIM#617988 Review for gene: GTPBP2 was set to GREEN gene: GTPBP2 was marked as current diagnostic Added comment: Nine individuals from six unrelated families microcephaly noted but measurements at birth not provided. 1x weight 5th percentile and OFC 25-50 percentile scoliosis consistently reported Other features include clenched hands, talipes, abnormal brain imaging, pectus excavatum Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | MCF2 |
Daniel Flanagan gene: MCF2 was added gene: MCF2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MCF2 were set to 31846234 Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria Review for gene: MCF2 was set to RED Added comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | MAN2C1 |
Daniel Flanagan gene: MAN2C1 was added gene: MAN2C1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2C1 were set to 35045343 Phenotypes for gene: MAN2C1 were set to MAN2C1-related neurodevelopmental disorder MONDO:0700092 Review for gene: MAN2C1 was set to GREEN Added comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense. *3 unrelated individuals presented polymicrogyria Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | INTS8 |
Daniel Flanagan gene: INTS8 was added gene: INTS8 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS8 were set to 28542170 Phenotypes for gene: INTS8 were set to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (MIM#618572) Review for gene: INTS8 was set to RED Added comment: Single family with three affected sibs with compound het INTS8 variants, Microcephaly, Cerebellar hypoplasia, Nodular heterotopia. Some functional evidence. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | GRM7 |
Ain Roesley gene: GRM7 was added gene: GRM7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM7 were set to 32286009; 32248644 Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities MIM#618922 Review for gene: GRM7 was set to GREEN gene: GRM7 was marked as current diagnostic Added comment: progressive/post-natal microcephaly consistently reported 6 families with 11 affecteds 5 of the pregnancies were complicated by polyhydramnios/decreased fetal movements Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | ERMARD |
Daniel Flanagan gene: ERMARD was added gene: ERMARD was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ERMARD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERMARD were set to 27087860; 24056535 Phenotypes for gene: ERMARD were set to Periventricular nodular heterotopia 6 (MIM#615544) Review for gene: ERMARD was set to RED Added comment: Single individual described with heterozygous ERMARD missense and periventricular nodular heterotopia, developmental delay and epilepsy. PMID: 27087860. Fetus was diagnosed by prenatal ultrasound with symmetric bilateral ventriculomegaly. The fetus carried a 0.78-Mb deletion of chromosomal region 6q27 (ERMARD included). Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | GPT2 |
Ain Roesley gene: GPT2 was added gene: GPT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPT2 were set to 25758935; 27601654; 28130718; 29226631; 29882329; 31471722 Phenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia MIM#616281 Review for gene: GPT2 was set to RED gene: GPT2 was marked as current diagnostic Added comment: post-natal microcephaly of note; 1x family where fisting was observed in a 4 yr old 1x adducted thumbs and scoliosis a handful had reduced white matter volume and/or thin corpus callosum Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | GON7 |
Ain Roesley gene: GON7 was added gene: GON7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GON7 were set to 31481669 Phenotypes for gene: GON7 were set to Galloway-Mowat syndrome 9, MIM# 619603 Review for gene: GON7 was set to GREEN gene: GON7 was marked as current diagnostic Added comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. post-natal microcephaly and brain malformations such as cerebellar atrophy, atrophic/thin corpus callosum. Cranial imaging done as young as 6 months. Maybe detectable antenatally Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | EOMES |
Daniel Flanagan gene: EOMES was added gene: EOMES was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: EOMES was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOMES were set to 17353897 Phenotypes for gene: EOMES were set to microcephaly; polymicrogyria; corpus callosum agenesis Review for gene: EOMES was set to RED Added comment: Single family with homozygous balanced translocation between chromosomes 3p and 10q affecting EOMES. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | GOLGA2 |
Ain Roesley gene: GOLGA2 was added gene: GOLGA2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOLGA2 were set to 34424553; 26742501; 30237576 Review for gene: GOLGA2 was set to GREEN gene: GOLGA2 was marked as current diagnostic Added comment: 3x unrelated families 1x noted with a smaller head at birth head circumference 32.5 cm (7th percentile). weight 3.22 kg (37th percentile), length 49.5 cm (53rd percentile) Nonspecific cerebral volume loss / cortical atrophy with delayed myelination and thin corpus callosum reported in all post-natally. Maybe detectable antenatally Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | ENO1 |
Daniel Flanagan gene: ENO1 was added gene: ENO1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ENO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENO1 were set to 32488097 Phenotypes for gene: ENO1 were set to Polymicrogyria; microcephaly Review for gene: ENO1 was set to RED Added comment: ENO1 identified as a polymicrogyria candidate gene from the smallest case of 1p36 duplication reported to date, in a 35yo F (onset at 8mo) presenting intellectual disability, microcephaly, epilepsy and perisylvian polymicrogyria. The duplication only encompassed 2 genes, ENO1 and RERE, and gene expression analysis performed using the patient cells revealed reduced expression, mimicking haploinsufficiency. Eno1 inactivation in rats was shown to cause a brain development defect. According to OMIM, ENO1 is deleted in glioblastoma, which is tolerated by the expression of ENO2. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | CEP85L |
Daniel Flanagan gene: CEP85L was added gene: CEP85L was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEP85L were set to 32097630 Phenotypes for gene: CEP85L were set to Lissencephaly 10, posterior predominant (MIM618873) Review for gene: CEP85L was set to RED Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. Earliest symptom onset 5 months, most develop seizures after several years. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | HEXA |
Krithika Murali gene: HEXA was added gene: HEXA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to Tay-Sachs disease - MIM#272800 Review for gene: HEXA was set to RED Added comment: Associated features not reported prenatally or at birth. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | FOXR1 |
Ain Roesley gene: FOXR1 was added gene: FOXR1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXR1 were set to 34723967 Phenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay Review for gene: FOXR1 was set to AMBER gene: FOXR1 was marked as current diagnostic Added comment: 1 individual with functional studies done for the specific variant post-natal microcephaly with progressive brain atrophy from 1 yr onwards Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | HERC1 |
Krithika Murali gene: HERC1 was added gene: HERC1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117 Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011 Review for gene: HERC1 was set to GREEN Added comment: Multiple individuals reported with macrosomia and macrocephaly detected at birth. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | FDXR |
Ain Roesley gene: FDXR was added gene: FDXR was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 30250212; 28965846 Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, MIM# 617717 Review for gene: FDXR was set to RED gene: FDXR was marked as current diagnostic Added comment: Bi-allelic variants in FDXR cause an autosomal recessive neurologic disorder characterised by onset of visual and hearing impairment in the first or second decades. Two individuals described with a more severe phenotype, including one with microcephaly. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | CDK5 |
Daniel Flanagan gene: CDK5 was added gene: CDK5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5 were set to 25560765 Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia (MIM#616342) Review for gene: CDK5 was set to RED Added comment: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent. Head circumference at the low-normal range (5th–25th percentile). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | EXOC7 |
Ain Roesley gene: EXOC7 was added gene: EXOC7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy MIM#619072 Review for gene: EXOC7 was set to GREEN gene: EXOC7 was marked as current diagnostic Added comment: 4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | DYNC1I2 |
Ain Roesley gene: DYNC1I2 was added gene: DYNC1I2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC1I2 were set to 31079899 Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 Review for gene: DYNC1I2 was set to GREEN gene: DYNC1I2 was marked as current diagnostic Added comment: 5 affecteds from 3 families 1x microcephaly at birth and head ultrasound at 2 months detected absent corpus callosum. Furthermore, abrain MRI revealed the absence of the rostrum and genu ofthe corpus callosum and partial absence of the splenium,as well as absence of the septum pellucidum and megacisterna magna. 1x microcephaly at birth (-2 SD). Brain MRI at 3 months of age re-vealed a hypoplastic corpus callosum, prominent ventri-cles, reduced white matter volume, and simplified gyralpattern Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | FIBP |
Krithika Murali gene: FIBP was added gene: FIBP was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIBP were set to 27183861; 26660953 Phenotypes for gene: FIBP were set to Thauvin-Robinet-Faivre syndrome - MIM#617107 Review for gene: FIBP was set to AMBER Added comment: Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor. 2 unrelated families reported. 27183861 - report one family with 3 affected children. Prenatally relevant phenotypic features include: - congenital heart disease in one child - preterm delivery and bilateral talipes equinovarus 2nd child - cystic kidney disease, nephromegaly and polyhydramnios 3rd child 26660953 - report one child with ventricular septal defect, mitral valve prolapse, renal malrotation with left bifid ureter, macrocephaly and macrosomia noted at birth. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | B3GNT2 |
Daniel Flanagan gene: B3GNT2 was added gene: B3GNT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: B3GNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GNT2 were set to 23359570; 23877401 Phenotypes for gene: B3GNT2 were set to Walker-Warburg syndrome Review for gene: B3GNT2 was set to AMBER Added comment: Only 2 families reported PMID: 23877401. Homozygous frameshift in B3GNT1 identified in a proband born with occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis. PMID: 23359570. Family with two homozygous B3GNT1 missense in affected. 4 pregnancies with abnormalities identified by ultrasound, including: hydrocephalus with the lateral ventricles, severe cerebral ventriculomegaly, cystic dysplastic kidney Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | CTNNA2 |
Ain Roesley gene: CTNNA2 was added gene: CTNNA2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNA2 were set to 30013181 Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Review for gene: CTNNA2 was set to GREEN gene: CTNNA2 was marked as current diagnostic Added comment: acquired microcephaly. Pachygyria is also a feature, which can be detectable in a prenatal MRI, though none of the reports thus far were diagnosed antenatally 3 families with 7 affecteds Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | DICER1 |
Krithika Murali gene: DICER1 was added gene: DICER1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DICER1 were set to 27960159; 29343557; 26227654; 33208384; 35114704; 31232238; 24676357 Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic - MIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - MIM#138800; Pleuropulmonary blastoma - MIM#601200 Review for gene: DICER1 was set to GREEN Added comment: Heterozygous pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic somatic missense DICER1 variants in the RNase IIIb domain are linked to GLOW syndrome (global developmental delay, lung cysts, overgrowth, and Wilms’ tumor) syndrome. While the DICER1 syndrome is classically caused by frameshift, nonsense or other mutations that ablate DICER1 function in a true heterozygous state, GLOW-syndrome mutations occur at specific residues within the RNase IIIb domain that only affect the function of this domain. Both syndromes have been reported to have features that can be detected prenatally. PMID 33208384 - report a patient with heterozygous germline DICER1 variant. The patient was born at gestational week 39 after a difficult delivery due to macrocephaly. Clinical findings at birth included two blood vessels in the umbilical cord, undescended testis, inguinal hernia, postaxial polydactyly, ear pits and rocker bottom feet. PMID: 34331184 - report 4 unrelated families with germline DICER1 variants. In family 1 - one child was born with Pierre Robin sequence, shortening of the left arm and leg and bilateral hip dysplasia. In Family 2 a child had macrosomia and macrocephaly at birth. Family 4 - born at 33 weeks, dysmorphic facies including hypertelorism and macroglossia. PMID 24676357 - report 2 unrelated children with GLOW syndrome. Patient 1 was noted to have enlarged kidneys on 24 week ultrasound. At birth was found to have renal and pulmonary cysts. Patient 2 - macrocephaly was noted at birth. DICER1 implicated in ~60% of PPB - reports of PPB detecteed antenatally, although no reports in the context of confirmed DICER1 syndrome. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4272 | COLGALT1 | Zornitza Stark Publications for gene: COLGALT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | COPB2 |
Ain Roesley gene: COPB2 was added gene: COPB2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COPB2 were set to 29036432; 34450031 Phenotypes for gene: COPB2 were set to Microcephaly 19, primary, autosomal recessive, MIM# 617800 Review for gene: COPB2 was set to RED gene: COPB2 was marked as current diagnostic Added comment: IUGR or small at birth (including microcephaly) not noted for any of the probands. Fractures and osteopenia were not detected antenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | ARF1 |
Daniel Flanagan gene: ARF1 was added gene: ARF1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARF1 were set to 28868155; 34353862 Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8 (MIM#618185) Review for gene: ARF1 was set to RED Added comment: Three unrelated individuals reported with de novo missense in this gene. PMID: 34353862: Additional report of affected parent and child. 1 patient had microcephaly in teens but normal head circumference at first examination. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | ATXN2L |
Krithika Murali gene: ATXN2L was added gene: ATXN2L was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ATXN2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN2L were set to 33283965; 33057194 Phenotypes for gene: ATXN2L were set to macrocephaly; intellectual disability Review for gene: ATXN2L was set to AMBER Added comment: Combined data from three large exome groups identified several de novo variants, including frameshift and missense, in ATXN2L in patients with developmental delay (Kaplanis et al., 2020). pLI=1.0 33283965 - Single case report of a novel de novo missense variant in a child with macrocephaly and developmental delay. No functional work. Macrocephaly was detected prenatally. This together with breech presentation resulted in elective C-section at 36 weeks. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | COPB1 |
Ain Roesley gene: COPB1 was added gene: COPB1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COPB1 were set to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts Review for gene: COPB1 was set to RED gene: COPB1 was marked as current diagnostic Added comment: Two unrelated families, some supportive functional data. Microcephaly is not a consistent feature in the families reported to date. Cataracts were also post-natal Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | CHKA |
Ain Roesley gene: CHKA was added gene: CHKA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKA were set to 35202461 Phenotypes for gene: CHKA were set to neurodevelopmental disorder, CHKA-related MONDO#0700092 Review for gene: CHKA was set to RED gene: CHKA was marked as current diagnostic Added comment: post-natal microcephaly and short stature. Symptoms which were present within the first few months post birth include developmental delay and seizures Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | CENPE |
Ain Roesley gene: CENPE was added gene: CENPE was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CENPE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPE were set to 24748105; 30086807 Phenotypes for gene: CENPE were set to Microcephaly 13, primary, autosomal recessive (MIM#616051) Review for gene: CENPE was set to RED gene: CENPE was marked as current diagnostic Added comment: PMID: 24748105; - 2 siblings from non-consanguineous family of European descent - patient A: at birth, OFC of -5SD which progressed to -9SD at 5 years of age - patient B: no measurement at birth but OFC was -7SD at 3 years of age - cHet for 2 missense *no new reports since. A review of AR primary microcephaly in 2018 still states just 1 family (PMID: 30086807) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | CDK6 |
Ain Roesley gene: CDK6 was added gene: CDK6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDK6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK6 were set to 23918663 Phenotypes for gene: CDK6 were set to Microcephaly 12, primary, autosomal recessive, MIM#616080 Review for gene: CDK6 was set to AMBER gene: CDK6 was marked as current diagnostic Added comment: 1x 8-generational family with 10 affecteds unclear of microcephaly was present at birth or acquired Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | CCDC88A |
Ain Roesley gene: CCDC88A was added gene: CCDC88A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC88A were set to 30392057; 26917597 Phenotypes for gene: CCDC88A were set to PEHO syndrome-like (MIM#617507) Review for gene: CCDC88A was set to AMBER gene: CCDC88A was marked as current diagnostic Added comment: PMID: 26917597; 1x family with 3 affecteds microcephaly (birth OFC -3 - -4 SD) total of 2 consanguineous families with 5 affecteds and functional studies of KO mice Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | APC2 |
Belinda Chong gene: APC2 was added gene: APC2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APC2 were set to 31585108 Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Review for gene: APC2 was set to RED gene: APC2 was marked as current diagnostic Added comment: Onset in infancy 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4266 | PPP2R3C | Zornitza Stark Publications for gene: PPP2R3C were set to PMID: 30893644, 34714774, 34750818 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | C7orf43 |
Ain Roesley gene: C7orf43 was added gene: C7orf43 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C7orf43 were set to 30715179 Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351 Penetrance for gene: C7orf43 were set to Complete Review for gene: C7orf43 was set to AMBER gene: C7orf43 was marked as current diagnostic Added comment: HGNC approved name TRAPPC14 Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. Occipital-frontal circumferences were below2 SD at birth, with microcephaly progressing later in life Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | ATRIP |
Ain Roesley gene: ATRIP was added gene: ATRIP was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATRIP were set to 23144622 Phenotypes for gene: ATRIP were set to Seckel Syndrome Review for gene: ATRIP was set to RED gene: ATRIP was marked as current diagnostic Added comment: Red in Mendeliome - only 1 report of post-natal progressive microcephaly Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | ATP9A |
Ain Roesley gene: ATP9A was added gene: ATP9A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP9A were set to 34764295; 34379057 Phenotypes for gene: ATP9A were set to neurodevelopmental disorder, ATP9A-related MONDO#0700092 Penetrance for gene: ATP9A were set to Complete Review for gene: ATP9A was set to AMBER gene: ATP9A was marked as current diagnostic Added comment: post-natal microcephaly, 4 unrelated families 1x polyhydramnios noted and born small, weight of 3570g (−0.41 SD), a length of 50cm (−1.37 SD) and an OFC of 34cm (−1.47 SD). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | ARPC4 |
Ain Roesley gene: ARPC4 was added gene: ARPC4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARPC4 were set to 35047857 Phenotypes for gene: ARPC4 were set to neurodevelopmental disorder, ARPC4-related MONDO#0700092 Penetrance for gene: ARPC4 were set to Complete Review for gene: ARPC4 was set to RED gene: ARPC4 was marked as current diagnostic Added comment: post natal microcephaly except for 1 noted as 4% at birth 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). Core features in affected individuals include microcephaly, mild motor delays, and significant speech impairment Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | ANKLE2 |
Ain Roesley gene: ANKLE2 was added gene: ANKLE2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANKLE2 were set to 25259927; 30214071; 31735666 Phenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, MIM# 616681 Review for gene: ANKLE2 was set to GREEN gene: ANKLE2 was marked as current diagnostic Added comment: total of 4 unrelated born with microcephaly Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | AGMO |
Ain Roesley gene: AGMO was added gene: AGMO was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGMO were set to 31555905; 27000257 Phenotypes for gene: AGMO were set to neurodevelopmental disorder, AGMO-related MONDO#0700092 Penetrance for gene: AGMO were set to Complete Review for gene: AGMO was set to RED gene: AGMO was marked as current diagnostic Added comment: syndromic neurodevelopmental disorder with ID, microcephaly and epilesy reported 1x oligo-hydramnios, maternal hypothyroidism, and decreased fetal movement birth weight was 2892 g (23%) and length was 49.5 cm (50%). Head circumference was not known but noted to be 5–10% 1x uneventful pregnancy birth weight was 2977 g (55%) and length was 53.3 cm (98%) 1x siblings with post natal microcephaly Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | ADD3 |
Ain Roesley gene: ADD3 was added gene: ADD3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADD3 were set to 23836506; 29768408 Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3 MIM#617008 Penetrance for gene: ADD3 were set to Complete Review for gene: ADD3 was set to RED gene: ADD3 was marked as current diagnostic Added comment: post natal borderline microcephaly and cataract Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4264 | ADARB1 |
Ain Roesley gene: ADARB1 was added gene: ADARB1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADARB1 were set to 32220291; 32719099 Phenotypes for gene: ADARB1 were set to Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, MIM#618862 Penetrance for gene: ADARB1 were set to Complete Review for gene: ADARB1 was set to AMBER gene: ADARB1 was marked as current diagnostic Added comment: 6 unrelated families 1 microcephalic at birth (-2.2 SD) + 1 birth length at -4.3 SD Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4260 | NHS | Zornitza Stark Publications for gene: NHS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4256 | D2HGDH |
Chloe Stutterd gene: D2HGDH was added gene: D2HGDH was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: D2HGDH was set to GREEN Added comment: Antenatal features: macrocephaly, enlarged cerebral ventricles, micrognathia Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4256 | COLGALT1 |
Chloe Stutterd gene: COLGALT1 was added gene: COLGALT1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal Added comment: Antenatal features: porencephalic cyst, calcifications Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4256 | C2orf69 |
Chloe Stutterd gene: C2orf69 was added gene: C2orf69 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: C2orf69 was set to GREEN Added comment: Antenatal features: microcephaly, thin CC, Dandy-Walker malformation Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4256 | ABHD16A |
Chloe Stutterd gene: ABHD16A was added gene: ABHD16A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Added comment: Antenatal features: thin CC, joint contractures/foot deformity Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4255 | PPP2R3C |
Chirag Patel gene: PPP2R3C was added gene: PPP2R3C was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP2R3C were set to PMID: 30893644, 34714774, 34750818 Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Review for gene: PPP2R3C was set to GREEN Added comment: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (GDRM) is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. 11 unrelated families with syndromic complete gonadal dysgenesis. 9 families had 46,XY females with complete gonadal dysgenesis, but 2 families had 46,XX patients with hypergonadotropic hypogonadism, nonvisualized gonads, primary amenorrhea, and absence of secondary sexual characteristics. Variants segregated with disease in each family and were not found in ethnically matched controls or in public variant databases. The heterozygous fathers exhibited morphologic abnormalities of spermatozoa and reduced fertility. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4253 | UNC13A |
Belinda Chong gene: UNC13A was added gene: UNC13A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: UNC13A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UNC13A were set to 27648472; 28192369 Phenotypes for gene: UNC13A were set to Congenital myasthenia; dyskinesia; autism; developmental delay Review for gene: UNC13A was set to RED Added comment: One individual described with biallelic variants in this gene and a myasthenic syndrome; another individual reported with de novo variant in this gene and a different neurological phenotype (abnormal movements, developmental delay and autism). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4253 | SYT2 |
Belinda Chong gene: SYT2 was added gene: SYT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SYT2 were set to 25192047; 32776697; 32250532; 30533528 Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 Review for gene: SYT2 was set to GREEN gene: SYT2 was marked as current diagnostic Added comment: Myasthenic syndrome bi-allelic #619461- Decreased fetal movements Mono-allelic disease, PMID 25192047 and 30533528: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in three families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated. Bi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4253 | SLC25A1 |
Belinda Chong gene: SLC25A1 was added gene: SLC25A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 26870663; 31527857; 29226520 Phenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic MIM#618197; Combined D-2- and L-2-hydroxyglutaric aciduria MIM#615182 Review for gene: SLC25A1 was set to RED gene: SLC25A1 was marked as current diagnostic Added comment: Neonatal onset. Green for MIM#618197 Four unrelated families. mild congenital myasthenic syndrome. Red for MIM#615182 Five infants of two consanguineous Bedouin families of the same tribe homozygous for the same variant with EEG compatible with white matter disorder. Death usually occurs in childhood. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4252 | NHS | Alison Yeung Mode of inheritance for gene: NHS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4251 | RPH3A |
Belinda Chong gene: RPH3A was added gene: RPH3A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RPH3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPH3A were set to 29441694 Phenotypes for gene: RPH3A were set to Congenital myasthenic syndrome Review for gene: RPH3A was set to RED gene: RPH3A was marked as current diagnostic Added comment: Only one patient with a complex phenotype that included myasthenia, with compound het missense variants, of which only one variant had plausible functional expression data. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4250 | NHEJ1 | Alison Yeung Publications for gene: NHEJ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4247 | PLEC |
Belinda Chong gene: PLEC was added gene: PLEC was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEC were set to 22144912; 31509265; 21263134; 20624679; 20624679; 21109228; 28824526 Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138; Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex 5A, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723) Review for gene: PLEC was set to GREEN gene: PLEC was marked as current diagnostic Added comment: Multiple variations of EB and also associated with limb-girdle muscular dystrophy. Neonatal to Early childhood onset. However, Epidermolysis bullosa simplex 5C, with pyloric atresia MIM#612138 has prenatal manifestation of Polyhydramnios. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4246 | NEK1 | Alison Yeung Publications for gene: NEK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4244 | NEB | Alison Yeung Publications for gene: NEB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4242 | NDUFAF5 | Alison Yeung Publications for gene: NDUFAF5 were set to 30266093; 18940309; 21620786 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4239 | NDE1 | Alison Yeung Publications for gene: NDE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4238 | NBN | Alison Yeung Publications for gene: NBN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4237 | LAMA5 |
Belinda Chong gene: LAMA5 was added gene: LAMA5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LAMA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LAMA5 were set to 33242826; 29534211; 16790509; 30589377; 28735299; 30631761 Phenotypes for gene: LAMA5 were set to bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay Review for gene: LAMA5 was set to RED Added comment: Currently amber gene and appears postnatal onset (not enough information) PMID: 29534211 - Three consanguineous families with homozygous missense variants (VUS) identified in two affected siblings with paediatric nephrotic syndrome within each family. No functional studies conducted on the missense variants. PMID: 16790509 - A hypomorphic Lama5 homozygous mouse model demonstrated proteinuria, cystic kidney disease and death from progressive renal failure at 3–4 weeks of age. PMID: 24130771 - a single case focal segmental glomerulosclerosis (proteinuria) with biallelic missense variants (VUS - S1469A & V2440I). Also reports p.Gly3685Arg in 2 other cases, which has 11 homozygotes in gnomAD v2.1 PMID: 29764427, 30808327 - Four families with haematuria and proteinuria reported with digenic inheritance of a LAMA5 missense variant with a COL4A4/5 variant. One of those variants (p.His1717Tyr) has 892 homozygotes in gnomAD v2.1 PMID: 28735299, 30589377 - A single large multigenerational family with a multisystem syndrome (including ophthalmic fetures), segregating a heterozygous missense p.V3140M, and supporting knock-in mouse model that recapitulates the phenotype. PMID: 33242826 - A single family with a bent bone dysplasia in 3 affected siblings with biallelic variants, and some supporting in vitro functional assays. PMID: 28544784, 29377152 - Single family with congenital myasthenic syndrome with a homozygous missense reported twice. PMID: 30631761 - a single case with a de novo splice site variant with developmental delay, epilepsy, and hypotonia Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4234 | NACC1 | Alison Yeung Publications for gene: NACC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4231 | MYT1 | Alison Yeung Publications for gene: MYT1 were set to 28612832; 27358179 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4226 | SNRPB | Zornitza Stark Publications for gene: SNRPB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4223 | SON | Zornitza Stark Publications for gene: SON were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4220 | SOS1 | Zornitza Stark Publications for gene: SOS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4207 | ZMIZ1 |
Krithika Murali gene: ZMIZ1 was added gene: ZMIZ1 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMIZ1 were set to 30639322; 31879022 Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies - MIM#618659 Review for gene: ZMIZ1 was set to GREEN Added comment: Syndromic ID associated with multiple congenital malformations Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4207 | NME8 | Zornitza Stark Publications for gene: NME8 were set to PubMed: 12032915, 12483741, 12928894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4206 | MIA3 | Zornitza Stark Publications for gene: MIA3 were set to PMID: 32101163, 33778321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4205 | PPP2CA |
Krithika Murali gene: PPP2CA was added gene: PPP2CA was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2CA were set to 30595372 Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities - MIM#618354 Review for gene: PPP2CA was set to GREEN Added comment: Syndromic ID associated with congenital brain and heart anomalies. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4205 | PACS2 |
Krithika Murali gene: PACS2 was added gene: PACS2 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PACS2 were set to 34894068; 34859793 Phenotypes for gene: PACS2 were set to Developmental and epileptic encephalopathy 66 - MIM#618067 Review for gene: PACS2 was set to GREEN Added comment: Associated with syndromic ID/infantile onset epileptic encephalopathy. Phenotypic features include brain and cardiac malformations. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4205 | NFIA |
Krithika Murali gene: NFIA was added gene: NFIA was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIA were set to 35018717; 33973697; 32926563 Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects - MIM#613735 Review for gene: NFIA was set to GREEN Added comment: Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities and intellectual disability, with or without urinary tract defects. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4203 | NODAL | Zornitza Stark Publications for gene: NODAL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4200 | ATN1 |
Krithika Murali gene: ATN1 was added gene: ATN1 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATN1 were set to 34212383; 30827498 Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies - MIM#618494 Review for gene: ATN1 was set to GREEN Added comment: Monoallelic variants associated with syndromic ID. Phenotypic features include arthrogryposis, epilepsy and congenital malformations of the brain, heart, and genitourinary systems. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4199 | BRD4 | Zornitza Stark Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4192 | SEMA3E |
Krithika Murali gene: SEMA3E was added gene: SEMA3E was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA3E were set to 31691538; 31464029; 15235037 Phenotypes for gene: SEMA3E were set to ?CHARGE syndrome - MIM#214800 Review for gene: SEMA3E was set to AMBER Added comment: Heterozygous variant identified in a fetus given a clinical diagnosis of CHARGE syndrome. One individual with a translocation and one individual with a missense variant reported in 2004; some functional data. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4192 | TMEM53 |
Krithika Murali gene: TMEM53 was added gene: TMEM53 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM53 were set to 33824347 Phenotypes for gene: TMEM53 were set to Craniotubular dysplasia, Ikegawa type - MIM#619727 Review for gene: TMEM53 was set to RED Added comment: 33824347 Guo et al 2021 report 5 individuals from 4 unrelated Indian families with a sclerosing bone disorder. Authors report normal prenatal and early postnatal development. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4192 | SGMS2 |
Krithika Murali gene: SGMS2 was added gene: SGMS2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SGMS2 were set to 34236445; 32028018; 30779713; 34761145; 34504906 Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia - MIM#126550 Review for gene: SGMS2 was set to RED Added comment: Heterozygous variants in SGMS2 associated with childhood-onset osteoporosis and skeletal dysplasia. Evidence suggests that some heterozygous missense variants have a dominant negative effect and lead to severe bone fragility and spondylometaphyseal dysplasia, while one recurrent nonsense variant (c.148C > T, p.Arg50*) has been associated with milder bone fragility with or without cranial sclerosis (cranial doughnut lesions). No antenatal features reported in published cases including growth parameters. --- PMID 32028018 Robinson et al 2020 - provide phenotypic information for 2 unrelated individuals with c.148C > T, p.Arg50* variant. No antenatal history reported. PMID: 30779713 Pekkinen et al 2019 - identified heterozygous SGMS2 variants in 13 individuals from 6 unrelated families with early-onset osteoporosis and skeletal dysplasia. Identified recurrent nonsense variant in 4 families ( p.Arg50*) presented with childhood-onset osteoporosis with or without cranial sclerosis. 2 families had p.Ile62Ser or p.Met64Arg and. more severe phenotype including with neonatal fracture (clavicular fracture at birth), severe short stature, and spondylometaphyseal dysplasia. No antenatal phenotype/birth growth parameters provided. PMID: 34761145 Makitie et al 2021 - further examination of bone changes in two individuals already reported in Pekkinen et al 2019 paper with recurrent nonsense variant. PMID: 34504906 Basalom et al 2021 - no antenatal features reported Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4191 | UBA2 |
Chirag Patel gene: UBA2 was added gene: UBA2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBA2 were set to PMID: 31332306; 31587267 Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly Review for gene: UBA2 was set to GREEN Added comment: 2x unrelated probands with isolated split hand malformation. fs variants - 1x de novo and 1x inherited from apparent unaffected mother (no radiographs of her hand available. 1x proband with unilateral split-hand malformation (missense). Her daughter and grandson reported to have ectrofactyly but were unavailable for testing PMID: 31332306 - a single individual with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in individuals with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4189 | SCNN1B |
Chirag Patel gene: SCNN1B was added gene: SCNN1B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCNN1B were set to PubMed: 8589714 Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I - MIM#264350 Review for gene: SCNN1B was set to GREEN Added comment: Autosomal recessive pseudohypoaldosteronism type I caused by homozygous or compound heterozygous mutation in SCNN1B is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Multiple patients reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4187 | SCNN1A |
Chirag Patel gene: SCNN1A was added gene: SCNN1A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCNN1A were set to PubMed: 8589714, 31301676 Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I - MIM#264350 Review for gene: SCNN1A was set to GREEN Added comment: Autosomal recessive pseudohypoaldosteronism type I caused by homozygous or compound heterozygous mutation in SCNN1A is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Multiple patients reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4184 | PAM16 |
Chirag Patel gene: PAM16 was added gene: PAM16 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAM16 were set to PubMed: 24786642, 27354339 Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320 Review for gene: PAM16 was set to GREEN Added comment: Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia (SMDMDM) has chondrodysplasia, developmental delay, severe pre- and postnatal short stature, dysmorphic facial appearance, narrow chest, prominent abdomen, and short limbs. 5 patients from 3 unrelated families with homozygous missense mutations which segregate with disease. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4182 | NME8 |
Chirag Patel gene: NME8 was added gene: NME8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NME8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NME8 were set to PubMed: 12032915, 12483741, 12928894 Phenotypes for gene: NME8 were set to CINCA syndrome, OMIM # 607115 Review for gene: NME8 was set to GREEN Added comment: Chronic infantile neurologic cutaneous and articular (CINCA) syndrome also known as 'neonatal onset multisystem inflammatory disease,' or NOMID, is a rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. 14 families with heterozygous missense mutations in exon 3. Presenting perinatally so suitable for fetal anomalies panel. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4180 | MIA3 |
Chirag Patel gene: MIA3 was added gene: MIA3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIA3 were set to PMID: 32101163, 33778321 Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Review for gene: MIA3 was set to AMBER Added comment: Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization. Can present with IUGR antenatally. Suitable for fetal anomalies panel. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4178 | MBTPS1 |
Chirag Patel gene: MBTPS1 was added gene: MBTPS1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBTPS1 were set to PMID: 32857899; 32420688; 30046013 Phenotypes for gene: MBTPS1 were set to Skeletal dysplasia, no OMIM # Review for gene: MBTPS1 was set to GREEN Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4176 | HOXA11 |
Chirag Patel gene: HOXA11 was added gene: HOXA11 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HOXA11 were set to PubMed: 11101832 Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 , OMIM #605432 Review for gene: HOXA11 was set to AMBER Added comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. A heterozygous mutation in the HOXA11 gene was found in affected members of 2 families segregating radioulnar synostosis and amegakaryocytic thrombocytopenia. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4174 | GDF3 |
Chirag Patel gene: GDF3 was added gene: GDF3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GDF3 were set to PubMed: 19864492 Phenotypes for gene: GDF3 were set to Microphthalmia with coloboma 6, OMIM #613703; Microphthalmia, isolated 7, OMIM # 613704 Review for gene: GDF3 was set to GREEN Added comment: Ye et al. (2010) identified heterozygous missense mutations in the GDF3 gene in 3 probands with bilateral colobomatous microphthalmia. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4172 | COL27A1 |
Chirag Patel gene: COL27A1 was added gene: COL27A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL27A1 were set to PubMed: 24986830, 28276056, 28322503 Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM #615155 Review for gene: COL27A1 was set to GREEN Added comment: Steel syndrome is characterized by characteristic facies, congenital dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention. 3 families with biallelic variants reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4170 | CHST11 |
Chirag Patel gene: CHST11 was added gene: CHST11 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHST11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST11 were set to PMID: 26436107; 29514872 Phenotypes for gene: CHST11 were set to Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167 Review for gene: CHST11 was set to GREEN Added comment: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum. Two unrelated families reported, note one had a homozygous deletion. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4168 | PRDM15 |
Chirag Patel gene: PRDM15 was added gene: PRDM15 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM15 were set to PMID: 31950080 Phenotypes for gene: PRDM15 were set to Holoprosenephaly; Steroid resistant nephrotic syndrome; Multiple congenital anomalies Review for gene: PRDM15 was set to AMBER Added comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic HPE including SRNS, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data. Two additional homozygous missense identified with isolated SRNS. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4165 | RNF113A |
Chirag Patel gene: RNF113A was added gene: RNF113A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RNF113A were set to PMID: 25612912; 31793730; 31880405 Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953 Review for gene: RNF113A was set to GREEN Added comment: Four families reported, two with same variant. Clinical features include ID, microcephaly, IUGR/growth failure, hypogonadism, and sparse/brittle hair. One of the families had antenatal presentation. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4163 | RAP1B |
Chirag Patel gene: RAP1B was added gene: RAP1B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAP1B were set to PMID: 32627184; 26280580 Phenotypes for gene: RAP1B were set to Syndromic intellectual disability; short stature Review for gene: RAP1B was set to GREEN Added comment: Three unrelated individuals reported, Kabuki-like disorder (multiple malformations, microcephaly, learning difficulties, dysmorphism and other features). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4161 | RAD50 |
Chirag Patel gene: RAD50 was added gene: RAD50 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD50 were set to PMID: 19409520; 32212377; 33378670 Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118 Review for gene: RAD50 was set to GREEN Added comment: Nijmegen breakage syndrome-like disorder (NBSLD) is an autosomal recessive disorder characterized by severe prenatal growth retardation and persistent postnatal growth restriction, congenital microcephaly, borderline to mildly impaired intellectual development, normal sexual development, and radioresistant DNA synthesis with no immunodeficiency, myelodysplasia, or early neurodegeneration. Three unrelated families reported. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4157 | FRA10AC1 |
Chirag Patel gene: FRA10AC1 was added gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to PMID: 34694367 Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related Review for gene: FRA10AC1 was set to GREEN Added comment: 5 individuals from 3 unrelated families reported. Variable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4155 | DNA2 |
Chirag Patel gene: DNA2 was added gene: DNA2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to PMID: 24389050; 31045292 Phenotypes for gene: DNA2 were set to Seckel syndrome 8, MIM#615807 Review for gene: DNA2 was set to GREEN Added comment: Three families described with bi-allelic variants in this gene and a primordial dwarfism/Seckel syndrome phenotype (intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance). Note this gene is associated with multiple phenotypes. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4153 | BRD4 |
Chirag Patel gene: BRD4 was added gene: BRD4 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299 Phenotypes for gene: BRD4 were set to Cornelia de Lange syndrome (no OMIM# yet) Review for gene: BRD4 was set to GREEN Added comment: Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, prenatal onset growth retardation, and developmental delay. About 1% of patients have mutations in the BRD4 gene. % patients reported with functional evidence. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4151 | PPP1R12A |
Chirag Patel gene: PPP1R12A was added gene: PPP1R12A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP1R12A were set to PMID: 31883643 Phenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development Review for gene: PPP1R12A was set to GREEN Added comment: 12 unrelated individuals now published. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4149 | MNS1 |
Chirag Patel gene: MNS1 was added gene: MNS1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MNS1 were set to PMID: 31534215; 30148830 Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility 618948 Review for gene: MNS1 was set to GREEN Added comment: Eight families reported altogether. However, four are Amish and share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4147 | CFAP52 |
Chirag Patel gene: CFAP52 was added gene: CFAP52 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP52 were set to PMID: 25469542; 33139725 Phenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607 Review for gene: CFAP52 was set to GREEN Added comment: Five unrelated families and functional data. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4145 | CFAP45 |
Chirag Patel gene: CFAP45 was added gene: CFAP45 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP45 were set to PMID: 33139725 Phenotypes for gene: CFAP45 were set to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608 Review for gene: CFAP45 was set to GREEN Added comment: Three unrelated individuals reported with bi-alleic LOF variants, mouse model recapitulated phenotype. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4143 | EDN3 |
Chirag Patel gene: EDN3 was added gene: EDN3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDN3 were set to PMID: 8630502; 11303518; 9359047; 10231870; 30171849; 27370713 Phenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712 Review for gene: EDN3 was set to GREEN Added comment: Variants in this gene have been reported in both isolated HD and syndromic HD, variable penetrance. However, the variants reported in PMID 9359047 with isolated HD are present at high frequencies in gnomad: p.Ala17Thr >800 hets in gnomad, p.Ala224Thr >100 hets. Association with syndromic neural crest disorders is more definitive, and HD is reported in a proportion of individuals. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4140 | SOX2 | Seb Lunke Publications for gene: SOX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4138 | SOX3 | Seb Lunke Publications for gene: SOX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4136 | SOX3 | Seb Lunke Added comment: Comment on list classification: Ala Repeat expansion linked to growth hormone deficiency, but not much evidence so far, onset appears post-natal, and described brain MRI findings appear subtle. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4133 | SPAG1 | Seb Lunke Publications for gene: SPAG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4132 | RASGRP2 |
Krithika Murali gene: RASGRP2 was added gene: RASGRP2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RASGRP2 were set to 28637664; 28726538; 28762304; 30046681; 34066320; 33711653; 33376940; 32609603; 30849270; 30046681 Phenotypes for gene: RASGRP2 were set to ?Bleeding disorder, platelet-type, 18 - MIM#615888 Review for gene: RASGRP2 was set to RED Added comment: Postnatal presentation only with no antenatal features reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4132 | ALG14 |
Belinda Chong gene: ALG14 was added gene: ALG14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 23404334; 28733338; 30221345; 23404334; 28733338 Phenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031; Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036; Disorder of N-glycosylation Review for gene: ALG14 was set to GREEN gene: ALG14 was marked as current diagnostic Added comment: Three OMIM disorders however, only Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 with prenatal manifestations. 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation. The three OMIM disorders may represent a spectrum of severity for CDG. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4132 | PLEKHM1 |
Krithika Murali gene: PLEKHM1 was added gene: PLEKHM1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEKHM1 were set to 17404618; 17997709; 27291868; 27777970; 28290981 Phenotypes for gene: PLEKHM1 were set to ?Osteopetrosis, autosomal recessive 6 - MIM#611497; Osteopetrosis, autosomal dominant 3 - MIM#618107 Review for gene: PLEKHM1 was set to RED Added comment: No antenatal features reported. -- PMID: 17997709 Del Fattore et al 2008 - female proband with monoallelic variant, no antenatal features reported. PMID: 27291868 Bo et al 2016 - male proband with osteopetrosis and heterozygous de novo variant. No antenatal features reported. PMID: 28290981 Moore et al 2017 - compound het variants, osteopetrosis diagnosis in a 19 year old. No antenatal features reported. PMID: 21054159 Almarzooqi et al 2010 - heterozygous variant, infantile osteopetrosis and xanthogranuloma, uncomplicated pregnancy. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4132 | FERMT3 |
Krithika Murali gene: FERMT3 was added gene: FERMT3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT3 were set to 31068971; 34485203; 33391282; 31724816; 30412664; 25854317; 28095295; 26359933; 25072369; 22134107; 20216991; 19234463; 19234460; 18779414 Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III - MIM#612840 Review for gene: FERMT3 was set to RED Added comment: Biallelic variants associated with LAD3 syndrome (primary immunodeficiency and platelet function defects). Symptom onset reported from birth, no antenatal features reported. --- PMID: 34485203 Yahya et al 2021 - no antenatal issues reported PMID: 33391282 Kambli et al 2020 - no antenatal features reported for 5 individuals with LAD3 PMID 31068971 Shahid et al 2019 - no antenatal features PMID: 31724816 Manukjan et al 2019 - no antenatal issues reported in 1 affected individual PMID: 28095295 Palagano et al 2017 - report female proband with infantile-onset osteopetrosis and symptomatic haematological anomalies at birth requiring bone marrow transplant. Authors postulate in utero onset but no antenatal features reported. PMID: 26359933 Suratannon et al 2016 - report a female Thai proband with a milder/atypical phenotype, no antenatal features reported PMID: 25854317 Crazzolara et al 2015 - presented D7 of life with infection, bleeeding issues and noted radiologically to have dense bones. No antenatal features. PMID: 25072369 Stepensky et al 2015 - report 3 individuals with bleeding tendency from birth and onset of recurrent infections as an infant, normal antenatal history. PMID: 20357244 McDowall et al 2010 - symptom onset from birth, no antenatal features PMID: 20216991 Jurk et al 2010 - 2 affected siblings, no antenatal features reported. PMID: 19234463 Svensson et al 2009 - no antenatal features reported PMID: 19234460 Malinin et al 2009 - no antenatal features reported PMID: 19064721 Kuijpers et al 2009 - 9 individuals from 7 unrelated families, no antenatal features reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4131 | SPATA5 | Zornitza Stark Publications for gene: SPATA5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4128 | SPG11 | Zornitza Stark Publications for gene: SPG11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4126 | SPG11 |
Zornitza Stark changed review comment from: Bi-alllelic variants in this gene also cause spastic paraplegia-11 (OMIM# 604360) but also juvenile amyotrophic lateral sclerosis-5 (OMIM# 602099), and CMT2X. Same variants have been reported in association with different phenotypes, poor genotype-phenotype correlation. Recent review of >300 individuals with SPG11-related disease. Mean age at onset was 13.10 ± 3.65 years, with initial symptoms like gait disturbance (107/195, 54.87%) and intellectual disability (47/195, 24.10%). Cognitive decline (228/270, 84.44%) was the most common complex manifestation stepped by dysarthria (134/195, 68.72%), neuropathy (112/177, 63.28%), amyatrophy, sphincter disturbance (60/130, 46.15%) and ataxia (90/194, 46.39%).; to: Bi-alllelic variants in this gene also cause spastic paraplegia-11 (OMIM# 604360) but also juvenile amyotrophic lateral sclerosis-5 (OMIM# 602099), and CMT2X. Same variants have been reported in association with different phenotypes, poor genotype-phenotype correlation. Recent review of >300 individuals with SPG11-related disease. Mean age at onset was 13.10 ± 3.65 years, with initial symptoms like gait disturbance (107/195, 54.87%) and intellectual disability (47/195, 24.10%). Cognitive decline (228/270, 84.44%) was the most common complex manifestation stepped by dysarthria (134/195, 68.72%), neuropathy (112/177, 63.28%), amyatrophy, sphincter disturbance (60/130, 46.15%) and ataxia (90/194, 46.39%). Although onset of clinical features is typically in childhood or later, absent CC/CC abnormalities reported. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4125 | SPRED1 | Zornitza Stark Publications for gene: SPRED1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4121 | SRCAP | Zornitza Stark Publications for gene: SRCAP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4118 | SRD5A3 | Zornitza Stark Publications for gene: SRD5A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4116 | STAG2 | Zornitza Stark Publications for gene: STAG2 were set to 29263825; 28296084; 30158690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4114 | STAMBP | Zornitza Stark Publications for gene: STAMBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4112 | STRA6 | Zornitza Stark Publications for gene: STRA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4110 | SUMF1 | Zornitza Stark Publications for gene: SUMF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4108 | SUZ12 | Zornitza Stark Publications for gene: SUZ12 were set to 30019515; 28229514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4106 | SUZ12 | Zornitza Stark changed review comment from: Thirteen individuals from 12 families.; to: Thirteen individuals from 12 families. Overgrowth of prenatal onset, brain abnormalities reported in some. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4105 | TAF1 | Zornitza Stark Publications for gene: TAF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4103 | TAZ | Zornitza Stark Publications for gene: TAZ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4101 | TBCD | Zornitza Stark Publications for gene: TBCD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4099 | TBX1 | Zornitza Stark Publications for gene: TBX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4095 | TBX3 | Zornitza Stark Publications for gene: TBX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4092 | TBX5 | Zornitza Stark Publications for gene: TBX5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4089 | TCF4 | Zornitza Stark Publications for gene: TCF4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4086 | TCTN1 | Zornitza Stark Publications for gene: TCTN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4084 | TCTN2 | Zornitza Stark Publications for gene: TCTN2 were set to 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4082 | TCTN3 | Zornitza Stark Publications for gene: TCTN3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4080 | TFAP2A | Zornitza Stark Publications for gene: TFAP2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4077 | TFAP2B | Zornitza Stark Publications for gene: TFAP2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4068 | TGIF1 | Zornitza Stark Publications for gene: TGIF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4065 | TINF2 | Zornitza Stark Publications for gene: TINF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4062 | TMEM138 | Zornitza Stark Publications for gene: TMEM138 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4060 | TMEM165 | Zornitza Stark Publications for gene: TMEM165 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4058 | TMEM231 | Zornitza Stark Publications for gene: TMEM231 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4056 | TMEM237 | Zornitza Stark Publications for gene: TMEM237 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4054 | TMEM5 | Zornitza Stark Publications for gene: TMEM5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4052 | TMEM67 | Zornitza Stark Publications for gene: TMEM67 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4050 | TOP3A | Zornitza Stark Publications for gene: TOP3A were set to 30193137 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4046 | TPM2 | Zornitza Stark Publications for gene: TPM2 were set to 12592607; 17339586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4043 | TRAF7 | Zornitza Stark Publications for gene: TRAF7 were set to 29961569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4040 | TRAPPC9 | Zornitza Stark Publications for gene: TRAPPC9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4037 | TRIP11 | Zornitza Stark Publications for gene: TRIP11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4035 | TRIP12 | Zornitza Stark Publications for gene: TRIP12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4032 | TRIP4 | Zornitza Stark Phenotypes for gene: TRIP4 were changed from Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4030 | TSEN54 | Zornitza Stark Publications for gene: TSEN54 were set to 16470708; 20952379; 20956791 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4028 | TTC21B | Zornitza Stark Publications for gene: TTC21B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4026 | TTC8 | Zornitza Stark Publications for gene: TTC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4024 | TTN | Zornitza Stark Publications for gene: TTN were set to 29575618; 28040389; 29691892 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4022 | TUBB | Zornitza Stark Publications for gene: TUBB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4020 | TUBB2A | Zornitza Stark Publications for gene: TUBB2A were set to 28840640; 30016746; 25326637; 27770045; 24702957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4017 | TUBB2B | Zornitza Stark Publications for gene: TUBB2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4015 | TUBGCP6 | Zornitza Stark Publications for gene: TUBGCP6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4013 | UBA1 | Zornitza Stark Publications for gene: UBA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4011 | UBE3B | Zornitza Stark Publications for gene: UBE3B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4009 | UBR1 | Zornitza Stark Publications for gene: UBR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4007 | UMPS | Zornitza Stark Publications for gene: UMPS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4005 | VIPAS39 | Zornitza Stark Publications for gene: VIPAS39 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4001 | VPS33B | Zornitza Stark Publications for gene: VPS33B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3999 | VSX2 | Zornitza Stark Publications for gene: VSX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3997 | WDPCP | Zornitza Stark Publications for gene: WDPCP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3995 | WDR19 | Zornitza Stark Publications for gene: WDR19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3987 | ZNF711 | Zornitza Stark Publications for gene: ZNF711 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3985 | XPA | Zornitza Stark Publications for gene: XPA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3982 | WDR11 | Zornitza Stark Publications for gene: WDR11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3978 | WASHC5 | Zornitza Stark Publications for gene: WASHC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3976 | WAC | Zornitza Stark Publications for gene: WAC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3973 | UROC1 | Zornitza Stark Publications for gene: UROC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3971 | UPF3B | Zornitza Stark Publications for gene: UPF3B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3970 | UNC80 | Zornitza Stark Publications for gene: UNC80 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3969 | UFM1 | Zornitza Stark Phenotypes for gene: UFM1 were changed from Severe early-onset encephalopathy with progressive microcephaly, to Leukodystrophy, hypomyelinating, 14 MIM#617899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3968 | UFM1 | Zornitza Stark Publications for gene: UFM1 were set to 29868776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3967 | UFC1 | Zornitza Stark Phenotypes for gene: UFC1 were changed from Severe early-onset encephalopathy with progressive microcephaly to Neurodevelopmental disorder with spasticity and poor growth (MIM#618076) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3966 | UFC1 | Zornitza Stark Publications for gene: UFC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3963 | UBE2A | Zornitza Stark Publications for gene: UBE2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3962 | UBA5 | Zornitza Stark Phenotypes for gene: UBA5 were changed from Severe Infantile-Onset Encephalopathy to Epileptic encephalopathy, early infantile, 44 (MIM#617132) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3961 | UBA5 | Zornitza Stark Publications for gene: UBA5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3959 | TUSC3 | Zornitza Stark Publications for gene: TUSC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3957 | TMEM70 | Zornitza Stark Publications for gene: TMEM70 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3953 | TGFB1 | Zornitza Stark Publications for gene: TGFB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3950 | TERT | Zornitza Stark Publications for gene: TERT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3947 | TCN2 | Zornitza Stark Publications for gene: TCN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3945 | SYNGAP1 | Zornitza Stark Publications for gene: SYNGAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3942 | STAG1 | Zornitza Stark Publications for gene: STAG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3939 | SLC9A6 | Zornitza Stark Publications for gene: SLC9A6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3937 | SLC46A1 | Zornitza Stark Publications for gene: SLC46A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3935 | SLC37A4 | Zornitza Stark Publications for gene: SLC37A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3934 | SLC37A4 |
Zornitza Stark changed review comment from: Bi-allelic LOF variants in this gene cause glycogen storage disorder. Single individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease. Sources: Literature; to: Bi-allelic LOF variants in this gene cause glycogen storage disorder. Clinical presentation is typically post-natal. Single individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3932 | SLC2A1 | Zornitza Stark Phenotypes for gene: SLC2A1 were changed from GLUT1 DEFICIENCY SYNDROME TYPE 2; GLUT1 DEFICIENCY SYNDROME TYPE 1 to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3927 | SHROOM4 | Zornitza Stark Publications for gene: SHROOM4 were set to 32565546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3924 | SDHAF1 | Zornitza Stark Publications for gene: SDHAF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3923 | SCO1 | Zornitza Stark Publications for gene: SCO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3919 | PURA | Zornitza Stark Publications for gene: PURA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3915 | ALB |
Krithika Murali gene: ALB was added gene: ALB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALB were set to 23730173; 15300429; 31057599 Phenotypes for gene: ALB were set to Analbuminemia- MIM#616000 Review for gene: ALB was set to GREEN Added comment: Biallelic variants associated with congenital analbuminaemia. Prenatal features include IUGR and oligohydramnios. Allelic condition OMIM# 615999 Mono-allelic disease and dysalbuminemic hyperthyroxinemia: gain-of-function mechanism, missense variants of ALB with increased affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3908 | RASA2 |
Krithika Murali gene: RASA2 was added gene: RASA2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RASA2 were set to 25049390 Phenotypes for gene: RASA2 were set to Noonan syndrome Review for gene: RASA2 was set to AMBER Added comment: No OMIM gene disease association. Borderline red-amber gene. No new publications since last PanelApp review in 2020 -- One previous paper from 2014 described 3 patients with Noonan Syndrome and novel variants in RASA2. No segregation or functional data on the specific variants was provided. One of the three patients had an alternative variant in a different candidate gene. A more recent review using ClinGen criteria (2018) only found the disease association to have limited evidence, with no further patients identified since the 2014 paper, and none since. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3908 | MAPK1 |
Krithika Murali gene: MAPK1 was added gene: MAPK1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK1 were set to 32721402 Phenotypes for gene: MAPK1 were set to Noonan syndrome 13 - MIM#619087 Review for gene: MAPK1 was set to GREEN Added comment: Associated with Noonan syndrome including congenital heart defects. No new publications since last PanelApp review Aug 2020 -- Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants. The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once. MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway. MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic). The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3908 | PLOD3 |
Krithika Murali gene: PLOD3 was added gene: PLOD3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 30237576; 18834968 Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency - MIM#612394 Review for gene: PLOD3 was set to GREEN Added comment: 4 unrelated families reported with biallelic PLOD3 variants and Stickler-syndrome like phenotype including antenatal phenotype of IUGR in one family. -- PMID 30237576 Maddirevula et al 2019 - report homozygous nonsense variant in a proband with dysmorphic facies, microcephaly, ptosis and contractures. No antenatal information provided. PMID 31129566 Ewans et al 2019 - report 3 affected siblings with a Stickler-syndrome like disorder. - Patient 1 had congenital nystagmus and presented with hearing loss and myopia. On examination aged 2, noted to have dysmorphic features - prominent eyes, hypertelorism, malar hypoplasia, an upturned nose, low-set ears and microretrognathia. - Patient 2 noted to have camptodactyly and clinodactyly postnatally. On examination age 5 noted to have DIP joint contractures and mild skin syndactyly. - Patient 3 - breech delivery. bilateral hand foot camptodactyly, facial dysmorphism. - No antenatal features reported. PMID 30463024 Vahidnehzad et al 2019 - report a male proband from a consanguineous Iranian Baloch family referred for assessment age 4.5. Noted to have developmental delay, musculoskeletal manifestations including scoliosis, flexion contractions, cutaneous syndactyly, right diaphragmatic eventration, ocular anomalies, growth failure and skin blisters. No concerns antenatally. Postnatally noted to have cataract and facial dysmorphism (midface hypoplasia). Homozygous PLOD3 missense variant identified, parents unaffected carriers. PLOD3 mRNA levels in the patient’s fibroblasts measured by whole-transcriptome sequencing and confirmed by RT-PCR, were the same as in control cells, however, the expression of type VII collagen was reduced significantly. No antenatal features reported. PMID: 18834968 Salo et al 2008 - a female proband with significant IUGR, characteristic craniofacial profile, diaphragm eventration, skeletal anomalies (bilateral talipes equinovarus, flexion contractures, scoliosis from age 7), skin anomalies incl blistering and ocular anomalies. One 28 week male stillborn sibling noted to have significant IUGR and skeletal anomalies on post-mortem. Supportive functional evidence. Compound het PLOD3 variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3908 | LOXL3 |
Krithika Murali gene: LOXL3 was added gene: LOXL3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOXL3 were set to 25663169; 26307084; 26957899; 29802726; 30362103; 34787502 Phenotypes for gene: LOXL3 were set to Stickler syndrome; cleft lip/palate Review for gene: LOXL3 was set to AMBER Added comment: Biallelic variants reported in association with Stickler syndrome in 2 unrelated families. Also identified in one individual with non-syndromic Pierre Robin sequence who had a CNV also. --- PMID 34787502 Sood et al 2021 - proband with non-syndromic Pierre Robin sequence - homozygous missense LOXL3 variant identified. Sibling also had non-syndromic PRS, but genetic testing declined by family. In addition 551 kb chr10q26.2 duplication identified, no parental testing information provided, not previously reported to be associated with CL/P. PMID 30362103 Chan et al 2019 - report father and son with Stickler syndrome and homozygous LOXL3 missense variants. Predominantly ocular phenotype with no antenatal features reported. PMID: 29802726 Khan et al 2018 - genotyping of 258 probands with non-syndromic cleft palate (nsCP) and their parents, focusing in particular on common missense variant p.Ile615Phe. Identified four Phe/Phe homozygotes, report significant association between infant’s homozygote Phe/Phe genotype and the risk of nsCP, compared to common Ile/Ile homozygotes PMID 26957899 Li et al 2016 - A homozygous frameshift mutation (c.39dup; p.L14Afs*21) and a compound heterozygous frameshift mutation (c.39dup; p.L14Afs*21 and c.594delG; p.Q199Kfs*35) in LOXL3 were separately identified in two of 298 probands with early-onset high myopia. PMID: 26307084 Zhang et al 2015 - Mice lacking LOXL3 exhibited perinatal lethality and were noted to have cleft palate and spinal deformity. PMID: 25663169 Alzahrani et al 2015 - homozygous variant identified in 2 children with Stickler syndrome from the same family, both children had cleft lip/palate. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3908 | PDIA6 |
Krithika Murali gene: PDIA6 was added gene: PDIA6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDIA6 were set to 33495992 Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Review for gene: PDIA6 was set to AMBER Added comment: No new publications since last PanelApp review. Single case upgraded to Amber on the basis of functional data --- 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3908 | GRK2 |
Krithika Murali gene: GRK2 was added gene: GRK2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRK2 were set to 33200460 Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD) Review for gene: GRK2 was set to AMBER Added comment: 2 unrelated families from a single study reported with supportive functional evidence. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3908 | SCN1A | Zornitza Stark Publications for gene: SCN1A were set to 29543227; 32928894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3904 | RSPH3 | Zornitza Stark Publications for gene: RSPH3 were set to 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3902 | RSPH1 | Zornitza Stark Publications for gene: RSPH1 were set to 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3900 | PTEN | Zornitza Stark Publications for gene: PTEN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3894 | PTH1R | Zornitza Stark Publications for gene: PTH1R were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3890 | PTF1A | Zornitza Stark Publications for gene: PTF1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3888 | PTDSS1 | Zornitza Stark Publications for gene: PTDSS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3885 | PSPH | Zornitza Stark Publications for gene: PSPH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3883 | POLR1D | Zornitza Stark Publications for gene: POLR1D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3878 | STAR | Zornitza Stark Publications for gene: STAR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3877 | SRD5A2 | Zornitza Stark Publications for gene: SRD5A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3875 | SOX9 | Zornitza Stark Publications for gene: SOX9 were set to 30712880; 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3872 | SOX17 | Zornitza Stark Publications for gene: SOX17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3868 | PRRT2 | Zornitza Stark Publications for gene: PRRT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3866 | PPM1D | Zornitza Stark Publications for gene: PPM1D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3863 | POLG | Zornitza Stark Publications for gene: POLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3860 | POLG |
Zornitza Stark changed review comment from: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants. Fetal presentation with cerebellar abnormalities reported PMID 29574624.; to: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants, though onset may be later. Fetal presentation with cerebellar abnormalities reported PMID 29574624. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3859 | POLD1 | Zornitza Stark Publications for gene: POLD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3855 | PDHB | Zornitza Stark Publications for gene: PDHB were set to 26865159 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3852 | NT5C2 | Zornitza Stark Publications for gene: NT5C2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3849 | NR2F1 | Zornitza Stark Publications for gene: NR2F1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3846 | NGLY1 | Zornitza Stark Publications for gene: NGLY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3844 | NFU1 | Zornitza Stark Publications for gene: NFU1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3842 | NDUFS7 | Zornitza Stark Publications for gene: NDUFS7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3840 | NDUFS4 | Zornitza Stark Publications for gene: NDUFS4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3838 | NDUFS1 | Zornitza Stark Publications for gene: NDUFS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3836 | MYT1L | Zornitza Stark Publications for gene: MYT1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3831 | MPZ |
Zornitza Stark edited their review of gene: MPZ: Added comment: Variants in this gene are associated with various types of neuropathy, most with post-natal onset. However, at the severe end of the spectrum can present antenatally with decreased fetal movements and arthrogryposis.; Changed rating: GREEN; Changed phenotypes: Hypomyelinating neuropathy, congenital, 2, MIM# 618184; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3828 | SNX14 | Zornitza Stark Publications for gene: SNX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3825 | TSHR |
Krithika Murali gene: TSHR was added gene: TSHR was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TSHR were set to 23295291; 9360555; 7800007; 18655531; 15163335 Phenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune - MIM#609152; Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 Review for gene: TSHR was set to GREEN Added comment: Heterozygous variants associated with hyperthyroidism. De novo GoF variants in particular associated with more severe, non-autoimmune congenital hyperthyroidism. Biallelic LoF variants associated with congenital hypothyroidism. Premature delivery, IUGR and fetal tachycardia are reported antenatal phenotypes. Goitre also noted at birth in some cases. Craniosynostosis also a feature, but diagnosed postnatally in the context of rapidly advancing bone age. --- PMID: 9360555 Holzapfel 1997 - report IUGR and antenatal fetal tachycardia PMID: 7800007 Kopp et al 1995 - proband born prematurely at 32 weeks gestation with BW of 1660g. Fetal tachycardia and diffuse goitre noted postnatally. PMID: 18655531 Chester et al 2008 - proband born at 34 weeks. Antenatal ultrasound had shown thickened nuchal fold. PMID: 15163335 Vaidya et al 2004 - report two siblings born premature with IUGR, heterozygous variant inherited from affected father. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3824 | MPV17 | Zornitza Stark Publications for gene: MPV17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3823 | MPI | Zornitza Stark Publications for gene: MPI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3821 | MGAT2 | Zornitza Stark Publications for gene: MGAT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3817 | MAOA | Zornitza Stark Publications for gene: MAOA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3813 | PRMT7 | Zornitza Stark Publications for gene: PRMT7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3811 | TBC1D24 | Zornitza Stark Publications for gene: TBC1D24 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3809 | PHOX2B | Zornitza Stark Publications for gene: PHOX2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3807 | PRG4 | Zornitza Stark Publications for gene: PRG4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3805 | PIEZO1 | Zornitza Stark Publications for gene: PIEZO1 were set to 23695678; 30712880; 26333996; 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3803 | PLOD2 | Zornitza Stark Publications for gene: PLOD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3801 | PLOD1 | Zornitza Stark Publications for gene: PLOD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3796 | TBC1D23 | Zornitza Stark Publications for gene: TBC1D23 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3793 | PITX2 | Zornitza Stark Publications for gene: PITX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3788 | PKD2 | Zornitza Stark Publications for gene: PKD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3785 | PKD1 | Zornitza Stark Publications for gene: PKD1 were set to 23624871; 20558538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3782 | SMARCB1 | Zornitza Stark Publications for gene: SMARCB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3780 | TALDO1 | Zornitza Stark Publications for gene: TALDO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3778 | PLK4 | Zornitza Stark Publications for gene: PLK4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3776 | SUCLG1 | Zornitza Stark Publications for gene: SUCLG1 were set to 21093335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3774 | SRY | Zornitza Stark Publications for gene: SRY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3770 | TRPS1 | Zornitza Stark Publications for gene: TRPS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3768 | TBCE | Zornitza Stark Phenotypes for gene: TBCE were changed from HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; KENNY-CAFFEY SYNDROME TYPE 1 to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410; Kenny-Caffey syndrome, type 1, OMIM #244460; Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3767 | TBCE | Zornitza Stark Publications for gene: TBCE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3764 | PEX7 | Zornitza Stark Publications for gene: PEX7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3762 | RUNX2 | Zornitza Stark Publications for gene: RUNX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3758 | RTEL1 | Zornitza Stark Publications for gene: RTEL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3756 | TPO |
Krithika Murali gene: TPO was added gene: TPO was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPO were set to 34220711; 30662777 Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A - MIM#274500 Review for gene: TPO was set to GREEN Added comment: Well-established association with thyroid dyshormonogenesis. 3 affected individuals from 2 unrelated families reported with fetal goitre. 34220711 Rodrigues et al 2021 - report 2 siblings who were diagnosed with fetal goitre on antenatal ultrasound at 26 and 32 weeks gestation. Pathogenic compound het TPO variants identified inherited from unaffected carrier parents. 30662777 - report a proband diagnosed with fetal goitre at 29 weeks gestation. Compound heterozygous TPO variants identified. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3755 | RRM2B | Zornitza Stark Publications for gene: RRM2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3752 | RPS6KA3 | Zornitza Stark Publications for gene: RPS6KA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3750 | ROR2 | Zornitza Stark Publications for gene: ROR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3748 | RNASET2 | Zornitza Stark Marked gene: RNASET2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3748 | RNASET2 | Zornitza Stark Gene: rnaset2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3748 | RNASET2 | Zornitza Stark Phenotypes for gene: RNASET2 were changed from LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY to Leukoencephalopathy, cystic, without megalencephaly MIM#612951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3747 | RNASET2 | Zornitza Stark Publications for gene: RNASET2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3746 | RNASET2 | Zornitza Stark Classified gene: RNASET2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3746 | RNASET2 | Zornitza Stark Gene: rnaset2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3744 | RNASEH2C | Zornitza Stark Publications for gene: RNASEH2C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3735 | RNASEH2B | Zornitza Stark Publications for gene: RNASEH2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3733 | RNASEH2A | Zornitza Stark Publications for gene: RNASEH2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3726 | THRB |
Krithika Murali gene: THRB was added gene: THRB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: THRB were set to 35130567; 30430796; 30074255; 28938413; 4163616 Phenotypes for gene: THRB were set to Thyroid hormone resistance, autosomal recessive - MIM#274300; Thyroid hormone resistance - MIM#188570; Thyroid hormone resistance, selective pituitary - MIM#145650 Review for gene: THRB was set to GREEN Added comment: Biallelic variants associated with thyroid hormone resistance. PMID 4163616 first reported this condition in a consanguineous Mexican family with congenital deafness, goitre and stippled epiphyses. Diagnosis was made incidentally at a later age but possibility of goitre being detected antenatally. SGA also reported but this is generally in the context of having a mother also affected by thyroid hormone resistance secondary to biallelic or monoallelic variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3725 | PHF6 | Chirag Patel reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, OMIM # 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3722 | TBL1X |
Krithika Murali gene: TBL1X was added gene: TBL1X was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBL1X were set to 30591955; 27603907 Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 - MIM#301033 Review for gene: TBL1X was set to AMBER Added comment: Associated with central congenital hypothyroidism. Antenatal phenotype not reported. Thyroid hypoplasia has been noted in affected individuals. Generally diagnosed after newborn screening or later in childhood. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3722 | TG |
Krithika Murali gene: TG was added gene: TG was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TG were set to 33832185; 19169491; 28620499; 18631008; 12915634 Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3 - MIM#274700 Review for gene: TG was set to GREEN Added comment: Well-established gene-disease association with congenital hypothyroidism and fetal goitre. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3722 | SLC5A5 |
Krithika Murali gene: SLC5A5 was added gene: SLC5A5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A5 were set to 34806438; 34726525; 33815280; 32805706; 31115276 Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1 - MIM#274400 Review for gene: SLC5A5 was set to GREEN Added comment: Biallelic variants associated with congenital hypothyroidism. PMID 32805706 Stoupa et al 2020 report an affected male with antenatal goitre diagnosed at 25 weeks gestation and treated with intraamniotic levothyroxine injections. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3721 | SLC26A7 |
Krithika Murali gene: SLC26A7 was added gene: SLC26A7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321; 29546359 Phenotypes for gene: SLC26A7 were set to Thyroid dyshormogenesis - no OMIM gene disease association Review for gene: SLC26A7 was set to GREEN Added comment: Biallelic variants associated with congenital hypothyroidism secondary to thyroid dyshormogenesis. PMID 32486989 report an affected female diagnosed with goitre D4 of life. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3721 | SLC26A4 |
Krithika Murali gene: SLC26A4 was added gene: SLC26A4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A4 were set to Pendred syndrome - MIM#274600 Review for gene: SLC26A4 was set to AMBER Added comment: Known association with congenital hypothyroidism and bilateral sensorineural hearing loss. If goitre present, manifests later in childhood. No antenatal phenotype reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3721 | PROP1 |
Krithika Murali gene: PROP1 was added gene: PROP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PROP1 were set to 15941866; 11549703; 20301521; 32415500 Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2- #262600 Review for gene: PROP1 was set to AMBER Added comment: Biallelic variants associated with panhypopituitarism. Features include central congenital hypothyroidism and hypogonadotrophic hypogonadism including micropenis. Diagnosed postnatally in infancy or early childhood due to growth failure and failure to thrive. Antenatal diagnosis not reported, although severe micropenis due to other disorders has been detected antenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3721 | RPS6KA3 | Ain Roesley reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301520; Phenotypes: Coffin-Lowry syndrome MIM#303600, Intellectual developmental disorder, X-linked 19 MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3721 | RNASET2 | Ain Roesley reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3720 | KMT2E | Zornitza Stark Publications for gene: KMT2E were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3718 | KMT2E |
Zornitza Stark changed review comment from: 38 individuals from 36 families reported. Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. Additional common features include autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.; to: Micro/macrocephaly reported, see below, age of onset uncertain. Non-specific brain abnormalities also. 38 individuals from 36 families reported. Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. Additional common features include autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3717 | KCNQ3 | Zornitza Stark Publications for gene: KCNQ3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3714 | KCNQ1 | Zornitza Stark Publications for gene: KCNQ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3710 | KARS | Zornitza Stark Publications for gene: KARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | NKX2-1 |
Krithika Murali gene: NKX2-1 was added gene: NKX2-1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NKX2-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-1 were set to 23911641; 11854319; 24714694 Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978 Review for gene: NKX2-1 was set to GREEN Added comment: Heterozygous variants associated with congenital hypothyroidism, choreathetosis with or without pulmonary dysfunction. Allelic disorder to benign hereditary chorea (118700), which is less severe. Hypoplasia of the thyroid reported in some individuals. OMIM also reports septal heart defects noted in some patients. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | IYD |
Krithika Murali gene: IYD was added gene: IYD was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IYD were set to 18434651; 18765512; 838849; 14169503 Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4 - MIM#274800 Review for gene: IYD was set to GREEN Added comment: Known association with congenital hypothyroidism secondary to thyroid dyshormonogenesis. Although antenatal diagnosis not reported, goitre known phenotypic feature. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | IRS4 |
Krithika Murali gene: IRS4 was added gene: IRS4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IRS4 were set to 34566885; 34225927; 34093435; 33107432; 30061370 Phenotypes for gene: IRS4 were set to Hypothyroidism, congenital, nongoitrous, 9- MIM#301035 Review for gene: IRS4 was set to RED Added comment: Associated with isolated central congenital hypothyroidism (insufficient pituitary TSH production). Postnatal diagnosis with no prenatal features reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | DUOXA2 |
Krithika Murali gene: DUOXA2 was added gene: DUOXA2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900 Review for gene: DUOXA2 was set to GREEN Added comment: Well-established gene disease association with congenital hypothyroidism Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | DUOXA1 |
Krithika Murali gene: DUOXA1 was added gene: DUOXA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUOXA1 were set to 31428054; 29650690 Phenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM # Review for gene: DUOXA1 was set to AMBER Added comment: No new publications since last PanelApp review Feb 2021 -- 12 cases, but digenic model with variants in other genes Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | DUOX2 |
Krithika Murali gene: DUOX2 was added gene: DUOX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DUOX2 were set to 33692749; 34019632; 34341225; 16134168 Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis 6 - MIM#607200 Review for gene: DUOX2 was set to GREEN Added comment: Well-established gene disease association with congenital hypothyroidism. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | DUOX1 |
Krithika Murali gene: DUOX1 was added gene: DUOX1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUOX1 were set to 29650690; 34019632 Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM # Review for gene: DUOX1 was set to AMBER Added comment: Gene reviewed for PanelApp in Feb 2021 - "11 cases, but digenic model, with variants in other genes". No further case reports published since. PMID 34019632 provide evidence of recapitulation of congenital hypothyroidism phenotype in duox mutant zebrafish. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | CDCA8 |
Krithika Murali gene: CDCA8 was added gene: CDCA8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDCA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDCA8 were set to 28025328; 29546359 Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism, thyroid dysgenesis, no OMIM # Review for gene: CDCA8 was set to GREEN Added comment: Gene associated with congenital hypothyroidism secondary to thyroid dysgenesis. No new publications since last PanelApp review Feb 2021 --- 4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants. GREEN for mono allelic, RED for biallelic. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | NPRL3 |
Krithika Murali gene: NPRL3 was added gene: NPRL3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL3 were set to 27173016; 26285051; 33461085 Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3- MIM#617118 Review for gene: NPRL3 was set to GREEN Added comment: Known association with focal epilepsy (variable penetrance) with focal cortical dysplasia being a reported feature. FCD has the potential to be detected prenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | NPRL2 |
Krithika Murali gene: NPRL2 was added gene: NPRL2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL2 were set to 29281825; 27173016; 31625153; 33461085; 22268191 Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2 - MIM#617116 Review for gene: NPRL2 was set to GREEN Added comment: Heterozygous NPRL2 variants associated with focal epilepsy of variable severity. Incomplete penetrance also a known feature. Probands from 3 unrelated families noted to have focal cortical dysplasia which has the potential to be detected prenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3707 | IQSEC2 | Zornitza Stark Publications for gene: IQSEC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3705 | HYDIN | Zornitza Stark Publications for gene: HYDIN were set to 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3703 | HNRNPU | Zornitza Stark Publications for gene: HNRNPU were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3700 | HECW2 | Zornitza Stark Publications for gene: HECW2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3696 | HDAC4 | Zornitza Stark Publications for gene: HDAC4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3691 | HACE1 | Zornitza Stark Publications for gene: HACE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3688 | H3F3A | Zornitza Stark Publications for gene: H3F3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3684 | GRIN2A | Zornitza Stark Publications for gene: GRIN2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3680 | GRIK2 | Zornitza Stark Publications for gene: GRIK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3676 | GRIA3 | Zornitza Stark Publications for gene: GRIA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3673 | GMPPA | Zornitza Stark Publications for gene: GMPPA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3669 | GHR | Zornitza Stark Publications for gene: GHR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3665 | DDOST | Zornitza Stark Publications for gene: DDOST were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3663 | CSTB | Zornitza Stark Publications for gene: CSTB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3662 | CSTB | Zornitza Stark changed review comment from: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Not appropriate for the ID panel.; to: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Not appropriate for the Fetal Anomalies panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3661 | GATM | Zornitza Stark Publications for gene: GATM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3659 | GATAD2B | Zornitza Stark Publications for gene: GATAD2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3655 | MYH6 | Zornitza Stark Publications for gene: MYH6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3653 | GAS8 | Zornitza Stark Publications for gene: GAS8 were set to 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3650 | GABRB3 | Zornitza Stark Publications for gene: GABRB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3647 | FTSJ1 | Zornitza Stark Publications for gene: FTSJ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3645 | FOXP1 | Zornitza Stark Publications for gene: FOXP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3642 | FLVCR1 | Zornitza Stark changed review comment from: progressive neurological condition, ID is not really part of the phenotype.; to: progressive neurological condition, postnatal onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3641 | FGF12 | Zornitza Stark Publications for gene: FGF12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3638 | FBXO11 | Zornitza Stark Publications for gene: FBXO11 were set to 30057029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3633 | ERCC6L2 | Zornitza Stark Publications for gene: ERCC6L2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3629 | ENPP1 | Zornitza Stark Publications for gene: ENPP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3625 | DUSP6 | Zornitza Stark Publications for gene: DUSP6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3622 | DMP1 | Zornitza Stark Publications for gene: DMP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3620 | DLG3 | Zornitza Stark Publications for gene: DLG3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3618 | DLAT | Zornitza Stark Publications for gene: DLAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3616 | DEAF1 | Zornitza Stark Publications for gene: DEAF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3612 | ST3GAL5 | Zornitza Stark Publications for gene: ST3GAL5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3610 | ST3GAL5 |
Zornitza Stark changed review comment from: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.; to: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported. Clinical presentation is typically post-natal. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3609 | RSPRY1 | Zornitza Stark Publications for gene: RSPRY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3607 | RSPH9 | Zornitza Stark Publications for gene: RSPH9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3605 | RSPH4A | Zornitza Stark Publications for gene: RSPH4A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3603 | RRAS2 | Zornitza Stark Publications for gene: RRAS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3599 | RRAS | Zornitza Stark Publications for gene: RRAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3597 | RPS7 | Zornitza Stark Publications for gene: RPS7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3591 | RPS23 | Zornitza Stark Publications for gene: RPS23 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3586 | MYH3 | Alison Yeung Publications for gene: MYH3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3585 | RPL35A | Zornitza Stark Publications for gene: RPL35A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3582 | RPL10 | Zornitza Stark Publications for gene: RPL10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3579 | RORA | Zornitza Stark Publications for gene: RORA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3575 | ROBO3 | Zornitza Stark Publications for gene: ROBO3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3572 | RMND1 | Zornitza Stark Publications for gene: RMND1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3569 | RLIM | Zornitza Stark Publications for gene: RLIM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3566 | RIN2 | Zornitza Stark Publications for gene: RIN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3564 | RFT1 | Zornitza Stark Publications for gene: RFT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3563 | RFT1 |
Zornitza Stark changed review comment from: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.; to: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported. Clinical presentation is typically post-natal, though age of onset of microcephaly is uncertain. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3563 | RBM10 | Zornitza Stark Publications for gene: RBM10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3560 | RBBP8 | Zornitza Stark Publications for gene: RBBP8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3557 | RAD51C | Zornitza Stark Publications for gene: RAD51C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3554 | RAD51 | Zornitza Stark Publications for gene: RAD51 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3550 | RAB11B | Zornitza Stark Publications for gene: RAB11B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3547 | RAB11A | Zornitza Stark Publications for gene: RAB11A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3543 | DLD | Zornitza Stark Publications for gene: DLD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3541 | WNT9B |
Krithika Murali gene: WNT9B was added gene: WNT9B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT9B were set to 34145744 Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia, no OMIM # Review for gene: WNT9B was set to AMBER Added comment: Now new publications since last PanelApp review Sept 2021 --- WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities. Lemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3540 | TBCK | Zornitza Stark Publications for gene: TBCK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3536 | TBX15 | Zornitza Stark Publications for gene: TBX15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3534 | TBX18 | Zornitza Stark Publications for gene: TBX18 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3531 | TBX20 | Zornitza Stark Publications for gene: TBX20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3528 | TBX4 | Zornitza Stark Publications for gene: TBX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3525 | TCF12 | Zornitza Stark Publications for gene: TCF12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3522 | TBX6 | Zornitza Stark Publications for gene: TBX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3517 | TGDS | Zornitza Stark Publications for gene: TGDS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3511 | THOC6 | Zornitza Stark Publications for gene: THOC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3510 | TBC1D1 |
Krithika Murali gene: TBC1D1 was added gene: TBC1D1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBC1D1 were set to 26572137 Phenotypes for gene: TBC1D1 were set to CAKUT Review for gene: TBC1D1 was set to GREEN Added comment: No new publications since last PanelApp review included below --- 1 heterozygous de novo frameshift variant in TBC1D1 in 1 CAKUT. 3 further CAKUT cases with three novel or rare inherited heterozygous TBC1D1 missense variants predicted to be pathogenic. TBC1D1 mutations affected Ser237-phosphorylation or protein stability and thereby act as hypomorphs. Tbc1d1 showed widespread expression in the developing murine urogenital system. A mild CAKUT spectrum phenotype, including anomalies observed in patients carrying TBC1D1 mutations, was found in kidneys of some Tbc1d1 (-/-) mice. Significantly reduced Glut4 levels were detected in kidneys of Tbc1d1 (-/-) mice and the dysplastic kidney of a TBC1D1 mutation carrier versus controls. TBC1D1 and SLC2A4 encoding GLUT4 were highly expressed in human fetal kidney. These data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype, and provide evidence that TBC1D1 mutations may contribute to CAKUT pathogenesis, possibly via a role in glucose homeostasis. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3509 | THRA | Zornitza Stark Publications for gene: THRA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3508 | SRGAP1 |
Krithika Murali gene: SRGAP1 was added gene: SRGAP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SRGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRGAP1 were set to 26026792 Phenotypes for gene: SRGAP1 were set to congenital anomalies of the kidney and urinary tract Review for gene: SRGAP1 was set to AMBER Added comment: PMID 26026792 Hwang et al report 2 unrelated families with heterozygous SRGAP1 variants. - Family 1 - proband with prenatally diagnosed multicystic dysplastic kidney, affected mother with right duplex kidney - Family 2 - proband with horseshoe kidney with a multicystic dysplastic right upper pole. Variant paternally inherited, father not available for renal ultrasound Supportive mouse models Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3506 | TMCO1 | Zornitza Stark Publications for gene: TMCO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3503 | TREX1 | Zornitza Stark Publications for gene: TREX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3502 | SLIT2 |
Krithika Murali gene: SLIT2 was added gene: SLIT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLIT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLIT2 were set to 26026792; 15130495 Phenotypes for gene: SLIT2 were set to CAKUT; vesicoureteric reflux Review for gene: SLIT2 was set to AMBER Added comment: PMID 26026792 Hwang et al 2019 - identified three unrelated individuals with CAKUT and different heterozygous SLIT2 missense mutations. - 1 patient presented with multiple bilateral subcortical renal cysts - 1 patient presented with multicystic dysplastic kidneys - 1 patient had right renal agenesis Authors provide supportive variant-specific mouse models. PMID: 34059960 Liu et al 2021 - 3 unrelated children from a Chinese Kidney Disease Database with vesicoureteric reflux had SLIT3 VUS identified PMID 19350278 Zu et al 2009 - x2 unrelated individuals with SLIT2 variants - not segregating with disease in either family Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3499 | NEDD4L | Zornitza Stark Publications for gene: NEDD4L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3495 | NDUFAF2 | Zornitza Stark Publications for gene: NDUFAF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3492 | NDUFA10 | Zornitza Stark Publications for gene: NDUFA10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3490 | NAA15 | Zornitza Stark Publications for gene: NAA15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3484 | SEMA3A |
Krithika Murali gene: SEMA3A was added gene: SEMA3A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827 Phenotypes for gene: SEMA3A were set to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease Review for gene: SEMA3A was set to GREEN Added comment: Heterozygous variants associated with isolated GnRH deficiency with or without anosmia (Kallman syndrome like). Anomalies such as unilateral renal aplasia which can be detected antenatally reported with Kallman syndrome but not published with heterozygous SEMA3A variants. More severe phenotype with biallelic SEMA3A variants reported with features detectable antenatally. PMID 33369061 Gileta et al 2021 - report x1 patient. Female proband was compound heterozygote for a nonsense variant and a multiexonic deletion of SEMA3A. Presents with postnatal short stature, congenital cardiac anomalies, dysmorphic features, hypogonadotrophic hypogonadism and anosmia. PMID 28075028 Baumann et al 2017 - report x1 patient. Homozygous LoF variants identified in a proband from a consanguineous Turkish family. Noted at birth to have a high-positioned scapulae, deformed ribs and a lateral clavicular hook. The patient also had upper/lower limb contractures and aberrant right subclavian artery. Mild facial dysmorphism, micropenis and hypogonadotrophic hypogonadism also noted in the first week of life. Postnatal short stature (length 50cm at term birth) PMID 24124006 Hofmann et al 2013 - first reported biallelic variants in a proband with postnatal short stature, skeletal anomalies of the thorax, congenital heart defect and camptodactyly Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3478 | STAT3 | Zornitza Stark reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome - MIM#147060, Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3472 | DHH | Zornitza Stark Publications for gene: DHH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3470 | DEPDC5 | Zornitza Stark Publications for gene: DEPDC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3467 | DDHD2 | Zornitza Stark Publications for gene: DDHD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3465 | DDHD1 | Zornitza Stark Publications for gene: DDHD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3464 | ROBO2 |
Krithika Murali gene: ROBO2 was added gene: ROBO2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ROBO2 were set to 18235093; 19350278; 24429398; 17357069; 26026792; 29194579; 34059960 Phenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2 - MIM#610878; CAKUT Review for gene: ROBO2 was set to GREEN Added comment: Known association with familial vesicoureteral reflux and congenital anomalies of the kidney and urinary tract. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3464 | HOXB6 |
Krithika Murali gene: HOXB6 was added gene: HOXB6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HOXB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HOXB6 were set to 17003840; 22371315 Phenotypes for gene: HOXB6 were set to Hypospadias Review for gene: HOXB6 was set to RED Added comment: PMID 17003840 Chen et al 2007 report 2 babies with hypospadias and heterozygous HOXB6 variants. Cohort of 90 unrelated Chinese patients with hypospadias and 380 controls. x1 patient - heterozygous, maternally inherited HOXB6 c.124C>A p.P42T in a child with scrotal, micropenis, bifid scrotum, cryptorchidism. Baby also has maternally inherited SRD5A2 and de novo MID1 variant. The HOXB6 variant is absent from gnomad v2, v3, not previously reported in ClinVar, minor GS change (38), moderately conserved (change in non-placental mammals), not in a region of missense constraint. x1 patient - penile hypospadias, heterozygous HOXB6 c.367T>C p.C123R. No segregation information. 5 hets (East Asian, gnomad v2), 2 hets (East Asian, gnomad v3). GS 180, conserved in mammals (changed in birds), not in a region of missense constraint, not previously reported in ClinVar, predicted to escape NMD. x2 patients with hypospadias from a single study, variants of uncertain significance. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3464 | DDC | Zornitza Stark Publications for gene: DDC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3462 | DDB2 | Zornitza Stark Publications for gene: DDB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3461 | FUZ | Zornitza Stark Publications for gene: FUZ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3458 | DBT | Zornitza Stark Publications for gene: DBT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3456 | DARS2 | Zornitza Stark Publications for gene: DARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3454 | TTC19 | Zornitza Stark Publications for gene: TTC19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3452 | CYP19A1 | Zornitza Stark Publications for gene: CYP19A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3450 | TNXB | Zornitza Stark Publications for gene: TNXB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3448 | FLRT3 | Zornitza Stark Publications for gene: FLRT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3445 | TMEM126B | Zornitza Stark Publications for gene: TMEM126B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3442 | FLAD1 | Zornitza Stark Publications for gene: FLAD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3438 | FGF17 | Zornitza Stark Publications for gene: FGF17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3435 | TEK | Zornitza Stark Publications for gene: TEK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3432 | TANGO2 | Zornitza Stark Phenotypes for gene: TANGO2 were changed from Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MIM#616878) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3431 | TANGO2 | Zornitza Stark Publications for gene: TANGO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3429 | ZFYVE26 | Zornitza Stark Publications for gene: ZFYVE26 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3427 | SYP | Zornitza Stark Publications for gene: SYP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3425 | CYC1 | Zornitza Stark Publications for gene: CYC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3423 | SURF1 | Zornitza Stark Publications for gene: SURF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3419 | STXBP1 | Zornitza Stark Publications for gene: STXBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3416 | XPC | Zornitza Stark Publications for gene: XPC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3414 | WDR45 | Zornitza Stark Publications for gene: WDR45 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3413 | COQ7 |
Krithika Murali gene: COQ7 was added gene: COQ7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to 33215859; 28125198; 31240163; 28409910; 26084283 Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8 - MIM#616733 Review for gene: COQ7 was set to GREEN Added comment: Biallelic variants associated with primary coenzyme Q10 (CoQ10) deficiency, a heterogeneous multi-system disorder including early-postnatal features such as neonatal encephalopathy, contractures. Antenatal features reported include IUGR, oligohydramnios, feetal lung hypoplasia, dysplastic kidneys. Specifically for COQ7-related CoQ10 deficiency: PMID 33215859 Hashemi et al 2020 - report two affected individuals from a consanguineous Iranian family with homozygous COQ7 variants progressive spastic paraparesis diagnosed at age 1.5-2 with normal antenatal history. PMID 31240163 Kwong et al 2019 - report a patient with compound hetereozygous COQ7 variants, encephalo‐myo‐nephro‐cardiopathy, persistent lactic acidosis, and basal ganglia lesions resulting in early infantile death. Skin fibroblast studies showed decreased combined complex II + III activity and reduction in CoQ10 level. The proband was a DCDA twin, noted to have IUGR, oligohydramnios, cardiomegaly and tricuspid regurgitation antenatally. PMID 28409910 Wang et al 2017 - no antenatal features reported in their proband PMID 26084283 Freyer et al 2015 - report x1 patient with homozygous COQ7 variant. The pregnancy was complicated by oligohydramniosis, fetal lung hypoplasia and growth retardation. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3411 | SPTBN2 | Zornitza Stark Publications for gene: SPTBN2 were set to 28636205; 29196973 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3408 | SMARCAL1 | Zornitza Stark Publications for gene: SMARCAL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3406 | SP110 | Zornitza Stark Publications for gene: SP110 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3404 | SLC6A8 | Zornitza Stark Publications for gene: SLC6A8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3401 | SLC52A3 | Zornitza Stark Publications for gene: SLC52A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | CDX2 |
Krithika Murali gene: CDX2 was added gene: CDX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDX2 were set to 29177441 Phenotypes for gene: CDX2 were set to Persistent cloaca Review for gene: CDX2 was set to AMBER Added comment: De novo heterozygous variants detected in 2 patients with persistent cloaca. This condition. can rarely be detected antenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | TLK2 |
Krithika Murali gene: TLK2 was added gene: TLK2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TLK2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TLK2 were set to 29861108; 31558842; 34821460 Phenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57 - MIM#618050 Review for gene: TLK2 was set to GREEN Added comment: Associated with syndromic ID. Potential to detect reported phenotypic features of microcephaly, IUGR, craniosynostosis (rare) antenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | STAT3 |
Krithika Murali gene: STAT3 was added gene: STAT3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 30617622; 31771449; 34366294 Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome - MIM#147060; Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952 Added comment: Well known association with Hyper IgE syndrome and multisystem autoimmune disease. Early post-natal diagnosis reported. Prenatally detectable features include craniosynostosis and IUGR. 31771449 Terry et al 2020 report a baby with a de novo heterozygous likely pathogenic STAT3 variant. Severe IUGR and oligohydramnios was noted on USS at 21 weeks gestation. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | RNU12 |
Krithika Murali gene: RNU12 was added gene: RNU12 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 34085356 Phenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations Review for gene: RNU12 was set to GREEN Added comment: No new publications since last PanelApp review July 2021 --- 5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | PJA1 |
Krithika Murali gene: PJA1 was added gene: PJA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PJA1 were set to 32530565 Phenotypes for gene: PJA1 were set to Trigonocephaly, intellectual disability Review for gene: PJA1 was set to AMBER Added comment: No new publications since last PanelApp review August 2020 -- Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | PHEX |
Krithika Murali gene: PHEX was added gene: PHEX was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHEX were set to 29791829; 16055933; 19219621; 9106524 Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant - MIM#307800 Review for gene: PHEX was set to GREEN Added comment: Well-known association with hypophosphataemic rickets with some phenotypic features potentially detectable antenatally (skeletal, craniosynostosis). Early therapeutic interventions available. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | LTBP1 |
Krithika Murali gene: LTBP1 was added gene: LTBP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to 33991472 Phenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE - MIM#619451 Review for gene: LTBP1 was set to GREEN Added comment: Homozygous premature truncating LTBP1 variants in eight affected individuals from four unrelated consanguineous families reported associated with autosomal recessive cutis laxa type IIE. Phenotypic features relevant in the prenatal setting include: - Congenital diaphragmatic hernia (1 individual) - Cleft palate (2 individuals) - Congenital heart defects - Renal anomalies (1 individual) - Microretrognathia (1 individual) - Hydrocephalus (1 individual) - Skeletal anomalies (craniosynostosis, short stature, brachydactyly, and syndactyly). Supportive patient-derived fibroblast and zebrafish studies. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | EFNA4 |
Krithika Murali gene: EFNA4 was added gene: EFNA4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EFNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFNA4 were set to 29215649; 29168297; 16540516 Phenotypes for gene: EFNA4 were set to Craniosynostosis Review for gene: EFNA4 was set to AMBER Added comment: PMID 29215649 Lee et al 2018 - Cohort of 309 individuals with craniosynostosis tested with a 20-gene panel. Report 1 individual with unicoronal CS with a likely pathogenic EFNA4 variant. PMID 29168297 Clarke et al 2018 - Study enrolled 397 probands with single suture CS. Report one maternally inherited EFNA4 VUS NM_005227.2:c.550C>T; p.(Leu184Phe) with metopic CS, x1 het in gnomad (v2), variant predicted to escape NMD, not reported in ClinVar/Decipher. PMID 16540516 Merrill et al 2006 - Tested 81 patients with non-syndromic coronal CS. 3 heterozygous EFNA4 variants detected - x2 missense variants: - c.178C>T p.H60Y -- 361 hets gnomad - c.349 C>A p.P117T - 337 hets - novel frameshift delin 471_472delCCinsA. All 3 variants inherited from unaffected parent. Functional studies on fibroblast cells from the proband with the frameshift delin variant demonstrated an alternatively spliced minor isoform of EFNA4. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3400 | DARS2 | Belinda Chong edited their review of gene: DARS2: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3396 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262 to Ebstein anomaly; Laing distal myopathy, MIM# 160500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3395 | MYH7 | Zornitza Stark Publications for gene: MYH7 were set to 22859017; 26337809; 25547560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3392 | MYH2 | Zornitza Stark Publications for gene: MYH2 were set to 15548556; 11114175; 24193343; 23388406; 20418530; 23489661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3390 | MSMO1 | Zornitza Stark Publications for gene: MSMO1 were set to 21285510; 24144731 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3387 | MRPS34 | Zornitza Stark Publications for gene: MRPS34 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3386 | MRPS34 |
Zornitza Stark changed review comment from: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy. Sources: Expert list; to: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy. Onset of microcephaly uncertain, other clinical features present post-natally. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3384 | MOGS | Zornitza Stark Publications for gene: MOGS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3379 | MITF | Zornitza Stark Publications for gene: MITF were set to 27889061 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3377 | WDR45 | Ain Roesley edited their review of gene: WDR45: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3376 | MIR17HG | Zornitza Stark Publications for gene: MIR17HG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3366 | LRBA | Zornitza Stark Phenotypes for gene: LRBA were changed from CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3364 | LONP1 | Zornitza Stark Publications for gene: LONP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3361 | LIPT2 | Zornitza Stark Publications for gene: LIPT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3359 | LIPT2 |
Zornitza Stark changed review comment from: Three individuals from two unrelated families; profound ID. Sources: Expert list; to: Three individuals from two unrelated families; onset is typically post-natal, though brain abnormalities reported in some. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3358 | LIPT1 | Zornitza Stark Publications for gene: LIPT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3356 | LIAS | Zornitza Stark Phenotypes for gene: LIAS were changed from Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation to Hyperglycinemia, lactic acidosis, and seizures, MIM#614462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3355 | LIAS | Zornitza Stark Publications for gene: LIAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3350 | KPTN | Zornitza Stark Publications for gene: KPTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3349 | KPTN | Zornitza Stark changed review comment from: 15 patients (9 from Amish families) reported with macrocephaly and intellectual disability with hom or chet variants in KPTN (PMID: 32808430).; to: 15 patients (9 from Amish families) reported with macrocephaly and intellectual disability with hom or chet variants in KPTN (PMID: 32808430). Age of onset of macrocephaly uncertain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3349 | KNL1 | Zornitza Stark Publications for gene: KNL1 were set to 26626498; 26621532; 22983954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3347 | KMT2B | Zornitza Stark Phenotypes for gene: KMT2B were changed from Complex early-onset dystonia to Dystonia 28, childhood-onset, MIM#617284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3344 | KLHL7 | Zornitza Stark Publications for gene: KLHL7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3342 | KIF5C | Zornitza Stark Publications for gene: KIF5C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3339 | KIF2A | Zornitza Stark Publications for gene: KIF2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3336 | KIF14 | Zornitza Stark Publications for gene: KIF14 were set to 29343805; 24128419; 30388224; 28892560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3332 | NEXMIF | Zornitza Stark Publications for gene: NEXMIF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3329 | NHP2 | Zornitza Stark Publications for gene: NHP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3326 | NONO | Zornitza Stark Publications for gene: NONO were set to 32397791; 26571461; 27329731; 27550220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3326 | NONO | Zornitza Stark Publications for gene: NONO were set to 32397791 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3323 | KIAA0753 | Zornitza Stark Publications for gene: KIAA0753 were set to 28220259; 29138412; 26643951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3320 | KDM1A | Zornitza Stark Publications for gene: KDM1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3316 | KCNQ5 | Zornitza Stark Publications for gene: KCNQ5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3312 | KCNJ6 | Zornitza Stark Publications for gene: KCNJ6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3308 | KCNH1 | Zornitza Stark Publications for gene: KCNH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3302 | KCNC3 | Zornitza Stark changed review comment from: Mild ID reported only in some individuals with this progressive neurological disorder.; to: Progressive neurological disorder, childhood onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3300 | JAM3 | Zornitza Stark Publications for gene: JAM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3297 | ITCH | Zornitza Stark Publications for gene: ITCH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3295 | ITCH | Zornitza Stark changed review comment from: Multiple affected individuals reported from Amish community, however, single variant, founder effect.; to: Multiple affected individuals reported from Amish community, however, single variant, founder effect. Short stature but age of onset uncertain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3294 | IRX5 | Zornitza Stark Publications for gene: IRX5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3292 | ICK | Zornitza Stark Publications for gene: ICK were set to 24853502; 19185282; 27466187; 27069622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3290 | CTNS | Zornitza Stark Phenotypes for gene: CTNS were changed from CYSTINOSIS NEPHROPATHIC TYPE; CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE to Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, nephropathic MIM#219800; Cystinosis, ocular nonnephropathic MIM#219750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3289 | CTNS | Zornitza Stark Publications for gene: CTNS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3287 | SLC52A2 | Zornitza Stark Publications for gene: SLC52A2 were set to 22740598; 24253200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3284 | SLC39A13 | Zornitza Stark Publications for gene: SLC39A13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3281 | SLC25A26 | Zornitza Stark Publications for gene: SLC25A26 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3279 | CTNS | Belinda Chong reviewed gene: CTNS: Rating: RED; Mode of pathogenicity: None; Publications: 32564281, 20301574, 9537412, 31068690; Phenotypes: Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, nephropathic MIM#219800, Cystinosis, ocular nonnephropathic MIM#219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3279 | ZBTB24 |
Krithika Murali gene: ZBTB24 was added gene: ZBTB24 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB24 were set to 32865561; 21596365; 29023266; 32061411; 21906047; 28128455; 23739126; 22786748 Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069 Review for gene: ZBTB24 was set to GREEN Added comment: Well reported association with ICF2 (immunodeficiency-centromeric instability facial anomalies syndrome 2). Patients have immunodeficiency (mainly hypo/agammaglobulinemia in the presence of B cells), recurrent infections (namely respiratory and gastrointestinal) and dysmorphic facies. Although antenatal features not thoroughly described for published cases, low birth weight has been a reported feature as well as hypertelorism and micrognathia/retrognathia - these have the potential to be detected prenatally. PMID 32865561 Helfricht et al 2020 - "loss of ZBTB24 in B cells from mice and ICF2 patients affects nonhomologous end-joining (NHEJ) during immunoglobulin class-switch recombination and consequently impairs immunoglobulin production and isotype balance". PMID 32061411 Banday. et al 2020 - report a patient with this condition and granulomatous hepatitis. Review phenotype of previously reported patients, low birth weight and facial dysmorphism including micrognathia noted in other cases. PMID 29023266 Conrad et al 2017 - describe a 17 month old boy with recurrent infections, growth failure, facial anomalies (including hyperterlorism/low set ears), and inflammatory bowel disease. No antenatal information. PMID 28128455 van den Boogaard 2017 - 5 new patients described PMID 23739126 Nitta et al 2013 - report 3 unrelated patients, x1 patient - lower birth weight and head circumference. At age 5 had macrocephaly, hyperterlorism. Noted to have bilateral hydronephrosis. x1 patient BW 2660g, micrognathia, hyperterlorism. PMID 21906047 Chouery et al 2012 - 3 siblings from a Lebanese family with novel homozygous LoF variant. Apparently normal pregnancies, at time of diagnostic assessment HC between the 5th and 15th centiles, height below the 5th percentile. Dysmorphic features including high arched palate, small chin, retrognathism and everted lower lips. PMID 22786748 Cerbone et al 2012 - report an 8 year old M of consanguineous Moroccan ancestry with ID, dysmorphic features, cafe au last macules and a large arachnoid cyst in the right temporal region, causing compression of the temporal lobe and lateral ventricle PMID 21596365 de Greef et al 2011 - report 4 new unrelated patients, no antenatal information Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3278 | SLC19A3 | Zornitza Stark Publications for gene: SLC19A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3273 | SIK1 | Zornitza Stark Publications for gene: SIK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3270 | SDHA | Zornitza Stark Publications for gene: SDHA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3265 | HIST1H4C | Zornitza Stark Publications for gene: HIST1H4C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3262 | HIST1H1E | Zornitza Stark Publications for gene: HIST1H1E were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3258 | HGSNAT | Zornitza Stark Publications for gene: HGSNAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3256 | HESX1 | Zornitza Stark Publications for gene: HESX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3252 | GTF2E2 | Zornitza Stark Publications for gene: GTF2E2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3250 | GTF2E2 | Zornitza Stark commented on gene: GTF2E2: Microcephaly reported but onset uncertain. Craniosynostosis in one individual. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3249 | GSPT2 | Zornitza Stark Publications for gene: GSPT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3246 | GRIN2D | Zornitza Stark Publications for gene: GRIN2D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3242 | GRHL2 | Zornitza Stark Publications for gene: GRHL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3240 | GPAA1 | Zornitza Stark Publications for gene: GPAA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3238 | GPAA1 |
Zornitza Stark changed review comment from: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.; to: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. Clinical presentation is typically post-natal. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3236 | CPS1 | Zornitza Stark Publications for gene: CPS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3235 | UQCC2 |
Krithika Murali gene: UQCC2 was added gene: UQCC2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCC2 were set to 24385928; 28804536 Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824 Review for gene: UQCC2 was set to GREEN Added comment: Biallelic variants associated with mitochondrial complex III deficiency. 2 unrelated families and variant-specific functional evidence/segregation information provided. PMID 24385928 Tucker et al 2013 - report a patient with homozygous splice site UQCC2 variants. Presented with severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction of consanguineous Lebanese ancestry. Supportive functional studies including using patient fibroblasts. PMID: 28804536 Feichtinger et al 2017 - report a second unrelated patient of consanguineous Turkish ancestry with UQCC2 deficiency, a female infant born at 32 weeks gestation after a a pregnancy complicated by IUGR and oligohydramnios. Followed by a fulminant postnatal course including respiratory distress syndrome, developed epileptic seizures progressing to status epilepticus, profound lactic acidosis with elevated urinary pyruvate and death at day 33 of life. Homozygous missense UQCC2 variants identified leading to a severe reduction of UQCC2 protein in patient's muscle and fibroblast cells. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3234 | GNB5 | Zornitza Stark Publications for gene: GNB5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3228 | GNAI1 | Zornitza Stark Publications for gene: GNAI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3224 | GMNN | Zornitza Stark Publications for gene: GMNN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3220 | GLIS2 | Zornitza Stark Publications for gene: GLIS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3219 | GFPT1 | Zornitza Stark Publications for gene: GFPT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3217 | GALNT2 |
Zornitza Stark changed review comment from: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. Sources: Literature; to: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. Microcephaly and poor growth but age of onset of these features is uncertain. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3216 | GABRG2 | Zornitza Stark Publications for gene: GABRG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3212 | GABRA1 | Zornitza Stark Publications for gene: GABRA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3209 | FZD5 | Zornitza Stark Publications for gene: FZD5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3207 | FUT8 | Zornitza Stark Publications for gene: FUT8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3202 | FRRS1L | Zornitza Stark Publications for gene: FRRS1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3199 | FRMPD4 | Zornitza Stark Publications for gene: FRMPD4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3195 | FOXP2 | Zornitza Stark Publications for gene: FOXP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3191 | FIG4 | Zornitza Stark Publications for gene: FIG4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3187 | FANCL | Zornitza Stark Publications for gene: FANCL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3174 | RAB39B | Zornitza Stark Publications for gene: RAB39B were set to 29152164; 20159109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3171 | PTCHD1 | Zornitza Stark Publications for gene: PTCHD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3169 | PSMB8 | Zornitza Stark Publications for gene: PSMB8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3167 | PRSS12 | Zornitza Stark Publications for gene: PRSS12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3165 | PRPS1 | Zornitza Stark Publications for gene: PRPS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3162 | PPT1 | Zornitza Stark Publications for gene: PPT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3160 | PPA2 | Zornitza Stark Publications for gene: PPA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3158 | PLP1 | Zornitza Stark Publications for gene: PLP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3156 | LDB3 | Zornitza Stark Publications for gene: LDB3 were set to 17394203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3152 | IGSF1 | Zornitza Stark Publications for gene: IGSF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | SF3B2 |
Krithika Murali gene: SF3B2 was added gene: SF3B2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SF3B2 were set to 34344887 Phenotypes for gene: SF3B2 were set to Craniofacial microsomia Review for gene: SF3B2 was set to GREEN Added comment: No new relevant published evidence since PanelApp review Aug 2021 -- Twenty individuals from seven families reported with de novo or transmitted haploinsufficient variants in SF3B2. Affected individuals had mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus resulted in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The families were ascertained from a cohort and the authors suggest that haploinsufficient variants in SF3B2 are the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | SEPT9 |
Krithika Murali gene: SEPT9 was added gene: SEPT9 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEPT9 were set to 16186812; 19451530; 19939853; 19139049; 18492087 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, MIM# 162100 Review for gene: SEPT9 was set to AMBER Added comment: No new relevant published evidence since last PanelApp review May 2021 -- Only one report identified from 2008 of dysmorphic features including cleft palate co-occurring with HNA. New gene name is SEPTIN9, also note founder variants as well as 5'UTR variants and intragenic duplications reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | PLCH1 |
Krithika Murali gene: PLCH1 was added gene: PLCH1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCH1 were set to 33820834 Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations Review for gene: PLCH1 was set to AMBER Added comment: No new published evidence since last PanelApp review April 2021 -- PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | PLEKHA5 |
Krithika Murali gene: PLEKHA5 was added gene: PLEKHA5 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLEKHA5 were set to 29805042 Phenotypes for gene: PLEKHA5 were set to cleft lip; cleft palate Review for gene: PLEKHA5 was set to AMBER Added comment: No new published evidence since last PanelApp review April 2020 --- One de novo variant reported, another 5 '3C' rare variants reported in 6 families in this cohort; unclear if monogenic or polygenic contribution to CL/P. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | PLEKHA7 |
Krithika Murali gene: PLEKHA7 was added gene: PLEKHA7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLEKHA7 were set to 29805042 Phenotypes for gene: PLEKHA7 were set to Cleft palate Review for gene: PLEKHA7 was set to AMBER Added comment: No new evidence since last PanelApp review in Jan 2021 -- Six rare variants identified in 4 individuals in a CL/P cohort, however, only one of these classified as likely pathogenic. One individual had bi-allelic variants. Some supportive functional data Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | PPP1R13L |
Krithika Murali gene: PPP1R13L was added gene: PPP1R13L was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 32666529; 28864777 Phenotypes for gene: PPP1R13L were set to Dilated cardiomyopathy, onset in infancy; Cleft lip and palate Review for gene: PPP1R13L was set to GREEN Added comment: No new information since last PanelApp review June 2021 -- At least 6 unrelated families. NMD-predicted, missense and stop-loss (extension) variants have been reported in individuals with autosomal recessive PPP1R13L-related syndrome. Patients described with biallelic pathogenic variants in PPP1R13L all had severe infantile-onset dilated cardiomyopathy, with additional features including cleft lip and palate, wedge-shaped teeth, and sparse, dry, woolly hair described in several individuals. Death due to HF progression before 5yo reported in cases that didn't receive a heart transplant. Cognitive delay also reported in two unrelated individuals (PMID: 28069640, PMID: 32666529). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | METTL23 |
Krithika Murali gene: METTL23 was added gene: METTL23 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: METTL23 were set to 32878022; 32439618; 32067349; 24626631; 24501276 Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44 - #615942 Review for gene: METTL23 was set to RED Added comment: Biallelic variants associated with syndromic ID. Published studies provide no or limited antenatal information with no consistent prenatal phenotype described. -- PMID: 32878022 – Khan et al 2020 - homozygous missense variants identified in consanguineous Pakistani family with 3 affected siblings having ID, epilepsy, behavioural issues, hypotonia and dysmorphic features (prominent large-size eyes, eyebrows, ears, short upturned nose with flat nasal bridge, and thin upper lip). Authors report that prenatal, perinatal and neonatal medical records of all patients were normal. PMID 32439618 – Smaili et al 2020 report two Moroccan siblings presenting with mild intellectual disability and dysmorphic features. WES identified homozygous METTL23 gene variants. Describe uneventful pregnancies and postnatal course. Macrocephaly reported in both siblings (HC 52cm in a 7 year old M and 50cm in 6 yo F) - no information regarding HC of parents provided, macrocephaly not a consistently reported feature of this condition. PMID: 32067349 – Almannai et al 2020 - 6 individuals from 4 families - 2 families unrelated, 2 families come from same Saudi tribe and are therefore likely to be distantly related with same homozygous METTL23 variant identified in both. No prenatal features or immediate postnatal issues described related to this condtion. One subject reported to have an MRI-B showing mild ventriculomegaly at a later age which may reflect mild white matter volume loss. This subject also had a 618 Kilobases duplication at 7p11.2 (57,261,112-57,878,853) identified on CGH array. PMID: 24626631 – Bernkopf 2014 - describe 2 unrelated families. Provide no antenatal information or report no issues antenatally/at birth apart from one baby being large and cyanosed postnatally PMID: 24501276 – Reiff et al 2014 - report 7 affected members of a large, consanguineous Arab family with ID and mild dysmorphic features. X1 patient had cleft uvula and submucosal cleft palate. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | LRRC32 |
Krithika Murali gene: LRRC32 was added gene: LRRC32 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC32 were set to 30976112 Phenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074 Review for gene: LRRC32 was set to AMBER Added comment: Gene previously reviewed for PanelApp Feb 2021 - no new relevant publications since -- Three individuals from two consanguineous families with cleft palate, proliferative retinopathy, and developmental delay had the same homozygous biallelic variant, c.1630C>T; p.(Arg544Ter), segregated and shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | LRP6 |
Krithika Murali gene: LRP6 was added gene: LRP6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP6 were set to 16126904; 30950205; 26387593; 26963285; 28813618; 29500247; 33164649; 34306029 Phenotypes for gene: LRP6 were set to Tooth agenesis, selective, 7 - MIM#616724; cleft lip/palate Review for gene: LRP6 was set to AMBER Added comment: LoF variants known to be associated with tooth agenesis. In addition, x2 unrelated families from 2 different studies with heterozygous LRP6 variant had tooth agenesis and cleft lip/palate (PMID 29500247; 26963285). Growth failure reported in some individuals but unclear if prenatal in onset (PMID 26963285). Minor finger/ear anomalies reported in x2 patients (PMID 26387593; 30950205)- unlikely to be detected antenatally and one of the reported patients (30950205) had x2 chromosome deletions, one of which involved LRP6 and multiple other genes. --- PMID: 34306029 Huang et al 2021 - Heterozygous LRP6: c.2570G > A (p.R857H), harbored by six members of a Chinese family, including 4 with tooth agenesis. Sparse hair another phenotypic feature. PMID: 33164649 Yu et al 2021 - identified 4 novel LRP6 heterozygous mutations in 4 of 77 oligodontia patients. One patient with a nonsense paternally inherited variant had a hypohidrotic ectodermal dysplasia phenotype - no antenatal features, father had oligodontia. Supportive functional evidence PMID: 29500247 Basha et al 2018 - Nonsense LRP6 variant identified in a family with cleft lip/palate. Proband had bilateral cleft lip and palate with missing upper lateral incisors, mother had bilateral cleft lip. x1 unaffected brother but family members not reassessed for oligodontia after variant identified. PMID: 28813618 Dinckan et al 2018 - heterozygous splice site LRP6 variant identified in 1 family with isolated tooth agenesis. Affected family members also had mild periocular hyperpigmentation and hypoplastic alae nasi - thought to be unrelated to phenotype PMID: 26963285 Ockeloen et al 2016 - frameshift variant identified in patient with tooth agenesis and orofacial clefting - boy born with bilateral cleft lip, L) sided cleft of the alveolus and complete cleft of the hard and soft palate. Also noted to have growth retardation, hypermetropia and small median alveolar manibular cleft. Maternal relatives with variant had severe tooth agenesis but no clefting. Canonical splice site variant identified in a patient with isolated severe tooth agenesis. Targeted resequencing showed statistically significant enrichment of unique LRP6 variants in tooth agenesis patients (7/67 versus 13/706 controls), not orofacial clefting cohort. 4/7 of these patients required growth hormone therapy and 3/7 had clinodactyly in addition to dental anomalies. PMID: 26387593 – Massink et al 2015 - x4 LoF heterozygous LRP6 variants identified in 4 unrelated families with isolated severe tooth agenesis. All affected members of one family showed minor anatomical variation of the ear and underdevelopment of the thumb PMID: 30950205 Ross et al 2019 - Proband with oligodontia and thrombocytopenia, also had mild finger and ear anomalies. Array revealed an interstitial loss of 150 kb in 8p23.1 encompassing MCPH1 and ANGPT2 and an interstitial loss of 290 kb in 12p13.2 encompassing ETV6, BCL2L14 and LRP6. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3151 | IGSF1 | Ain Roesley reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26840047; Phenotypes: Hypothyroidism, central, and testicular enlargement MIM#300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3148 | COL25A1 |
Zornitza Stark gene: COL25A1 was added gene: COL25A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to 35077597; 26437029 Phenotypes for gene: COL25A1 were set to Arthrogryposis multiplex congenita MONDO:0015168 Review for gene: COL25A1 was set to GREEN Added comment: 6 cases from 4 unrelated families with AMC as a feature of the phenotype PMID: 35077597 - 5 patients from 3 unrelated families with biallelic missense and splice site COL25A1 variants presenting with arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder phenotype PMID: 26437029 - Patient: 273182 in DECIPHER with compound het missense variants. Phenotype includes Congenital finger flexion contractures, Contracture of the distal interphalangeal joint of the 2nd finger, Duane anomaly Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | KAT5 |
Krithika Murali gene: KAT5 was added gene: KAT5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT5 were set to 32822602 Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities- MIM#619103 Review for gene: KAT5 was set to GREEN Added comment: PMID: 32822602 Humbert et al 2020 - single study reporting 3 individuals with syndromic ID and de novo heterozygous missense variants in KAT5, supportive functional data Individual 1 – diagnosed as an adult, syndromic ID, brachydactyly, partial agenesis of the corpus callosum Indidual 2 – 13 yo M with ID and multiple malformations – born at 38 weeks with a unilateral CL/P, horshoe kidney, progressive cerebellar atrophy, dysgenesis of the corpus callosum Individual 3 – presented with congenital microcephay, short stature, VSD, dysplastic pulmonary valve with supravalvular and valvular stenosis, submucous cleft, hypospadias, MRI B PMG R) sylvian fissure, cystic dilation of 4th ventricle and inferior cerebellar vermis atrophy Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | INTS1 |
Krithika Murali gene: INTS1 was added gene: INTS1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 30622326; 31428919 Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies - MIM#618571 Review for gene: INTS1 was set to GREEN Added comment: PMID: 28542170 Oegema et al 2017 - 3 unrelated individuals with syndromic ID of Dutch ancestry showed the same homozygous truncating INTS1 mutation - 1/3 Cleft palate/lip, 1/3 renal malformation PMID: 30622326 – Krall et al 2019 - 5 patients from 4 families with biallelic sequence variants in INTS1. The patients manifested absent or severely limited speech, an abnormal gait, hypotonia and cataracts. Other phenotypic features included: o Micropthalmia – 2/5 o Frontal bossing 2/5 o Hypertelorism – 5/5 o Microretrognathia – 4/5 o Renal malformation 2/5 PMID: 31428919 – Zhang et al 2020 - 2 Chinese siblings with ID found to have INTST1 compound het variants, both had cataracts, facial dysmorphism, short stature, severe ID and anomalous genitalia Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | HYAL2 |
Krithika Murali gene: HYAL2 was added gene: HYAL2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 34906488; 28081210; 23172227; 26515055 Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations Review for gene: HYAL2 was set to GREEN Added comment: PMID 28081210 Muggenthaler et al 2017 - 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies PMID 34906488 Fasham et al 2021 - report 10 additional individuals from 6 unrelated families (Amish x2 - same founder variant as in previous study, Romanian, Italian, Northern European ancestry) Combined reported phenotypic features of 17 individuals from both studies most relevant in the prenatal setting include: • Hyperterlorism 13/16 • External ear anomalies – 11/14 • Cleft lip/palate – 10/17 • Micrognathia – 9/14 • Cardiac anomalies 12/17 Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | HOXA2 |
Krithika Murali gene: HOXA2 was added gene: HOXA2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HOXA2 were set to 18394579; 23775976; 27503514; 28109504; 31567444; 32649979 Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD) - MIM#612290 Review for gene: HOXA2 was set to GREEN Added comment: Heterozygous variants associated with non-syndromic microtia and hearing loss reported in over 5 families Homozygous variant associated with severe microtia, hearing loss and partial cleft palate reported in 3 affected individuals in 1 family. Supportive mouse models --- PMID: 18394579 Alasti et al 2008 - first identified 3 affected individuals from one consanguineous Persian family also had partial cleft palate with homozygous HOXA2 variant. Only family with AR inheritance reported so far. PMID: 23775976 Brown et al 2013 – multiple affected individuals from one family with non-syndromic bilateral microtia and hearing loss segregating as an autosomal dominant trait. Exome sequencing identified heterozygous protein truncating HOXA2 nonsense change (c.703C>T, p.Q235*). PMID: 27503514 Piceci et al 2017 – reported one family with isolated bilateral microtia segregating as an autosomal dominant trait. Heterozygous protein truncating nonsense variant identified [c.670G>T, p.(Glu224*)] segregating in all affected individuals PMID: 28109504 Hao et al 2017 - 2 novel variants in the 5’ UTR of HOXA2 identified in a screen of patients with microtia, limited phenotypic information PMID: 31567444 Meddaugh et al 2020 - reported heterozygous variant in 4-year-old Caucasian male with bilateral dysplastic ears and conductive hearing loss. PMID: 32649979 Si et al 2020 – reported two Chinese families with non-syndromic bilateral microtia identifying two separate heterozygous nonsense HOXA2 variants Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | FTO |
Krithika Murali gene: FTO was added gene: FTO was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to 19559399; 26378117 Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism - MIM#612938; multiple congenital malformations Review for gene: FTO was set to AMBER Added comment: Biallelic variants associated with syndromic ID reported in 2 unrelated families. PMID: 26378117 Daoud et al 2016 - homozygous missense variant identified in a female proband. 3rd child to consanguineous Tunisian parents. Proband also carried a paternally inherited balanced translocation. Antenatal USS identified IUGR. Postnatal Echo showed PDA and hypertrabeculation of LV apex. PMID 19559399 Boissel et al 2009 - homozygous missense variant identified in 9 affected individuals from a consanguineous Palestinian Arab family. Phenotypic features identified most pertinent to the prenatal setting include: 3/7 IUGR, 7/7 retrognathia, congenital heart disease 6/8, lissencephaly 3/8, hypertrophic cardiomyopathy 4/8, hydrocephalus 4/8, cleft palate/bifid uvula 3/6. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | ESRP2 |
Krithika Murali gene: ESRP2 was added gene: ESRP2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ESRP2 were set to 29805042 Phenotypes for gene: ESRP2 were set to Cleft lip Review for gene: ESRP2 was set to AMBER Added comment: No new publications since last PanelApp review Feb 2021 -- PMID: 29805042 Cox et al. Identified ESRP2 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr16:g.68266284C>T;p.Arg315) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant (chr16:g.68265234G>A;p.Arg520*) in another family. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | EIF3F |
Krithika Murali gene: EIF3F was added gene: EIF3F was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF3F were set to 33736665 Phenotypes for gene: EIF3F were set to ntellectual developmental disorder, autosomal recessive 67- MIM#618295 Review for gene: EIF3F was set to GREEN Added comment: No new publications since PanelApp review Oct 2021 Hüffmeier et al (2021) reported 21 patients who were homozygous/compound heterozygous for Phe232Val variant in EIF3F. All affected individuals had developmental delay and speech delay. About half had behavioural problems, altered muscular tone, hearing loss, and short stature (3/7 from birth). The study suggests that microcephaly (4/10 from birth), reduced sensitivity to pain, cleft lip/palate (1/21), congenital heart defect (1/21), gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | COL9A3 |
Krithika Murali gene: COL9A3 was added gene: COL9A3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COL9A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL9A3 were set to 33570243; 31090205; 30450842; 25381065; 24273071; 15551337 Phenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy - MIM#600969; Stickler syndrome Review for gene: COL9A3 was set to GREEN Added comment: 6 patients from 4 families reported with biallelic variants associated with a Stickler syndrome like phenotype. All of these cases characterised by the absence of cleft palate, which is noted more commonly in other autosomal dominant forms of Stickler syndrome. Potential antenatally detectable features described with biallelic COL9A3 variants include fetal growth restriction (1/6), midface hypoplasia (6/6), tibial and femoral bowing (1/6) PMID 33570243 Markova et al 2021 - report a patient with novel Class 4 compound heterozygous COL9A3 variants confirmed to be in trans. Antenatal USS identified fetal growth restriction in the third trimester. Examination findings by clinical geneticist aged 2 provided, including dysmorphic facial features noted - slightly flattened nasal bridge, small nose, mild mid-facial hypoplasia, high palate. PMID 31090205 – Nixon et al 2019 - homozygous COL9A3 variant identified in proband, consanguineous family. Antenatal phenotype not provided, mid-facial hypoplasia noted. PMID: 30450842 – Hanson-Kahn et al 2018 - proband homozygous for LoF COL9A3 variants. Phenotypic features included moderate to severe sensorineural hearing loss, high myopia, mid-face hypoplasia and both tibial and femoral bowing at birth. PMID 24273071 Faletra et al 2014 - first reported family with AR COL9A3 associated Stickler syndrome due to homozygous LoF variants. 3 siblings with hearing loss, midface hypoplasia, high myopia, variable severity ID from consanguineous Moroccan family. -- Variants in COL9A3 have previously been associated with autosomal dominant multiple epiphyseal dysplasia, susceptibility to an intervertebral disc disease, and hearing loss. Generally milder phenotype than individuals with biallelic variants. However, PMID 33633367 Nash et al 2021 - report 2 families with heterozygous COL9A3 variants with a more severe Stickler-like phenotype including severe peripheral lattice vitreoretinal abnormalities and mild/moderate sensorineural hearing loss in some cases. No antenatal information provided Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | ANKRD17 |
Krithika Murali gene: ANKRD17 was added gene: ANKRD17 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD17 were set to 33909992 Phenotypes for gene: ANKRD17 were set to Chopra-Amiel-Gordon syndrome - MIM#619504; multiple congenital malformations Review for gene: ANKRD17 was set to GREEN Added comment: 33909992 - Chopra et al 2021 reported 34 individuals from 33 families with a syndromic ID Multiple cases with antenatal anomalies or features detectable antenatally reported - 3/34 with cleft lip and/or palate (including 2 with Pierre Robin sequence) - 1/34 retrognathia - 5/34 renal anomalies including 3 with unilateral renal agenesis and 1 with antenatal diagnosis of horseshoe kidney - 2/34 microcephaly - 4/34 macrocephaly (1 noted on 37/40 antenatal USS to have macrocephaly and enlarged cisterna magna, 1 also had NSD1 variant) - 5/34 IUGR/fetal growth concerns -1/34 with VSD Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3140 | ACBD5 |
Krithika Murali gene: ACBD5 was added gene: ACBD5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 27799409; 23105016; 33427402; 34668366 Phenotypes for gene: ACBD5 were set to Retinal dystrophy with leukodystrophy - MIM#618863 Review for gene: ACBD5 was set to RED Added comment: Biallelic ACBD5 variants cause impairment of very long-chain fatty acid metabolism. Patients have retinal dystrophy and leukodystrophy. Other features include ataxia, spastic paraparesis, developmental delay and facial dysmorphism. One patient with cleft palate reported but this may be an incidental finding and not related to this condition. No other antenatal features reported. -- PMID 27799409 Ferdinandusse et al 2017 - patient born full-term with cleft palate, progressive leukodystrophy, ataxia, retinal dystrophy and facial dysmorphism PMID 23105016 Abu-Safieh et al 2013 - limited phenotypic information, reported 3 siblings with homozygous splice site ACBD5 variants with spastic paraparesis and leukodystrophy. PMID: 33427402 Bartlett et al 2020 - 36 year old F proband born at term after an uncomplicated pregnancy, normal growth parameters. PMID: 34668366 Gorukmez et al 2021 - x2 siblings with homozygous variant – no antenatal features reported Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3137 | QRICH1 | Zornitza Stark Publications for gene: QRICH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3135 | QARS | Zornitza Stark Publications for gene: QARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3132 | PXDN | Zornitza Stark Publications for gene: PXDN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3130 | PSAT1 | Zornitza Stark Publications for gene: PSAT1 were set to 25152457; 31903955 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3126 | PREPL | Zornitza Stark Publications for gene: PREPL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3125 | POP1 | Zornitza Stark Publications for gene: POP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3123 | POP1 |
Zornitza Stark changed review comment from: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.; to: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. At least 4 unrelated families reported. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3123 | POP1 | Zornitza Stark changed review comment from: Primarily a skeletal dysplasia, mild LD described in some but overall I don't think this is the right panel.; to: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3123 | POLE | Zornitza Stark Phenotypes for gene: POLE were changed from severe growth failure of prenatal onset; IUGR; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) to IMAGE-I syndrome 618336 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3122 | POLE | Zornitza Stark Publications for gene: POLE were set to 23230001; 25948378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3120 | PLPBP | Zornitza Stark Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3119 | PLPBP | Zornitza Stark Publications for gene: PLPBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3116 | PLG | Zornitza Stark Publications for gene: PLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3106 | TOPORS |
Krithika Murali gene: TOPORS was added gene: TOPORS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOPORS were set to 34132027 Phenotypes for gene: TOPORS were set to MONDO:0005308; ciliopathy; postaxial polydactyly; multiple lingual hamartomas; dysmorphic features Review for gene: TOPORS was set to AMBER Added comment: Gene recently reviewed, no new publications since -- PMID:34132027 - Two unrelated probands with postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features both found to be homozygous for the same missense variant (p.Pro10Gln). Suggested possible founder allele. Further search did not identify any additional publications. Note mono-allelic variants associated with RP. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3106 | SPINT2 |
Krithika Murali gene: SPINT2 was added gene: SPINT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINT2 were set to 19185281; 20009592; 24142340; 30445423; 33547739; 33374714; 33029133 Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic - MIM#270420; congenital secretory sodium diarrhea 3 - MONDO0010036 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3106 | RPS29 |
Krithika Murali gene: RPS29 was added gene: RPS29 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS29 were set to 24829207 Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13 - MIM#615909 Review for gene: RPS29 was set to AMBER Added comment: 2 unrelated families reported with Diamond Blackfan anaemia. DBA known to be associated with congenital malformations. 1 affected individual reported in this publication to have congenital aortic stenosis and Sprengel deformity. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3106 | RPS28 |
Krithika Murali gene: RPS28 was added gene: RPS28 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS28 were set to 24942156 Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164 Review for gene: RPS28 was set to AMBER Added comment: 2 unrelated families reported in 2014. Antenatally detectable phenotypic features included cleft palate, micrognathia, cardiac, auricular and renal anomalies Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3106 | PYROXD1 | Zornitza Stark Phenotypes for gene: PYROXD1 were changed from Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization to Myopathy, myofibrillar, 8 (MIM#617258) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3105 | PYROXD1 | Zornitza Stark Publications for gene: PYROXD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3103 | RPL15 |
Krithika Murali gene: RPL15 was added gene: RPL15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RPL15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPL15 were set to 20301769; 29599205; 23812780 Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12 - MIM#615550; multiple congenital malformations; hydrops Review for gene: RPL15 was set to GREEN Added comment: Known association with Diamond Blackfan anaemia (~1% of cases) which in turn is known to be associated with congenital malformations (craniofacial, upper limb, heart and genitourinary malformations). 3 of 4 patients with truncating RPL15 variants had severe non-immune hydrops fetalis and required intrauterine transfusions. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3103 | PYGM | Zornitza Stark Publications for gene: PYGM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3101 | PTPN14 | Zornitza Stark Publications for gene: PTPN14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3098 | PRKAG2 | Zornitza Stark Publications for gene: PRKAG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3095 | PPP3CA | Zornitza Stark Publications for gene: PPP3CA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3094 | POLR1A | Zornitza Stark Publications for gene: POLR1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3091 | POLG2 | Zornitza Stark Publications for gene: POLG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3088 | PLCB4 | Zornitza Stark Publications for gene: PLCB4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3085 | WDR62 | Zornitza Stark Publications for gene: WDR62 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3084 | PNPLA6 |
Krithika Murali gene: PNPLA6 was added gene: PNPLA6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 35069422; 33818269; 25299038; 33210227; 33141049; 32758583; 32586184 Phenotypes for gene: PNPLA6 were set to Oliver-McFarlane syndrome - MIM#275400 Review for gene: PNPLA6 was set to AMBER Added comment: Heterogenous group of neurodegenerative conditions associated with biallelic PNPLA6 gene variants with childhood or adult onset symptoms. Oliver-McFarlane syndrome (OMFS) though is a rare congenital disorder characterised by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. Congenital hypogonadism is present in half of patients. Low birth weight, preterm delivery and being small for gestational age has been reported as a feature of OMFS. One case of microcephaly has been reported. Overall, limited prenatal phenotypic information for all reported cases of OMFS but associated growth restriction has the potential to be detected antenatally. -- 33818269 - report two unrelated patients with Oliver McFarlane syndrome with biallelic PNPLA6 variants who were born pre-term and small for gestational age. 32758583 Liu et al 2020 - report one boy with Oliver McFarlane syndrome diagnosed with microcephaly and small for gestational age after delivery at 35 weeks. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3074 | PDSS2 | Zornitza Stark Publications for gene: PDSS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3072 | PDHX | Zornitza Stark Publications for gene: PDHX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3067 | NT5C3A | Zornitza Stark Publications for gene: NT5C3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3065 | NDUFV1 | Zornitza Stark Publications for gene: NDUFV1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3064 | MYBPC1 | Zornitza Stark Publications for gene: MYBPC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3062 | NDUFS8 | Zornitza Stark Publications for gene: NDUFS8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3061 | MUSK | Zornitza Stark Publications for gene: MUSK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3060 | MTOR | Zornitza Stark Publications for gene: MTOR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3056 | NDUFA1 | Zornitza Stark Publications for gene: NDUFA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3054 | MYO5A | Zornitza Stark Publications for gene: MYO5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3052 | LTBP2 | Zornitza Stark Publications for gene: LTBP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3051 | MTO1 | Zornitza Stark Publications for gene: MTO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3049 | LRPPRC | Zornitza Stark Publications for gene: LRPPRC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3047 | MPLKIP | Zornitza Stark Publications for gene: MPLKIP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3046 | MPDU1 | Zornitza Stark Publications for gene: MPDU1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3045 | MOCS1 | Zornitza Stark Publications for gene: MOCS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3043 | MMP21 | Zornitza Stark Publications for gene: MMP21 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3042 | MLYCD | Zornitza Stark Publications for gene: MLYCD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3040 | LMOD1 | Zornitza Stark Publications for gene: LMOD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3035 | ITPR1 | Zornitza Stark Publications for gene: ITPR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3030 | PLCB1 | Zornitza Stark Publications for gene: PLCB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3028 | PLAG1 | Zornitza Stark Publications for gene: PLAG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3024 | PLAA | Zornitza Stark Publications for gene: PLAA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3022 | PLAA |
Zornitza Stark changed review comment from: NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. At least 5 families reported.; to: NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. At least 5 families reported. Mouse model. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3022 | PIK3C2A | Zornitza Stark Publications for gene: PIK3C2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3020 | PIH1D3 | Zornitza Stark Publications for gene: PIH1D3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3017 | PIGY | Zornitza Stark Publications for gene: PIGY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3016 | PIGN | Zornitza Stark Publications for gene: PIGN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3013 | PIGG | Zornitza Stark Publications for gene: PIGG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3012 | PIBF1 | Zornitza Stark Publications for gene: PIBF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3009 | PHF21A | Zornitza Stark Publications for gene: PHF21A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3006 | PGM3 |
Zornitza Stark changed review comment from: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity. More than 10 unrelated families reported. Typically presents post-natally.; to: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity. More than 10 unrelated families reported. Typically presents post-natally. However, more severe presentations with skeletal abnormalities and congenital malformations reported in PMID 28543917 and 24931394. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3005 | PGM3 | Zornitza Stark Publications for gene: PGM3 were set to 28543917; 24931394 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3003 | PGM3 |
Zornitza Stark changed review comment from: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity. More than 10 unrelated families reported.; to: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity. More than 10 unrelated families reported. Typically presents post-natally. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3002 | WDR26 | Seb Lunke Publications for gene: WDR26 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2999 | WDR34 | Seb Lunke Publications for gene: WDR34 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2998 | WDR35 | Seb Lunke Publications for gene: WDR35 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2996 | WDR60 | Seb Lunke Publications for gene: WDR60 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2993 | PDE6D |
Krithika Murali gene: PDE6D was added gene: PDE6D was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6D were set to 30423442; 24166846 Phenotypes for gene: PDE6D were set to Joubert syndrome 22 - MIM#615665 Review for gene: PDE6D was set to GREEN Added comment: Biallelic variants associated with Joubert syndrome identified in 2 families. Antenatal detection possible. 30423442 Megarbane et al 2018 Report homozygous truncating PDE6D variant in a male infant with post-axial polydactyly noted at birth on all extremities. Brain MRI at 6 months of age showed cerebellar vermis agenesis, hypoplastic corpus callosum, cortical atrophy of the temporal lobes and molar tooth sign. PMID 24166846 Thomas et al 2014 report a consanguineous family with three affected and 2 healthy sibs. Features noted in both liveborn children: - 1/2 IUGR - 1/2 facial dysmorphism - 2/2 postaxial polydactyly - 1/2 syndactyly - 1/2 renal hypoplasia - 2/2 microphthalmia - 1/2 supportive MRI-B features - 1/2 coloboma 3rd sibling is a male fetus terminated at 14 weeks gestation following findings of brain anomalies and polydactyly. Supportive animal models Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2993 | NPM1 |
Krithika Murali gene: NPM1 was added gene: NPM1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPM1 were set to 31570891 Phenotypes for gene: NPM1 were set to Dyskeratosis congenita Review for gene: NPM1 was set to AMBER Added comment: Heterozygous variants identified in 2 patients with dyskeratosis congenita (DKC). x1 patient with NPM1 missense mutation presented with severe growth defects at birth, thumb abnormalities and thrombocytopenia. x1 patient with in-frame NPM1 deletion presented with skin pigmentation abnormalities, nail dystrophy, microcephaly, developmental delay, short stature, skeletal abnormalities in the radius and bone marrow failure by age 6. Some of these features may be amenable to antenatal detection. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2992 | PGAP1 | Zornitza Stark Publications for gene: PGAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2989 | PET100 | Zornitza Stark Publications for gene: PET100 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2986 | PDSS1 | Zornitza Stark Publications for gene: PDSS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2984 | PDE10A | Zornitza Stark Phenotypes for gene: PDE10A were changed from Childhood-Onset Chorea with Bilateral Striatal Lesions to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Striatal degeneration, autosomal dominant, MIM#616922 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2983 | PDE10A | Zornitza Stark Publications for gene: PDE10A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2980 | PDE10A | Zornitza Stark edited their review of gene: PDE10A: Added comment: Both disorders typically present post-natally.; Changed rating: RED; Changed phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921, Striatal degeneration, autosomal dominant, MIM#616922; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2977 | PACS1 | Zornitza Stark Publications for gene: PACS1 were set to 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2975 | KIAA0825 |
Krithika Murali gene: KIAA0825 was added gene: KIAA0825 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0825 were set to 33776623; 32147526; 30982135 Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10 - MIM#618498 Review for gene: KIAA0825 was set to GREEN Added comment: 4 families of Pakistani/Sindhi origin reported with post-axial polydactyly Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2974 | P4HB | Zornitza Stark Publications for gene: P4HB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2970 | IQCE |
Krithika Murali gene: IQCE was added gene: IQCE was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQCE were set to 31549751; 28488682 Phenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 - MIM#617642 Review for gene: IQCE was set to GREEN Added comment: Known association with polydactyly, syndactyly and brachydactyly. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2970 | IFT27 |
Krithika Murali gene: IFT27 was added gene: IFT27 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296 Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19-MIM#615996 Review for gene: IFT27 was set to GREEN Added comment: Biallelic variants associated with Bardet-Biedl syndrome. Phenotypic features detectable antenatally include polydactyly, cardiac and brain anomalies also reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2970 | HMGB1 |
Krithika Murali gene: HMGB1 was added gene: HMGB1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMGB1 were set to 34164801 Phenotypes for gene: HMGB1 were set to microcephaly; intellectual disability Review for gene: HMGB1 was set to GREEN Added comment: 34164801 Uguen et al 2021 report 6 unrelated individuals with LoF HMGB1 variants associated with syndromic ID. 4 individuals reported to have microcephaly - majority noted to have microcephaly at birth +/- growth restriction. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2970 | FAM92A |
Krithika Murali gene: FAM92A was added gene: FAM92A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM92A were set to 30395363 Phenotypes for gene: FAM92A were set to Polydactyly, postaxial, type A9 - MIM#618219 Review for gene: FAM92A was set to AMBER Added comment: 30395363 - homozygous nonsense variants in FAM92A segregated with postaxial polydactyly in x1 consanguineous Parkistani family. Supportive mouse model reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2970 | OSGEP | Zornitza Stark Publications for gene: OSGEP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2968 | NUS1 | Zornitza Stark Publications for gene: NUS1 were set to 31656175; 29100083; 610463; 25066056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2966 | NUS1 | Zornitza Stark Publications for gene: NUS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2961 | NUP62 | Zornitza Stark changed review comment from: A neurodegenerative disorder rather than ID.; to: A neurodegenerative disorder with post-natal onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2960 | NTRK2 | Zornitza Stark Publications for gene: NTRK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2956 | NSUN2 | Zornitza Stark Publications for gene: NSUN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2955 | NSUN2 | Zornitza Stark edited their review of gene: NSUN2: Added comment: Low birth weight reported. Microcephaly also reported, age of onset unclear.; Changed rating: AMBER; Changed publications: 22541559, 22541562, 22577224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2954 | NRXN2 | Zornitza Stark Publications for gene: NRXN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2951 | TRRAP |
Krithika Murali gene: TRRAP was added gene: TRRAP was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRRAP were set to 30827496 Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism- #618454; multiple congenital anomalies Review for gene: TRRAP was set to GREEN Added comment: 13 unrelated individuals reported with a complex syndromic neurodevelopmental disorder associated with malformations that can be detected antenatally. This includes, brain, heart, kidney, urogenital anomalies, abdominal wall hernias, cleft lip/palate Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2951 | G6PD |
Krithika Murali gene: G6PD was added gene: G6PD was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: G6PD were set to 1316704; 26279483; 18177777; 17825683; 1127504; 7472841 Phenotypes for gene: G6PD were set to Haemolytic anaemia, G6PD deficient (300908) Review for gene: G6PD was set to AMBER Added comment: Well-known association with G6PD deficiency. Borderline red-amber gene for fetal anomalies. However, as features of anaemia can sometimes be detected in fetus antenatally and therapeutic/maternal trigger avoidance options available, I have favoured amber rating. PMID: 26279483 Keller et al 2015 - report a mother who is a carrier for a G6PD variant (Guadalajara variant) with a family history of a brother and paternal uncle who died as neonates from severe hydrops. She was counselled to avoid substances that could precipitate oxidative stress from 22 weeks gestation onwards. During her first pregnancy, a male fetus was found to have mild cardiomegaly at 31 weeks with elevated MCAPSV - suggestive of anaemia. Intrauterine transfusion instituted. Presence of maternally inherited G6PD variant confirmed in the fetus. There are other case reports of hydrops fetalis presumed secondary to G6PD deficiency but evidence is limited.. 4999390; 1127504 - older studies, no genomic confirmation available. 4999390 Perkins et al 1971 - Mother presumed to be a carrier for G6PD deficiency and all 3 babies presumed to have the same - 1st child neonatal jaundice with abnormal G6PD test result and death at 59 days of life from undetermined cause - 2nd pregnancy - mother given sulfizoxazole for UTI during pregnancy, delivered stillborn infant at 36 weeks with hydrops fetalis and severe anaemia - 3rd child - well, neonatal jaundice and abnormal G6PD test. Mother O neg blood group, all three babies +ve blood group, DAT -ve and RhoGam given each pregnancy. 1127504 - Mentzer and Collier et al 1975 Male infant died at 2 hours of life with evidence of haemolysis and autopsy findings of hydrops. G6PD screening test in baby abnormal. Mother had low-normal G6PD activity, abnormal ascorbate cyanide test, abnormal MTT cytochemical however no abnormal migrating band of G6PD activity was present on electrophoresis. URTI episode during pregnancy, ascorbic acid consumption and fava bean consumption noted. G6PD deficiency presumed in mother and infant but not genomically confirmed. 23719252; 24999569 - Two case reports identified. However, a second diagnosis was present in both and the G6PD deficiency may have contributed to severity rather than being the primary factor. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2938 | STAC3 | Zornitza Stark Publications for gene: STAC3 were set to 30168660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2935 | ST3GAL3 | Zornitza Stark Publications for gene: ST3GAL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2932 | SPECC1L | Zornitza Stark Publications for gene: SPECC1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2928 | SOX6 | Zornitza Stark Publications for gene: SOX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2924 | SOX5 | Zornitza Stark Publications for gene: SOX5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2920 | SOX18 | Zornitza Stark Publications for gene: SOX18 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2915 | SNAP29 | Zornitza Stark Publications for gene: SNAP29 were set to 28388629; 21073448; 15968592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2912 | SNAP25 | Zornitza Stark Publications for gene: SNAP25 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2906 | SLC5A7 | Zornitza Stark Publications for gene: SLC5A7 were set to 27569547; 31299140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2904 | SLC29A3 | Zornitza Stark Publications for gene: SLC29A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2902 | SLC25A4 | Zornitza Stark Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2901 | SLC25A4 | Zornitza Stark Publications for gene: SLC25A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2896 | SLC1A2 | Zornitza Stark Publications for gene: SLC1A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2893 | SLC18A3 | Zornitza Stark Publications for gene: SLC18A3 were set to 31059209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2892 | UROS |
Krithika Murali gene: UROS was added gene: UROS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 34187847; 34828434; 15065102 Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic - MIM#263700; hydrops fetalis; multiple congenital anomalies Review for gene: UROS was set to GREEN Added comment: Biallelic variants associated with congenital erytropoietic porphyria (CEP). PMID 34187847 Khalouaoui A et al 2021 report one infant with CEP secondary to homozygous UROS variants. Prenatal ultrasound at 25 weeks of gestation revealed an increased nuchal translucency and myocardial hypertrophy. PMID: 34828434 Arnaud et al 2021 - report one fetus miscarried in the 2nd trimester with 22 weeks ultrasound showing hyperechogenic small intestine with short femurs. Subsequent pregnancy MTOP after antenatal USS showed hygroma coli, ascites, short femurs, double outlet right ventricle. Genomic sequencing on stored fetal DNA samples confirmed homozygous UROS p.Cys73Arg variants in both fetuses. PMID 15065102 Lazebnik et al 2004 reported the prenatal findings of two siblings with CEP secondary to homozygous pathogenic C73R variants. 1st child - USS at 17.5 weeks gestation showed increased nuchal thickness (9.7mm) with mild ascites, pericardial effusion, and skin oedema which persisted on subsequent scans. 2nd child - 16 week USS showed increased nuchal thickness (8.7mm) with scalp oedema, ascites, pericardial effusion, skin oedema and hepatomegaly. Other cases with antenatal features, particularly non-immune hydrops, secondary to suspected CEP reported but not confirmed molecularly. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2892 | MVK |
Krithika Murali gene: MVK was added gene: MVK was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 27012807; 16722536 Phenotypes for gene: MVK were set to Mevalonic aciduria-#610377; Hyper-IgD syndrome - #260920 Review for gene: MVK was set to GREEN Added comment: Biallelic MVK variants associated with mevalonate kinate deficiencies - an overlapping spectrum of phenotypes includes mevalonic aciduria (MVA) on the severe end and hyper-IgD syndrome (HIDS) generally having a less severe clinical course and later diagnosis. Fetal manifestations of MVA reported include microcephaly and hydrops fetalis. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2892 | LAMB2 |
Krithika Murali gene: LAMB2 was added gene: LAMB2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB2 were set to 16450351 Phenotypes for gene: LAMB2 were set to Pierson syndrome-MIM#609049; Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199 Review for gene: LAMB2 was set to AMBER Added comment: Biallelic variants associated with Pierson syndrome. Phenotypic features include congenital nephrotic syndrome, ocular anomalies including microcoria. Most affected individuals die early from renal disease with survivors tending to have ID/visual loss. Prenatal features reported in 1 consanguineous Turkish family with 4 pregnancies affected by Pierson syndrome. Antenatal ultrasound features noted include: - 2/4 homogenous hyperechogenicity of the kidneys similar to bone tissue - 2/4 enlargement of fetal kidneys - 2/4 bilateral pyelectasis - 1/4 oligohydramnios --> anhydramnios - 1/4 hydrops - 1/4 ancencephaly All 4 fetuses had ultrasound anomalies. Anencephaly seen in the 4th pregnancy noted at 11 weeks resulting in MTOP. Homozygosity for LAMB2 variant confirmed. PM showed that kidneys were appropriate for gestational age. I could not find another case report of anencephaly with Pierson syndrome, this may be an incidental finding. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2889 | MKS1 | Zornitza Stark Publications for gene: MKS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2888 | MKKS | Zornitza Stark Publications for gene: MKKS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2886 | MFRP | Zornitza Stark Publications for gene: MFRP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2885 | IARS | Zornitza Stark Publications for gene: IARS were set to 27426735 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2884 | SIX6 | Zornitza Stark Publications for gene: SIX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2883 | SHANK3 | Zornitza Stark Publications for gene: SHANK3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2879 | SHANK1 | Zornitza Stark Publications for gene: SHANK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2875 | SGSH | Zornitza Stark Publications for gene: SGSH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2873 | SETD2 | Zornitza Stark Marked gene: SETD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2873 | SETD2 | Zornitza Stark Gene: setd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2873 | SETD2 | Zornitza Stark Phenotypes for gene: SETD2 were changed from SETD2-associated Overgrowth Syndrome to Luscan-Lumish syndrome, MIM#616831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2872 | SETD2 | Zornitza Stark Publications for gene: SETD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2871 | SETD2 | Zornitza Stark Mode of inheritance for gene: SETD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2870 | SETD2 | Zornitza Stark Classified gene: SETD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2870 | SETD2 | Zornitza Stark Gene: setd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2869 | SETD1A | Zornitza Stark Marked gene: SETD1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2869 | SETD1A | Zornitza Stark Gene: setd1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2869 | SETD1A | Zornitza Stark Phenotypes for gene: SETD1A were changed from INTELLECTUAL DISABILITY to Epilepsy, early-onset, with or without developmental delay, MIM# 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2868 | SETD1A | Zornitza Stark Publications for gene: SETD1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2867 | SETD1A | Zornitza Stark Mode of inheritance for gene: SETD1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2866 | SETD1A | Zornitza Stark Classified gene: SETD1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2866 | SETD1A | Zornitza Stark Gene: setd1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2865 | SETD1A |
Zornitza Stark changed review comment from: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism. In addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; to: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism. In addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders. Presentation of both disorders is typically post-natal. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2865 | SETD1A | Zornitza Stark edited their review of gene: SETD1A: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2864 | SECISBP2 | Zornitza Stark Publications for gene: SECISBP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2861 | SEC24D | Zornitza Stark Publications for gene: SEC24D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2858 | SCN3A | Zornitza Stark Publications for gene: SCN3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2853 | SCLT1 | Zornitza Stark Publications for gene: SCLT1 were set to 28486600; 30425282; 23348840; 24285566; 28005958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2850 | SASS6 | Zornitza Stark Publications for gene: SASS6 were set to 24951542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2849 | HS2ST1 |
Krithika Murali gene: HS2ST1 was added gene: HS2ST1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to Neurofacioskeletal syndrome with or without renal agenesis-MIM#619194; multiple congenital anomalies; arthrogryposis Review for gene: HS2ST1 was set to GREEN Added comment: PMID 33159882 - Scheenberger et al 2020 Biallelic HS2ST1 variants associated with disease reported in 4 affected individuals from 3 unrelated families, including one affected fetus with arthrogryposis, skeletal anomalies, bilateral renal agenesis. Other congenital anomalies reported include agenesis or hypoplasia of the corpus callosum. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2848 | SACS | Zornitza Stark Publications for gene: SACS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2846 | SACS | Zornitza Stark changed review comment from: ID has only been reported in a minority of individuals; predominantly a motor phenotype.; to: Progressive condition, onset in infancy/childhood. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2846 | FLNC |
Krithika Murali changed review comment from: ClinGen definitive gene-disease validation for myofibrillar myopathy type 5 and dilated cardiomyopathy. Predominantly adult onset phenotype, AD inheritance. 4 unrelated cases with likely de novo FLNC variants presenting with congenital myopathy and arthrogryposis have also been reported which are features amenable to antenatal detection. PMID 29858533 Kiselev et al reported 4 unrelated patients with early onset myopathy and restrictive cardiomyopathy. 3/4 also presented with arthrogryposis. x1 patient required delivery via CS due to breech presentation and at birth was noted to have arthrogryposis and hip dysplasia - de novo FLNC variant confirmed. RCM diagnosed age 2 x1 patient noted to have IUGR in a pregnancy complicated by pre-eclampsia. At birth was noted to have arthrogryposis, hip subluxation and abdominal wall weakness with herniation. RCM diagnosed age 6 months. Variant not present in unaffected mother, paternal DNA unavailable. x1 patient required CS delivery due to insufficient rotation in birth canal. Noted to have arthrogryposis at birth. Variant confirmed to be de novo x1 patient presented with muscle weakness first year of life, RCM age 3. Parents declined genetic testing. --- Other cases of interest PMID 30260051 Schubert et al 2018 - report two restrictive cardiomyopathy families with childhood onset disease with age 1 being the earliest age of diagnosis in a DCDA monozygotic twin who was also diagnosed with a small VSD perinatally. Both twins were also noted to have extra-cardiac manifestations at the time of diagnosis including developmental delay, hypotonia, dysmorphic facial features, and clasped thumbs with onset of kidney dysfunction age 3 post-cardiac transplant. PMID: 32516863 – Kolbel et al 2020 report one neonate with homozygous FLNC variant c.1325C>G (p.Pro442Arg). Absent from gnomad. Presented with weak suck first month of life with subsequent motor development delay, generalised muscular hypotonia, contractures. Variant confirmed in both unaffected parents. Authors postulate this is a novel case of homozygous FLNC variants associated with congenital presentation. This is a single case report, only heterozygous variants reported so far including in congenital presentations, both parents with het variants unaffected. Possibility of an alternative genetic explanation for this patient's presentation not excluded. Sources: Literature; to: ClinGen definitive gene-disease validation for myofibrillar myopathy type 5 and dilated cardiomyopathy. Predominantly adult onset phenotype, AD inheritance. 4 unrelated cases with likely de novo FLNC variants presenting with congenital myopathy and arthrogryposis have also been reported. These features/complications of these features are amenable to antenatal detection. PMID 29858533 Kiselev et al reported 4 unrelated patients with early onset myopathy and restrictive cardiomyopathy. 3/4 also presented with arthrogryposis. x1 patient required delivery via CS due to breech presentation and at birth was noted to have arthrogryposis and hip dysplasia - de novo FLNC variant confirmed. RCM diagnosed age 2 x1 patient noted to have IUGR in a pregnancy complicated by pre-eclampsia. At birth was noted to have arthrogryposis, hip subluxation and abdominal wall weakness with herniation. RCM diagnosed age 6 months. Variant not present in unaffected mother, paternal DNA unavailable. x1 patient required CS delivery due to insufficient rotation in birth canal. Noted to have arthrogryposis at birth. Variant confirmed to be de novo x1 patient presented with muscle weakness first year of life, RCM age 3. Parents declined genetic testing. --- Other cases of interest PMID 30260051 Schubert et al 2018 - report two restrictive cardiomyopathy families with childhood onset disease with age 1 being the earliest age of diagnosis in a DCDA monozygotic twin who was also diagnosed with a small VSD perinatally. Both twins were also noted to have extra-cardiac manifestations at the time of diagnosis including developmental delay, hypotonia, dysmorphic facial features, and clasped thumbs with onset of kidney dysfunction age 3 post-cardiac transplant. PMID: 32516863 – Kolbel et al 2020 report one neonate with homozygous FLNC variant c.1325C>G (p.Pro442Arg). Absent from gnomad. Presented with weak suck first month of life with subsequent motor development delay, generalised muscular hypotonia, contractures. Variant confirmed in both unaffected parents. Authors postulate this is a novel case of homozygous FLNC variants associated with congenital presentation. This is a single case report, only heterozygous variants reported so far including in congenital presentations, both parents with het variants unaffected. Possibility of an alternative genetic explanation for this patient's presentation not excluded. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2846 | FLNC |
Krithika Murali gene: FLNC was added gene: FLNC was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to 29858533; 30260051; 32516863 Phenotypes for gene: FLNC were set to Arthrogryposis; congenital myopathy; Cardiomyopathy, familial restrictive 5 - MIM #617047; Cardiomyopathy, familial hypertrophic, 26 -MIM# 617047; Myopathy, distal, 4 - #614065; Myopathy, myofibrillar, 5 - MIM#609524 Review for gene: FLNC was set to GREEN Added comment: ClinGen definitive gene-disease validation for myofibrillar myopathy type 5 and dilated cardiomyopathy. Predominantly adult onset phenotype, AD inheritance. 4 unrelated cases with likely de novo FLNC variants presenting with congenital myopathy and arthrogryposis have also been reported which are features amenable to antenatal detection. PMID 29858533 Kiselev et al reported 4 unrelated patients with early onset myopathy and restrictive cardiomyopathy. 3/4 also presented with arthrogryposis. x1 patient required delivery via CS due to breech presentation and at birth was noted to have arthrogryposis and hip dysplasia - de novo FLNC variant confirmed. RCM diagnosed age 2 x1 patient noted to have IUGR in a pregnancy complicated by pre-eclampsia. At birth was noted to have arthrogryposis, hip subluxation and abdominal wall weakness with herniation. RCM diagnosed age 6 months. Variant not present in unaffected mother, paternal DNA unavailable. x1 patient required CS delivery due to insufficient rotation in birth canal. Noted to have arthrogryposis at birth. Variant confirmed to be de novo x1 patient presented with muscle weakness first year of life, RCM age 3. Parents declined genetic testing. --- Other cases of interest PMID 30260051 Schubert et al 2018 - report two restrictive cardiomyopathy families with childhood onset disease with age 1 being the earliest age of diagnosis in a DCDA monozygotic twin who was also diagnosed with a small VSD perinatally. Both twins were also noted to have extra-cardiac manifestations at the time of diagnosis including developmental delay, hypotonia, dysmorphic facial features, and clasped thumbs with onset of kidney dysfunction age 3 post-cardiac transplant. PMID: 32516863 – Kolbel et al 2020 report one neonate with homozygous FLNC variant c.1325C>G (p.Pro442Arg). Absent from gnomad. Presented with weak suck first month of life with subsequent motor development delay, generalised muscular hypotonia, contractures. Variant confirmed in both unaffected parents. Authors postulate this is a novel case of homozygous FLNC variants associated with congenital presentation. This is a single case report, only heterozygous variants reported so far including in congenital presentations, both parents with het variants unaffected. Possibility of an alternative genetic explanation for this patient's presentation not excluded. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2837 | TNNI2 | Zornitza Stark Publications for gene: TNNI2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2834 | TNNT1 | Zornitza Stark Publications for gene: TNNT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2833 | ACP5 | Zornitza Stark Publications for gene: ACP5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2832 | ACAN | Zornitza Stark Phenotypes for gene: ACAN were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY to Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2831 | ACAN | Zornitza Stark Publications for gene: ACAN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2829 | NOVA2 | Zornitza Stark Publications for gene: NOVA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2825 | KIF26B |
Zornitza Stark gene: KIF26B was added gene: KIF26B was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF26B were set to 30151950 Phenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Review for gene: KIF26B was set to RED Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2823 | ACAN | Alison Yeung reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24762113, 27870580, 19110214, 30124491, 28331218, 20137779; Phenotypes: Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2822 | SLC45A1 | Zornitza Stark Publications for gene: SLC45A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2819 | SLC35A1 | Zornitza Stark Publications for gene: SLC35A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2818 | SLC35A1 | Zornitza Stark changed review comment from: Three unrelated families reported.; to: Three unrelated families reported, variable severity, including onset. Microcephaly reported, but onset uncertain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2817 | PAX7 | Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: Progressive disorder, onset in infancy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2809 | MEGF8 | Zornitza Stark Publications for gene: MEGF8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2807 | MEF2C | Zornitza Stark Publications for gene: MEF2C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2804 | MED12 | Zornitza Stark Publications for gene: MED12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2802 | MCPH1 | Zornitza Stark Publications for gene: MCPH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2800 | MCOLN1 | Zornitza Stark Publications for gene: MCOLN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2796 | MASP1 | Zornitza Stark Publications for gene: MASP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2792 | MAP2K2 | Zornitza Stark Publications for gene: MAP2K2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2788 | MAP2K1 | Zornitza Stark Publications for gene: MAP2K1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2784 | MAGEL2 | Zornitza Stark Publications for gene: MAGEL2 were set to 26365340; 27195816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2782 | MAB21L2 | Zornitza Stark Publications for gene: MAB21L2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2779 | LZTR1 | Zornitza Stark Publications for gene: LZTR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2777 | LZTFL1 | Zornitza Stark Publications for gene: LZTFL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2773 | LRRC6 | Zornitza Stark Publications for gene: LRRC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2768 | LMX1B | Zornitza Stark Publications for gene: LMX1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2765 | LMOD3 | Zornitza Stark Publications for gene: LMOD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2761 | LMBRD1 | Zornitza Stark changed review comment from: DD/ID reported in many affected individuals.; to: Onset in infancy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2759 | ISPD | Zornitza Stark Publications for gene: ISPD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2756 | ERGIC1 |
Krithika Murali gene: ERGIC1 was added gene: ERGIC1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERGIC1 were set to 28317099; 34037256; 31230720 Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100 Review for gene: ERGIC1 was set to GREEN Added comment: Recent Panelapp review by Z. Stark Oct 2021 - no new publications since --- Pehlivan et al. 2019 (PMID:31230720) identified the third case of arthrogryposis in a child who harboured a previously unreported homozygous variant (c.782G>A; p.Gly261Asp) in this gene. Parents were heterozygous carriers. Functional studies were not performed. Created: 14 Oct 2021, 7:23 a.m. | Last Modified: 14 Oct 2021, 7:23 a.m. Panel Version: 0.9373 Reinstein et al. (2018) used WES in a large consanguineous Israeli Arab kindred consisting of 16 patients affected with the neurogenic type of arthrogryposis multiplex congenita. They identified a homozygous missense (V98E) mutation in ERGIC1 gene, which segregated with the disorder in the kindred, and was not found in the ExAC database or in 212 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed. ERGIC1 encodes a cycling membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi. Marconi et al (2021) used genome sequencing in a consanguineous family with 2 affected siblings presenting congenital arthrogryposis and some facial dysmorphism. They identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents. Sources: Literature Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2756 | ERBB3 |
Krithika Murali gene: ERBB3 was added gene: ERBB3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 31752936; 17701904; 33720042 Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease (HSCR, aganglionic megacolon) MIM#142623 Review for gene: ERBB3 was set to GREEN Added comment: Biallelic variants associated with multi-system disorder, including gut dysmotility/Hirschsprung disease; with or without contractures. -- PMID 33497358: 6 individuals from 4 unrelated families reported with severe gut dysmotility and other features of neurocristinopathy including short-segment HSCR, progressive axonal peripheral neuropathy, dysautonomia, hypopigmentation, deafness. Note variants in this gene have also recently been linked to Hirschsprung's disease. PMID 17701904: Lethal congenital contractual syndrome: Two families reported with contractures, positional approach used in gene discovery (2007). PMID 33720042 - Seven variants (missense and frameshfit) from four independent families with Hirschsprung disease (HSCR) reported. All reported individuals variably associated with conditions such as HSCR, chronic intestinal pseudo-obstruction, peripheral neuropathy, and arthrogryposis. Functional study revealed mutant proteins reduced protein expression or altered phosphorylation of the mutant receptors. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2755 | INVS | Zornitza Stark Publications for gene: INVS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2752 | INPP5E | Zornitza Stark Publications for gene: INPP5E were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2750 | IKBKG | Zornitza Stark Publications for gene: IKBKG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2743 | ASTN1 | Zornitza Stark Publications for gene: ASTN1 were set to 29706646; 11861479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2739 | HYAL1 | Zornitza Stark Publications for gene: HYAL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2734 | HPGD | Zornitza Stark Publications for gene: HPGD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2729 | MED25 |
Krithika Murali gene: MED25 was added gene: MED25 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 25792360; 32816121; 32816121; 32324310 Phenotypes for gene: MED25 were set to multiple congenital anomalies; congenital heart defects; hypospadias, thin corpus callosum, cerebral ventricular dilatation; Basel-Vanagait-Smirin-Yosef syndrome - #616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Review for gene: MED25 was set to GREEN Added comment: Multiple individuals reported - biallelic variants associated with severe syndromic neurodevelopmental disorder diagnosed from infancy. PMID 32324310 - report one patient with antenatal ultrasound demonstrating cleft lip and clenched hands. Additional features associated wtih this condition that may be diagnosed antenatally include cleft palate, cardiac septal defects, hypospadias, polymicrogyria, thin corpus callosum, microcephaly and cerebral ventricular dilatation. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2728 | SHMT2 |
Krithika Murali gene: SHMT2 was added gene: SHMT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733 Phenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities - #619121 Review for gene: SHMT2 was set to GREEN Added comment: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities particularly thin corpus callosum and polymicrogyria (NEDCASB) associated with biallelic SHMT2 variants. Antenatal detection of microcephaly reported. -- Detailed PanelApp review Oct 2020 - no new evidence to add García‑Cazorla et al. (2020 - PMID: 33015733) report 5 individuals (from 4 families) with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants. All affected subjects presented similar phenotype incl. microcephaly at birth (5/5 with OFC < -2 SD though in 2/5 cases N OFC was observed later), DD and ID (1/5 mild-moderate, 1/5 moderate, 3/5 severe), motor dysfunction in the form of spastic (5/5) paraparesis, ataxia/dysmetria (3/4), intention tremor (in 3/?) and/or peripheral neuropathy (2 sibs). They exhibited corpus callosum hypoplasia (5/5) and perisylvian microgyria-like pattern (4/5). Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Common dysmorphic features incl. long palpebral/fissures, eversion of lateral third of lower eylids, arched eyebrows, long eyelashes, thin upper lip, short Vth finger, fetal pads, mild 2-3 toe syndactyly, proximally placed thumbs. Biallelic variants were identified following exome sequencing in all (other investigations not mentioned). Identified variants were in all cases missense SNVs or in-frame del, which together with evidence from population databases and mouse model might suggest a hypomorphic effect of variants and intolerance/embryonic lethality for homozygous LoF ones. SHMT2 encodes the mitohondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF. Mitochondrial defect was suggested by presence of ragged red fibers in myocardial biopsy of one patient. Quadriceps and myocardial biopsies of the same individual were overall suggestive of myopathic changes. While plasma metabolites were within N range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts , decrease in glycine/serine ratios, impared folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction. Shmt2 ko in mice was previously shown to be embryonically lethal attributed to severe mitochondrial respiration defects, although there was no observed brain metabolic defect. The authors performed Shmt2 knockdown in motoneurons in Drosophila, demonstrating neuromuscular junction (# of satellite boutons) and motility defects (climbing distance/velocity). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2728 | MAST1 |
Krithika Murali gene: MAST1 was added gene: MAST1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657 Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations - #61827; corpus callosum anomalies; cortical malformations; cerebellar hypoplasia Review for gene: MAST1 was set to GREEN Added comment: Neurodevelopmental disorder with muscular hypotonia and varying brain anomalies which may be diagnosed antenatally. Reported cases include x1 individual reported to have hydrocephalus antenatally (PMID 32818970). MRI-B at 17 months demonstrated polymicrogyria, hyperplastic corpus callosum, progressive pontine hypoplasia and enlarged ventricles. Another female patient reported with antenatal findings of increased nuchal translucency in a pregnancy complicated by oligohydramnios, IUGR, pre-eclampsia and pre-term delivery at 32 weeks (PMID 32198973). Postnatally diagnosed with cortical malformations without cerebellar hypoplasia. 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene (30449657). In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls. 1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1 (30449657) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2728 | MAPK8IP3 |
Krithika Murali gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK8IP3 were set to 30945334; 30612693 Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities - #618443; cerebral atrophy; corpus callosum anomalies; polymicrogyria Review for gene: MAPK8IP3 was set to GREEN Added comment: 13 unrelated individuals and 5 individuals from 4 families identified with de novo heterozygous MAPK8IP3 variants. Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy and hypoplasia of the corpus callosum consistently reported in affected individuals Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2728 | MAP1B |
Krithika Murali gene: MAP1B was added gene: MAP1B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP1B were set to 31317654; 33772511; 30150678; 30214071 Phenotypes for gene: MAP1B were set to polymicrogyria; PVNH; Periventricular nodular heterotopia 9, MIM# 618918 Review for gene: MAP1B was set to GREEN Added comment: At least 5 families described with phenotypic features that include variable brain malformations potentially detectable antenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2726 | NMNAT2 | Zornitza Stark Publications for gene: NMNAT2 were set to 31132363; 23082226; 31136762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2724 | NKX6-2 | Zornitza Stark Publications for gene: NKX6-2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2722 | ASTN1 |
Krithika Murali gene: ASTN1 was added gene: ASTN1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASTN1 were set to 29706646; 11861479 Phenotypes for gene: ASTN1 were set to Polymicrogyria; hypoplastic corpus callosum Review for gene: ASTN1 was set to AMBER Added comment: No OMIM gene disease association. No updated evidence since previous PanelApp review April 2020. PMID 29706646 - Wiszniewski et al 2018 - genomic analysis of individuals with disorders of cortical development. Identified one individual with compound het ASTN1 variants with diffuse polymicrogyria, spastic tetraplegia, epilepsy and developmental delay. Second consanguineous family with two sisters with homozygous missense variant in ASTN1 had hypoplastic corpus callosum. Animal model demonstrates abnormal neuronal migration in Astn1-/- deficient mice (PMID 11861479). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2721 | NECTIN1 | Zornitza Stark Publications for gene: NECTIN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2717 | NDUFB11 | Zornitza Stark Publications for gene: NDUFB11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2714 | NAGLU | Zornitza Stark Publications for gene: NAGLU were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2712 | PDE3A |
Krithika Murali gene: PDE3A was added gene: PDE3A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE3A were set to 25961942 Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome - #112410 Review for gene: PDE3A was set to GREEN Added comment: Well-established association with hypertension and brachydactyly. Brachydactyly may be detectable antenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2712 | FMN1 |
Krithika Murali gene: FMN1 was added gene: FMN1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMN1 were set to 20610440; 19383632; 15202026 Phenotypes for gene: FMN1 were set to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects Review for gene: FMN1 was set to AMBER Added comment: No OMIM gene-disease association. No additional evidence since last review of this gene in Sep 2021. PMID 20610440 - a 263 Kb homozygous deletion of FMN1 reported in an individual with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Supporting null mouse model with oligosyndactyly. A large duplication including FMN1 and GREM1 reported in another individual with Cenani–Lenz syndrome. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2712 | HSD17B10 | Ain Roesley reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2712 | FAT1 |
Krithika Murali gene: FAT1 was added gene: FAT1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT1 were set to 30862798; 26905694; 34202629; 34013115; 33418956; 32902815 Phenotypes for gene: FAT1 were set to multiple congenital anomalies; nephropathy; ocular anomalies; hand and foot anomalies Review for gene: FAT1 was set to GREEN Added comment: No OMIM gene-disease association, but multiple affected individuals from unrelated families reported with biallelic FAT1 variants and syndromic features consisting of ocular anomalies, hand/foot malformations and nephropathy. Although diagnosis antenatally not yet reported, some phenotypic features are detectable antenatally. PMID: 30862798 Larouchi et al 2019 - homozygous frameshift FAT1 variants identified in 10 affected individuals from 5 unrelated consanguineous families. The patients presented with syndromic features including ocular anomalies (ptosis, microphthalmia, coloboma, amblyopia), nephropathy (FSGS, proteinuria, haematuria), toe syndactyly and facial dysmorphism. Animal models showing that deletion of Fat1 leads to coloboma in mouse and zebrafish. PMID 26905694 Gee et al 2016 – report recessive mutations in FAT1 in four unrelated consanguineous families with a combination of steroid-resistant nephrotic syndrome, tubular ectasia, haematuria and variable neurodevelopmental findings such ID, polymicrogyria and hydrocephalus. X1 child with pulmonary stenosis. PMID: 34202629 Peluso et al 2021 – Homozygous FAT1 frameshift variant NM_005245.4:c.9729del identified in a child of consanguineous parents with bilateral anophthalmia and hand/foot malformations including - right split foot with 4 toes, 5 metacarpals, second toe duplication and preaxial polydactyly on the right hand. Patient also had congenital heart defects including VSD, ASD and bicuspid aortic valve. Proband also had a microarray which detected a maternally inherited 350 kb 15q26.3 duplication including OMIM morbid gene CERS3 (AR condition) and part of the OMIM morbid gene ADAMTS17 (AR condition). Mother healthy, CNV unrelated to patient’s phenotype. PMID: 34013115 Fabretti et al 2021 – report 4 patients with biallelic FAT1 variants from 3 unrelated families with syndactyly, ophthalmologic and renal phenotype consistent with previously reported cases. PMID: 33418956 Haug et al 2021 - Genetic analysis showed that proband with phenotypic features consistent with other reported cases was compound heterozygous for a frameshift FAT1 variant and 1.8Mb 4q35.2 del including FAT1. PMID: 32902815 Rossanti et al 2021 – Biallelic FAT1 variants reported in a child with isolated mild proteinuria and no syndromic features Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2712 | GDI1 | Ain Roesley reviewed gene: GDI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2711 | ANGPT2 |
Zornitza Stark gene: ANGPT2 was added gene: ANGPT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ANGPT2 were set to 34876502; 32908006 Phenotypes for gene: ANGPT2 were set to Hydrops; Lymphatic malformation-10, MIM#619369 Review for gene: ANGPT2 was set to GREEN Added comment: Mono-allelic disease: association with lymphoedema in 5 unrelated individuals PMID 32908006 Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2709 | IGF2 | Zornitza Stark Publications for gene: IGF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2707 | IGF1R | Zornitza Stark Publications for gene: IGF1R were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2705 | IGF1 | Zornitza Stark Publications for gene: IGF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2702 | IFT80 | Zornitza Stark Publications for gene: IFT80 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2700 | IFT43 | Zornitza Stark Publications for gene: IFT43 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2698 | IFT172 | Zornitza Stark Publications for gene: IFT172 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2696 | IFT122 | Zornitza Stark Publications for gene: IFT122 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2694 | IFITM5 | Zornitza Stark Publications for gene: IFITM5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2691 | IER3IP1 | Zornitza Stark Publications for gene: IER3IP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2689 | PAX8 | Zornitza Stark Publications for gene: PAX8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2683 | PAX6 | Zornitza Stark Publications for gene: PAX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2678 | PAPSS2 | Zornitza Stark Publications for gene: PAPSS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2675 | PAK3 | Zornitza Stark Publications for gene: PAK3 were set to 24556213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2673 | PAFAH1B1 | Zornitza Stark Publications for gene: PAFAH1B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2670 | OTX2 | Zornitza Stark Publications for gene: OTX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2665 | NDUFB11 | Ain Roesley reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30423443, 25772934, 28050600); Phenotypes: Mitochondrial complex I deficiency, nuclear type 30 MIM#301021; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2665 | WNT7A |
Zornitza Stark changed review comment from: Although WNT7A-related conditions cause ulnar abnormalities, include in this panel due to phenotypic overlap (single forearm bone may be difficult to distinguish, particularly in non-specialist setting). Sources: Expert list; to: Limb anomalies. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2664 | FOXL2 | Zornitza Stark Publications for gene: FOXL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2660 | FN1 | Zornitza Stark Publications for gene: FN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2657 | FMN2 | Zornitza Stark Publications for gene: FMN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2654 | HAND1 | Zornitza Stark Publications for gene: HAND1 were set to 19586923; 28112363; 18276607; 27942761; 31286141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2648 | FKBP10 | Zornitza Stark Publications for gene: FKBP10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2645 | FGF9 | Zornitza Stark Publications for gene: FGF9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2642 | FAM46A | Zornitza Stark Publications for gene: FAM46A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2638 | GATA5 | Zornitza Stark Publications for gene: GATA5 were set to 27066509; 23289003; 22961344; 23031282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2635 | MYPN | Zornitza Stark Publications for gene: MYPN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2632 | MYO18B | Zornitza Stark Publications for gene: MYO18B were set to 27858739; 25748484; 27879346 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2629 | MECR | Ain Roesley edited their review of gene: MECR: Changed phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MIM#617282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2628 | MYL9 | Zornitza Stark Publications for gene: MYL9 were set to 29453416; 33031641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2626 | MSTO1 | Zornitza Stark Publications for gene: MSTO1 were set to 28544275; 29339779; 31130378; 31604776; 28554942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2622 | MED13L | Zornitza Stark Publications for gene: MED13L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2619 | MECR | Zornitza Stark Phenotypes for gene: MECR were changed from Childhood-Onset Dystonia and Optic Atrophy to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2618 | MECR | Zornitza Stark Publications for gene: MECR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2615 | MECOM | Zornitza Stark Publications for gene: MECOM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2612 | MDH2 | Zornitza Stark Phenotypes for gene: MDH2 were changed from Early-Onset Severe Encephalopathy to Developmental and epileptic encephalopathy 51 MIM#617339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2611 | MDH2 | Zornitza Stark Publications for gene: MDH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2609 | FOXH1 | Zornitza Stark Publications for gene: FOXH1 were set to 19933292; 18538293; 19525021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2606 | MBOAT7 | Zornitza Stark Publications for gene: MBOAT7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2603 | MAT1A | Zornitza Stark Publications for gene: MAT1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2601 | MAP3K7 | Zornitza Stark Publications for gene: MAP3K7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2597 | HAND2 |
Krithika Murali edited their review of gene: HAND2: Added comment: No OMIM gene disease association. Borderline red-amber gene. PMID: 26676105 Lu et al 2016 - 145 unrelated patients with CHD, Han Chinese descent versus 200 unrelated controls had HAND2 gene sequencing. In x1 patient with ToF hetrozygous HAND2 c.140T>C p.L47P variant identified, parents unaffected, variant reported to be de novo but paternity not confirmed. Absent from gnomad, x1 het synonymous variant in this position only. Functional analysis showed reduced transcriptional activity PMID: 32134193 Cohen et al 2020 - 31-month-old male with unicommissural unicuspid aortic valve, moderate aortic stenosis, and mild pulmonic stenosis. CMA identified 546kb deletion on chr 4q34.1 (174364195-174910239[GRCh37/hg19]). Deletion encompasses exons 1 and 2 of SCRG1, HAND2, and HAND2-AS1. Deletion paternally inherited - proband's father had history of ToF. Novel deletion - no similar deletions in Decipher or DGV. Proband also had CHD7 VUS (c.2830C>T, p.Arg944Cys) – but no features of CHARGE syndrome and CHD7 variant present in 7 hets in gnomad PMID: 30217752 Liu et al 2019 - screened 206 unrelated Han Chinese patients with adult-onset idiopathic DCM and 300 unrelated controls. Identified HAND2 variant c.199G>T; p.(Glu67*). Authors report segregation of the variant with other affected individuals in the family including x2 with VSD/PDA PMID: 26865696 Sun et al 2016 - HAND2 sequenced in 192 unrelated Han Chinese patient. Het p.S65I variant identified in a patient with VSD and present in all 7 family members with CHD and absent from 13 unaffected members. Variant present in gnomad – 3 hets (x1 East Asian, x1 South Asian, x1 Latin American) PMID 20819618 - Shen et al 2010 131 unrelated Han Chinese patients with ToF had HAND2 gene sequencing. Het c.32C>G p.Pro11Arg identified in x2 unrelated patients – no seg, not in gnomad but in area of low coverage. c.42C>T – present in x1 patient with ToF + VSD – no segregation data, not in gnomad but in area of low coverage; Changed rating: AMBER; Changed publications: 26865696, 32134193, 26676105, 30217752, 20819618 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2591 | SHROOM3 | Zornitza Stark Publications for gene: SHROOM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2589 | SIN3A | Zornitza Stark Publications for gene: SIN3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2587 | SLC25A19 | Zornitza Stark Publications for gene: SLC25A19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2580 | SZT2 | Zornitza Stark Publications for gene: SZT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2578 | SPTAN1 | Zornitza Stark Publications for gene: SPTAN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2575 | EXOC3L2 | Zornitza Stark Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2573 | EXPH5 | Zornitza Stark Publications for gene: EXPH5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2569 | DCC | Zornitza Stark Publications for gene: DCC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2564 | NXN | Zornitza Stark Publications for gene: NXN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2562 | SOX11 | Zornitza Stark Publications for gene: SOX11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2560 | MEOX1 | Zornitza Stark Publications for gene: MEOX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2558 | OTUD6B | Zornitza Stark Publications for gene: OTUD6B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2556 | SERPINH1 | Zornitza Stark Publications for gene: SERPINH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2553 | POLR3A | Zornitza Stark Publications for gene: POLR3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2550 | PITX1 | Zornitza Stark Publications for gene: PITX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2546 | NAXE | Zornitza Stark Phenotypes for gene: NAXE were changed from Lethal Neurometabolic Disorder of Early Childhood to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy , MIM#617186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2545 | TRMT10C | Zornitza Stark Publications for gene: TRMT10C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2542 | PBX1 | Zornitza Stark Publications for gene: PBX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2538 | SET | Zornitza Stark Marked gene: SET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2538 | SET | Zornitza Stark Gene: set has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2538 | SET | Zornitza Stark Phenotypes for gene: SET were changed from SET syndrome to Mental retardation, autosomal dominant 58, MIM# 618106 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2535 | FZD2 | Zornitza Stark Publications for gene: FZD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2530 | TUBB3 | Zornitza Stark Publications for gene: TUBB3 were set to 32573066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2521 | WNT1 | Seb Lunke Publications for gene: WNT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2519 | WNT5A | Seb Lunke Publications for gene: WNT5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2516 | WNT7A | Seb Lunke Publications for gene: WNT7A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2512 | XRCC4 | Seb Lunke Publications for gene: XRCC4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2510 | XYLT1 | Seb Lunke Publications for gene: XYLT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2508 | ZC4H2 | Seb Lunke Publications for gene: ZC4H2 were set to 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2506 | ZEB2 | Seb Lunke Publications for gene: ZEB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2503 | ZIC1 | Seb Lunke Publications for gene: ZIC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2500 | ZIC3 | Seb Lunke Publications for gene: ZIC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2498 | ZNF462 | Seb Lunke Publications for gene: ZNF462 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2496 | STIL | Zornitza Stark Publications for gene: STIL were set to 29230157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2494 | STRADA | Zornitza Stark Publications for gene: STRADA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2487 | ZSWIM6 | Zornitza Stark Publications for gene: ZSWIM6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2482 | ZMYND11 | Zornitza Stark Publications for gene: ZMYND11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2478 | ZMYND10 | Zornitza Stark Publications for gene: ZMYND10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2476 | YWHAG | Zornitza Stark Phenotypes for gene: YWHAG were changed from Early-Onset Epilepsy to Developmental and epileptic encephalopathy 56, (MIMI#617665) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2475 | YWHAG | Zornitza Stark Publications for gene: YWHAG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2472 | YWHAG |
Zornitza Stark changed review comment from: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia. PMID: 33393734 8x patients all de novo missense. Patient cohort shared with PMID: 31926053 7/8 have mild-mod ID 6/8 have seizures PMID: 33767733 1x de novo missense and 1x nonsense familial with 6 affecteds. All patients from this study have febrile seizures but normal intelligence and motor development. PMID: 33590706 1x de novo. mild ID and generalized tonic–clonic seizures; to: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia. PMID: 33393734 8x patients all de novo missense. Patient cohort shared with PMID: 31926053 7/8 have mild-mod ID 6/8 have seizures PMID: 33767733 1x de novo missense and 1x nonsense familial with 6 affecteds. All patients from this study have febrile seizures but normal intelligence and motor development. PMID: 33590706 1x de novo. mild ID and generalized tonic–clonic seizures Onset in first year of life. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2471 | YAP1 | Zornitza Stark Publications for gene: YAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2467 | XYLT2 | Zornitza Stark Publications for gene: XYLT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2464 | WDR73 | Zornitza Stark Publications for gene: WDR73 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2458 | VRK1 | Zornitza Stark Publications for gene: VRK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2453 | USP9X | Zornitza Stark Publications for gene: USP9X were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2450 | USP27X | Zornitza Stark Publications for gene: USP27X were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2445 | UQCRQ | Zornitza Stark Publications for gene: UQCRQ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2442 | UQCRB | Zornitza Stark Publications for gene: UQCRB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2440 | UBTF | Zornitza Stark Phenotypes for gene: UBTF were changed from Childhood-Onset Neurodegeneration to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2439 | UBTF | Zornitza Stark Publications for gene: UBTF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2435 | UBE2T | Zornitza Stark Publications for gene: UBE2T were set to 26046368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2432 | TXNDC15 | Zornitza Stark Publications for gene: TXNDC15 were set to 27894351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2429 | TUFM | Zornitza Stark Publications for gene: TUFM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2424 | TTI2 | Zornitza Stark Publications for gene: TTI2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2421 | TTC25 | Zornitza Stark Publications for gene: TTC25 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2419 | TSEN34 | Zornitza Stark Publications for gene: TSEN34 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2416 | TSEN2 | Zornitza Stark Publications for gene: TSEN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2413 | TSEN15 | Zornitza Stark Publications for gene: TSEN15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2410 | TRMT10A | Zornitza Stark Publications for gene: TRMT10A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2407 | TRIO | Zornitza Stark Publications for gene: TRIO were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2403 | TRIM32 |
Zornitza Stark changed review comment from: Single family reported in 2006.; to: BBS: Single family reported in 2006. Muscular dystrophy: onset is typically in childhood. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2399 | TRAPPC11 | Zornitza Stark Publications for gene: TRAPPC11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2394 | TRAF3IP1 | Zornitza Stark Publications for gene: TRAF3IP1 were set to 26487268; 18364699; 21945076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2394 | TRAF3IP1 | Zornitza Stark Publications for gene: TRAF3IP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2391 | TOE1 | Zornitza Stark Publications for gene: TOE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2389 | TNNT3 | Zornitza Stark Publications for gene: TNNT3 were set to 25337069; 32779773; 21402185; 17194691; 19142688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2384 | TMTC3 | Zornitza Stark Publications for gene: TMTC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2380 | TMEM38B | Zornitza Stark Publications for gene: TMEM38B were set to 23054245; 23316006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2374 | TKT | Zornitza Stark Publications for gene: TKT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2372 | THOC2 | Zornitza Stark Publications for gene: THOC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2368 | TELO2 | Zornitza Stark Publications for gene: TELO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2366 | HAND1 |
Krithika Murali edited their review of gene: HAND1: Added comment: No OMIM gene disease association PMID: 28112363 Li et al 2017 - HAND1 gene sequenced in 158 unrelated patients with CHDs and 600 controls. A de novo heterozygous truncating variant was identified (c.394A>T p.K132X) in a 5 month old body with double outlet right ventricle and VSD. Absent from gnomad, not present in unaffected parents or in controls. Functional analysis supported loss of HAND1 transcriptional activity. PMID: 29317578 Wang et al 2017 – article in Chinese, abstract in English. A total of 125 patients with congenital VSD and 210 controls. HAND1 truncating variant identified in an individual with VSD( c.355G>T E119X ). Absent from population database, x1 missense variant at same position 28 hets and x1 synonymous variant with 1 het present in gnomad. No segregation data PMID: 29179274 Zhi et al 2017 - A novel heterozygous mutation, a substitution of thymine for guanine at nucleotide 346 (c.346G>T), predicting the conversion of a glutamic acid-encoding codon into a stop codon at codon 116 (p.E116X), was detected in a patient with sporadic DCM out of a cohort of 120 Chinese patients with DCM versus 200 healthy controls. Absent from gnomad. No segregation data. Article in Chinese, abstract in English, unlikely to be congenital onset. PMID: 27942761 Wang et al 2017 - 165 unrelated patients with CHD and 600 unrelated controls. Heterozygous missense HAND1 variant identified in a patient with TOF (c.352C>T p.R118C) . Functional studies supporting significantly reduced transcriptional activity, absent from gnomad, damaging in silicos, no parental testing. PMID: 26581070 Zhou et al 2016 - heterozygous truncating HAND1 variant, c.313A > T p.R105X identified in a DCM family, absent in controls, reduced transcrptional activities, x1 het inframe deletion at the same position in gnomad and x1 synonymous variant. Segregated with family members with DCM and VSD. PMID: 31286141 Firulli et al 2020 – mouse models showing that myocardial deletion of Hand1 resulted in morphological defects including interventricular septal defects, abnormal LV papillary muscles and cardiac conduction system defects PMID: 29016838 Firulli et al 2017 - Hand1A126FS mutation does exhibit embryonic lethal cardiac defects in mouse models; Changed rating: AMBER; Changed publications: 31286141, 29016838, 29317578, 29179274, 28112363, 27942761, 26581070 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2366 | DYNC1I1 |
Krithika Murali gene: DYNC1I1 was added gene: DYNC1I1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1I1 were set to 22914741; 25231166; 32219838 Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM) Review for gene: DYNC1I1 was set to GREEN Added comment: Gene disease association reviewed Sept 2021 - no new publications At least 6 unrelated families with overlapping deletions that included exons 15 and 17 of DYNC1I1. Exons 15 and 17 have previously been shown to act as tissue-specific enhancers of Dlx5/6 in mouse and zebrafish. No SNVs reported in association with disease. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2365 | TECPR2 | Zornitza Stark Publications for gene: TECPR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2364 | TECPR2 |
Zornitza Stark changed review comment from: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent. Included due to mild CC abnormalities.; to: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent. Included due to mild CC abnormalities, though clinical presentation is predominantly post-natal. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2364 | TECPR2 |
Zornitza Stark changed review comment from: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent; to: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent. Included due to mild CC abnormalities. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2362 | TCF20 | Zornitza Stark Publications for gene: TCF20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2359 | TBX22 | Zornitza Stark Publications for gene: TBX22 were set to 22784330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2356 | TBR1 | Zornitza Stark Publications for gene: TBR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2353 | TAF13 | Zornitza Stark Publications for gene: TAF13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2351 | TACO1 | Zornitza Stark Publications for gene: TACO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2349 | MECR | Ain Roesley reviewed gene: MECR: Rating: RED; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected. 7 unrelated families reported.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2348 | EMX2 | Zornitza Stark Publications for gene: EMX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2346 | EML1 | Zornitza Stark Publications for gene: EML1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2342 | EMC1 | Zornitza Stark Publications for gene: EMC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2339 | EIF2S3 | Zornitza Stark Publications for gene: EIF2S3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2335 | EEF1A2 | Zornitza Stark Publications for gene: EEF1A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2331 | EED | Zornitza Stark Publications for gene: EED were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2327 | DRC1 | Zornitza Stark Publications for gene: DRC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2324 | DPM3 | Zornitza Stark Publications for gene: DPM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2322 | DPM3 | Zornitza Stark changed review comment from: Most affected individuals reported to date have not had ID.; to: Most affected individuals reported to date have not had ID. Predominantly limb-girdle weakness with onset in later childhood or adulthood. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2322 | DPM2 | Zornitza Stark Publications for gene: DPM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2318 | DONSON | Zornitza Stark Publications for gene: DONSON were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2315 | DOCK7 | Zornitza Stark Publications for gene: DOCK7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2310 | DNM2 |
Zornitza Stark changed review comment from: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease. Sources: Expert Review; to: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease and generally have onset in childhood or later. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2309 | DNM1L | Zornitza Stark Publications for gene: DNM1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2306 | DYNC2LI1 | Zornitza Stark Publications for gene: DYNC2LI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2303 | DNM1 | Zornitza Stark Publications for gene: DNM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2299 | DNAL1 | Zornitza Stark Publications for gene: DNAL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2295 | DNAI2 | Zornitza Stark Publications for gene: DNAI2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2293 | DNAAF5 | Zornitza Stark Publications for gene: DNAAF5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2291 | DNAAF2 | Zornitza Stark Publications for gene: DNAAF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2288 | DLX5 | Zornitza Stark Publications for gene: DLX5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2284 | DLG4 | Zornitza Stark Publications for gene: DLG4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2281 | DISP1 | Zornitza Stark Publications for gene: DISP1 were set to 27363716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2277 | DIAPH1 | Zornitza Stark Publications for gene: DIAPH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2274 | DHX30 | Zornitza Stark Publications for gene: DHX30 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2271 | DHX30 |
Zornitza Stark changed review comment from: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787). Post-natal onset.; to: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787). Post-natal presentation. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2271 | DHX30 |
Zornitza Stark changed review comment from: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).; to: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787). Post-natal onset. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2270 | DHDDS | Zornitza Stark Publications for gene: DHDDS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2267 | DENND5A | Zornitza Stark Publications for gene: DENND5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2264 | DDX6 | Zornitza Stark Publications for gene: DDX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2261 | DDX59 | Zornitza Stark Publications for gene: DDX59 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2258 | HYLS1 | Zornitza Stark Publications for gene: HYLS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2256 | HUWE1 | Zornitza Stark Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2254 | HSD17B4 | Zornitza Stark Publications for gene: HSD17B4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2253 | HSD17B4 |
Zornitza Stark changed review comment from: DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.; to: DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome. Cortical dysplasia, renal cysts are reported features. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2252 | HRAS | Zornitza Stark Publications for gene: HRAS were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2246 | HIVEP2 | Zornitza Stark Publications for gene: HIVEP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2243 | HDAC8 | Zornitza Stark Publications for gene: HDAC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2241 | HCFC1 | Zornitza Stark Publications for gene: HCFC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2233 | GUCY2C | Zornitza Stark Publications for gene: GUCY2C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2229 | GTF2H5 | Zornitza Stark Publications for gene: GTF2H5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2227 | GRIN2B | Zornitza Stark Publications for gene: GRIN2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2223 | GRIN1 | Zornitza Stark Publications for gene: GRIN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2220 | GPSM2 | Zornitza Stark Publications for gene: GPSM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2219 | GPI | Zornitza Stark Publications for gene: GPI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2207 | GORAB | Zornitza Stark Publications for gene: GORAB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2204 | GNPTG | Zornitza Stark Publications for gene: GNPTG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2201 | GNPTG |
Zornitza Stark changed review comment from: Mucolipidosis type III gamma is characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. More than 20 unrelated families reported, mouse model.; to: Mucolipidosis type III gamma is characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. More than 20 unrelated families reported, mouse model. Progressive metabolic disorder with childhood onset. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2176 | SET | Chirag Patel Classified gene: SET as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2176 | SET | Chirag Patel Gene: set has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2175 | SET | Chirag Patel reviewed gene: SET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2066 | LHX3 | Zornitza Stark Publications for gene: LHX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2064 | LGI4 | Zornitza Stark Publications for gene: LGI4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2061 | LFNG | Zornitza Stark Publications for gene: LFNG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2059 | LBR | Zornitza Stark Publications for gene: LBR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2057 | LARP7 | Zornitza Stark Publications for gene: LARP7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2055 | LARGE1 | Zornitza Stark Publications for gene: LARGE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2053 | LAMA2 | Zornitza Stark Publications for gene: LAMA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2051 | LAMA1 | Zornitza Stark Publications for gene: LAMA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2049 | L1CAM | Zornitza Stark Publications for gene: L1CAM were set to 30712878; 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2046 | KRAS | Zornitza Stark Publications for gene: KRAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2043 | KMT2D | Zornitza Stark Publications for gene: KMT2D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2035 | KLHL41 | Zornitza Stark Publications for gene: KLHL41 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2033 | KLHL40 | Zornitza Stark Publications for gene: KLHL40 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2031 | KIF7 | Zornitza Stark Publications for gene: KIF7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2029 | KIF1BP | Zornitza Stark Publications for gene: KIF1BP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2027 | KIF1A | Zornitza Stark Publications for gene: KIF1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2023 | KIF11 | Zornitza Stark Publications for gene: KIF11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2019 | KIAA0586 | Zornitza Stark Publications for gene: KIAA0586 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1997 | KDM5C | Zornitza Stark Publications for gene: KDM5C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1996 | KDM5C | Zornitza Stark Mode of inheritance for gene: KDM5C was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1996 | KDM5C | Zornitza Stark Mode of inheritance for gene: KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1993 | KANSL1 | Zornitza Stark Publications for gene: KANSL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1987 | MAMLD1 | Zornitza Stark Publications for gene: MAMLD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1985 | ITGA8 | Zornitza Stark Publications for gene: ITGA8 were set to 24439109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1982 | INPP5K | Zornitza Stark Publications for gene: INPP5K were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1980 | LAMP2 | Zornitza Stark Publications for gene: LAMP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1979 | LAMB3 | Zornitza Stark Publications for gene: LAMB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1977 | IGFBP7 | Zornitza Stark Publications for gene: IGFBP7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1974 | LAMA3 | Zornitza Stark Publications for gene: LAMA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1971 | NSD2 |
Zornitza Stark gene: NSD2 was added gene: NSD2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD2 were set to 30345613; 31171569 Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, MIM# 619695 Review for gene: NSD2 was set to GREEN Added comment: 7 unrelated individuals reported with LOF variants. Gene thought to be responsible for many of the features of Wolf-Hirschorn syndrome. Prenatal growth retardation is a feature. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1967 | SLC33A1 | Seb Lunke Publications for gene: SLC33A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1966 | KISS1R | Zornitza Stark Publications for gene: KISS1R were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1964 | KCTD7 | Zornitza Stark Publications for gene: KCTD7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1962 | IDH1 | Zornitza Stark Publications for gene: IDH1 were set to 22057234; 22057236; 22025298; 24049096 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1958 | HPD | Zornitza Stark Publications for gene: HPD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1954 | HNRNPH2 | Zornitza Stark Publications for gene: HNRNPH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1951 | KCNT1 | Zornitza Stark Publications for gene: KCNT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1948 | KCNQ2 | Zornitza Stark Publications for gene: KCNQ2 were set to 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1946 | HMGA2 | Zornitza Stark Publications for gene: HMGA2 were set to 28796236; 29655892; 29453418; 25809938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1942 | KCNJ11 | Zornitza Stark Publications for gene: KCNJ11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1939 | NAA10 | Zornitza Stark Publications for gene: NAA10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1937 | SF3B4 | Seb Lunke Publications for gene: SF3B4 were set to 22541558 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1936 | SF3B4 | Seb Lunke Publications for gene: SF3B4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1933 | LAMP2 | Daniel Flanagan reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: None; Publications: 25228319, 27165304, 16217705; Phenotypes: Danon disease (MIM#300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1933 | LAMA3 |
Daniel Flanagan changed review comment from: Biallelic LAMA3 variants cause junctional epidermolysis bullosa, blistering is present at birth or shortly after. LAMA3 also associated with Laryngoonychocutaneous syndrome, which seems to have ulceration in the first few months of life.; to: Biallelic LAMA3 variants cause epidermolysis bullosa, blistering is present at birth or shortly after. LAMA3 also associated with Laryngoonychocutaneous syndrome, which appears to have ulceration and other features onset in the first few months of life. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1933 | HNRNPH2 | Ain Roesley reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34907471, 33728377, 31670473, 31236915, 30887513; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1932 | IFT140 | Zornitza Stark Publications for gene: IFT140 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1931 | IFT140 | Zornitza Stark edited their review of gene: IFT140: Added comment: Note mono-allelic variants have been associated with renal cysts, but age of onset uncertain.; Changed publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735, 34890546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1930 | PI4KA |
Zornitza Stark gene: PI4KA was added gene: PI4KA was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 34415310 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679 Review for gene: PI4KA was set to GREEN Added comment: 8 families reported with CNS abnormalities. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1928 | GNAS | Zornitza Stark Publications for gene: GNAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1925 | GNAO1 | Zornitza Stark Publications for gene: GNAO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1921 | GLIS3 | Zornitza Stark Publications for gene: GLIS3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1917 | GLE1 | Zornitza Stark Publications for gene: GLE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1915 | GLDN | Zornitza Stark Publications for gene: GLDN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1913 | GJA8 | Zornitza Stark Publications for gene: GJA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1909 | GDF5 | Zornitza Stark Publications for gene: GDF5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1905 | SLC25A24 | Zornitza Stark Publications for gene: SLC25A24 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1902 | SLC25A20 | Zornitza Stark Publications for gene: SLC25A20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1899 | SLC27A4 | Seb Lunke Publications for gene: SLC27A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1895 | TRPV6 | Zornitza Stark Publications for gene: TRPV6 were set to 29861107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1888 | SLC26A3 | Seb Lunke Publications for gene: SLC26A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1886 | TTC37 | Zornitza Stark Publications for gene: TTC37 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1884 | TTC7A | Zornitza Stark Publications for gene: TTC7A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1882 | SLC26A2 | Seb Lunke Publications for gene: SLC26A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1880 | TUBA1A | Zornitza Stark Publications for gene: TUBA1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1876 | TUBB4A | Zornitza Stark Publications for gene: TUBB4A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1872 | TWIST1 | Zornitza Stark Publications for gene: TWIST1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1870 | UROS | Zornitza Stark Publications for gene: UROS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1868 | TRPV6 | Alison Yeung reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32383311, 31930989, 29861107; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188, Early onset chronic pancreatitis susceptibility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1865 | DZIP1L | Zornitza Stark Publications for gene: DZIP1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1863 | REN | Zornitza Stark Publications for gene: REN were set to 31736371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1861 | RELN | Zornitza Stark Publications for gene: RELN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1859 | RAB23 | Zornitza Stark Publications for gene: RAB23 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1857 | KCNJ10 | Zornitza Stark Publications for gene: KCNJ10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1855 | DSG1 | Zornitza Stark Publications for gene: DSG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1853 | DPF2 | Zornitza Stark Publications for gene: DPF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1851 | DNAJC19 | Zornitza Stark Publications for gene: DNAJC19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1848 | JAGN1 | Zornitza Stark Publications for gene: JAGN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1843 | KBTBD13 | Zornitza Stark Publications for gene: KBTBD13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1839 | GDF1 | Zornitza Stark Publications for gene: GDF1 were set to 17924340; PMID: 20413652; 28991257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1838 | GBE1 | Zornitza Stark Publications for gene: GBE1 were set to 21620786 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1835 | GBA2 | Zornitza Stark changed review comment from: Progressive neurodegenerative condition with childhood onset rather than truly ID.; to: Progressive neurodegenerative condition with childhood onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1835 | GBA | Zornitza Stark Publications for gene: GBA were set to 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1832 | GATA6 | Zornitza Stark Publications for gene: GATA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1829 | GATA2 | Zornitza Stark Publications for gene: GATA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1824 | G6PC3 | Zornitza Stark Publications for gene: G6PC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1821 | FYCO1 | Zornitza Stark Publications for gene: FYCO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1814 | FREM1 | Zornitza Stark Publications for gene: FREM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1811 | SGPL1 | Seb Lunke Publications for gene: SGPL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1809 | FOXRED1 | Zornitza Stark Publications for gene: FOXRED1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1808 | DNAJB11 | Zornitza Stark Publications for gene: DNAJB11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1804 | LRIG2 | Zornitza Stark Publications for gene: LRIG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1802 | FOXP3 | Zornitza Stark Publications for gene: FOXP3 were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1796 | FOXE3 | Zornitza Stark Publications for gene: FOXE3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1793 | GZF1 | Zornitza Stark Publications for gene: GZF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1791 | GSC | Zornitza Stark Publications for gene: GSC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1788 | GRM1 | Zornitza Stark Publications for gene: GRM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1785 | SLC25A38 | Zornitza Stark Publications for gene: SLC25A38 were set to 19412178; 31338833 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1784 | LRAT | Daniel Flanagan reviewed gene: LRAT: Rating: RED; Mode of pathogenicity: None; Publications: 11381255, 18055821, 22570351, 17011878, 29973277, 24625443, 22559933, 31448181; Phenotypes: Leber congenital amaurosis 14 MIM#613341, Retinal dystrophy, early-onset severe MIM#613341, Retinitis pigmentosa, juvenile MIM#613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1782 | GREB1L | Zornitza Stark Publications for gene: GREB1L were set to 29261186; 32378186; 31974414; 31424080; 29100091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1778 | GPX4 | Zornitza Stark Publications for gene: GPX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1775 | GPC6 | Zornitza Stark Publications for gene: GPC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1772 | GNA11 | Zornitza Stark Publications for gene: GNA11 were set to 23802536; 23802516; 24823460; 26818911; 27334330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1771 | GNA11 |
Zornitza Stark changed review comment from: Post-natal presentation.; to: Post-natal presentation for calcium disorders. Somatic variants present in cutaneous haemangiomas, which can be of perinatal onset. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1771 | GNA11 | Zornitza Stark Publications for gene: GNA11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1766 | FOXC2 | Zornitza Stark Publications for gene: FOXC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1764 | FOXC1 | Zornitza Stark Publications for gene: FOXC1 were set to 32720677 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1761 | FOLR1 | Zornitza Stark Publications for gene: FOLR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1759 | FOLR1 | Zornitza Stark changed review comment from: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.; to: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Not pertinent to fetal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1758 | SLC25A38 | Seb Lunke Publications for gene: SLC25A38 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1755 | SLC17A5 | Seb Lunke Publications for gene: SLC17A5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1737 | DHTKD1 | Zornitza Stark Publications for gene: DHTKD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1736 | SIX5 | Zornitza Stark Publications for gene: SIX5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1725 | SKI | Seb Lunke Publications for gene: SKI were set to 15884042; 23023332 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1722 | SKI | Seb Lunke Publications for gene: SKI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1718 | COX15 | Zornitza Stark Publications for gene: COX15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1715 | COX10 | Zornitza Stark Publications for gene: COX10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1702 | CLTC | Zornitza Stark Publications for gene: CLTC were set to 33743358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1691 | CHRNA4 | Zornitza Stark Publications for gene: CHRNA4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1689 | CHRNA4 | Zornitza Stark changed review comment from: ID only reported in one family with this condition.; to: Post-natal onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1688 | CHD2 |
Zornitza Stark changed review comment from: Post-natal onset.; to: Post-natal onset for DDE. Association with ARVC rated LIMITED by ClinGen. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1685 | CCNO | Zornitza Stark Publications for gene: CCNO were set to 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1683 | CCDC65 | Zornitza Stark Publications for gene: CCDC65 were set to 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1681 | CCDC115 | Zornitza Stark Publications for gene: CCDC115 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1679 | CC2D1A | Zornitza Stark Publications for gene: CC2D1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1675 | CAD | Zornitza Stark Publications for gene: CAD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1674 | CAD |
Zornitza Stark changed review comment from: Four unrelated families (two with same variant and Roma background, likely founder). Sources: Expert list; to: Four unrelated families (two with same variant and Roma background, likely founder). Onset in infancy. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1671 | SETBP1 |
Zornitza Stark commented on gene: SETBP1: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4. LoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554. This disorder typically presents post-natally. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1671 | SETBP1 | Zornitza Stark Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150 to Schinzel-Giedion midface retraction syndrome, MIM# 269150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1670 | SETBP1 | Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1669 | SETBP1 | Zornitza Stark reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1668 | SCO2 | Zornitza Stark Publications for gene: SCO2 were set to 15210538; 18924171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1664 | SH3PXD2B | Seb Lunke Publications for gene: SH3PXD2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1663 | SETBP1 | Seb Lunke Marked gene: SETBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1663 | SETBP1 | Seb Lunke Gene: setbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1663 | SETBP1 | Seb Lunke Publications for gene: SETBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1662 | SETBP1 | Seb Lunke Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME to DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1659 | SCO2 | Seb Lunke Publications for gene: SCO2 were set to 15210538; 18924171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1657 | SCN4A | Seb Lunke Publications for gene: SCN4A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1655 | BRWD3 | Zornitza Stark Mode of inheritance for gene: BRWD3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1654 | BRWD3 | Zornitza Stark Publications for gene: BRWD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1645 | AUTS2 | Zornitza Stark Publications for gene: AUTS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1639 | ATP1A3 | Zornitza Stark Phenotypes for gene: ATP1A3 were changed from RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, MIM# 619606; Polymicrogyria | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1638 | ATP1A3 | Zornitza Stark Publications for gene: ATP1A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1629 | ASL | Zornitza Stark changed review comment from: Intellectual disability is a feature of this metabolic condition.; to: Onset is typically post-natal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1628 | TWIST2 | Zornitza Stark Publications for gene: TWIST2 were set to 26119818 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1626 | APTX | Zornitza Stark Phenotypes for gene: APTX were changed from ATAXIA WITH OCULOMOTOR APRAXIA 1 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1625 | APTX | Zornitza Stark edited their review of gene: APTX: Changed phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1625 | APTX | Zornitza Stark changed review comment from: Progressive neurological condition, including cognitive deterioration in some but not truly intellectual disability.; to: Progressive neurological condition, post-natal onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1624 | APOPT1 | Zornitza Stark Publications for gene: APOPT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1622 | AP3B1 | Zornitza Stark Publications for gene: AP3B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1620 | ALS2 | Zornitza Stark Phenotypes for gene: ALS2 were changed from ALS2-RELATED DISORDERS to Spastic paralysis, infantile onset ascending, MIM#607225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1619 | ALS2 | Zornitza Stark changed review comment from: Progressive neurological conditions, but cognition is normal.; to: Progressive neurological condition, onset is post-natal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1617 | ALDH5A1 | Zornitza Stark Publications for gene: ALDH5A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1615 | TWIST2 | Alison Yeung reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26119818, 20691403; Phenotypes: Ablepharon-macrostomia syndrome, MIM# 200110, Barber-Say syndrome, MIM# 209885, Focal facial dermal dysplasia 3, Setleis type, MIM# 227260; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1614 | TXNL4A | Zornitza Stark Publications for gene: TXNL4A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1612 | VLDLR | Zornitza Stark Publications for gene: VLDLR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1609 | FLVCR2 | Zornitza Stark Publications for gene: FLVCR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1607 | FLT4 | Zornitza Stark Publications for gene: FLT4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1604 | FLNB | Zornitza Stark changed review comment from: Gene associated with a number of skeletal dysplasias, ID not typically a feature.; to: Gene associated with a number of skeletal dysplasias, which are relevant to the pre-natal setting. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1603 | FLNA | Zornitza Stark Publications for gene: FLNA were set to 30712878; 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1601 | FKTN | Zornitza Stark Publications for gene: FKTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1599 | FKRP | Zornitza Stark Publications for gene: FKRP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1597 | FH | Zornitza Stark Publications for gene: FH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1588 | FGF3 | Zornitza Stark Publications for gene: FGF3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1586 | FGF10 | Zornitza Stark Publications for gene: FGF10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1583 | FGD1 | Zornitza Stark Publications for gene: FGD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1581 | FBXL4 | Zornitza Stark Publications for gene: FBXL4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1578 | FBN1 | Zornitza Stark Publications for gene: FBN1 were set to 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1575 | FAR1 | Zornitza Stark Publications for gene: FAR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1572 | FANCI | Zornitza Stark Publications for gene: FANCI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1570 | FANCG | Zornitza Stark Publications for gene: FANCG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1568 | FANCF | Zornitza Stark Publications for gene: FANCF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1566 | FANCE | Zornitza Stark Publications for gene: FANCE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1564 | FANCD2 | Zornitza Stark Publications for gene: FANCD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1562 | FANCC | Zornitza Stark Publications for gene: FANCC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1560 | FANCB | Zornitza Stark Publications for gene: FANCB were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1558 | FANCA | Zornitza Stark Publications for gene: FANCA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1555 | NKX2-6 | Zornitza Stark Publications for gene: NKX2-6 were set to 24421281; 15649947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1553 | WNT10B | Zornitza Stark Publications for gene: WNT10B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1551 | WRAP53 | Zornitza Stark Publications for gene: WRAP53 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1550 | YY1 | Zornitza Stark Publications for gene: YY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1548 | GM2A | Zornitza Stark Publications for gene: GM2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1547 | GFRA1 | Zornitza Stark Publications for gene: GFRA1 were set to 33020172 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1545 | GATA3 | Zornitza Stark Publications for gene: GATA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1542 | GLI1 | Zornitza Stark Publications for gene: GLI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1535 | GABRB2 | Zornitza Stark Publications for gene: GABRB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1525 | FAM58A | Zornitza Stark Publications for gene: FAM58A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1518 | FAM20C | Zornitza Stark Publications for gene: FAM20C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1513 | FAM20A | Zornitza Stark Publications for gene: FAM20A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1510 | LINS1 | Zornitza Stark Publications for gene: LINS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1507 | FAM126A | Zornitza Stark Publications for gene: FAM126A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1503 | KRT74 | Zornitza Stark Publications for gene: KRT74 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1499 | FAH | Zornitza Stark Publications for gene: FAH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1488 | CITED2 | Zornitza Stark Publications for gene: CITED2 were set to 11694877; 16287139 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1484 | OSTM1 | Zornitza Stark Publications for gene: OSTM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1482 | OPHN1 | Zornitza Stark Publications for gene: OPHN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1480 | OCLN | Zornitza Stark Publications for gene: OCLN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1478 | OBSL1 | Zornitza Stark Publications for gene: OBSL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1476 | NUBPL | Zornitza Stark Publications for gene: NUBPL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1474 | NR0B1 | Zornitza Stark Publications for gene: NR0B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1472 | NR5A1 | Zornitza Stark Publications for gene: NR5A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | ZNF699 |
Krithika Murali gene: ZNF699 was added gene: ZNF699 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF699 were set to 33875846 Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome - #619488 Review for gene: ZNF699 was set to GREEN Added comment: DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | ZMYM2 |
Krithika Murali gene: ZMYM2 was added gene: ZMYM2 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMYM2 were set to 32891193 Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities - MIM#619522 Review for gene: ZMYM2 was set to GREEN Added comment: Approximately half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | UBR7 |
Krithika Murali gene: UBR7 was added gene: UBR7 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR7 were set to 33340455 Phenotypes for gene: UBR7 were set to Li-Campeau syndrome - MIM#619189 Review for gene: UBR7 was set to GREEN Added comment: Biallalic variants associated with Li-Campeau syndrome - identified in 7 affected individuals from 6 unrelated families. Phenotypic features include cardiac defects (5/7 - VSD, ASD, PDA, PFO) Other phenotypic features include: short stature (ht <3rd centile), developmental delay, urogenital anomalies (cryptorchidism, small penis); seizures; hypotonia; hypothyroidism; ptosis; dysmorphic features Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | TLL1 |
Krithika Murali gene: TLL1 was added gene: TLL1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TLL1 were set to 18830233; 30538173; 27418595; 31570783 Phenotypes for gene: TLL1 were set to Atrial septal defect 6 - MIM#613087; congenital heart disease Review for gene: TLL1 was set to GREEN Added comment: Biallelic variants embryonically lethal in mouse model from cardiac failure with associated cardiac defects. Heterozygous missense variants detected in patients from an ASD cohort with supportive follow-up functional studies Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | TBX2 |
Krithika Murali gene: TBX2 was added gene: TBX2 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX2 were set to 29726930 Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Congenital heart disease; skeletal abnormalities; thymus aplasia Review for gene: TBX2 was set to GREEN Added comment: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted. Other associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism). Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | FAM58A | Belinda Chong reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28225384; Phenotypes: STAR syndrome MIM#300707; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | STK4 |
Krithika Murali gene: STK4 was added gene: STK4 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854 Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations - MIM#614868 Review for gene: STK4 was set to GREEN Added comment: Biallelic variants identified in 12 affected individuals from 5 unrelated families with two mouse model studies. Immunodeficiencyphenotype but cardiac malformations that are potentially detectable antenatally also a typical feature. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | SPRED2 |
Krithika Murali gene: SPRED2 was added gene: SPRED2 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534 Phenotypes for gene: SPRED2 were set to cardiac defects; skeletal anomalies Review for gene: SPRED2 was set to GREEN Added comment: Homozygous variants identified in four subjects from three families with a clinical phenotype that included developmental delay, ID, cardiac defects, short stature, skeletal anomalies and dysmorphic features. Cardiac defects and skeletal anomalies potentially ascertainable antenatally. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | SPEN |
Krithika Murali gene: SPEN was added gene: SPEN was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPEN were set to 33596411 Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome - MIM#619312 Review for gene: SPEN was set to GREEN Added comment: Radio et al. (2021) reported heterozygous SPEN variants in 34 individuals from 33 unrelated families with had global developmental delay, ID, behavioural issues and dysmorphic features. Other features included hypotonia, gait imbalance, pyramidal signs and seizures. Findings potentially ascertainable antenatally: - Brain imaging abnormalities include polymicrogyria, heterotopia, cerebellar atrophy, periventricular white matter defects, agenesis of the corpus callosum, and tethered cord. - Congenital heart defects also present in a significant proportion. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | SMAD6 |
Krithika Murali gene: SMAD6 was added gene: SMAD6 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD6 were set to 22275001; 31138930; 27606499; 32499606 Phenotypes for gene: SMAD6 were set to Aortic valve disease 2 - MIM#614823; {Craniosynostosis 7, susceptibility to} - MIM#617439; {Radioulnar synostosis, nonsyndromic} - #179300 Review for gene: SMAD6 was set to GREEN Added comment: Heterozygous SMAD6 variants have been reported with: congenital cardiovascular malformations including valvular disease radioulnar synostosis craniosynostosis (penetrance is 57%. A common polymorphism near BMP2 (rs1884302) was initially proposed to influence penetrance, but follow-up study did not corroborate this. In vitro luciferase assays suggest loss of SMAD6 inhibitory function) Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | ROBO4 |
Krithika Murali gene: ROBO4 was added gene: ROBO4 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ROBO4 were set to 30455415 Phenotypes for gene: ROBO4 were set to Aortic valve disease 3- MIM#618496 Review for gene: ROBO4 was set to GREEN Added comment: Heterozygous variants identified in individuals from 2 unrelated families with bicuspid aortic valve and aortic dilatation. Supportive functional data. Incomplete penetrance also a feature. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | PRKACB |
Krithika Murali gene: PRKACB was added gene: PRKACB was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2 - MIM#619143 Review for gene: PRKACB was set to GREEN Added comment: Heterozygous variants reported in 4 unrelated probands with Cardioacrofacial dysplasia-2 (CAFD2) - characterized by congenital cardiac defects (atrium or atrioventricular septal defect mainly); limb anomalies (including short limbs, brachydactyly, and postaxial polydactyly); and dysmorphic facial features. Developmental delay of variable severity has also been observed Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | PRKACA |
Krithika Murali gene: PRKACA was added gene: PRKACA was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKACA were set to 33058759 Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1-MIM#619142 Review for gene: PRKACA was set to GREEN Added comment: Heterozygous variants were identified in affected individuals from 3 unrelated families and associated with cardioacrofacial dysplasia-1 (CAFD1). Phenotype includes congenital cardiac defects (mainly atrium or atrioventricular septal defect), limb anomalies (short limbs, brachydactyly, postaxial polydactyly) and dysmorphic facial features. Fetal phenotype also reported. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | PRDM6 |
Krithika Murali gene: PRDM6 was added gene: PRDM6 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM6 were set to 27181681 Phenotypes for gene: PRDM6 were set to Patent ductus arteriosus 3 - MIM#617039 Review for gene: PRDM6 was set to GREEN Added comment: In 3 unrelated families segregating autosomal dominant nonsyndromic patent ductus arteriosus - usually diagnosed in the neonate Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | NKX2-6 |
Krithika Murali gene: NKX2-6 was added gene: NKX2-6 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-6 were set to 24421281; 15649947 Review for gene: NKX2-6 was set to GREEN Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations and athymia Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | MYBPC3 |
Krithika Murali gene: MYBPC3 was added gene: MYBPC3 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC3 were set to 16679492; 17937428; 19858127 Phenotypes for gene: MYBPC3 were set to Neonatal hypertrophic cardiomyopathy; Cardiomyopathy, hypertrophic, 4 - MIM#115197 Review for gene: MYBPC3 was set to GREEN Added comment: 16679492 - two unrelated neonates with severe hypertrophic cardiomyopathy caused by compound heterozygous truncating mutations in the MYBPC3 gene (no antenatal findings reported) 17937428 - 20 Old Order Amish children with severe neonatal hypertrophic cardiomyopathy caused by a novel homozygous splice site mutation in the MYBPC3 gene, diagnosed in the first 3 weeks of life, surviving individuals required cardiac transplant before age 1 19858127 - infant with fatal cardiomyopathy and skeletal myopathy due to a homozygous mutation, p.R943X Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | MMP15 |
Krithika Murali gene: MMP15 was added gene: MMP15 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP15 were set to 33875846 Phenotypes for gene: MMP15 were set to Congenital heart disease Review for gene: MMP15 was set to AMBER Added comment: Gene reviewed Dec 2021 - 3 individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | MIB1 |
Krithika Murali gene: MIB1 was added gene: MIB1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIB1 were set to 33057194 Phenotypes for gene: MIB1 were set to Congenital heart disease Review for gene: MIB1 was set to AMBER Added comment: Last reviewed March and Dec 2021 - no additional evidence Li 2018 (PMID: 30322850): - in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD). - HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense. - Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | MESP1 |
Krithika Murali gene: MESP1 was added gene: MESP1 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: MESP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MESP1 were set to 28677747; 28050627; 27185833; 26694203 Phenotypes for gene: MESP1 were set to Congenital heart disease Review for gene: MESP1 was set to AMBER Added comment: Gene last reviewed April 2021 - Rare/novel variants reported in at least 7 unrelated individuals with congenital heart disease, in-silicos conflicting, familial segregation only available for some (one de novo, three inherited, others unresolved). Functional data implicates gene in cardiac development. No additional published evidence. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | HSPA9 |
Krithika Murali gene: HSPA9 was added gene: HSPA9 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: HSPA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to 26598328; 32869452; 26491070 Phenotypes for gene: HSPA9 were set to Even-plus syndrome - MIM#616854; Anemia, sideroblastic, 4- #182170 Review for gene: HSPA9 was set to GREEN Added comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia. 2/5 with developmental delay and abnormalities of the corpus callosum 4/5 with congenital heart disease Biallelic variants also associated with congenital sideroblastic anaemia. Some patients with a a heterozygous LoF variant have developed congenital sideroblastic anaemia if a particular SNP is presence in trans correlating with reduced mRNA expression (pseudodominant pattern of inheritance) Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | HAND2 |
Krithika Murali gene: HAND2 was added gene: HAND2 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: HAND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HAND2 were set to 26865696; 32134193; 26676105 Phenotypes for gene: HAND2 were set to Congenital heart defects Review for gene: HAND2 was set to GREEN Added comment: Heterozygous LoF variants associated with congenital heart defects reported in at least 3 unrelated families. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | HAND1 |
Krithika Murali gene: HAND1 was added gene: HAND1 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: HAND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HAND1 were set to 19586923; 28112363; 18276607; 27942761; 31286141 Phenotypes for gene: HAND1 were set to Congenital heart defects Review for gene: HAND1 was set to GREEN Added comment: Testing of hypoplastic human hearts (18276607) and those with septatation defects (19586923) demonstrated impairment in HAND1 function Germline LoF variants associated with congenital heart defects Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | GATA5 |
Krithika Murali gene: GATA5 was added gene: GATA5 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: GATA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GATA5 were set to 27066509; 23289003; 22961344; 23031282 Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5 - #617912 Review for gene: GATA5 was set to GREEN Added comment: Heterozygous variants asociated with multiple types of congenital heart defects (septal defects, ToF). Autosomal recessive inheritance also reported in a patient with double outflow right ventricle in a consanguineous Lebanese family Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | FOXH1 |
Krithika Murali gene: FOXH1 was added gene: FOXH1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXH1 were set to 19933292; 18538293; 19525021 Phenotypes for gene: FOXH1 were set to Congenital heart disease; holoprosencephaly Review for gene: FOXH1 was set to GREEN Added comment: Associated with congenital heart defects (including septal defects, tetralogy of fallot and transposition of the great arteries) as well as holoprosencephaly with supportive functional studies. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | FBRSL1 |
Krithika Murali gene: FBRSL1 was added gene: FBRSL1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBRSL1 were set to 32424618; 34805182 Phenotypes for gene: FBRSL1 were set to Congenital malformations; congenital heart defect Review for gene: FBRSL1 was set to GREEN Added comment: Associated with novel malformation and intellectual disability syndrome. Three unrelated children with de novo PTCs that escape NMD, with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations - 2/3 had heart defects (ASD, VSD), cleft palate and hearing impairement. Supported by Xenopus oocyte functional studies Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1468 | AKR1D1 | Zornitza Stark Publications for gene: AKR1D1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1466 | AK2 | Zornitza Stark Publications for gene: AK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1464 | CITED2 |
Krithika Murali gene: CITED2 was added gene: CITED2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CITED2 were set to 11694877; 16287139 Phenotypes for gene: CITED2 were set to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431; Congenital heart disease Review for gene: CITED2 was set to GREEN Added comment: Variants associated with congenital heart defects. Supportive functional evidence and animal models Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1464 | BMPR2 |
Krithika Murali gene: BMPR2 was added gene: BMPR2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR2 were set to 31382961 Phenotypes for gene: BMPR2 were set to Persistent pulmonary hypertension of the neonate; Pulmonary hypertension, familial primary, 1, with or without HHT - MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated- MIM#178600; Pulmonary venoocclusive disease 1-#265450 Penetrance for gene: BMPR2 were set to Incomplete Review for gene: BMPR2 was set to AMBER Added comment: BMPR2 gene variants known to be associated with sporadic/familial pulmonary hypertension and pulmonary venoocclusive disease. Fetal phenotype not reported but known to be associated with persistent pulmonary hypertension of the neonate - critical condition diagnosed in the early postnatal period. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1463 | AIPL1 | Zornitza Stark Publications for gene: AIPL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1460 | AGXT | Zornitza Stark Publications for gene: AGXT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1456 | AGPAT2 | Zornitza Stark Publications for gene: AGPAT2 were set to 22902344 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1455 | AGA | Zornitza Stark Publications for gene: AGA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1452 | AFF2 | Zornitza Stark Publications for gene: AFF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1450 | ACVRL1 | Zornitza Stark Publications for gene: ACVRL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1440 | DCDC2 | Zornitza Stark Publications for gene: DCDC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1436 | CYP26B1 | Zornitza Stark Publications for gene: CYP26B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1432 | CUX2 | Zornitza Stark Publications for gene: CUX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1429 | CUX2 | Zornitza Stark edited their review of gene: CUX2: Added comment: Onset in infancy but congenital abnormalities are not a feature.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1428 | CTU2 | Zornitza Stark Publications for gene: CTU2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1425 | CTNND1 | Zornitza Stark Publications for gene: CTNND1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1421 | CTDP1 | Zornitza Stark Publications for gene: CTDP1 were set to 20301787; 14517542; 24690360; 29174527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1417 | CRIPT | Zornitza Stark Publications for gene: CRIPT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1415 | CRELD1 | Zornitza Stark Publications for gene: CRELD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1413 | CREB3L1 | Zornitza Stark Publications for gene: CREB3L1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1410 | CRADD | Zornitza Stark Publications for gene: CRADD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1407 | HHAT |
Zornitza Stark gene: HHAT was added gene: HHAT was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HHAT were set to 24784881; 30912300; 33749989 Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092 Review for gene: HHAT was set to GREEN Added comment: Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, micromelia, and sex reversal. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1405 | CPAMD8 | Zornitza Stark Publications for gene: CPAMD8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1402 | COLQ | Zornitza Stark Publications for gene: COLQ were set to 9689136; 11865139 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1400 | COLQ | Zornitza Stark changed review comment from: Well established gene-disease association, more than 10 families reported. However, cannot find reports of presentation with multiple pterygia specifically.; to: Well established gene-disease association, more than 10 families reported. However, contractures not reported, and variable age of onset/progression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1399 | HOXB1 | Zornitza Stark Publications for gene: HOXB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1397 | COLEC10 | Zornitza Stark Publications for gene: COLEC10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1394 | COL4A3BP | Zornitza Stark Publications for gene: COL4A3BP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1390 | COL25A1 | Zornitza Stark Publications for gene: COL25A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1388 | COL13A1 | Zornitza Stark Publications for gene: COL13A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1385 | ZBTB18 | Zornitza Stark Publications for gene: ZBTB18 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1382 | ZBTB20 | Zornitza Stark Publications for gene: ZBTB20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1377 | ZIC2 | Zornitza Stark Publications for gene: ZIC2 were set to 20531442 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1374 | ZIC2 | Zornitza Stark Publications for gene: ZIC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1371 | COL12A1 | Zornitza Stark Publications for gene: COL12A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1368 | COG5 | Zornitza Stark Publications for gene: COG5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1361 | ALDH1A2 |
Krithika Murali gene: ALDH1A2 was added gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183; 19886994; 10192400 Phenotypes for gene: ALDH1A2 were set to Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; thymus aplasia Review for gene: ALDH1A2 was set to GREEN Added comment: Biallellic variants in two unrelated, non-consanguineous families associated with multiple anomalies - including congenital heart disease, eventration of the diaphragm/diaphragmatic hernia, pulmonary hypoplasia dysmorphic features, thymus aplasia - a number of which were detected antenatally. Functional assays suggest the variants in the 2 families are hypomorphic. Knockout mouse model is embryonic lethal due to in utero defects in early heart morphogenesis. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1361 | ADAMTS19 |
Krithika Murali gene: ADAMTS19 was added gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS19 were set to 32323311; 31844321 Phenotypes for gene: ADAMTS19 were set to Heart valve disease (HVD) Review for gene: ADAMTS19 was set to GREEN Added comment: PMID 32323311 reports 3 additional consanguineous families (2 affected sibs in each) with anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. All 3 families had homozygous LoF variants in ADAMTS19, which segregated with disease. No functional studies. Previously reported 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1361 | TTC12 |
Krithika Murali gene: TTC12 was added gene: TTC12 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC12 were set to 31978331 Phenotypes for gene: TTC12 were set to Ciliary dyskinesia, primary, 45 - MIM#618801 Review for gene: TTC12 was set to RED Added comment: Four unrelated families reported, LoF variants, respiratory phenotype. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1361 | TP73 |
Krithika Murali gene: TP73 was added gene: TP73 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 31130284; 34077761 Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly - MIM# 619466 Review for gene: TP73 was set to GREEN Added comment: 7 unrelated families reported. In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls. Clinical features included recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also had neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1361 | SPEF2 |
Krithika Murali gene: SPEF2 was added gene: SPEF2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643 Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype Review for gene: SPEF2 was set to RED Added comment: Biallelic variants associated with sperm morphological abnormalities. In some individuals recurrent sinopulmonary infections and bronchiectasis noted consistent with PCD-like phenotype. Mouse model showed infertility phenotype, hydrocephalus, sinusitis. No fetal phenotype reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1358 | CNKSR2 | Zornitza Stark Publications for gene: CNKSR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1357 | CNKSR2 | Zornitza Stark Mode of inheritance for gene: CNKSR2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1355 | CNKSR2 | Zornitza Stark reviewed gene: CNKSR2: Rating: RED; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1349 | CLPP | Zornitza Stark Publications for gene: CLPP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1348 | CLP1 | Zornitza Stark Publications for gene: CLP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1345 | CLMP | Zornitza Stark Publications for gene: CLMP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1343 | CIT | Zornitza Stark Publications for gene: CIT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1339 | EZH2 | Zornitza Stark Publications for gene: EZH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1336 | EXT2 | Zornitza Stark Publications for gene: EXT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1333 | EXT1 | Zornitza Stark Publications for gene: EXT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1330 | EVC2 | Zornitza Stark Publications for gene: EVC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1328 | EVC | Zornitza Stark Publications for gene: EVC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1326 | ETFDH | Zornitza Stark changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly is a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1325 | ETFB | Zornitza Stark changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly is a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1324 | ETFA | Zornitza Stark changed review comment from: Variable phenotype but ID can be a feature particularly with early-onset disease.; to: Variable phenotype but macrocephaly a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1323 | ESCO2 | Zornitza Stark Publications for gene: ESCO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1321 | ERF | Zornitza Stark Publications for gene: ERF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1318 | ERCC6 | Zornitza Stark Publications for gene: ERCC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1316 | ERCC5 | Zornitza Stark Publications for gene: ERCC5 were set to 24700531; 32557569; 32052936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1314 | ERCC4 | Zornitza Stark Publications for gene: ERCC4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1312 | ERCC1 | Zornitza Stark Publications for gene: ERCC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1310 | EPG5 | Zornitza Stark Publications for gene: EPG5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1308 | EOGT | Zornitza Stark Publications for gene: EOGT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1307 | ADSL | Zornitza Stark Publications for gene: ADSL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1304 | ELN | Zornitza Stark Publications for gene: ELN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1302 | EIF4A3 | Zornitza Stark Publications for gene: EIF4A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1299 | EIF2B3 | Zornitza Stark changed review comment from: Progressive neurodegenerative disorder rather than ID.; to: Progressive neurodegenerative disorder, variable age of onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1298 | EYA1 | Zornitza Stark Publications for gene: EYA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1295 | ERCC8 | Zornitza Stark Publications for gene: ERCC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1293 | EXOSC3 | Zornitza Stark Publications for gene: EXOSC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1291 | FAT4 | Zornitza Stark Publications for gene: FAT4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1289 | ERCC3 | Zornitza Stark Publications for gene: ERCC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1287 | FGF8 | Zornitza Stark Publications for gene: FGF8 were set to 20463092; 18596921; 24280688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1284 | FKBP14 | Zornitza Stark Publications for gene: FKBP14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1282 | FOXE1 | Zornitza Stark Publications for gene: FOXE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1280 | FOXF1 | Zornitza Stark Publications for gene: FOXF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1278 | EXOSC3 | Belinda Chong changed review comment from: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.; to: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival. Multiple families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1278 | FOXG1 | Zornitza Stark Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1275 | FREM2 | Zornitza Stark Publications for gene: FREM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1272 | NPR2 | Zornitza Stark Publications for gene: NPR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1267 | GALE | Zornitza Stark Publications for gene: GALE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1265 | GALK1 | Zornitza Stark Publications for gene: GALK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1263 | GALNS | Zornitza Stark Publications for gene: GALNS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1261 | GATA4 | Zornitza Stark Publications for gene: GATA4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1258 | NPHS1 | Zornitza Stark Publications for gene: NPHS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1256 | NPC1 | Zornitza Stark Publications for gene: NPC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1254 | NOTCH2 | Zornitza Stark Publications for gene: NOTCH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1251 | NOTCH1 | Zornitza Stark Publications for gene: NOTCH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1248 | NOG | Zornitza Stark Publications for gene: NOG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1244 | NKX3-2 | Zornitza Stark Publications for gene: NKX3-2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1242 | GCDH | Zornitza Stark Publications for gene: GCDH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1239 | EIF2B2 | Zornitza Stark Publications for gene: EIF2B2 were set to 30266093; 28597716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1237 | EHMT1 | Zornitza Stark Publications for gene: EHMT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1234 | EFTUD2 | Zornitza Stark Publications for gene: EFTUD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1231 | EFNB1 | Zornitza Stark Publications for gene: EFNB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1229 | CHRNB2 | Zornitza Stark Publications for gene: CHRNB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1225 | CHRNB1 | Zornitza Stark Publications for gene: CHRNB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1222 | CHRNA3 | Zornitza Stark Publications for gene: CHRNA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1220 | CHRNA3 |
Zornitza Stark changed review comment from: Five individuals from three unrelated families.; to: Five individuals from three unrelated families. Onset is in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1219 | ZMPSTE24 | Zornitza Stark Publications for gene: ZMPSTE24 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1217 | CHD8 | Zornitza Stark changed review comment from: Congenital anomalies are not a prominent feature of this neurodevelopmental disorder.; to: Congenital anomalies are not a prominent feature of this neurodevelopmental disorder. Macrocephaly reported of prenatal onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1217 | CHMP1A | Zornitza Stark Publications for gene: CHMP1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1214 | CHD8 | Zornitza Stark Publications for gene: CHD8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1210 | CHD3 | Zornitza Stark Publications for gene: CHD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1208 | CFL2 | Zornitza Stark Publications for gene: CFL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1205 | CERS3 | Zornitza Stark Publications for gene: CERS3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1202 | CEP63 | Zornitza Stark Publications for gene: CEP63 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1201 | CEP55 | Zornitza Stark Publications for gene: CEP55 were set to 28295209; 28264986; 30622327 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1198 | CEP135 | Zornitza Stark Publications for gene: CEP135 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1195 | CENPF | Zornitza Stark Publications for gene: CENPF were set to 25564561; PMID: 26820108 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1192 | CELSR1 | Zornitza Stark Publications for gene: CELSR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1189 | CDK5RAP2 | Zornitza Stark Publications for gene: CDK5RAP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1186 | CD96 | Zornitza Stark Publications for gene: CD96 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1183 | CD96 |
Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype. However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available.; to: The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. However, note one reported case ascribes causality based on translocation breakpoint, leaving only one other molecularly confirmed case with a missense variant. It is concerning no further cases have been reported, including in ClinVar, and no functional evidence is available. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1182 | CD151 | Zornitza Stark Publications for gene: CD151 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1180 | CCDC88C | Zornitza Stark Publications for gene: CCDC88C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1178 | CCDC8 | Zornitza Stark Publications for gene: CCDC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1175 | CCDC78 | Zornitza Stark Publications for gene: CCDC78 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1172 | CCDC78 | Zornitza Stark changed review comment from: Single family reported in the literature only. Mild intellectual disability was part of the phenotype.; to: Single family reported in the literature only. Onset in early childhood. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1171 | CCDC22 | Zornitza Stark Publications for gene: CCDC22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1169 | CCDC151 | Zornitza Stark Publications for gene: CCDC151 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1164 | CARS2 | Zornitza Stark Publications for gene: CARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1162 | CARS2 |
Zornitza Stark changed review comment from: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype. Sources: Expert list; to: Three unrelated individuals described with this mitochondrial disorder, primarily neurological involvement, post-natal onset. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1160 | CANT1 | Zornitza Stark changed review comment from: Severe skeletal dysplasia, intellectual disability not a core feature of the phenotype (described in some); to: Severe skeletal dysplasia, prenatal onset of features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1159 | CAMTA1 | Zornitza Stark Publications for gene: CAMTA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1155 | CAMK2B | Zornitza Stark Publications for gene: CAMK2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1153 | CAMK2A | Zornitza Stark Publications for gene: CAMK2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1150 | CACNA1G | Zornitza Stark Publications for gene: CACNA1G were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1146 | CACNA1D | Zornitza Stark Publications for gene: CACNA1D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1138 | CA5A | Zornitza Stark Publications for gene: CA5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1135 | C2CD3 | Zornitza Stark Publications for gene: C2CD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1133 | C21orf59 | Zornitza Stark Publications for gene: C21orf59 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1131 | C1QBP | Zornitza Stark Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1130 | C1QBP | Zornitza Stark Publications for gene: C1QBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1125 | BPTF | Zornitza Stark Publications for gene: BPTF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1123 | BPTF |
Zornitza Stark changed review comment from: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet.; to: Over 30 unrelated individuals reported, mostly de novo, some inherited variants. Clinical features include intellectual disability, seizures, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet. The onset of microcephaly is post-natal, most of the other physical features are relatively mild, unclear if would be identifiable antenatally. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1122 | BOLA3 | Zornitza Stark Publications for gene: BOLA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1120 | BNC2 | Zornitza Stark Publications for gene: BNC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1116 | BLOC1S6 | Zornitza Stark Publications for gene: BLOC1S6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1113 | BCL9L | Zornitza Stark Publications for gene: BCL9L were set to 23035047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1111 | BANF1 | Zornitza Stark Publications for gene: BANF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1107 | WLS |
Zornitza Stark gene: WLS was added gene: WLS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WLS were set to 34587386 Phenotypes for gene: WLS were set to Zaki syndrome, MIM#619648 Review for gene: WLS was set to GREEN Added comment: - Homozygous mutations in 10 affected persons from 5 unrelated families. - Patients had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. - The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1106 | B9D1 | Zornitza Stark Publications for gene: B9D1 were set to 32622957; 24886560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1104 | B4GAT1 | Zornitza Stark Publications for gene: B4GAT1 were set to 23877401; 23359570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1101 | B3GALNT2 | Zornitza Stark Publications for gene: B3GALNT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1096 | ECEL1 | Zornitza Stark Publications for gene: ECEL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1093 | EBF3 | Zornitza Stark Publications for gene: EBF3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1090 | DYRK1A | Zornitza Stark Publications for gene: DYRK1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1087 | DYNC2H1 | Zornitza Stark Publications for gene: DYNC2H1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1085 | DYNC1H1 | Zornitza Stark Publications for gene: DYNC1H1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1082 | DYM | Zornitza Stark Publications for gene: DYM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1080 | DPM1 | Zornitza Stark Publications for gene: DPM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1078 | DPAGT1 | Zornitza Stark Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1077 | DPAGT1 | Zornitza Stark Publications for gene: DPAGT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1075 | DOLK | Zornitza Stark Publications for gene: DOLK were set to 28816422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1071 | DOK7 | Zornitza Stark Publications for gene: DOK7 were set to 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1070 | DOK7 |
Zornitza Stark edited their review of gene: DOK7: Added comment: Association with congenital myasthenia: Over 30 unrelated families reported with bi-allelic variants. Note recent report of mild adult-onset disease and heterozygous variant PMID 32360404. Association with FADS: Two families reported with this phenotype, severe end of the spectrum for DOK7-related disorders.; Changed rating: GREEN; Changed publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392; Changed phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1070 | DOCK6 | Zornitza Stark Publications for gene: DOCK6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1067 | DNMT3A | Zornitza Stark Publications for gene: DNMT3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1064 | DNAI1 | Zornitza Stark Publications for gene: DNAI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1061 | DNAH5 | Zornitza Stark Publications for gene: DNAH5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1059 | ERCC2 | Zornitza Stark Publications for gene: ERCC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1056 | GFAP | Zornitza Stark Publications for gene: GFAP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1052 | NFIX | Zornitza Stark Publications for gene: NFIX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1050 | NEU1 | Zornitza Stark Publications for gene: NEU1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1048 | GFM1 | Zornitza Stark Publications for gene: GFM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1046 | NECTIN4 | Zornitza Stark Publications for gene: NECTIN4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1043 | WNT4 | Zornitza Stark Publications for gene: WNT4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1041 | WWOX | Zornitza Stark Publications for gene: WWOX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1038 | ZNF750 | Zornitza Stark Publications for gene: ZNF750 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1031 | GJC2 | Zornitza Stark Publications for gene: GJC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1025 | EPHB4 | Seb Lunke Publications for gene: EPHB4 were set to 27400125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1023 | GLA | Zornitza Stark Publications for gene: GLA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1018 | NBAS | Seb Lunke Publications for gene: NBAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1010 | GLB1 | Zornitza Stark Publications for gene: GLB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1008 | GLDC | Zornitza Stark Publications for gene: GLDC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1004 | GLI2 | Seb Lunke Publications for gene: GLI2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1002 | EP300 | Zornitza Stark Publications for gene: EP300 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1000 | NANS | Zornitza Stark Phenotypes for gene: NANS were changed from infantile-onset severe developmental delay and skeletal dysplasia to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.999 | NANS | Zornitza Stark Publications for gene: NANS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.997 | NALCN | Seb Lunke Publications for gene: NALCN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.993 | GNAI3 | Zornitza Stark Publications for gene: GNAI3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.991 | GLUL | Zornitza Stark Publications for gene: GLUL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.989 | NAGA | Seb Lunke Publications for gene: NAGA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.983 | GNPAT | Zornitza Stark Publications for gene: GNPAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.982 | SCNN1G |
Krithika Murali gene: SCNN1G was added gene: SCNN1G was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNN1G were set to 8640238; 11231969; 31522814; 7633160 Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I - MIM#264350 Review for gene: SCNN1G was set to AMBER Added comment: PMID 8640238 - same 3′ splice site mutation in SCNN1G identified in 3 unrelated families from the Indian subcontinent presenting with severe generalised PHA ?founder mutation PMID 11231969 - compound het in Japanese child diagnosed as neonate PMID 31522814 - homozygous variant identified in neonate presenting with nephropathy PMID 7633160 (1995) - PHA reported as likely cause of severe polyhydramnios in 5 patients from 3 unrelated families - not genotyped. SCNN1G related PHA rare diagnosis, possible to present as severe polyhydramnios. Early diagnosis beneficial as PHA can be a life-threatening condition in the neonatal period with therapeutic options available. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.981 | MYH9 | Zornitza Stark Publications for gene: MYH9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.978 | BCAS3 |
Zornitza Stark gene: BCAS3 was added gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to 34022130 Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, MIM# 619641 Review for gene: BCAS3 was set to GREEN Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein. All patients had hyperreflexia, spasticity. Microcephaly and CC abnormalities may be detectable antenatally. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.977 | ATR | Zornitza Stark Publications for gene: ATR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.974 | ATP6V1B2 | Zornitza Stark Publications for gene: ATP6V1B2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.970 | ASXL3 | Zornitza Stark Publications for gene: ASXL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.967 | ASXL2 | Zornitza Stark Publications for gene: ASXL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.965 | NEK10 |
Krithika Murali gene: NEK10 was added gene: NEK10 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK10 were set to 31959991 Phenotypes for gene: NEK10 were set to Ciliary dyskinesia, primary, 44 - MIM#618781 Review for gene: NEK10 was set to RED Added comment: Nine individuals from 5 unrelated families with primary ciliary dyskinesia, some functional data. No features that can be ascertained antenatally reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.965 | ASPH | Zornitza Stark Publications for gene: ASPH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.963 | ARID2 | Zornitza Stark Publications for gene: ARID2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.960 | ARHGAP29 | Zornitza Stark Publications for gene: ARHGAP29 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | MCIDAS |
Krithika Murali gene: MCIDAS was added gene: MCIDAS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCIDAS were set to 32802948; 25048963; 30237576 Phenotypes for gene: MCIDAS were set to Hydrocephalus; Arachnoid cyst; Choroid plexus hyperplasia; Ciliary dyskinesia, primary, 42 - #618695 Review for gene: MCIDAS was set to GREEN Added comment: PMID 30237576 - Patient 17-1170 (Supplementary Table) Homozygous splice site variant in a child with progressive bronchiectasis, short stature and non-obstructive hydrocephalus on imaging. PMID 25048963 - 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia. None of the variants identified were observed in gnomAD at unexpected frequency for a recessive condition. PMID 32802948 - Retrospective cohort study for 7 consecutive patients diagnosed with MCIDAS by the Leicester UK national PCD diagnostic laboratory. MRI-B showed that all 7 patients demonstrated choroid plexus hyperplasia, arachnoid cysts, hydrocephalus. x1 diagnosed antenatally with communicating hydrocephalus with a sibling who had increasing head circumference noted in infancy and baseline ultrasound scan showing CPH with bitempoeral arachnoid cysts. Another monozygotic twin from an unrelated family had seizures which self-resolved with D7 of life cranial U/S reported as within normal limits although mild dilatation of posterior horns of both lateral ventricles were noted. Both MZ twins had hydrocephalus diagnosed on MRI-B age 16 pre-lung transplant. Potential for younger age of ascertainment with earlier use of MRI-B. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | GAS2L2 |
Krithika Murali gene: GAS2L2 was added gene: GAS2L2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS2L2 were set to 30665704 Phenotypes for gene: GAS2L2 were set to ?Ciliary dyskinesia, primary, 41 - OMIM#618449 Review for gene: GAS2L2 was set to RED Added comment: Two families with PCD and functional evidence. No mention of heterotaxy or phenotype that can be ascertained antenatally. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | GLA | Ain Roesley reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: 20301469; Phenotypes: Fabry disease MIM#301500, Fabry disease, cardiac variant MIM#301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | DNAJB13 |
Krithika Murali gene: DNAJB13 was added gene: DNAJB13 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB13 were set to 31342671; 27486783 Phenotypes for gene: DNAJB13 were set to Primary ciliary dyskinesia Review for gene: DNAJB13 was set to RED Added comment: Two families reported with PCD phenotype, but no mention of heterotaxy. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | DNAH8 |
Krithika Murali gene: DNAH8 was added gene: DNAH8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DNAH8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH8 were set to 31178125; 24307375; 32619401; 32681648 Phenotypes for gene: DNAH8 were set to Spermatogenic failure 46 - OMIM# 619095; primary ciliary dyskinesia Review for gene: DNAH8 was set to RED Added comment: Associated with male infertility, primary ciliary dyskinesia - no fetal phenotype reported Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | DNAH6 |
Krithika Murali gene: DNAH6 was added gene: DNAH6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH6 were set to 26918822 Phenotypes for gene: DNAH6 were set to heterotaxy; azoospermia Review for gene: DNAH6 was set to AMBER Added comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width. Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1. Summary: 1 convincing patient with animal model Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | DNAH1 |
Krithika Murali gene: DNAH1 was added gene: DNAH1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH1 were set to 25927852; 31507630 Phenotypes for gene: DNAH1 were set to Situs inversus; primary ciliary dyskinesia; infertility Review for gene: DNAH1 was set to AMBER Added comment: PMID - 25927852 x2 siblings from consanguineous Saudi family with homozygous missense variants (p.Lys1154Gln). More detailed clinical information available for proband diagnosed with Kartagener syndrome - chronic respiratory infections, situs inversus and infertility. Sister also reported to have been diagnosed with Kartagener syndrome at a similar age but no additional clinical information provided. PMID: 31765523 - 1 patient with PCD with a single het missense. PMID: 24360805 - 7 patients (4 different variants) with homozygous variants and infertility due to defective sperm. Microscopy of sperm revealed dynein disorganization PMID: 31507630 - 1 chet patient with kartagener syndrome, a subtype of PCD. Variants were classified as VUS initially - now c.442C>T (p.Arg148Cys) remains VUS, c.3103C > T p.R1035C re-classified as likely benign. Additional patient was het for a single nonsense, authors acknowledge missed 2nd hit and that this alone was not causative. Currently listed as red gene in Heterotaxy panel Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | CFAP74 |
Krithika Murali gene: CFAP74 was added gene: CFAP74 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP74 were set to 32555313 Phenotypes for gene: CFAP74 were set to infertility; primary ciliary dyskinesia Review for gene: CFAP74 was set to RED Added comment: Compound het missense variants identified in 2 unrelated patients presenting with male infertility, chronic bronchiectasis and frequent sinusitis. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | CFAP57 |
Krithika Murali gene: CFAP57 was added gene: CFAP57 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CFAP57 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CFAP57 were set to 21574244; 32764743 Phenotypes for gene: CFAP57 were set to Van der Woude syndrome; primary ciliary dyskinesia like Review for gene: CFAP57 was set to RED Added comment: Homozygous nonsense variants identified in a 38-year-old male with PCD phenotype (history of neonatal respiratory distress, otitis media, sinusitis and bronchiectasis) x1 Het VUS reported in an individual with van der Woude syndrome - reviewed ClinVar - remains classified as VUS Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | CFAP43 |
Krithika Murali gene: CFAP43 was added gene: CFAP43 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CFAP43 were set to 31884020; 28552195; 31004071; 29449551 Phenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592 Review for gene: CFAP43 was set to RED Added comment: Associated with infertility. Only adult-onset hydrocephalus reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | BRWD1 |
Krithika Murali gene: BRWD1 was added gene: BRWD1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRWD1 were set to 33389130 Phenotypes for gene: BRWD1 were set to Situs inversus; primary ciliary dyskinesia like Review for gene: BRWD1 was set to GREEN Added comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-likely" symptoms of re-occurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls). Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.957 | ARFGEF2 | Zornitza Stark Publications for gene: ARFGEF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.954 | AP4S1 | Zornitza Stark Publications for gene: AP4S1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.951 | AP4M1 | Zornitza Stark Publications for gene: AP4M1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.949 | AP4B1 | Zornitza Stark Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 3152572521620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.948 | AP4B1 | Zornitza Stark Publications for gene: AP4B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.945 | AP3B2 | Zornitza Stark Publications for gene: AP3B2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.944 | AP3B2 | Zornitza Stark changed review comment from: At least 8 unrelated families reported.; to: At least 8 unrelated families reported. Onset of symptoms is post-natal. Microcephaly reported in some, though onset is unclear. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.942 | ANKS6 | Zornitza Stark Publications for gene: ANKS6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.938 | ANKRD26 | Zornitza Stark Publications for gene: ANKRD26 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.934 | GNB1 | Zornitza Stark Publications for gene: GNB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.931 | GDF11 |
Zornitza Stark gene: GDF11 was added gene: GDF11 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GDF11 were set to 31215115; 34113007 Phenotypes for gene: GDF11 were set to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122 Review for gene: GDF11 was set to GREEN Added comment: Ravenscroft et al. (2021) report additional 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.925 | CDK8 |
Zornitza Stark gene: CDK8 was added gene: CDK8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK8 were set to 30905399 Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures Review for gene: CDK8 was set to GREEN Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.923 | CSF1R |
Zornitza Stark gene: CSF1R was added gene: CSF1R was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF1R were set to 30982609; 33749994; 34135456 Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS Review for gene: CSF1R was set to GREEN Added comment: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum. Four unrelated families reported. Note mono-allelic variants cause an adult-onset disorder. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.921 | POLR1B |
Zornitza Stark gene: POLR1B was added gene: POLR1B was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR1B were set to 31649276 Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4 Review for gene: POLR1B was set to GREEN Added comment: Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003 Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.919 | EIF5A |
Zornitza Stark gene: EIF5A was added gene: EIF5A was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF5A were set to 33547280 Phenotypes for gene: EIF5A were set to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism Review for gene: EIF5A was set to GREEN Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.917 | EXTL3 |
Zornitza Stark gene: EXTL3 was added gene: EXTL3 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to 28132690; 28148688 Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Review for gene: EXTL3 was set to GREEN Added comment: 12 individuals from 7 families reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.915 | PRRX1 |
Zornitza Stark gene: PRRX1 was added gene: PRRX1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262 Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex, MIM# 202650 Review for gene: PRRX1 was set to GREEN Added comment: Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal. Three unrelated individuals reported with heterozygous LoF variants, one family with bi-allelic variants. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.913 | SLC6A9 | Zornitza Stark Publications for gene: SLC6A9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.910 | SMARCE1 | Zornitza Stark Publications for gene: SMARCE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.908 | KIDINS220 | Zornitza Stark Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.905 | TAB2 | Zornitza Stark Publications for gene: TAB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | ZFPM2 |
Krithika Murali gene: ZFPM2 was added gene: ZFPM2 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFPM2 were set to 16103912; 17568391; 24702427; 10892744; 21919901; 14517948 Phenotypes for gene: ZFPM2 were set to 46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500 Review for gene: ZFPM2 was set to GREEN Added comment: Associated with congenital diaphragmatic hernia, congenital heart disease and sex reversal. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | SLIT3 |
Krithika Murali gene: SLIT3 was added gene: SLIT3 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLIT3 were set to 33933663 Phenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia Review for gene: SLIT3 was set to AMBER Added comment: Two affected individuals, single family, supportive mouse model. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | TRIM71 |
Krithika Murali gene: TRIM71 was added gene: TRIM71 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633 Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1 - #618667 Review for gene: TRIM71 was set to GREEN Added comment: PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child. PMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder PMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | TNFRSF11A |
Krithika Murali gene: TNFRSF11A was added gene: TNFRSF11A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF11A were set to 18606301; 32048120 Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301 Review for gene: TNFRSF11A was set to AMBER Added comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production. Although antenatal diagnosis not specifically reported for this gene, diagnosis of severe osteopetrosis antenatally and during early infancy has been reported, including cases with no causative variants identified (PMID 23085203) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | RNF125 |
Krithika Murali gene: RNF125 was added gene: RNF125 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF125 were set to 25196541 Phenotypes for gene: RNF125 were set to Tenorio syndromem - MIM# 616260 Review for gene: RNF125 was set to GREEN Added comment: 1 de novo deletion and 3 missense mutations in RNF125 in six patients from four families with overgrowth, macrocephaly, intellectual disability and mild hydrocephaly. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | MPDZ |
Krithika Murali gene: MPDZ was added gene: MPDZ was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDZ were set to 28556411; 23240096; 30518636; 29499638 Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies- #615219 Review for gene: MPDZ was set to GREEN Added comment: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | KIF4A |
Krithika Murali gene: KIF4A was added gene: KIF4A was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KIF4A were set to 24812067; 34346154; 30679815 Phenotypes for gene: KIF4A were set to ?Intellectual developmental disorder, X-linked 100 - OMIM# 300923; Hydrocephalus Review for gene: KIF4A was set to GREEN Added comment: KIF4A variants associated with a phenotypic spectrum from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | ISLR2 |
Krithika Murali gene: ISLR2 was added gene: ISLR2 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISLR2 were set to 30483960 Phenotypes for gene: ISLR2 were set to Hydrocephalus; arthrogryposis Review for gene: ISLR2 was set to AMBER Added comment: Homozygous truncating variant in a single consanguineous family segregated with severe congenital hydrocephalus, arthrogryposis multiplex congenita and abdominal distension. Mouse model also had hydrocephalus. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | FOXJ1 |
Krithika Murali gene: FOXJ1 was added gene: FOXJ1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXJ1 were set to 31630787 Phenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43 - MIM# 618699 Review for gene: FOXJ1 was set to GREEN Added comment: Six unrelated individuals with de novo variants in this gene associated with a motile ciliopathy characterized by hydrocephalus, chronic destructive airway disease, and randomization of left/right body asymmetry Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | EEF2 |
Krithika Murali gene: EEF2 was added gene: EEF2 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EEF2 were set to 33355653 Phenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus Review for gene: EEF2 was set to GREEN Added comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly. Sources: Literature, Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | DLL1 |
Krithika Murali gene: DLL1 was added gene: DLL1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DLL1 were set to 31353024 Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures - #618709 Review for gene: DLL1 was set to GREEN Added comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed non-specific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | ATP11A |
Krithika Murali gene: ATP11A was added gene: ATP11A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP11A were set to 34403372 Phenotypes for gene: ATP11A were set to Ventriculomegaly; cerebral atrophy; hypoplasia corpus callosum Review for gene: ATP11A was set to AMBER Added comment: PMID: 34403372 - Single de novo missense variant reported in a patient with developmental delay and neurological deterioration. Epilepsy diagnosed at 2 weeks of age followed by global developmental delay, mild hypothyroidism and cataracts. - Repeated MRI (earliest published is from age 2 yo) showed non-progressive severe cerebral atrophy, enlarged subarachnoid space, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. - Axonal neuropathy suggested. - K/I heterozygous mice died perinatally. - Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc. gnomAD: some NMD PTCs present, good quality variants found with 4-5 hets. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | PLS3 |
Krithika Murali gene: PLS3 was added gene: PLS3 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043 Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis - MIM#300910 Review for gene: PLS3 was set to AMBER Added comment: First reported in 2013 (PMID 24088043). Associated with childhood-onset primary osteoporosis with presentations of varying severity with a phenotype similar to osteogenesis imperfecta. No published reports of antenatal diagnosis. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | MMP9 |
Krithika Murali gene: MMP9 was added gene: MMP9 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP9 were set to 19615667; 28342220; 34407464 Phenotypes for gene: MMP9 were set to Metaphyseal anadysplasia 2 - MIM# 613073 Review for gene: MMP9 was set to GREEN Added comment: Biallelic variants in MMP9 associated with autosomal recessive, metaphyseal anadysplasia type 2. Usually associated with a milder phenotype characterised by normal birth length, transitory bowing of the legs, spontaneous regression and disappearance of metaphyseal alterations during adolescence. Phenotype of MAD type 2 cases secondary to biallelic MMP13 gene mutations (more reported cases associated with this gene) similar to MMP9 associated cases. MMP9-associated MAD type 2 cases reported so far: x2 sibs from 1 consanguineous Pakistani family diagnosed postnatally with normal stature, genu varum, metaphyseal fraying during infancy (PMID 19615667) x1 child from consanguineous family with homozygous nonsense variants diagnosed age 19 months with improvement of skeletal manifestations over a short period and by an early age (PMID 34407464) x2 siblings from x1 non-consanguineous Jewish Caucasian family reported with more severe phenotype than other previously reported cases for MAD type 2 (PMID 28342220). Both siblings diagnosed during 2nd trimester with shortening of long bones. x1 fetus terminated at 19 weeks gestation - dysmorphic face including micrognathia, flattened nose, hypertelorism, short neck and hypoplastic lungs. 2nd liveborn female - reduced body length at birth (-4 SD), facial dysmorphism, cleft palate, anteriorly placed anus and other anomalies. No radiographic metaphyseal anomalies. Both children identified as having the same homozygous MMP9 missense variants. Authors acknowledge the phenotype is more severe than other previously reported cases of MAD type 2 associated with MMP9 or MMP13 gene variants. Some dispute regarding this prenatal case as detailed by PMID 34407464 such as possibility of an alternative skeletal dysplasia diagnosis (Desbuquois dypslasia type 2) and presence of 5 homozygotes in gnomad with the same missense variants - ?founder mutation. Borderline amber-green gene in the prenatal setting based on current evidence. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.885 | CLCNKB | Zornitza Stark Publications for gene: CLCNKB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.882 | DNAH11 | Zornitza Stark Publications for gene: DNAH11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.880 | DNAAF4 | Zornitza Stark Publications for gene: DNAAF4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.878 | DNAAF3 | Zornitza Stark Publications for gene: DNAAF3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.876 | DNAAF1 | Zornitza Stark Publications for gene: DNAAF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.871 | DLL3 | Zornitza Stark Publications for gene: DLL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.869 | DHFR | Zornitza Stark Publications for gene: DHFR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.866 | DHCR7 | Zornitza Stark Publications for gene: DHCR7 were set to 31840946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.864 | SMAD2 |
Zornitza Stark gene: SMAD2 was added gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD2 were set to 29967133; 30157302; 23665959 Phenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease Review for gene: SMAD2 was set to GREEN Added comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far. PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.862 | DHCR24 | Zornitza Stark Publications for gene: DHCR24 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.860 | DDX11 | Zornitza Stark Publications for gene: DDX11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.859 | EMD | Zornitza Stark Publications for gene: EMD were set to 26247046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.856 | TRIP13 | Zornitza Stark Publications for gene: TRIP13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.854 | GTPBP3 | Zornitza Stark Publications for gene: GTPBP3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.852 | GRIP1 | Zornitza Stark Publications for gene: GRIP1 were set to 22510445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.850 | GRHL3 | Zornitza Stark Publications for gene: GRHL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.847 | GNS | Zornitza Stark Publications for gene: GNS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.845 | GNPTAB | Zornitza Stark Publications for gene: GNPTAB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.844 | AMMECR1 | Zornitza Stark Publications for gene: AMMECR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.840 | AMACR | Zornitza Stark Publications for gene: AMACR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.837 | ALOXE3 | Zornitza Stark Publications for gene: ALOXE3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.835 | ALOX12B | Zornitza Stark Publications for gene: ALOX12B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.831 | ALG2 | Zornitza Stark Publications for gene: ALG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.829 | ALG2 |
Zornitza Stark edited their review of gene: ALG2: Added comment: Association with myasthenia: Two families reported, same, likely founder variant. Onset of symptoms was in infancy rather than congenital. Association with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.; Changed publications: 23404334, 24461433, 12684507 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.828 | ALG13 | Zornitza Stark Publications for gene: ALG13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.826 | ALG11 |
Zornitza Stark changed review comment from: Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition. Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans Hypoglycosylation of GP130. Principal phenotypic features include: Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems; to: Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition. Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans Hypoglycosylation of GP130. Principal phenotypic features include: Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems Onset is in first year of life, microcephaly rarely reported. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.825 | MAPKAPK5 |
Zornitza Stark gene: MAPKAPK5 was added gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 33442026 Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic Review for gene: MAPKAPK5 was set to GREEN Added comment: 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers. Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.824 | NADSYN1 | Zornitza Stark Publications for gene: NADSYN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.821 | DDR2 | Zornitza Stark Publications for gene: DDR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.820 | DDR2 | Zornitza Stark changed review comment from: ID is not really a feature of either condition association with this gene.; to: Severe perinatal onset skeletal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.819 | DCX | Zornitza Stark Publications for gene: DCX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.818 | DCX | Zornitza Stark edited their review of gene: DCX: Changed publications: 20301364, 10915612, 9489699, 12552055; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.815 | AIMP1 | Zornitza Stark Publications for gene: AIMP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.813 | AIMP1 |
Zornitza Stark changed review comment from: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported. Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.; to: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported. Note two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants. Progressive disorder, typical onset is in the first few months of life, microcephaly and joint contractures are features. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.810 | AFF3 | Zornitza Stark Publications for gene: AFF3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.804 | ACVR1 | Zornitza Stark Publications for gene: ACVR1 were set to 16642017 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.802 | ACVR1 | Zornitza Stark Publications for gene: ACVR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.798 | ELOVL4 | Zornitza Stark Publications for gene: ELOVL4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.796 | MYH8 | Zornitza Stark Publications for gene: MYH8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.793 | MYH11 | Zornitza Stark Publications for gene: MYH11 were set to 29575632; 25407000; 31427716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.789 | MYH10 | Zornitza Stark Publications for gene: MYH10 were set to 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.786 | MYCN | Zornitza Stark Publications for gene: MYCN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.783 | MSX2 | Zornitza Stark Publications for gene: MSX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.780 | MSX1 | Zornitza Stark Publications for gene: MSX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.777 | MRPS22 | Zornitza Stark Publications for gene: MRPS22 were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.775 | MOCS2 | Zornitza Stark Publications for gene: MOCS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.774 | ELOVL4 |
Belinda Chong changed review comment from: OMIM 614457: ISQMR is a severe autosomal recessive disorder characterised by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. 5 unrelated families reported, seizures in at least 4 of the families. OMIM 133190: Skin lesion appear shortly after birth and tend to disappear in young adulthood. In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956). OMIM 600110: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects; to: OMIM 614457: ISQMR is a severe autosomal recessive disorder characterised by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. 5 unrelated families reported, seizures in at least 4 of the families. OMIM 133190: Skin lesion appear shortly after birth and tend to disappear in young adulthood. In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956). OMIM 600110: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.773 | ACSL4 | Zornitza Stark Publications for gene: ACSL4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.770 | ACO2 | Zornitza Stark Publications for gene: ACO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.769 | ABL1 | Zornitza Stark Publications for gene: ABL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.765 | ABCD4 | Zornitza Stark Publications for gene: ABCD4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.763 | AASS |
Zornitza Stark changed review comment from: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.; to: Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity. Given the uncertainty about whether this is a disease entity and lack of associated congenital anomalies or other features that would be detectable in the prenatal setting, downgraded to RED on this panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.763 | AARS | Zornitza Stark Publications for gene: AARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.761 | DARS |
Zornitza Stark changed review comment from: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. However, two individuals with adolescent onset described in 25527264, mimicking steroid-responsive neuroinflammatory disorder. HGNC approved name DARS1.; to: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. HGNC approved name DARS1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.760 | DARS | Zornitza Stark Publications for gene: DARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.758 | DAG1 | Zornitza Stark Publications for gene: DAG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.754 | CYP2U1 | Zornitza Stark changed review comment from: Neurodegenerative condition rather than truly ID.; to: Neurodegenerative condition with onset in the first decade. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.753 | CYP1B1 | Zornitza Stark Phenotypes for gene: CYP1B1 were changed from PRIMARY CONGENITAL GLAUCOMA TYPE 3A to Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.752 | CYP1B1 | Zornitza Stark Publications for gene: CYP1B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.750 | CYP1B1 | Zornitza Stark reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32224865; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.749 | CYP17A1 | Zornitza Stark Publications for gene: CYP17A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.747 | CYP11B1 | Zornitza Stark Publications for gene: CYP11B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.744 | CYP11A1 | Zornitza Stark Publications for gene: CYP11A1 were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.742 | CWC27 | Zornitza Stark Publications for gene: CWC27 were set to 28285769 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.740 | CUL7 | Zornitza Stark Publications for gene: CUL7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.738 | PPIB | Zornitza Stark Publications for gene: PPIB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.736 | ELAC2 | Zornitza Stark Publications for gene: ELAC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.734 | CUL4B | Zornitza Stark Publications for gene: CUL4B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.731 | CTSD | Zornitza Stark Publications for gene: CTSD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.727 | CTNNB1 | Zornitza Stark Publications for gene: CTNNB1 were set to 27915094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.724 | CTCF | Zornitza Stark Publications for gene: CTCF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.721 | CTC1 | Zornitza Stark Publications for gene: CTC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.719 | CSPP1 | Zornitza Stark Publications for gene: CSPP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.717 | CSNK2A1 | Zornitza Stark Publications for gene: CSNK2A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.714 | CRYGD | Zornitza Stark Publications for gene: CRYGD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.711 | CRYGC | Zornitza Stark Publications for gene: CRYGC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.708 | CRYBB3 | Zornitza Stark Publications for gene: CRYBB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.705 | CRYBB2 | Zornitza Stark Publications for gene: CRYBB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.702 | CRYBB1 | Zornitza Stark Publications for gene: CRYBB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.700 | CRYBA4 | Zornitza Stark Publications for gene: CRYBA4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.697 | CRYBA1 | Zornitza Stark Publications for gene: CRYBA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.694 | CRYAA | Zornitza Stark Publications for gene: CRYAA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.692 | CRTAP | Zornitza Stark Publications for gene: CRTAP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.690 | EIF2AK3 | Zornitza Stark Publications for gene: EIF2AK3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.688 | EDNRA | Zornitza Stark Publications for gene: EDNRA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.686 | EDA | Zornitza Stark Publications for gene: EDA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.683 | DVL3 | Zornitza Stark Publications for gene: DVL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.660 | EN1 |
Krithika Murali gene: EN1 was added gene: EN1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EN1 were set to 33568816 Phenotypes for gene: EN1 were set to ?ENDOVE syndrome, limb-brain type - OMIM#619218 Review for gene: EN1 was set to GREEN Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype. An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.659 | PAX2 | Zornitza Stark Publications for gene: PAX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.656 | PARN | Zornitza Stark Publications for gene: PARN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.654 | SLC30A5 |
Krithika Murali gene: SLC30A5 was added gene: SLC30A5 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A5 were set to 33547425; 12095919 Phenotypes for gene: SLC30A5 were set to Perinatal lethal cardiomyopathy Review for gene: SLC30A5 was set to AMBER Added comment: Four affected children from two unrelated families with cardiomyopathy, hydrops fetalis, or cystic hygroma that all deceased perinatally. 2 different homozygous PTCs variants found. Knockout of SLC30A5 in mouse models showed reduced body growth and reduced bone density. About 60% of the mice died due to bradyarrhythmia. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.654 | MMP13 | Zornitza Stark Publications for gene: MMP13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.651 | DVL1 | Zornitza Stark Publications for gene: DVL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.650 | SCN5A |
Krithika Murali gene: SCN5A was added gene: SCN5A was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to 22064211; 15184283; 19419784 Phenotypes for gene: SCN5A were set to Sudden infant death syndrome, susceptibility to - #272120; Long QT syndrome 3 - #603830 Review for gene: SCN5A was set to GREEN Added comment: Three families reported with severe perinatal presentation, including hydrops Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.648 | KRIT1 | Zornitza Stark Publications for gene: KRIT1 were set to 28749478 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.643 | PRF1 |
Krithika Murali gene: PRF1 was added gene: PRF1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 19595804; 26199792; 30070073 Phenotypes for gene: PRF1 were set to Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553 Review for gene: PRF1 was set to GREEN Added comment: Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed) PMID: 19595804 Vermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period PMID: 26199792 Iwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites PMID: 30070073 Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.643 | KIF22 | Zornitza Stark Publications for gene: KIF22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.639 | MMADHC | Zornitza Stark Publications for gene: MMADHC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.637 | GATA1 |
Krithika Murali gene: GATA1 was added gene: GATA1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GATA1 were set to 10700180 Phenotypes for gene: GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835 Review for gene: GATA1 was set to GREEN Added comment: Can present with severe hydrops in utero requiring transfusion. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.636 | KIAA1109 | Zornitza Stark Publications for gene: KIAA1109 were set to 28749478; 30485398; 29290337 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.634 | KCTD1 | Zornitza Stark Publications for gene: KCTD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.631 | MMACHC | Zornitza Stark Publications for gene: MMACHC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.629 | KCNJ2 | Zornitza Stark Publications for gene: KCNJ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.625 | MLC1 | Zornitza Stark Publications for gene: MLC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.624 | MID1 | Zornitza Stark Publications for gene: MID1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.622 | KAT6B | Zornitza Stark Publications for gene: KAT6B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.619 | KAT6A | Zornitza Stark Publications for gene: KAT6A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.617 | MESP2 | Zornitza Stark Publications for gene: MESP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.616 | MEGF10 | Zornitza Stark Phenotypes for gene: MEGF10 were changed from MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.615 | MEGF10 | Zornitza Stark Publications for gene: MEGF10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.613 | MBTPS2 | Zornitza Stark Publications for gene: MBTPS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | ALPK3 |
Krithika Murali gene: ALPK3 was added gene: ALPK3 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPK3 were set to PMID 26846950. Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27 - #618052 Review for gene: ALPK3 was set to GREEN Added comment: Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950. PMID 28630369 reports male infant diagnosed antenatally with cardiomyopathy after birth. Born to a nonconsanguineous family with a past history of a male fetus that died because of cardiac abnormalities at 30 wk of gestation. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | ZBTB42 |
Krithika Murali gene: ZBTB42 was added gene: ZBTB42 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB42 were set to 25055871 Phenotypes for gene: ZBTB42 were set to ?Lethal congenital contracture syndrome 6- #616248 Review for gene: ZBTB42 was set to AMBER Added comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | UNC50 |
Krithika Murali gene: UNC50 was added gene: UNC50 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC50 were set to 29016857; 33820833 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | TOR1AIP1 |
Krithika Murali gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 33215087; 32055997; 24856141; 31299614; 30723199; 27342937 Phenotypes for gene: TOR1AIP1 were set to ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome Review for gene: TOR1AIP1 was set to GREEN Added comment: Gene is associated with multiple muscle phenotypes. Phenotype highly variable. Single family myasthenic syndrome and supportive mouse model data. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | STIM1 |
Krithika Murali gene: STIM1 was added gene: STIM1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STIM1 were set to 31448844; 20876309 Phenotypes for gene: STIM1 were set to Immunodeficiency 10 - #612783; Myopathy, tubular aggregate, 1 - #160565; Stormorken syndrome - #185070 Review for gene: STIM1 was set to GREEN Added comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence) Dominant STIM1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias) Recessive STIM1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy) --> presentations can be severe, death from disseminated Kaposi sarcoma in an HIV negative 2 year old F reported. Highly variable phenotype - contractures have been reported in the more severely affected individuals. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | SCYL2 |
Krithika Murali gene: SCYL2 was added gene: SCYL2 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL2 were set to 31960134; 26203146 Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum - #618766 Review for gene: SCYL2 was set to AMBER Added comment: 2 unrelated consanguineous families reported with AMC (PMID: 31960134). Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits (PMID: 26203146). Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | PIP5K1C |
Krithika Murali gene: PIP5K1C was added gene: PIP5K1C was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIP5K1C were set to 17701898 Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3 - #611369 Review for gene: PIP5K1C was set to AMBER Added comment: Two families reported in 2007 with same homozygous variant, no reports since. Borderline Red/Amber. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | ORAI1 |
Krithika Murali gene: ORAI1 was added gene: ORAI1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ORAI1 were set to 31448844 Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2 - #615883 Review for gene: ORAI1 was set to GREEN Added comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM) - Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy) Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | MYLPF |
Krithika Murali gene: MYLPF was added gene: MYLPF was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to Distal arthrogryposis type 1C (DA1C), MIM#619110 Review for gene: MYLPF was set to AMBER Added comment: MYLPF gene variants associated with dominant and recessive distal arthrogryposis 6 consanguineous families - homozygous for c.470G>T (p.Cys157Phe) or c.469T>C (p.Cys157Arg) variants 7th family - hetrozygous c.487G>A (p.Gly163Ser) variant 8th family - hetrozygous c.98C>T (p.Ala33Val) variant Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.611 | CRLF1 | Zornitza Stark Publications for gene: CRLF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.610 | CRLF1 |
Zornitza Stark edited their review of gene: CRLF1: Added comment: Micrognathia, camptodactyly are features. Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis. Multiple unrelated families reported.; Changed rating: GREEN; Changed publications: 12509788, 17436251, 17436252 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.608 | CREBBP | Zornitza Stark Publications for gene: CREBBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.606 | CRB2 | Zornitza Stark Publications for gene: CRB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.604 | CPT2 | Zornitza Stark Publications for gene: CPT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.602 | COX7B | Zornitza Stark Publications for gene: COX7B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.601 | COX7B | Zornitza Stark edited their review of gene: COX7B: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.600 | COQ9 | Zornitza Stark Publications for gene: COQ9 were set to 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.598 | COQ4 | Zornitza Stark Publications for gene: COQ4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.596 | COLEC11 | Zornitza Stark Publications for gene: COLEC11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.594 | COL9A2 | Zornitza Stark Publications for gene: COL9A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.591 | COL9A1 | Zornitza Stark Publications for gene: COL9A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.583 | CLCN7 | Zornitza Stark Publications for gene: CLCN7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.582 | MEGF10 |
Daniel Flanagan changed review comment from: At least 4 families reported with early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Two animal models. 1 patient reported to have a cleft palate and 3 with high-arched palates.; to: At least 4 families reported with early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Two animal models. 1/7 patients had a cleft palate and 3/7 with a high-arched palates. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.582 | MEGF10 | Daniel Flanagan reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: None; Publications: 22101682, 22371254, 30802937; Phenotypes: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399), Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant (MIM#614399); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.582 | MBTPS2 | Daniel Flanagan reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380894, 19361614, 21426410; Phenotypes: Osteogenesis imperfecta, type XIX, (MIM301014), IFAP syndrome with or without BRESHECK syndrome (MIM#308205), Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800), ?Olmsted syndrome, X-linked (MIM#300918); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.580 | COL4A2 | Zornitza Stark Publications for gene: COL4A2 were set to 32732225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.577 | COL4A1 | Zornitza Stark Publications for gene: COL4A1 were set to 30266093; 32732225; 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.574 | COL3A1 | Zornitza Stark Publications for gene: COL3A1 were set to 28742248; 24922459; PMID: 28258187; 27168972; 25205403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.570 | COL1A1 | Zornitza Stark Publications for gene: COL1A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.568 | COL18A1 | Zornitza Stark Publications for gene: COL18A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.564 | COL10A1 | Zornitza Stark Publications for gene: COL10A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.561 | COG8 | Zornitza Stark Publications for gene: COG8 were set to 30690882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.559 | COG7 | Zornitza Stark Publications for gene: COG7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.557 | COG4 | Zornitza Stark Publications for gene: COG4 were set to 30290151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.554 | COG1 | Zornitza Stark Publications for gene: COG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.552 | COASY | Zornitza Stark Publications for gene: COASY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.551 | COASY |
Zornitza Stark changed review comment from: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. Note gene is also associated with NBIA. Sources: Expert list; to: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. Note gene is also associated with NBIA but this presents postnatally. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.549 | MEIS2 | Zornitza Stark Publications for gene: MEIS2 were set to 30055086; 27225850; 25712757; 24678003; 30291340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.545 | DSTYK | Zornitza Stark Publications for gene: DSTYK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.541 | DSP | Zornitza Stark Publications for gene: DSP were set to 30993396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.538 | ATP1A2 | Zornitza Stark Publications for gene: ATP1A2 were set to 31608932; 30690204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.534 | MED17 | Zornitza Stark Publications for gene: MED17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.532 | CNTNAP2 | Zornitza Stark changed review comment from: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome.; to: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome. Typical clinical features include delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioural abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.531 | CNTNAP2 | Zornitza Stark Publications for gene: CNTNAP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.529 | CNTNAP1 | Zornitza Stark Publications for gene: CNTNAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.527 | CNOT3 | Zornitza Stark Publications for gene: CNOT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.524 | CNOT1 | Zornitza Stark Publications for gene: CNOT1 were set to 31006513; 31006510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.521 | CLPB | Zornitza Stark Publications for gene: CLPB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.519 | CLPB |
Zornitza Stark changed review comment from: Bi-allelic variants: 3-Methylglutaconic aciduria (MGCA7) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections. More than 10 unrelated families reported. Mono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria.; to: Bi-allelic variants: 3-Methylglutaconic aciduria (MGCA7) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections. Microcephaly is a feature. More than 10 unrelated families reported. Mono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.518 | DNMT3B | Zornitza Stark Publications for gene: DNMT3B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.516 | CKAP2L | Zornitza Stark Publications for gene: CKAP2L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.514 | CHUK | Zornitza Stark Publications for gene: CHUK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.510 | CHSY1 | Zornitza Stark Publications for gene: CHSY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.508 | CHST3 | Zornitza Stark Publications for gene: CHST3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.506 | CHST14 | Zornitza Stark Publications for gene: CHST14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.504 | CHRNG | Zornitza Stark Publications for gene: CHRNG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.500 | CHRND | Zornitza Stark Publications for gene: CHRND were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.497 | P3H1 | Zornitza Stark Publications for gene: P3H1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.494 | ITGA6 | Zornitza Stark Publications for gene: ITGA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.489 | INTU | Zornitza Stark Publications for gene: INTU were set to 28289185; 29451301; 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.488 | INPPL1 | Seb Lunke Publications for gene: INPPL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.486 | MATN3 | Seb Lunke Publications for gene: MATN3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.485 | IMPAD1 | Zornitza Stark Publications for gene: IMPAD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.482 | IL1RAPL1 | Zornitza Stark Publications for gene: IL1RAPL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.479 | MAP3K1 | Seb Lunke Publications for gene: MAP3K1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.475 | IL11RA | Seb Lunke Publications for gene: IL11RA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.474 | IHH | Zornitza Stark Publications for gene: IHH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.471 | MAFB | Zornitza Stark Publications for gene: MAFB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.467 | IGHMBP2 | Zornitza Stark Publications for gene: IGHMBP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.465 | IFIH1 | Zornitza Stark Publications for gene: IFIH1 were set to 25542954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.461 | IDUA | Seb Lunke Publications for gene: IDUA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.459 | IDS | Zornitza Stark Publications for gene: IDS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.458 | MAF | Seb Lunke Phenotypes for gene: MAF were changed from CATARACT CONGENITAL CERULEAN TYPE 4; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED; CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to Ayme-Gripp syndrome (MIM#601088) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.457 | MAF | Seb Lunke Publications for gene: MAF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.454 | LTBP4 | Zornitza Stark Publications for gene: LTBP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.452 | LTBP3 | Zornitza Stark Publications for gene: LTBP3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.449 | LRP4 | Zornitza Stark Publications for gene: LRP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.447 | CHKB | Zornitza Stark Publications for gene: CHKB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.445 | CHD7 | Zornitza Stark Publications for gene: CHD7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.443 | CHD4 | Zornitza Stark Publications for gene: CHD4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.441 | CHAT | Zornitza Stark Publications for gene: CHAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.439 | CHAMP1 | Zornitza Stark Publications for gene: CHAMP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.435 | CFC1 | Zornitza Stark Publications for gene: CFC1 were set to 11062482; 11799476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.433 | CFAP53 | Zornitza Stark Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 26531781; PMID: 25504577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.431 | CEP83 | Zornitza Stark Publications for gene: CEP83 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.429 | CEP57 | Zornitza Stark Publications for gene: CEP57 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.427 | CEP41 | Zornitza Stark Publications for gene: CEP41 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.425 | CEP290 | Zornitza Stark Publications for gene: CEP290 were set to 16682973; 16682970; 17705300; 33370260; 32600475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.424 | CEP290 | Zornitza Stark Publications for gene: CEP290 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.422 | CEP164 | Zornitza Stark Publications for gene: CEP164 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.420 | CEP152 | Zornitza Stark Publications for gene: CEP152 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.418 | CEP120 | Zornitza Stark Publications for gene: CEP120 were set to PMID: 2720821; 25361962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.416 | CEP104 | Zornitza Stark Publications for gene: CEP104 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.414 | CENPJ | Zornitza Stark Publications for gene: CENPJ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.411 | CDON | Zornitza Stark Publications for gene: CDON were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.409 | CDKN1C | Zornitza Stark Publications for gene: CDKN1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.407 | CDKL5 | Zornitza Stark Publications for gene: CDKL5 were set to 19793311 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.407 | CDKL5 | Zornitza Stark Publications for gene: CDKL5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.406 | CDKL5 | Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19793311; Phenotypes: Developmental and epileptic encephalopathy 2, MIM# 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.404 | CDK13 | Zornitza Stark Publications for gene: CDK13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.402 | CDH3 | Zornitza Stark Publications for gene: CDH3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.400 | CDH1 | Zornitza Stark Publications for gene: CDH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.397 | CDC6 | Zornitza Stark Publications for gene: CDC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.394 | CDC45 | Zornitza Stark Publications for gene: CDC45 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.392 | CDAN1 | Zornitza Stark Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.390 | CCND2 | Zornitza Stark Publications for gene: CCND2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.387 | CCDC40 | Zornitza Stark Publications for gene: CCDC40 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.385 | CCDC39 | Zornitza Stark Publications for gene: CCDC39 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.383 | CCDC114 | Zornitza Stark Publications for gene: CCDC114 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.381 | CCDC103 | Zornitza Stark Publications for gene: CCDC103 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.379 | CC2D2A | Zornitza Stark Publications for gene: CC2D2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.377 | CBL | Zornitza Stark Publications for gene: CBL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.373 | CASK | Zornitza Stark Publications for gene: CASK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.372 | CASK | Zornitza Stark Mode of inheritance for gene: CASK was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.370 | CACNA1E | Zornitza Stark Publications for gene: CACNA1E were set to 30849329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.367 | CACNA1C | Zornitza Stark Publications for gene: CACNA1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.364 | CA8 | Zornitza Stark Publications for gene: CA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.360 | C8orf37 | Zornitza Stark Publications for gene: C8orf37 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.357 | C5orf42 | Zornitza Stark Publications for gene: C5orf42 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.355 | C21orf2 | Zornitza Stark Publications for gene: C21orf2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.353 | C12orf65 | Zornitza Stark Publications for gene: C12orf65 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.349 | BUB1B | Zornitza Stark Publications for gene: BUB1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.344 | BRPF1 | Zornitza Stark Publications for gene: BRPF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.339 | BRAT1 | Zornitza Stark Publications for gene: BRAT1 were set to 23035047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.338 | BRAT1 |
Zornitza Stark edited their review of gene: BRAT1: Added comment: RMFSL: Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life. More than 5 unrelated families reported. Neurodevelopmental disorder with cerebellar atrophy, with or without seizures: at least 4 families reported with this milder disorder, which typically has onset in infancy. The two disorders likely represent a continuum. Both disorders associated with this gene have microcephaly as a feature.; Changed publications: 26483087, 26494257, 27282546, 22279524, 23035047, 25319849, 25500575 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.337 | BRAF | Zornitza Stark Publications for gene: BRAF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.334 | BMPR1B | Zornitza Stark Publications for gene: BMPR1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.332 | BMPER | Zornitza Stark Publications for gene: BMPER were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.331 | BMPER |
Zornitza Stark changed review comment from: Perinatal lethal skeletal dysplasia. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases; to: Perinatal lethal skeletal dysplasia. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases. At least 5 unrelated families reported. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.331 | BMPER |
Zornitza Stark changed review comment from: Perinatal lethal skeletal dysplasia.; to: Perinatal lethal skeletal dysplasia. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.330 | BMP4 | Zornitza Stark Publications for gene: BMP4 were set to 21340693; 31053785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.329 | BMP4 | Zornitza Stark Publications for gene: BMP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.326 | BMP2 | Zornitza Stark Publications for gene: BMP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.323 | BMP1 | Zornitza Stark Publications for gene: BMP1 were set to 28513615 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.321 | BLM | Zornitza Stark Publications for gene: BLM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.320 | BIN1 | Zornitza Stark Publications for gene: BIN1 were set to 17676042; 17676042 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.318 | BIN1 | Zornitza Stark Publications for gene: BIN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.317 | BIN1 | Zornitza Stark changed review comment from: ID is generally not part of the phenotype of this myopathy, mild ID reported in one individual only.; to: Variable onset from congenital to childhood. Congenital contractures reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.316 | BHLHA9 | Zornitza Stark Publications for gene: BHLHA9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.313 | BGN | Zornitza Stark Publications for gene: BGN were set to 27236923; 27632686 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.311 | DLL4 | Zornitza Stark Publications for gene: DLL4 were set to 26299364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.309 | DLL4 | Zornitza Stark Publications for gene: DLL4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.306 | BFSP2 | Zornitza Stark Publications for gene: BFSP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.303 | BCS1L | Zornitza Stark Publications for gene: BCS1L were set to 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.301 | BCOR | Zornitza Stark Publications for gene: BCOR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.299 | BCL11A | Zornitza Stark Publications for gene: BCL11A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.296 | BCAP31 | Zornitza Stark Publications for gene: BCAP31 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.294 | BBS9 | Zornitza Stark Publications for gene: BBS9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.292 | BBS7 | Zornitza Stark Publications for gene: BBS7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.290 | BBS5 | Zornitza Stark Publications for gene: BBS5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.288 | BBS4 | Zornitza Stark Publications for gene: BBS4 were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.286 | BBS2 | Zornitza Stark Publications for gene: BBS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.284 | BBS12 | Zornitza Stark Publications for gene: BBS12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.282 | BBS10 | Zornitza Stark Publications for gene: BBS10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.281 | BBS1 | Zornitza Stark Publications for gene: BBS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.279 | B4GALT7 | Zornitza Stark Publications for gene: B4GALT7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.277 | B3GLCT | Zornitza Stark Publications for gene: B3GLCT were set to 29096039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.276 | B3GAT3 | Zornitza Stark Publications for gene: B3GAT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.274 | B3GALT6 | Zornitza Stark Publications for gene: B3GALT6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.272 | DKC1 | Zornitza Stark Publications for gene: DKC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.270 | DIS3L2 | Zornitza Stark Publications for gene: DIS3L2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.268 | DHODH | Zornitza Stark Publications for gene: DHODH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.266 | DDX3X | Zornitza Stark Publications for gene: DDX3X were set to 30266093; 26235985; 25533962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.263 | HSPD1 | Zornitza Stark Publications for gene: HSPD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.258 | ADCY6 | Zornitza Stark Publications for gene: ADCY6 were set to 24319099, 26257172, 31846058; 33820833 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.255 | LIPA | Zornitza Stark Publications for gene: LIPA were set to 12666227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.253 | DCHS1 | Zornitza Stark Publications for gene: DCHS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.248 | LIG4 | Zornitza Stark Publications for gene: LIG4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.244 | HPSE2 | Zornitza Stark Publications for gene: HPSE2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.242 | LIFR | Zornitza Stark Publications for gene: LIFR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.237 | HOXA1 | Zornitza Stark Publications for gene: HOXA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.235 | LHX4 | Zornitza Stark Publications for gene: LHX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.231 | HNF4A | Zornitza Stark Phenotypes for gene: HNF4A were changed from HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1; ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.226 | LAMC3 | Zornitza Stark Publications for gene: LAMC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.224 | HIBCH | Zornitza Stark Publications for gene: HIBCH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.223 | HES7 | Zornitza Stark Publications for gene: HES7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.219 | HAAO | Zornitza Stark Publications for gene: HAAO were set to 28792876 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.217 | L2HGDH | Zornitza Stark Publications for gene: L2HGDH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.214 | TOP2B |
Zornitza Stark gene: TOP2B was added gene: TOP2B was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOP2B were set to 31409799 Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Review for gene: TOP2B was set to GREEN Added comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.213 | DDX3X | Belinda Chong reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 30936465, 31274575, 30817323; Phenotypes: Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.212 | SCN2A | Seb Lunke Publications for gene: SCN2A were set to 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.210 | ATRX | Zornitza Stark Publications for gene: ATRX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.207 | ATP6V0A2 | Zornitza Stark Publications for gene: ATP6V0A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.205 | ATIC | Zornitza Stark Publications for gene: ATIC were set to 15114530; 32557644 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.205 | ATIC | Zornitza Stark Publications for gene: ATIC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.201 | SC5D | Seb Lunke Publications for gene: SC5D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.199 | ASXL1 | Zornitza Stark Publications for gene: ASXL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.194 | ASPM | Zornitza Stark Publications for gene: ASPM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.192 | ASNS | Zornitza Stark Publications for gene: ASNS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.188 | ASAH1 | Zornitza Stark Publications for gene: ASAH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.186 | ARX | Zornitza Stark Publications for gene: ARX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.185 | ARX |
Zornitza Stark changed review comment from: X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome; to: X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype. LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome. Variants in this gene can also cause ID/EE in the absence of congenital anomalies. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.185 | ARX | Zornitza Stark edited their review of gene: ARX: Added comment: X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome; Changed rating: GREEN; Changed publications: 14722918, 12379852, 14722918; Changed phenotypes: Hydranencephaly with abnormal genitalia, MIM# 300215, Lissencephaly, X-linked 2, MIM# 300215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.184 | SAMHD1 | Seb Lunke Publications for gene: SAMHD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.181 | ARSB | Zornitza Stark Publications for gene: ARSB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.176 | ARMC9 | Zornitza Stark Publications for gene: ARMC9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.174 | ARMC4 | Zornitza Stark Publications for gene: ARMC4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.172 | ARL6 | Zornitza Stark Publications for gene: ARL6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.170 | ARID1B | Zornitza Stark Publications for gene: ARID1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.167 | ARID1A | Zornitza Stark Publications for gene: ARID1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.163 | ARCN1 | Zornitza Stark Publications for gene: ARCN1 were set to 27476655 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.159 | AP4E1 | Zornitza Stark Publications for gene: AP4E1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.158 | ATAD1 |
Krithika Murali gene: ATAD1 was added gene: ATAD1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 28180185; 29390050; 29659736 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4 - #618011 Review for gene: ATAD1 was set to GREEN Added comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. Severe progressive neurological disorder, severe/profound intellectual disability is a feature. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.158 | ADCY6 |
Krithika Murali gene: ADCY6 was added gene: ADCY6 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADCY6 were set to 24319099, 26257172, 31846058; 33820833 Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8 - #616287 Review for gene: ADCY6 was set to GREEN Added comment: PMID: 33820833 (2021) - Further 2 sibs reported with a homozygous c.3346C>T:p.Arg1116Cys variant in the ADCY6 gene. The family was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and IUGR were detected prenatally. Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth. Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency. Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.157 | AP1S2 | Zornitza Stark Publications for gene: AP1S2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.155 | ANTXR1 | Zornitza Stark Publications for gene: ANTXR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.153 | ANOS1 | Zornitza Stark Publications for gene: ANOS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.151 | ANKRD11 | Zornitza Stark Publications for gene: ANKRD11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.148 | ANKH | Zornitza Stark Publications for gene: ANKH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.144 | AMT | Zornitza Stark Publications for gene: AMT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.143 | HNF4A | Ain Roesley reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.142 | ITGA3 | Zornitza Stark Publications for gene: ITGA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.140 | EFEMP2 |
Zornitza Stark gene: EFEMP2 was added gene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFEMP2 were set to 30140196; 23532871; 31548410; 19664000 Phenotypes for gene: EFEMP2 were set to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437 Review for gene: EFEMP2 was set to GREEN Added comment: Associated with pulmonary hypoplasia, hypoplastic diaphragm and diffuse lung disease, fractures, arthrogryposis. Over 20 unrelated families reported in the literature. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.138 | CCBE1 | Zornitza Stark Publications for gene: CCBE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | FAM111A | Zornitza Stark Publications for gene: FAM111A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.131 | BICD2 | Zornitza Stark Publications for gene: BICD2 were set to 27751653; 30054298; 29274205; 28635954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.129 | AMPD2 | Zornitza Stark Publications for gene: AMPD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.127 | AMER1 | Zornitza Stark Publications for gene: AMER1 were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.126 | AMER1 | Zornitza Stark reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20209645, 19079258; Phenotypes: Osteopathia striata with cranial sclerosis, MIM# 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.125 | ALX4 | Zornitza Stark Publications for gene: ALX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.121 | ALX3 | Zornitza Stark Publications for gene: ALX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.119 | ALX1 | Zornitza Stark Publications for gene: ALX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.117 | KMT5B | Zornitza Stark Publications for gene: KMT5B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.114 | ALPL | Zornitza Stark Publications for gene: ALPL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.110 | ALG8 | Zornitza Stark Publications for gene: ALG8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.108 | ALG6 | Zornitza Stark Publications for gene: ALG6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.105 | ALG12 | Zornitza Stark Publications for gene: ALG12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.103 | ALG1 | Zornitza Stark Publications for gene: ALG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.94 | ALDH1A3 | Zornitza Stark Publications for gene: ALDH1A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.92 | ALDH3A2 | Zornitza Stark Publications for gene: ALDH3A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.89 | SMCHD1 | Zornitza Stark Publications for gene: SMCHD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.83 | ALDH18A1 | Zornitza Stark Publications for gene: ALDH18A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.80 | AKT3 | Zornitza Stark Publications for gene: AKT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.79 | AKT1 | Zornitza Stark Publications for gene: AKT1 were set to 33030203l23246288; 21793738 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.77 | AKT1 | Zornitza Stark Publications for gene: AKT1 were set to 33030203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.73 | AHI1 | Zornitza Stark Publications for gene: AHI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.70 | AHDC1 | Zornitza Stark Publications for gene: AHDC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.67 | AGTR1 |
Zornitza Stark gene: AGTR1 was added gene: AGTR1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTR1 were set to 16116425 Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, MIM# 267430 Added comment: Three unrelated families reported. Severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.65 | AGT |
Zornitza Stark gene: AGT was added gene: AGT was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGT were set to 16116425; 34234805; 33163725 Phenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430 Review for gene: AGT was set to GREEN Added comment: Well established gene-disease association, more than 10 unrelated families reported. Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.62 | AFF4 | Zornitza Stark Publications for gene: AFF4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.58 | ADNP | Zornitza Stark Publications for gene: ADNP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.55 | ADGRG6 | Zornitza Stark Publications for gene: ADGRG6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.54 | ADGRG6 | Zornitza Stark changed review comment from: Three other families reported but with severe prenatal onset arthrogryposis, unclear if CNS features.; to: Three other families reported but with severe prenatal onset arthrogryposis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.54 | ADGRG1 | Zornitza Stark Publications for gene: ADGRG1 were set to 16240336; 33299078 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.52 | ADGRG1 | Zornitza Stark Publications for gene: ADGRG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.49 | ADAMTSL2 | Zornitza Stark Publications for gene: ADAMTSL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.47 | ADAMTS10 | Zornitza Stark Publications for gene: ADAMTS10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.44 | ACVR2B | Zornitza Stark Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.35 | ACTC1 | Zornitza Stark Publications for gene: ACTC1 were set to 24461919 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.30 | ACE | Zornitza Stark Publications for gene: ACE were set to 30058238 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.26 | ACTA2 | Zornitza Stark Publications for gene: ACTA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.16 | ABHD5 | Zornitza Stark Publications for gene: ABHD5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZNF711 |
Zornitza Stark gene: ZNF711 was added gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZNF3 |
Zornitza Stark gene: ZNF3 was added gene: ZNF3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF3 were set to 32732226 Phenotypes for gene: ZNF3 were set to Hydrocephaly; Facial cleft |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZFYVE26 |
Zornitza Stark gene: ZFYVE26 was added gene: ZFYVE26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZDHHC9 |
Zornitza Stark gene: ZDHHC9 was added gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | XPC |
Zornitza Stark gene: XPC was added gene: XPC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | XPA |
Zornitza Stark gene: XPA was added gene: XPA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR91 |
Zornitza Stark gene: WDR91 was added gene: WDR91 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR91 were set to 32732226; 34028500; 28860274 Phenotypes for gene: WDR91 were set to Hydrocephaly; Hygroma |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR45 |
Zornitza Stark gene: WDR45 was added gene: WDR45 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR11 |
Zornitza Stark gene: WDR11 was added gene: WDR11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR11 were set to KALLMANN SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WASHC5 |
Zornitza Stark gene: WASHC5 was added gene: WASHC5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WASHC5 were set to Ritscher-Schinzel syndrome 1 220210; Spastic paraplegia 8, autosomal dominant 603563 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WAC |
Zornitza Stark gene: WAC was added gene: WAC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY; WAC syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UVSSA |
Zornitza Stark gene: UVSSA was added gene: UVSSA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | USB1 |
Zornitza Stark gene: USB1 was added gene: USB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UROC1 |
Zornitza Stark gene: UROC1 was added gene: UROC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UPF3B |
Zornitza Stark gene: UPF3B was added gene: UPF3B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UNC80 |
Zornitza Stark gene: UNC80 was added gene: UNC80 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UGT1A1 |
Zornitza Stark gene: UGT1A1 was added gene: UGT1A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UFM1 |
Zornitza Stark gene: UFM1 was added gene: UFM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 29868776 Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly, |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UFC1 |
Zornitza Stark gene: UFC1 was added gene: UFC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UBE3A |
Zornitza Stark gene: UBE3A was added gene: UBE3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UBE2A |
Zornitza Stark gene: UBE2A was added gene: UBE2A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UBA5 |
Zornitza Stark gene: UBA5 was added gene: UBA5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TYRP1 |
Zornitza Stark gene: TYRP1 was added gene: TYRP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TYR |
Zornitza Stark gene: TYR was added gene: TYR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TUSC3 |
Zornitza Stark gene: TUSC3 was added gene: TUSC3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TTC19 |
Zornitza Stark gene: TTC19 was added gene: TTC19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TSPAN7 |
Zornitza Stark gene: TSPAN7 was added gene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TSHR |
Zornitza Stark gene: TSHR was added gene: TSHR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TSHR were set to HYPERTHYROIDISM, FAMILIAL GESTATIONAL; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TSHB |
Zornitza Stark gene: TSHB was added gene: TSHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRPM1 |
Zornitza Stark gene: TRPM1 was added gene: TRPM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRAPPC2 |
Zornitza Stark gene: TRAPPC2 was added gene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TPP1 |
Zornitza Stark gene: TPP1 was added gene: TPP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TOGARAM1 |
Zornitza Stark gene: TOGARAM1 was added gene: TOGARAM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439 Phenotypes for gene: TOGARAM1 were set to Cerebral dysgenesis; Cleft of the lip and palate; Hydrocephalus; Microphthalmia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TNXB |
Zornitza Stark gene: TNXB was added gene: TNXB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TNXB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TNXB were set to Vesicoureteral reflux 8 615963; Ehlers-Danlos syndrome due to tenascin X deficiency 606408 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TNFRSF11B |
Zornitza Stark gene: TNFRSF11B was added gene: TNFRSF11B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11B were set to Paget disease 239000 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMPRSS6 |
Zornitza Stark gene: TMPRSS6 was added gene: TMPRSS6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMEM70 |
Zornitza Stark gene: TMEM70 was added gene: TMEM70 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMEM126B |
Zornitza Stark gene: TMEM126B was added gene: TMEM126B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TK2 |
Zornitza Stark gene: TK2 was added gene: TK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TIMM8A |
Zornitza Stark gene: TIMM8A was added gene: TIMM8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | THAP1 |
Zornitza Stark gene: THAP1 was added gene: THAP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TH |
Zornitza Stark gene: TH was added gene: TH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TGFB1 |
Zornitza Stark gene: TGFB1 was added gene: TGFB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TERT |
Zornitza Stark gene: TERT was added gene: TERT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TEK |
Zornitza Stark gene: TEK was added gene: TEK was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TCN2 |
Zornitza Stark gene: TCN2 was added gene: TCN2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TBXAS1 |
Zornitza Stark gene: TBXAS1 was added gene: TBXAS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TAT |
Zornitza Stark gene: TAT was added gene: TAT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TANGO2 |
Zornitza Stark gene: TANGO2 was added gene: TANGO2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SYP |
Zornitza Stark gene: SYP was added gene: SYP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SYNGAP1 |
Zornitza Stark gene: SYNGAP1 was added gene: SYNGAP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SYNGAP1 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5; EPILEPTIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SURF1 |
Zornitza Stark gene: SURF1 was added gene: SURF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to LEIGH SYNDROME; COMPLEX IV DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | STXBP1 |
Zornitza Stark gene: STXBP1 was added gene: STXBP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | STS |
Zornitza Stark gene: STS was added gene: STS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | STAT1 |
Zornitza Stark gene: STAT1 was added gene: STAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: STAT1 were set to STAT1 DEFICIENCY COMPLETE; FAMILIAL CANDIDIASIS TYPE 7; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | STAG1 |
Zornitza Stark gene: STAG1 was added gene: STAG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SPTLC2 |
Zornitza Stark gene: SPTLC2 was added gene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SPTBN5 |
Zornitza Stark gene: SPTBN5 was added gene: SPTBN5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SPTBN5 was set to Unknown Publications for gene: SPTBN5 were set to 28007035; 32732226 Phenotypes for gene: SPTBN5 were set to Sacral agenesis; Multicystic kidney; Oligohydramnios |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SPTBN2 |
Zornitza Stark gene: SPTBN2 was added gene: SPTBN2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 28636205; 29196973 Phenotypes for gene: SPTBN2 were set to Infantile ataxia with oculomotor and pyramidal signs; SCA14; Spinocerebellar ataxia, autosomal recessive 14, 615386 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SPRY4 |
Zornitza Stark gene: SPRY4 was added gene: SPRY4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SPRY4 was set to Unknown Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SPR |
Zornitza Stark gene: SPR was added gene: SPR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SP110 |
Zornitza Stark gene: SP110 was added gene: SP110 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency 235550 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SMARCAL1 |
Zornitza Stark gene: SMARCAL1 was added gene: SMARCAL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC9A6 |
Zornitza Stark gene: SLC9A6 was added gene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC6A8 |
Zornitza Stark gene: SLC6A8 was added gene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC6A5 |
Zornitza Stark gene: SLC6A5 was added gene: SLC6A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC6A3 |
Zornitza Stark gene: SLC6A3 was added gene: SLC6A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC6A1 |
Zornitza Stark gene: SLC6A1 was added gene: SLC6A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC5A5 |
Zornitza Stark gene: SLC5A5 was added gene: SLC5A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC52A3 |
Zornitza Stark gene: SLC52A3 was added gene: SLC52A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC52A2 |
Zornitza Stark gene: SLC52A2 was added gene: SLC52A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 22740598; 24253200 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC4A4 |
Zornitza Stark gene: SLC4A4 was added gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 16636648; 10545938; 11131345 Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC4A11 |
Zornitza Stark gene: SLC4A11 was added gene: SLC4A11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC4A1 |
Zornitza Stark gene: SLC4A1 was added gene: SLC4A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC46A1 |
Zornitza Stark gene: SLC46A1 was added gene: SLC46A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC39A13 |
Zornitza Stark gene: SLC39A13 was added gene: SLC39A13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC37A4 |
Zornitza Stark gene: SLC37A4 was added gene: SLC37A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib 232220 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC2A2 |
Zornitza Stark gene: SLC2A2 was added gene: SLC2A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC2A1 |
Zornitza Stark gene: SLC2A1 was added gene: SLC2A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 2; GLUT1 DEFICIENCY SYNDROME TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC25A26 |
Zornitza Stark gene: SLC25A26 was added gene: SLC25A26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC25A15 |
Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC22A5 |
Zornitza Stark gene: SLC22A5 was added gene: SLC22A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC19A3 |
Zornitza Stark gene: SLC19A3 was added gene: SLC19A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SKIV2L |
Zornitza Stark gene: SKIV2L was added gene: SKIV2L was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SIX1 |
Zornitza Stark gene: SIX1 was added gene: SIX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SIM1 |
Zornitza Stark gene: SIM1 was added gene: SIM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SIM1 were set to 23778136; 23778139; 28472148 Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SIK1 |
Zornitza Stark gene: SIK1 was added gene: SIK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SHROOM4 |
Zornitza Stark gene: SHROOM4 was added gene: SHROOM4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SHROOM4 were set to 32565546 Phenotypes for gene: SHROOM4 were set to Stocco dos Santos X-linked mental retardation syndrome, 300434 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SGCA |
Zornitza Stark gene: SGCA was added gene: SGCA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D 608099 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SELENON |
Zornitza Stark gene: SELENON was added gene: SELENON was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SDHAF1 |
Zornitza Stark gene: SDHAF1 was added gene: SDHAF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SDHA |
Zornitza Stark gene: SDHA was added gene: SDHA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHA were set to LEIGH SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCO1 |
Zornitza Stark gene: SCO1 was added gene: SCO1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCN8A |
Zornitza Stark gene: SCN8A was added gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN8A were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCN7A |
Zornitza Stark gene: SCN7A was added gene: SCN7A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN7A were set to 32732226 Phenotypes for gene: SCN7A were set to Holoprosencephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCN1B |
Zornitza Stark gene: SCN1B was added gene: SCN1B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1; BRUGADA SYNDROME 5 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCN1A |
Zornitza Stark gene: SCN1A was added gene: SCN1A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN1A were set to 29543227; 32928894 Phenotypes for gene: SCN1A were set to Dravet syndrome, OMIM:607208; Arthrogryposis multiplex congenita |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCN11A |
Zornitza Stark gene: SCN11A was added gene: SCN11A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RTN4IP1 |
Zornitza Stark gene: RTN4IP1 was added gene: RTN4IP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RSPO4 |
Zornitza Stark gene: RSPO4 was added gene: RSPO4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RSPH3 |
Zornitza Stark gene: RSPH3 was added gene: RSPH3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH3 were set to 30166424 Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RSPH1 |
Zornitza Stark gene: RSPH1 was added gene: RSPH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH1 were set to 30166424 Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RPGRIP1 |
Zornitza Stark gene: RPGRIP1 was added gene: RPGRIP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1 were set to CONE-ROD DYSTROPHY 13; LEBER CONGENITAL AMAUROSIS 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RPE65 |
Zornitza Stark gene: RPE65 was added gene: RPE65 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RFWD3 |
Zornitza Stark gene: RFWD3 was added gene: RFWD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFWD3 were set to 28691929 Phenotypes for gene: RFWD3 were set to ?Fanconi anemia, complementation group W, OMIM:617784 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RETREG1 |
Zornitza Stark gene: RETREG1 was added gene: RETREG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RAB39B |
Zornitza Stark gene: RAB39B was added gene: RAB39B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RAB39B were set to 29152164; 20159109 Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | QDPR |
Zornitza Stark gene: QDPR was added gene: QDPR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PYGL |
Zornitza Stark gene: PYGL was added gene: PYGL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PURA |
Zornitza Stark gene: PURA was added gene: PURA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTEN were set to LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; COWDEN DISEASE; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS; MACROCEPHALY/AUTISM SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PTCHD1 |
Zornitza Stark gene: PTCHD1 was added gene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PTCHD1 were set to AUTISM/ID |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PSMB8 |
Zornitza Stark gene: PSMB8 was added gene: PSMB8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PRX |
Zornitza Stark gene: PRX was added gene: PRX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PRX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease, type 4F 614895; Dejerine-Sottas disease 145900 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PRSS12 |
Zornitza Stark gene: PRSS12 was added gene: PRSS12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PRRT2 |
Zornitza Stark gene: PRRT2 was added gene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PRPS1 |
Zornitza Stark gene: PRPS1 was added gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to DEAFNESS X-LINKED TYPE 1; PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5; ARTS SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PROP1 |
Zornitza Stark gene: PROP1 was added gene: PROP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PROKR2 |
Zornitza Stark gene: PROKR2 was added gene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PROKR2 were set to 17054399 Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PROK2 |
Zornitza Stark gene: PROK2 was added gene: PROK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PROK2 were set to 17054399; 30712880 Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PRDM12 |
Zornitza Stark gene: PRDM12 was added gene: PRDM12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PPT1 |
Zornitza Stark gene: PPT1 was added gene: PPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PPM1D |
Zornitza Stark gene: PPM1D was added gene: PPM1D was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPM1D were set to PPM1D syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PPA2 |
Zornitza Stark gene: PPA2 was added gene: PPA2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | POLG |
Zornitza Stark gene: POLG was added gene: POLG was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | POLD1 |
Zornitza Stark gene: POLD1 was added gene: POLD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | POC1B |
Zornitza Stark gene: POC1B was added gene: POC1B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PNPT1 |
Zornitza Stark gene: PNPT1 was added gene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER; HEARING LOSS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PMS2 |
Zornitza Stark gene: PMS2 was added gene: PMS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PMP22 |
Zornitza Stark gene: PMP22 was added gene: PMP22 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PMP22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PMP22 were set to Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 1A 118220; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, type 1E 118300; Neuropathy, inflammatory demyelinating 139393 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLP1 |
Zornitza Stark gene: PLP1 was added gene: PLP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1; SPASTIC PARAPLEGIA X-LINKED TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLCE1 |
Zornitza Stark gene: PLCE1 was added gene: PLCE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLA2G6 |
Zornitza Stark gene: PLA2G6 was added gene: PLA2G6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PGK1 |
Zornitza Stark gene: PGK1 was added gene: PGK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PDSS2 |
Zornitza Stark gene: PDSS2 was added gene: PDSS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PDHX |
Zornitza Stark gene: PDHX was added gene: PDHX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PDHB |
Zornitza Stark gene: PDHB was added gene: PDHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 26865159 Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PDE6G |
Zornitza Stark gene: PDE6G was added gene: PDE6G was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PCDH19 |
Zornitza Stark gene: PCDH19 was added gene: PCDH19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PCDH19 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PCCB |
Zornitza Stark gene: PCCB was added gene: PCCB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PCCA |
Zornitza Stark gene: PCCA was added gene: PCCA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PCBD1 |
Zornitza Stark gene: PCBD1 was added gene: PCBD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PC |
Zornitza Stark gene: PC was added gene: PC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PAX9 |
Zornitza Stark gene: PAX9 was added gene: PAX9 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PAH |
Zornitza Stark gene: PAH was added gene: PAH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAH were set to PHENYLKETONURIA; NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | OXCT1 |
Zornitza Stark gene: OXCT1 was added gene: OXCT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | OTULIN |
Zornitza Stark gene: OTULIN was added gene: OTULIN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | OTOGL |
Zornitza Stark gene: OTOGL was added gene: OTOGL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NYX |
Zornitza Stark gene: NYX was added gene: NYX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NTRK1 |
Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NT5C3A |
Zornitza Stark gene: NT5C3A was added gene: NT5C3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NT5C2 |
Zornitza Stark gene: NT5C2 was added gene: NT5C2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, autosomal recessive 613162 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NSMF |
Zornitza Stark gene: NSMF was added gene: NSMF was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia 614838 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NR2F1 |
Zornitza Stark gene: NR2F1 was added gene: NR2F1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NPHS2 |
Zornitza Stark gene: NPHS2 was added gene: NPHS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NMNAT1 |
Zornitza Stark gene: NMNAT1 was added gene: NMNAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NKX2-1 |
Zornitza Stark gene: NKX2-1 was added gene: NKX2-1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA; CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NGLY1 |
Zornitza Stark gene: NGLY1 was added gene: NGLY1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NFU1 |
Zornitza Stark gene: NFU1 was added gene: NFU1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NDUFV1 |
Zornitza Stark gene: NDUFV1 was added gene: NDUFV1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NDUFS8 |
Zornitza Stark gene: NDUFS8 was added gene: NDUFS8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NDUFS7 |
Zornitza Stark gene: NDUFS7 was added gene: NDUFS7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NDUFS4 |
Zornitza Stark gene: NDUFS4 was added gene: NDUFS4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME; LEIGH SYNDROME DUP |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NDUFS1 |
Zornitza Stark gene: NDUFS1 was added gene: NDUFS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NDUFA1 |
Zornitza Stark gene: NDUFA1 was added gene: NDUFA1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NAGS |
Zornitza Stark gene: NAGS was added gene: NAGS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYT1L |
Zornitza Stark gene: MYT1L was added gene: MYT1L was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYT1L were set to MYT1L syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYO7A |
Zornitza Stark gene: MYO7A was added gene: MYO7A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYO5B |
Zornitza Stark gene: MYO5B was added gene: MYO5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYO5A |
Zornitza Stark gene: MYO5A was added gene: MYO5A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to GRISCELLI SYNDROME TYPE 3; ELEJALDE SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYBPC2 |
Zornitza Stark gene: MYBPC2 was added gene: MYBPC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC2 were set to 32732226 Phenotypes for gene: MYBPC2 were set to Hydrops; Hygroma; Fetal akinesia; Multiple pterygium |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MUT |
Zornitza Stark gene: MUT was added gene: MUT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MT-TP |
Zornitza Stark gene: MT-TP was added gene: MT-TP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL Phenotypes for gene: MT-TP were set to MERRF |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MTRR |
Zornitza Stark gene: MTRR was added gene: MTRR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MTR |
Zornitza Stark gene: MTR was added gene: MTR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MTHFR |
Zornitza Stark gene: MTHFR was added gene: MTHFR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MSH6 |
Zornitza Stark gene: MSH6 was added gene: MSH6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 276300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MSH2 |
Zornitza Stark gene: MSH2 was added gene: MSH2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome; Mismatch repair cancer syndrome 276300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MRE11 |
Zornitza Stark gene: MRE11 was added gene: MRE11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MPZ |
Zornitza Stark gene: MPZ was added gene: MPZ was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MPZ were set to Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 2I 607677; Charcot-Marie-Tooth disease, type 1B 118200; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, type 2J 607736; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Neuropathy, congenital hypomyelinating 605253 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MPV17 |
Zornitza Stark gene: MPV17 was added gene: MPV17 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MPI |
Zornitza Stark gene: MPI was added gene: MPI was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPI were set to MPI-CDG, MONDO:0011257; Congenital disorder of glycosylation, type Ib, OMIM:602579 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MMAA |
Zornitza Stark gene: MMAA was added gene: MMAA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MLH1 |
Zornitza Stark gene: MLH1 was added gene: MLH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome 276300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MICU1 |
Zornitza Stark gene: MICU1 was added gene: MICU1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MGAT2 |
Zornitza Stark gene: MGAT2 was added gene: MGAT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MFSD8 |
Zornitza Stark gene: MFSD8 was added gene: MFSD8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MECP2 |
Zornitza Stark gene: MECP2 was added gene: MECP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MECP2 were set to 30712880 Phenotypes for gene: MECP2 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13; MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE; CHROMOSOME XQ28 DUPLICATION SYNDROME; ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS; RETT SYNDROME (RTT)[ |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MCEE |
Zornitza Stark gene: MCEE was added gene: MCEE was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MCCC2 |
Zornitza Stark gene: MCCC2 was added gene: MCCC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MCCC1 |
Zornitza Stark gene: MCCC1 was added gene: MCCC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MC2R |
Zornitza Stark gene: MC2R was added gene: MC2R was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MAOA |
Zornitza Stark gene: MAOA was added gene: MAOA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAOA were set to BRUNNER SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MAN2B1 |
Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LTBP2 |
Zornitza Stark gene: LTBP2 was added gene: LTBP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA; PRIMARY CONGENITAL GLAUCOMA TYPE 3D |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LRPPRC |
Zornitza Stark gene: LRPPRC was added gene: LRPPRC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LMOD1 |
Zornitza Stark gene: LMOD1 was added gene: LMOD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMOD1 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LEMD3 |
Zornitza Stark gene: LEMD3 was added gene: LEMD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME; MELORHEOSTOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LDB3 |
Zornitza Stark gene: LDB3 was added gene: LDB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LDB3 were set to 17394203 Phenotypes for gene: LDB3 were set to MYOPATHY MYOFIBRILLAR TYPE 4; LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LAMP2 |
Zornitza Stark gene: LAMP2 was added gene: LAMP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: LAMP2 were set to DANON DISEASE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LAMC2 |
Zornitza Stark gene: LAMC2 was added gene: LAMC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional 226650; Epidermolysis bullosa, junctional 226700 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LAMB3 |
Zornitza Stark gene: LAMB3 was added gene: LAMB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional 226650; Epidermolysis bullosa, junctional 226700 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LAMA3 |
Zornitza Stark gene: LAMA3 was added gene: LAMA3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional 226700 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KMT5B |
Zornitza Stark gene: KMT5B was added gene: KMT5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT5B were set to KMT5B syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KMT2E |
Zornitza Stark gene: KMT2E was added gene: KMT2E was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KIT |
Zornitza Stark gene: KIT was added gene: KIT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIT were set to HUMAN PIEBALDISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KISS1R |
Zornitza Stark gene: KISS1R was added gene: KISS1R was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia 614837 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCTD7 |
Zornitza Stark gene: KCTD7 was added gene: KCTD7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3; NEURONAL CEROID LIPOFUSCINOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNT1 |
Zornitza Stark gene: KCNT1 was added gene: KCNT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNT1 were set to SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNQ3 |
Zornitza Stark gene: KCNQ3 was added gene: KCNQ3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ3 were set to KCNQ3 syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNQ2 |
Zornitza Stark gene: KCNQ2 was added gene: KCNQ2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNQ2 were set to 30712880 Phenotypes for gene: KCNQ2 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7; BENIGN NEONATAL EPILEPSY TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNQ1 |
Zornitza Stark gene: KCNQ1 was added gene: KCNQ1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNJ11 |
Zornitza Stark gene: KCNJ11 was added gene: KCNJ11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM; DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNJ10 |
Zornitza Stark gene: KCNJ10 was added gene: KCNJ10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNE1 |
Zornitza Stark gene: KCNE1 was added gene: KCNE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNC1 |
Zornitza Stark gene: KCNC1 was added gene: KCNC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNB1 |
Zornitza Stark gene: KCNB1 was added gene: KCNB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNA2 |
Zornitza Stark gene: KCNA2 was added gene: KCNA2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KBTBD13 |
Zornitza Stark gene: KBTBD13 was added gene: KBTBD13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KARS |
Zornitza Stark gene: KARS was added gene: KARS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KARS were set to DEAFNESS, AUTOSOMAL RECESSIVE 89; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | JAK3 |
Zornitza Stark gene: JAK3 was added gene: JAK3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | JAGN1 |
Zornitza Stark gene: JAGN1 was added gene: JAGN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | IVD |
Zornitza Stark gene: IVD was added gene: IVD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ITPR1 |
Zornitza Stark gene: ITPR1 was added gene: ITPR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome; SPINOCEREBELLAR ATAXIA TYPE15 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ITGA7 |
Zornitza Stark gene: ITGA7 was added gene: ITGA7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA7 were set to 9590299 Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | IQSEC2 |
Zornitza Stark gene: IQSEC2 was added gene: IQSEC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | IL17RD |
Zornitza Stark gene: IL17RD was added gene: IL17RD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: IL17RD was set to Unknown Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | IGSF1 |
Zornitza Stark gene: IGSF1 was added gene: IGSF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HYDIN |
Zornitza Stark gene: HYDIN was added gene: HYDIN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYDIN were set to 30712880 Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HYAL1 |
Zornitza Stark gene: HYAL1 was added gene: HYAL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HSD3B7 |
Zornitza Stark gene: HSD3B7 was added gene: HSD3B7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HSD17B10 |
Zornitza Stark gene: HSD17B10 was added gene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY; MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HPS1 |
Zornitza Stark gene: HPS1 was added gene: HPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HPRT1 |
Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to LESCH-NYHAN SYNDROME; GOUT HPRT-RELATED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HPGD |
Zornitza Stark gene: HPGD was added gene: HPGD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HOXC13 |
Zornitza Stark gene: HOXC13 was added gene: HOXC13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HNRNPU |
Zornitza Stark gene: HNRNPU was added gene: HNRNPU was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNRNPU were set to EPILEPTIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HMGCS2 |
Zornitza Stark gene: HMGCS2 was added gene: HMGCS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HMGCL |
Zornitza Stark gene: HMGCL was added gene: HMGCL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HLCS |
Zornitza Stark gene: HLCS was added gene: HLCS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HINT1 |
Zornitza Stark gene: HINT1 was added gene: HINT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HINT1 were set to NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HEXB |
Zornitza Stark gene: HEXB was added gene: HEXB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HEXA |
Zornitza Stark gene: HEXA was added gene: HEXA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to 23035047 Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HECW2 |
Zornitza Stark gene: HECW2 was added gene: HECW2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HECW2 were set to HECW2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HDAC4 |
Zornitza Stark gene: HDAC4 was added gene: HDAC4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HCN1 |
Zornitza Stark gene: HCN1 was added gene: HCN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HAX1 |
Zornitza Stark gene: HAX1 was added gene: HAX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAX1 were set to NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HADH |
Zornitza Stark gene: HADH was added gene: HADH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HACE1 |
Zornitza Stark gene: HACE1 was added gene: HACE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HACE1 were set to HACE1 related disorder |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | H3F3A |
Zornitza Stark gene: H3F3A was added gene: H3F3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | H19 |
Zornitza Stark gene: H19 was added gene: H19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H19 were set to Beckwith-Wiedemann syndrome 130650; Silver-Russell syndrome 180860; Wilms tumor 2 194071 Mode of pathogenicity for gene: H19 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GRM6 |
Zornitza Stark gene: GRM6 was added gene: GRM6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GRIN2A |
Zornitza Stark gene: GRIN2A was added gene: GRIN2A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; LANDAU-KLEFFNER SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GRIK2 |
Zornitza Stark gene: GRIK2 was added gene: GRIK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GRIA3 |
Zornitza Stark gene: GRIA3 was added gene: GRIA3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GMPPA |
Zornitza Stark gene: GMPPA was added gene: GMPPA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GLUD1 |
Zornitza Stark gene: GLUD1 was added gene: GLUD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GLMN |
Zornitza Stark gene: GLMN was added gene: GLMN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLMN were set to GLOMUVENOUS MALFORMATIONS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GK |
Zornitza Stark gene: GK was added gene: GK was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GK were set to 8651297 Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GJB2 |
Zornitza Stark gene: GJB2 was added gene: GJB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJB2 were set to 24346921; 23035047 Phenotypes for gene: GJB2 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A; BART-PUMPHREY SYNDROME; VOHWINKEL SYNDROME; ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME; PALMOPLANTAR KERATODERMA WITH DEAFNESS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GHR |
Zornitza Stark gene: GHR was added gene: GHR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to PITUITARY DWARFISM II |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GDI1 |
Zornitza Stark gene: GDI1 was added gene: GDI1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41; MENTAL RETARDATION X-LINKED TYPE 48 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GDF2 |
Zornitza Stark gene: GDF2 was added gene: GDF2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF2 were set to 32618121 Phenotypes for gene: GDF2 were set to hydrops; hydrothorax; Lymphatic dysplasia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GCH1 |
Zornitza Stark gene: GCH1 was added gene: GCH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to DYSTONIA TYPE 5; GTP CYCLOHYDROLASE 1 DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GATM |
Zornitza Stark gene: GATM was added gene: GATM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GATAD2B |
Zornitza Stark gene: GATAD2B was added gene: GATAD2B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GAS8 |
Zornitza Stark gene: GAS8 was added gene: GAS8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS8 were set to 30166424 Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GAMT |
Zornitza Stark gene: GAMT was added gene: GAMT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GALT |
Zornitza Stark gene: GALT was added gene: GALT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to GALACTOSEMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GABRB3 |
Zornitza Stark gene: GABRB3 was added gene: GABRB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5; EPILEPTIC ENCEPHALOPATHIES |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FZD6 |
Zornitza Stark gene: FZD6 was added gene: FZD6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FUZ |
Zornitza Stark gene: FUZ was added gene: FUZ was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FUZ was set to Unknown Phenotypes for gene: FUZ were set to Neural tube defects 182940 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FTSJ1 |
Zornitza Stark gene: FTSJ1 was added gene: FTSJ1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FTCD |
Zornitza Stark gene: FTCD was added gene: FTCD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FTCD were set to GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FRMD7 |
Zornitza Stark gene: FRMD7 was added gene: FRMD7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FOXP1 |
Zornitza Stark gene: FOXP1 was added gene: FOXP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FOXN1 |
Zornitza Stark gene: FOXN1 was added gene: FOXN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXN1 were set to ALOPECIA AND T-CELL IMMUNODEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FMR1 |
Zornitza Stark gene: FMR1 was added gene: FMR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME; FRAGILE X SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FLVCR1 |
Zornitza Stark gene: FLVCR1 was added gene: FLVCR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FLRT3 |
Zornitza Stark gene: FLRT3 was added gene: FLRT3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FLRT3 was set to Unknown Phenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia 615271 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FLAD1 |
Zornitza Stark gene: FLAD1 was added gene: FLAD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FGF20 |
Zornitza Stark gene: FGF20 was added gene: FGF20 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF20 were set to 22698282; 23112089 Phenotypes for gene: FGF20 were set to ?Renal hypodysplasia/aplasia 2, 615721 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FGF17 |
Zornitza Stark gene: FGF17 was added gene: FGF17 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FGF17 was set to Unknown Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FGF12 |
Zornitza Stark gene: FGF12 was added gene: FGF12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FGD4 |
Zornitza Stark gene: FGD4 was added gene: FGD4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease 609311 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FBXO11 |
Zornitza Stark gene: FBXO11 was added gene: FBXO11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 30057029 Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FBP1 |
Zornitza Stark gene: FBP1 was added gene: FBP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FARS2 |
Zornitza Stark gene: FARS2 was added gene: FARS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FARS2 was set to Publications for gene: FARS2 were set to 28043061; 29326872; 27549011; 29126765; 27095821 Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FAM161A |
Zornitza Stark gene: FAM161A was added gene: FAM161A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM161A were set to RETINITIS PIGMENTOSA 28 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ETHE1 |
Zornitza Stark gene: ETHE1 was added gene: ETHE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to ETHYLMALONIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ERCC6L2 |
Zornitza Stark gene: ERCC6L2 was added gene: ERCC6L2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EPHX1 |
Zornitza Stark gene: EPHX1 was added gene: EPHX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: EPHX1 was set to Unknown Phenotypes for gene: EPHX1 were set to Diphenylhydantoin toxicity; Hypercholanemia, familial; ?Fetal hydantoin syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ENPP1 |
Zornitza Stark gene: ENPP1 was added gene: ENPP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EGR2 |
Zornitza Stark gene: EGR2 was added gene: EGR2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: EGR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EGR2 were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EDAR |
Zornitza Stark gene: EDAR was added gene: EDAR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: EDAR was set to Unknown Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DUSP6 |
Zornitza Stark gene: DUSP6 was added gene: DUSP6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DUSP6 was set to Unknown Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia 615269 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DSPP |
Zornitza Stark gene: DSPP was added gene: DSPP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSPP were set to DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II; DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DOCK8 |
Zornitza Stark gene: DOCK8 was added gene: DOCK8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK8 were set to HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNAH2 |
Zornitza Stark gene: DNAH2 was added gene: DNAH2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH2 were set to 32732226 Phenotypes for gene: DNAH2 were set to Hydrops; Complex cardiopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DMP1 |
Zornitza Stark gene: DMP1 was added gene: DMP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DLG3 |
Zornitza Stark gene: DLG3 was added gene: DLG3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DLD |
Zornitza Stark gene: DLD was added gene: DLD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to LEIGH SYNDROME; DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DLAT |
Zornitza Stark gene: DLAT was added gene: DLAT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DHH |
Zornitza Stark gene: DHH was added gene: DHH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 46XY sex reversal 7 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DEPDC5 |
Zornitza Stark gene: DEPDC5 was added gene: DEPDC5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DEAF1 |
Zornitza Stark gene: DEAF1 was added gene: DEAF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DEAF1 were set to Autism, intellectual disability, basal ganglia dysfunction and epilepsy; MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DDOST |
Zornitza Stark gene: DDOST was added gene: DDOST was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDOST were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DDHD2 |
Zornitza Stark gene: DDHD2 was added gene: DDHD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DDHD1 |
Zornitza Stark gene: DDHD1 was added gene: DDHD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DDC |
Zornitza Stark gene: DDC was added gene: DDC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DDB2 |
Zornitza Stark gene: DDB2 was added gene: DDB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDB2 were set to XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DBT |
Zornitza Stark gene: DBT was added gene: DBT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBT were set to MAPLE SYRUP URINE DISEASEQ |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DARS2 |
Zornitza Stark gene: DARS2 was added gene: DARS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CYP19A1 |
Zornitza Stark gene: CYP19A1 was added gene: CYP19A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CYP19A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CYP19A1 were set to Aromatase deficiency 613546; Aromatase excess syndrome 139300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CYC1 |
Zornitza Stark gene: CYC1 was added gene: CYC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CTNS |
Zornitza Stark gene: CTNS was added gene: CTNS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to CYSTINOSIS NEPHROPATHIC TYPE; CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CSTB |
Zornitza Stark gene: CSTB was added gene: CSTB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to UNVERRICHT-LUNDBORG DISEASE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CRX |
Zornitza Stark gene: CRX was added gene: CRX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRX were set to CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CRB1 |
Zornitza Stark gene: CRB1 was added gene: CRB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRB1 were set to RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE; LEBER CONGENITAL AMAUROSIS 8 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CPS1 |
Zornitza Stark gene: CPS1 was added gene: CPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COX6B1 |
Zornitza Stark gene: COX6B1 was added gene: COX6B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX6B1 were set to 24781756; 18499082 Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COX15 |
Zornitza Stark gene: COX15 was added gene: COX15 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX15 were set to LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COX10 |
Zornitza Stark gene: COX10 was added gene: COX10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COQ8A |
Zornitza Stark gene: COQ8A was added gene: COQ8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary 4, 612016 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COQ2 |
Zornitza Stark gene: COQ2 was added gene: COQ2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to COENZYME Q10 DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COMP |
Zornitza Stark gene: COMP was added gene: COMP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COMP were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1; ARE THE CAUSE OF PSEUDOACHONDROPLASIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL9A3 |
Zornitza Stark gene: COL9A3 was added gene: COL9A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL5A2 |
Zornitza Stark gene: COL5A2 was added gene: COL5A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type 130000 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL5A1 |
Zornitza Stark gene: COL5A1 was added gene: COL5A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type 130000 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL4A4 |
Zornitza Stark gene: COL4A4 was added gene: COL4A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL4A3 |
Zornitza Stark gene: COL4A3 was added gene: COL4A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL4A3 were set to ALPORT SYNDROME AUTOSOMAL DOMINANT; ALPORT SYNDROME AUTOSOMAL RECESSIVE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLN8 |
Zornitza Stark gene: CLN8 was added gene: CLN8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 8; NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLN6 |
Zornitza Stark gene: CLN6 was added gene: CLN6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET; CEROID LIPOFUSCINOSIS, NEURONAL, 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLN5 |
Zornitza Stark gene: CLN5 was added gene: CLN5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLN3 |
Zornitza Stark gene: CLN3 was added gene: CLN3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN3 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLDN19 |
Zornitza Stark gene: CLDN19 was added gene: CLDN19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CISD2 |
Zornitza Stark gene: CISD2 was added gene: CISD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CIB2 |
Zornitza Stark gene: CIB2 was added gene: CIB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIB2 were set to NONSYNDROMIC DEAFNESS DFNB48; USHER SYNDROME TYPE 1J |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHRNA4 |
Zornitza Stark gene: CHRNA4 was added gene: CHRNA4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHRDL1 |
Zornitza Stark gene: CHRDL1 was added gene: CHRDL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHD2 |
Zornitza Stark gene: CHD2 was added gene: CHD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CCNO |
Zornitza Stark gene: CCNO was added gene: CCNO was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCNO were set to 30166424 Phenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CCDC65 |
Zornitza Stark gene: CCDC65 was added gene: CCDC65 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC65 were set to 30166424 Phenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CCDC115 |
Zornitza Stark gene: CCDC115 was added gene: CCDC115 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CC2D1A |
Zornitza Stark gene: CC2D1A was added gene: CC2D1A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CBS |
Zornitza Stark gene: CBS was added gene: CBS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CAVIN1 |
Zornitza Stark gene: CAVIN1 was added gene: CAVIN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 613327 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CALCRL |
Zornitza Stark gene: CALCRL was added gene: CALCRL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CALCRL were set to 16537897; 30115739 Phenotypes for gene: CALCRL were set to Lymphatic malformation 8, MONDO:0032907; Lymphatic malformation 8, OMIM:618773; Hydrops fetalis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CAD |
Zornitza Stark gene: CAD was added gene: CAD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | C4orf26 |
Zornitza Stark gene: C4orf26 was added gene: C4orf26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C4orf26 were set to 22901946 Phenotypes for gene: C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | C2orf71 |
Zornitza Stark gene: C2orf71 was added gene: C2orf71 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BRWD3 |
Zornitza Stark gene: BRWD3 was added gene: BRWD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BRCA1 |
Zornitza Stark gene: BRCA1 was added gene: BRCA1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BCKDHB |
Zornitza Stark gene: BCKDHB was added gene: BCKDHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHB were set to MAPLE SYRUP URINE DISEASE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BCKDHA |
Zornitza Stark gene: BCKDHA was added gene: BCKDHA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AUTS2 |
Zornitza Stark gene: AUTS2 was added gene: AUTS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AUH |
Zornitza Stark gene: AUH was added gene: AUH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ATP8B1 |
Zornitza Stark gene: ATP8B1 was added gene: ATP8B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ATP6V1B1 |
Zornitza Stark gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ATP1A3 |
Zornitza Stark gene: ATP1A3 was added gene: ATP1A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ATP13A2 |
Zornitza Stark gene: ATP13A2 was added gene: ATP13A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ATM |
Zornitza Stark gene: ATM was added gene: ATM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ASL |
Zornitza Stark gene: ASL was added gene: ASL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ARG1 |
Zornitza Stark gene: ARG1 was added gene: ARG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARG1 were set to ARGININEMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | APTX |
Zornitza Stark gene: APTX was added gene: APTX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | APOPT1 |
Zornitza Stark gene: APOPT1 was added gene: APOPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AP3B1 |
Zornitza Stark gene: AP3B1 was added gene: AP3B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ANO5 |
Zornitza Stark gene: ANO5 was added gene: ANO5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ANO5 were set to GNATHODIAPHYSEAL DYSPLASIA; MIYOSHI MUSCULAR DYSTROPHY TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALS2 |
Zornitza Stark gene: ALS2 was added gene: ALS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALDOB |
Zornitza Stark gene: ALDOB was added gene: ALDOB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALDH5A1 |
Zornitza Stark gene: ALDH5A1 was added gene: ALDH5A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALDH4A1 |
Zornitza Stark gene: ALDH4A1 was added gene: ALDH4A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALAD |
Zornitza Stark gene: ALAD was added gene: ALAD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AKR1D1 |
Zornitza Stark gene: AKR1D1 was added gene: AKR1D1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AK2 |
Zornitza Stark gene: AK2 was added gene: AK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AIRE |
Zornitza Stark gene: AIRE was added gene: AIRE was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AIPL1 |
Zornitza Stark gene: AIPL1 was added gene: AIPL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AGXT |
Zornitza Stark gene: AGXT was added gene: AGXT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AGRN |
Zornitza Stark gene: AGRN was added gene: AGRN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGRN were set to 31730230 Phenotypes for gene: AGRN were set to Fetal akinesia deformation sequence (FADS) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AGPAT2 |
Zornitza Stark gene: AGPAT2 was added gene: AGPAT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPAT2 were set to 22902344 Phenotypes for gene: AGPAT2 were set to Lipodystrophy 608594 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AGA |
Zornitza Stark gene: AGA was added gene: AGA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AFF2 |
Zornitza Stark gene: AFF2 was added gene: AFF2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ADA |
Zornitza Stark gene: ADA was added gene: ADA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ACVRL1 |
Zornitza Stark gene: ACVRL1 was added gene: ACVRL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ACAT1 |
Zornitza Stark gene: ACAT1 was added gene: ACAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ACADS |
Zornitza Stark gene: ACADS was added gene: ACADS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ACADM |
Zornitza Stark gene: ACADM was added gene: ACADM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ABCD1 |
Zornitza Stark gene: ABCD1 was added gene: ABCD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ABCC8 |
Zornitza Stark gene: ABCC8 was added gene: ABCC8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial 256450 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ABCB7 |
Zornitza Stark gene: ABCB7 was added gene: ABCB7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ABCB11 |
Zornitza Stark gene: ABCB11 was added gene: ABCB11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZSWIM6 |
Zornitza Stark gene: ZSWIM6 was added gene: ZSWIM6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZNF750 |
Zornitza Stark gene: ZNF750 was added gene: ZNF750 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZNF462 |
Zornitza Stark gene: ZNF462 was added gene: ZNF462 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZNF423 |
Zornitza Stark gene: ZNF423 was added gene: ZNF423 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ZNF423 were set to 22863007 Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 614844; Nephronophthisis 14 614844 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZMYND11 |
Zornitza Stark gene: ZMYND11 was added gene: ZMYND11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZMYND10 |
Zornitza Stark gene: ZMYND10 was added gene: ZMYND10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | YWHAG |
Zornitza Stark gene: YWHAG was added gene: YWHAG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | YAP1 |
Zornitza Stark gene: YAP1 was added gene: YAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | XYLT2 |
Zornitza Stark gene: XYLT2 was added gene: XYLT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WWOX |
Zornitza Stark gene: WWOX was added gene: WWOX was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WNT4 |
Zornitza Stark gene: WNT4 was added gene: WNT4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: WNT4 were set to MULLERIAN APLASIA AND HYPERANDROGENISM; SERKAL SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WNT3 |
Zornitza Stark gene: WNT3 was added gene: WNT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT3 were set to 18837045; 16283889; 14872406 Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR81 |
Zornitza Stark gene: WDR81 was added gene: WDR81 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR81 were set to 28556411 Phenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794; Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR73 |
Zornitza Stark gene: WDR73 was added gene: WDR73 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1, 251300; GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WBP11 |
Zornitza Stark gene: WBP11 was added gene: WBP11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WBP11 were set to 33276377 Phenotypes for gene: WBP11 were set to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VRK1 |
Zornitza Stark gene: VRK1 was added gene: VRK1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VEGFC |
Zornitza Stark gene: VEGFC was added gene: VEGFC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VEGFC were set to Lymphatic malformation 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VDR |
Zornitza Stark gene: VDR was added gene: VDR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VAMP1 |
Zornitza Stark gene: VAMP1 was added gene: VAMP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAMP1 were set to 28600779; 28168212; 28253535 Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | USP9X |
Zornitza Stark gene: USP9X was added gene: USP9X was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | USP27X |
Zornitza Stark gene: USP27X was added gene: USP27X was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | USP18 |
Zornitza Stark gene: USP18 was added gene: USP18 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP18 were set to 27325888; 12833411; 31940699 Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, 617397 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UQCRQ |
Zornitza Stark gene: UQCRQ was added gene: UQCRQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UQCRB |
Zornitza Stark gene: UQCRB was added gene: UQCRB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UBTF |
Zornitza Stark gene: UBTF was added gene: UBTF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UBE2T |
Zornitza Stark gene: UBE2T was added gene: UBE2T was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE2T were set to 26046368 Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TXNDC15 |
Zornitza Stark gene: TXNDC15 was added gene: TXNDC15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNDC15 were set to 27894351 Phenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TUFM |
Zornitza Stark gene: TUFM was added gene: TUFM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TUBGCP4 |
Zornitza Stark gene: TUBGCP4 was added gene: TUBGCP4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP4 were set to 25817018 Phenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TUBG1 |
Zornitza Stark gene: TUBG1 was added gene: TUBG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBG1 were set to 27010057; 23603762 Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TUBB3 |
Zornitza Stark gene: TUBB3 was added gene: TUBB3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB3 were set to 32573066 Phenotypes for gene: TUBB3 were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TTI2 |
Zornitza Stark gene: TTI2 was added gene: TTI2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TTC25 |
Zornitza Stark gene: TTC25 was added gene: TTC25 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TSFM |
Zornitza Stark gene: TSFM was added gene: TSFM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 31267352 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TSEN34 |
Zornitza Stark gene: TSEN34 was added gene: TSEN34 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TSEN2 |
Zornitza Stark gene: TSEN2 was added gene: TSEN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TSEN15 |
Zornitza Stark gene: TSEN15 was added gene: TSEN15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRPV3 |
Zornitza Stark gene: TRPV3 was added gene: TRPV3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRPM7 |
Zornitza Stark gene: TRPM7 was added gene: TRPM7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM7 were set to 32503408; 31423533 Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRMT10C |
Zornitza Stark gene: TRMT10C was added gene: TRMT10C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRMT10A |
Zornitza Stark gene: TRMT10A was added gene: TRMT10A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRIP13 |
Zornitza Stark gene: TRIP13 was added gene: TRIP13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRIO |
Zornitza Stark gene: TRIO was added gene: TRIO was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRIM32 |
Zornitza Stark gene: TRIM32 was added gene: TRIM32 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM32 were set to 30823891; 16606853 Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRAPPC12 |
Zornitza Stark gene: TRAPPC12 was added gene: TRAPPC12 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC12 were set to 28777934; 32347653 Phenotypes for gene: TRAPPC12 were set to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRAPPC11 |
Zornitza Stark gene: TRAPPC11 was added gene: TRAPPC11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRAP1 |
Zornitza Stark gene: TRAP1 was added gene: TRAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAP1 were set to 24152966 Phenotypes for gene: TRAP1 were set to VACTERL; CAKUT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRAIP |
Zornitza Stark gene: TRAIP was added gene: TRAIP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAIP were set to 26595769 Phenotypes for gene: TRAIP were set to Seckel syndrome 9 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TRAF3IP1 |
Zornitza Stark gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TOR1A |
Zornitza Stark gene: TOR1A was added gene: TOR1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1A were set to 30244176; 28516161; 29053766 Phenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TOE1 |
Zornitza Stark gene: TOE1 was added gene: TOE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, OMIM:614969; Pontocerebellar hypoplasia type 7, MONDO:0013993 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TNNT3 |
Zornitza Stark gene: TNNT3 was added gene: TNNT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNNT3 were set to 25337069; 32779773; 21402185; 17194691; 19142688 Phenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750 Mode of pathogenicity for gene: TNNT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TNFRSF13B |
Zornitza Stark gene: TNFRSF13B was added gene: TNFRSF13B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMX2 |
Zornitza Stark gene: TMX2 was added gene: TMX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMX2 were set to 31586943; 31735293; 31270415 Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMTC3 |
Zornitza Stark gene: TMTC3 was added gene: TMTC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMEM98 |
Zornitza Stark gene: TMEM98 was added gene: TMEM98 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM98 were set to 24852644; 26392740 Phenotypes for gene: TMEM98 were set to Nanophthalmos 4, MONDO:0014426; Nanophthalmos 4, OMIM:615972 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMEM38B |
Zornitza Stark gene: TMEM38B was added gene: TMEM38B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM38B were set to 23054245; 23316006 Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMEM260 |
Zornitza Stark gene: TMEM260 was added gene: TMEM260 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM260 were set to 34612517; 28318500 Phenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, OMIM:617478; Structural heart defects and renal anomalies syndrome, MONDO:0044321 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMEM216 |
Zornitza Stark gene: TMEM216 was added gene: TMEM216 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 20512146; 20036350 Phenotypes for gene: TMEM216 were set to Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TMEM107 |
Zornitza Stark gene: TMEM107 was added gene: TMEM107 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to 26595381; 26123494; 26518474; 23523602 Phenotypes for gene: TMEM107 were set to Joubert syndrome 29, OMIM:617562; Orofaciodigital syndrome 16, MONDO:0033045; Meckel syndrome 13, MONDO:0033044; Orofaciodigital syndrome XVI, OMIM:617563; Meckel syndrome 13, OMIM:617562 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TKT |
Zornitza Stark gene: TKT was added gene: TKT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | THOC2 |
Zornitza Stark gene: THOC2 was added gene: THOC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TENM3 |
Zornitza Stark gene: TENM3 was added gene: TENM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TENM3 were set to 22766609; 27103084; 30513139; 29753094 Phenotypes for gene: TENM3 were set to Microphthalmia, isolated, with coloboma 9, MONDO:0014059; Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TELO2 |
Zornitza Stark gene: TELO2 was added gene: TELO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TELO2 were set to TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848; You-Hoover-Fong syndrome, OMIM:616954 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TECPR2 |
Zornitza Stark gene: TECPR2 was added gene: TECPR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TCTEX1D2 |
Zornitza Stark gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTEX1D2 were set to 28475963; 26044572; 25830415 Phenotypes for gene: TCTEX1D2 were set to Jeune asphyxiating thoracic dystrophy; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TCF20 |
Zornitza Stark gene: TCF20 was added gene: TCF20 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TCF20 were set to TCF20 syndrome; Developmental delay with variable intellectual impairment and behavioral abnormalities 618430 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TBX22 |
Zornitza Stark gene: TBX22 was added gene: TBX22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TBX22 were set to 22784330 Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TBR1 |
Zornitza Stark gene: TBR1 was added gene: TBR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBR1 were set to AUTISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TBC1D32 |
Zornitza Stark gene: TBC1D32 was added gene: TBC1D32 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 32573025; 32060556; 31130284 Phenotypes for gene: TBC1D32 were set to OFD IX |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TAF13 |
Zornitza Stark gene: TAF13 was added gene: TAF13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TACR3 |
Zornitza Stark gene: TACR3 was added gene: TACR3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TACO1 |
Zornitza Stark gene: TACO1 was added gene: TACO1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TAC3 |
Zornitza Stark gene: TAC3 was added gene: TAC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SZT2 |
Zornitza Stark gene: SZT2 was added gene: SZT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SYNE1 |
Zornitza Stark gene: SYNE1 was added gene: SYNE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 27782104; 19542096; 24319099 Phenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SYN1 |
Zornitza Stark gene: SYN1 was added gene: SYN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SULT2B1 |
Zornitza Stark gene: SULT2B1 was added gene: SULT2B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SULT2B1 were set to 28575648 Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SUFU |
Zornitza Stark gene: SUFU was added gene: SUFU was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SUFU were set to 21289193; 33024317; 28965847 Phenotypes for gene: SUFU were set to Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | STX1B |
Zornitza Stark gene: STX1B was added gene: STX1B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | STRADA |
Zornitza Stark gene: STRADA was added gene: STRADA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | STIL |
Zornitza Stark gene: STIL was added gene: STIL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIL were set to 29230157 Phenotypes for gene: STIL were set to Microcephaly 7, primary, autosomal recessive, MONDO:0012989; Microcephaly 7, primary, autosomal recessive, OMIM:612703 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | STAT5B |
Zornitza Stark gene: STAT5B was added gene: STAT5B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | STAC3 |
Zornitza Stark gene: STAC3 was added gene: STAC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 30168660 Phenotypes for gene: STAC3 were set to Bailey-Bloch congenital myopathy, MONDO:0009722; Myopathy, congenital, Baily-Bloch, OMIM:255995 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ST3GAL5 |
Zornitza Stark gene: ST3GAL5 was added gene: ST3GAL5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ST3GAL3 |
Zornitza Stark gene: ST3GAL3 was added gene: ST3GAL3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ST14 |
Zornitza Stark gene: ST14 was added gene: ST14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, OMIM:602400; Autosomal recessive congenital ichthyosis 11, MONDO:0011218 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SRP54 |
Zornitza Stark gene: SRP54 was added gene: SRP54 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SPTAN1 |
Zornitza Stark gene: SPTAN1 was added gene: SPTAN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SPECC1L |
Zornitza Stark gene: SPECC1L was added gene: SPECC1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPECC1L were set to ?Facial clefting, oblique, 1, OMIM:600251; Hypertelorism, Teebi type, MONDO:0007780; Opitz GBBB syndrome, type II, OMIM:145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779; Tessier number 4 facial cleft, MONDO:0010850; Hypertelorism, Teebi type, OMIM:145420 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SPARC |
Zornitza Stark gene: SPARC was added gene: SPARC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, OMIM:616507; Osteogenesis imperfecta type 17, MONDO:0014672 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SP7 |
Zornitza Stark gene: SP7 was added gene: SP7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP7 were set to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SOX6 |
Zornitza Stark gene: SOX6 was added gene: SOX6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome, MONDO:0033544; Tolchin-Le Caignec syndrome, OMIM:618971 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SOX5 |
Zornitza Stark gene: SOX5 was added gene: SOX5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SOX18 |
Zornitza Stark gene: SOX18 was added gene: SOX18 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073; Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SOX11 |
Zornitza Stark gene: SOX11 was added gene: SOX11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SNX10 |
Zornitza Stark gene: SNX10 was added gene: SNX10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8, OMIM:615085; Autosomal recessive osteopetrosis 8, MONDO:0014040 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SNRPE |
Zornitza Stark gene: SNRPE was added gene: SNRPE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SNAP29 |
Zornitza Stark gene: SNAP29 was added gene: SNAP29 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to 28388629; 21073448; 15968592 Phenotypes for gene: SNAP29 were set to CEDNIK syndrome, MONDO:0012290; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SNAP25 |
Zornitza Stark gene: SNAP25 was added gene: SNAP25 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SMS |
Zornitza Stark gene: SMS was added gene: SMS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SMPD4 |
Zornitza Stark gene: SMPD4 was added gene: SMPD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to 31495489 Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838; Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SMOC2 |
Zornitza Stark gene: SMOC2 was added gene: SMOC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SMG9 |
Zornitza Stark gene: SMG9 was added gene: SMG9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG9 were set to 31390136; 27018474 Phenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, 616920; SMG9 Multiple Congenital Anomaly Syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SMARCE1 |
Zornitza Stark gene: SMARCE1 was added gene: SMARCE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SMARCC1 |
Zornitza Stark gene: SMARCC1 was added gene: SMARCC1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCC1 were set to 29983323; 32732226; 24170322; 33077954 Phenotypes for gene: SMARCC1 were set to Corpus callosum abnormalities; Aqueductal stenosis; Septal agenesis; Congenital hydrocephalus |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC6A9 |
Zornitza Stark gene: SLC6A9 was added gene: SLC6A9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC6A17 |
Zornitza Stark gene: SLC6A17 was added gene: SLC6A17 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC5A7 |
Zornitza Stark gene: SLC5A7 was added gene: SLC5A7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A7 were set to 27569547; 31299140 Phenotypes for gene: SLC5A7 were set to Congenital myasthenic syndrome 20, MONDO:0014939; Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC45A1 |
Zornitza Stark gene: SLC45A1 was added gene: SLC45A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC35A1 |
Zornitza Stark gene: SLC35A1 was added gene: SLC35A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC29A3 |
Zornitza Stark gene: SLC29A3 was added gene: SLC29A3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to H syndrome, MONDO:0011273; Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC25A4 |
Zornitza Stark gene: SLC25A4 was added gene: SLC25A4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC25A22 |
Zornitza Stark gene: SLC25A22 was added gene: SLC25A22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC25A19 |
Zornitza Stark gene: SLC25A19 was added gene: SLC25A19 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, OMIM:607196; Amish lethal microcephaly, MONDO:0011790 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC24A4 |
Zornitza Stark gene: SLC24A4 was added gene: SLC24A4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC20A1 |
Zornitza Stark gene: SLC20A1 was added gene: SLC20A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC20A1 were set to 32850778; 27013921 Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC1A2 |
Zornitza Stark gene: SLC1A2 was added gene: SLC1A2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SLC18A3 |
Zornitza Stark gene: SLC18A3 was added gene: SLC18A3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to 31059209 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; Congenital myasthenic syndrome 21, MONDO:0014983 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SIX6 |
Zornitza Stark gene: SIX6 was added gene: SIX6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550; Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SIN3A |
Zornitza Stark gene: SIN3A was added gene: SIN3A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SHROOM3 |
Zornitza Stark gene: SHROOM3 was added gene: SHROOM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SHANK3 |
Zornitza Stark gene: SHANK3 was added gene: SHANK3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MONDO:0011652; Phelan-McDermid syndrome, OMIM:606232 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SHANK2 |
Zornitza Stark gene: SHANK2 was added gene: SHANK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SHANK1 |
Zornitza Stark gene: SHANK1 was added gene: SHANK1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK1 were set to AUTISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SGSH |
Zornitza Stark gene: SGSH was added gene: SGSH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SGCG |
Zornitza Stark gene: SGCG was added gene: SGCG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCG were set to Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677; Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SETD2 |
Zornitza Stark gene: SETD2 was added gene: SETD2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SETD1A |
Zornitza Stark gene: SETD1A was added gene: SETD1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SET |
Zornitza Stark gene: SET was added gene: SET was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SET were set to SET syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SERPINH1 |
Zornitza Stark gene: SERPINH1 was added gene: SERPINH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta type 10, MONDO:0013459; Osteogenesis imperfecta, type X, OMIM:613848 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SERPINF1 |
Zornitza Stark gene: SERPINF1 was added gene: SERPINF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, OMIM:613982; Osteogenesis imperfecta type 6, MONDO:0013515 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SECISBP2 |
Zornitza Stark gene: SECISBP2 was added gene: SECISBP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SEC24D |
Zornitza Stark gene: SEC24D was added gene: SEC24D was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SDR9C7 |
Zornitza Stark gene: SDR9C7 was added gene: SDR9C7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCYL1 |
Zornitza Stark gene: SCYL1 was added gene: SCYL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCUBE3 |
Zornitza Stark gene: SCUBE3 was added gene: SCUBE3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCN3A |
Zornitza Stark gene: SCN3A was added gene: SCN3A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN3A were set to Focal epilepsy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCLT1 |
Zornitza Stark gene: SCLT1 was added gene: SCLT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 28486600; 30425282; 23348840; 24285566; 28005958 Phenotypes for gene: SCLT1 were set to Senior-L ken Syndrome; No OMIM phenotype; Oro-facio-digital syndrome type IX |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SASS6 |
Zornitza Stark gene: SASS6 was added gene: SASS6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASS6 were set to 24951542 Phenotypes for gene: SASS6 were set to ?Microcephaly 14, primary, autosomal recessive 616402 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SACS |
Zornitza Stark gene: SACS was added gene: SACS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RSPRY1 |
Zornitza Stark gene: RSPRY1 was added gene: RSPRY1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RSPH9 |
Zornitza Stark gene: RSPH9 was added gene: RSPH9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary 612650 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RSPH4A |
Zornitza Stark gene: RSPH4A was added gene: RSPH4A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary 612649 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RRAS2 |
Zornitza Stark gene: RRAS2 was added gene: RRAS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RRAS2 were set to Noonan syndrome 12, MONDO:0032839; Noonan syndrome 12, OMIM:618624 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RRAS |
Zornitza Stark gene: RRAS was added gene: RRAS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RPS7 |
Zornitza Stark gene: RPS7 was added gene: RPS7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, MONDO:0012939; Diamond-Blackfan anemia 8, OMIM:612563 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RPS24 |
Zornitza Stark gene: RPS24 was added gene: RPS24 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, OMIM:610629; Diamond-Blackfan anemia 3, MONDO:0012529 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RPS23 |
Zornitza Stark gene: RPS23 was added gene: RPS23 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RPL35A |
Zornitza Stark gene: RPL35A was added gene: RPL35A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, OMIM:612528; Diamond-Blackfan anemia 5, MONDO:0012925 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RPL10 |
Zornitza Stark gene: RPL10 was added gene: RPL10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPL10 were set to Intellectual disability, X-linked, syndromic, 35, MONDO:0030908; Mental retardation, X-linked, syndromic, 35, OMIM:300998 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RORA |
Zornitza Stark gene: RORA was added gene: RORA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RORA were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ROBO3 |
Zornitza Stark gene: ROBO3 was added gene: ROBO3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790; Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RMND1 |
Zornitza Stark gene: RMND1 was added gene: RMND1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RLIM |
Zornitza Stark gene: RLIM was added gene: RLIM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RIN2 |
Zornitza Stark gene: RIN2 was added gene: RIN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RFT1 |
Zornitza Stark gene: RFT1 was added gene: RFT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, OMIM:612015; RFT1-CDG, MONDO:0012783 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RBM10 |
Zornitza Stark gene: RBM10 was added gene: RBM10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RBM10 were set to Tarp syndrome, MONDO:0010711; TARP syndrome, OMIM:311900 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RBBP8 |
Zornitza Stark gene: RBBP8 was added gene: RBBP8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBBP8 were set to Seckel syndrome 2, MONDO:0011715; Seckel syndrome 2, OMIM:606744 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RAD51C |
Zornitza Stark gene: RAD51C was added gene: RAD51C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RAD51 |
Zornitza Stark gene: RAD51 was added gene: RAD51 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RAB33B |
Zornitza Stark gene: RAB33B was added gene: RAB33B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, OMIM:615222; Smith-McCort dysplasia 2, MONDO:0014087 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RAB11B |
Zornitza Stark gene: RAB11B was added gene: RAB11B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RAB11A |
Zornitza Stark gene: RAB11A was added gene: RAB11A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | QARS |
Zornitza Stark gene: QARS was added gene: QARS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PYROXD1 |
Zornitza Stark gene: PYROXD1 was added gene: PYROXD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PYGM |
Zornitza Stark gene: PYGM was added gene: PYGM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to Glycogen storage disease V, MONDO:0009293; McArdle disease, OMIM:232600 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PYCR2 |
Zornitza Stark gene: PYCR2 was added gene: PYCR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PXDN |
Zornitza Stark gene: PXDN was added gene: PXDN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PTPN14 |
Zornitza Stark gene: PTPN14 was added gene: PTPN14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTPN14 were set to Lymphedema-posterior choanal atresia syndrome, MONDO:0013324; Choanal atresia and lymphedema, OMIM:613611 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PTH |
Zornitza Stark gene: PTH was added gene: PTH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PSAT1 |
Zornitza Stark gene: PSAT1 was added gene: PSAT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 25152457; 31903955 Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MONDO:0014466; Neu-Laxova syndrome 2, OMIM:616038 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PRUNE1 |
Zornitza Stark gene: PRUNE1 was added gene: PRUNE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRUNE1 were set to 33105479; 28334956; 26539891 Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PRKAG2 |
Zornitza Stark gene: PRKAG2 was added gene: PRKAG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAG2 were set to Glycogen storage disease of heart, lethal congenital, OMIM:261740; Cardiomyopathy, hypertrophic 6, OMIM:600858; Lethal congenital glycogen storage disease of heart, MONDO:0009867; Hypertrophic cardiomyopathy 6, MONDO:0010946 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PREPL |
Zornitza Stark gene: PREPL was added gene: PREPL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PPP3CA |
Zornitza Stark gene: PPP3CA was added gene: PPP3CA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | POP1 |
Zornitza Stark gene: POP1 was added gene: POP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | POLR1A |
Zornitza Stark gene: POLR1A was added gene: POLR1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type, OMIM:616462; Acrofacial dysostosis Cincinnati type, MONDO:0014651 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | POLG2 |
Zornitza Stark gene: POLG2 was added gene: POLG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415; Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | POLE |
Zornitza Stark gene: POLE was added gene: POLE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 23230001; 25948378 Phenotypes for gene: POLE were set to severe growth failure of prenatal onset; IUGR; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PNPLA1 |
Zornitza Stark gene: PNPLA1 was added gene: PNPLA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to Autosomal recessive congenital ichthyosis 10, MONDO:0014011; Ichthyosis, congenital, autosomal recessive 10, OMIM:615024 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLPBP |
Zornitza Stark gene: PLPBP was added gene: PLPBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLG |
Zornitza Stark gene: PLG was added gene: PLG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLG were set to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLD1 |
Zornitza Stark gene: PLD1 was added gene: PLD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD1 were set to 27799408; 33645542 Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, OMIM:212093 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLCB4 |
Zornitza Stark gene: PLCB4 was added gene: PLCB4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLCB1 |
Zornitza Stark gene: PLCB1 was added gene: PLCB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLAG1 |
Zornitza Stark gene: PLAG1 was added gene: PLAG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4, OMIM:618907; Silver-russell syndrome 4, MONDO:0030118 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PLAA |
Zornitza Stark gene: PLAA was added gene: PLAA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PITX1 |
Zornitza Stark gene: PITX1 was added gene: PITX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX1 were set to Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PIK3C2A |
Zornitza Stark gene: PIK3C2A was added gene: PIK3C2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIK3C2A were set to Oculocerebrodental syndrome, MONDO:0034145; Oculoskeletodental syndrome, OMIM:618440 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PIH1D3 |
Zornitza Stark gene: PIH1D3 was added gene: PIH1D3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991; Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PIGY |
Zornitza Stark gene: PIGY was added gene: PIGY was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PIGN |
Zornitza Stark gene: PIGN was added gene: PIGN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563; Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PIGG |
Zornitza Stark gene: PIGG was added gene: PIGG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGG were set to Intellectual Disability with Seizures and Hypotonia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PIBF1 |
Zornitza Stark gene: PIBF1 was added gene: PIBF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIBF1 were set to Joubert syndrome 33, MONDO:0033311; Joubert syndrome 33, OMIM:617767 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PHF21A |
Zornitza Stark gene: PHF21A was added gene: PHF21A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PGM3 |
Zornitza Stark gene: PGM3 was added gene: PGM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM3 were set to 28543917; 24931394 Phenotypes for gene: PGM3 were set to PGM3-CDG, MONDO:0014353; Immunodeficiency 23, OMIM:615816 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PGAP1 |
Zornitza Stark gene: PGAP1 was added gene: PGAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PFKM |
Zornitza Stark gene: PFKM was added gene: PFKM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease VII, OMIM:232800; Glycogen storage disease VII, MONDO:0009295 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PET100 |
Zornitza Stark gene: PET100 was added gene: PET100 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PDSS1 |
Zornitza Stark gene: PDSS1 was added gene: PDSS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PDE6H |
Zornitza Stark gene: PDE6H was added gene: PDE6H was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6H were set to ACHROMATOPSIA; RETINAL CONE DYSTROPHY 3 PDE6H |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PDE10A |
Zornitza Stark gene: PDE10A was added gene: PDE10A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PBX1 |
Zornitza Stark gene: PBX1 was added gene: PBX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641; Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PAX7 |
Zornitza Stark gene: PAX7 was added gene: PAX7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX7 were set to Myopathy, congenital, progressive, with scoliosis, OMIM:618578; Myopathy, congenital, progressive, with scoliosis, MONDO:0032821 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PAICS |
Zornitza Stark gene: PAICS was added gene: PAICS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAICS were set to 31600779 Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities; early neonatal death |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PACS1 |
Zornitza Stark gene: PACS1 was added gene: PACS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS1 were set to 30712880 Phenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | P4HB |
Zornitza Stark gene: P4HB was added gene: P4HB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, OMIM:112240; Cole-Carpenter syndrome 1, MONDO:0007204 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | OTUD6B |
Zornitza Stark gene: OTUD6B was added gene: OTUD6B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTUD6B were set to Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | OTUD5 |
Zornitza Stark gene: OTUD5 was added gene: OTUD5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to 33523931; 33131077 Phenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | OSGEP |
Zornitza Stark gene: OSGEP was added gene: OSGEP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, OMIM:617729; Galloway-Mowat syndrome 3, MONDO:0033007 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NXN |
Zornitza Stark gene: NXN was added gene: NXN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2, OMIM:618529; Robinow syndrome, autosomal recessive 2, MONDO:0032800 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NUS1 |
Zornitza Stark gene: NUS1 was added gene: NUS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NUS1 were set to Epilepsy and intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NUP88 |
Zornitza Stark gene: NUP88 was added gene: NUP88 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP88 were set to 30543681 Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MONDO:0100104; Fetal akinesia deformation sequence 4, OMIM:618393 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NUP62 |
Zornitza Stark gene: NUP62 was added gene: NUP62 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NUAK2 |
Zornitza Stark gene: NUAK2 was added gene: NUAK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUAK2 were set to 22689267; 32845958 Phenotypes for gene: NUAK2 were set to Anencephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NTRK2 |
Zornitza Stark gene: NTRK2 was added gene: NTRK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NSUN2 |
Zornitza Stark gene: NSUN2 was added gene: NSUN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NRXN2 |
Zornitza Stark gene: NRXN2 was added gene: NRXN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NRXN2 were set to AUTISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NOVA2 |
Zornitza Stark gene: NOVA2 was added gene: NOVA2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NONO |
Zornitza Stark gene: NONO was added gene: NONO was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NONO were set to 32397791 Phenotypes for gene: NONO were set to Atresia; Ventricular septal defect (VSD); Pulmonary stenosis; Ebstein s anomaly; Left ventricular non-compaction cardiomyopathy (LVNC) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NMNAT2 |
Zornitza Stark gene: NMNAT2 was added gene: NMNAT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to 31132363; 23082226; 31136762 Phenotypes for gene: NMNAT2 were set to hydropic placenta; hydrocephalus; micrognathia; bilateral hypoplastic lungs; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; cleft palate; hydrops fetalis; flexion contractures of all extremities; cystic hygroma |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NKX6-2 |
Zornitza Stark gene: NKX6-2 was added gene: NKX6-2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX6-2 were set to Progressive Spastic Ataxia and Hypomyelination |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NIPAL4 |
Zornitza Stark gene: NIPAL4 was added gene: NIPAL4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Autosomal recessive congenital ichthyosis 6, MONDO:0012847; Ichthyosis, congenital, autosomal recessive 6, OMIM:612281 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NHP2 |
Zornitza Stark gene: NHP2 was added gene: NHP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NEXMIF |
Zornitza Stark gene: NEXMIF was added gene: NEXMIF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NEXMIF were set to Intellectual disability and epilepsy; KIAA2022 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NEK9 |
Zornitza Stark gene: NEK9 was added gene: NEK9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK9 were set to 26908619; 26633546; 32333414; 21271645 Phenotypes for gene: NEK9 were set to Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; NEK9-related lethal skeletal dysplasia, MONDO:0014870; Lethal congenital contracture syndrome 10, OMIM:617022; ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NEK8 |
Zornitza Stark gene: NEK8 was added gene: NEK8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 26697755; 18199800; 26967905; 26862157; 23418306 Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; ?Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NEDD4L |
Zornitza Stark gene: NEDD4L was added gene: NEDD4L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia 7, MONDO:0014966; Periventricular nodular heterotopia 7, OMIM:617201 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NECTIN1 |
Zornitza Stark gene: NECTIN1 was added gene: NECTIN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NECTIN1 were set to Orofacial cleft 7, OMIM:225060; Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NDUFB11 |
Zornitza Stark gene: NDUFB11 was added gene: NDUFB11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NDUFAF2 |
Zornitza Stark gene: NDUFAF2 was added gene: NDUFAF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NDUFA10 |
Zornitza Stark gene: NDUFA10 was added gene: NDUFA10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NAXE |
Zornitza Stark gene: NAXE was added gene: NAXE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NAGLU |
Zornitza Stark gene: NAGLU was added gene: NAGLU was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NADSYN1 |
Zornitza Stark gene: NADSYN1 was added gene: NADSYN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NAA15 |
Zornitza Stark gene: NAA15 was added gene: NAA15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYPN |
Zornitza Stark gene: MYPN was added gene: MYPN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, 617336 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYOD1 |
Zornitza Stark gene: MYOD1 was added gene: MYOD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYOD1 were set to 30403323; 26733463; 31260566 Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYOCD |
Zornitza Stark gene: MYOCD was added gene: MYOCD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYOCD were set to 31513549 Phenotypes for gene: MYOCD were set to Megabladder, congenital, OMIM:618719; Megabladder, congenital, MONDO:0032879 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYO9A |
Zornitza Stark gene: MYO9A was added gene: MYO9A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO9A were set to 27259756; 29462312; 26752647 Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYO18B |
Zornitza Stark gene: MYO18B was added gene: MYO18B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO18B were set to 27858739; 25748484; 27879346 Phenotypes for gene: MYO18B were set to Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689; Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYMK |
Zornitza Stark gene: MYMK was added gene: MYMK was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMK were set to 28681861 Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, MONDO:0009700; Carey-Fineman-Ziter syndrome, OMIM:254940 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYLK |
Zornitza Stark gene: MYLK was added gene: MYLK was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYLK were set to 28602422 Phenotypes for gene: MYLK were set to MMIH; Megacystis Microcolon Intestinal Hypoperistalsis Syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYL9 |
Zornitza Stark gene: MYL9 was added gene: MYL9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL9 were set to 29453416; 33031641 Phenotypes for gene: MYL9 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYL1 |
Zornitza Stark gene: MYL1 was added gene: MYL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 30215711 Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYH7 |
Zornitza Stark gene: MYH7 was added gene: MYH7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH7 were set to 22859017; 26337809; 25547560 Phenotypes for gene: MYH7 were set to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MYH2 |
Zornitza Stark gene: MYH2 was added gene: MYH2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH2 were set to 15548556; 11114175; 24193343; 23388406; 20418530; 23489661 Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MSTO1 |
Zornitza Stark gene: MSTO1 was added gene: MSTO1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 28544275; 29339779; 31130378; 31604776; 28554942 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MSMO1 |
Zornitza Stark gene: MSMO1 was added gene: MSMO1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 21285510; 24144731 Phenotypes for gene: MSMO1 were set to Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793; Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MRPS34 |
Zornitza Stark gene: MRPS34 was added gene: MRPS34 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MRAS |
Zornitza Stark gene: MRAS was added gene: MRAS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MRAS were set to 31108500; 28289718; 31173466 Phenotypes for gene: MRAS were set to Noonan syndrome 11, MONDO:0032786; Noonan syndrome 11, OMIM:618499 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MOGS |
Zornitza Stark gene: MOGS was added gene: MOGS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, OMIM:606056; MOGS-CDG, MONDO:0011629 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MN1 |
Zornitza Stark gene: MN1 was added gene: MN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MN1 were set to 31834374; 31839203; 15870292 Phenotypes for gene: MN1 were set to CEBALID syndrome, OMIM:618774; CEBALID syndrome, MONDO:0032908 Mode of pathogenicity for gene: MN1 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MITF |
Zornitza Stark gene: MITF was added gene: MITF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MITF were set to 27889061 Phenotypes for gene: MITF were set to Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome/ocular albinism, digenic, 103470; TIETZ SYNDROME; Waardenburg syndrome, type 2A, 193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; COMMAD syndrome, 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MIR17HG |
Zornitza Stark gene: MIR17HG was added gene: MIR17HG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MESD |
Zornitza Stark gene: MESD was added gene: MESD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESD were set to 31564437 Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, OMIM:618644; Osteogenesis imperfecta, type 20, MONDO:0032846 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MEOX1 |
Zornitza Stark gene: MEOX1 was added gene: MEOX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MEIS2 |
Zornitza Stark gene: MEIS2 was added gene: MEIS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MEIS2 were set to 30055086; 27225850; 25712757; 24678003; 30291340 Phenotypes for gene: MEIS2 were set to Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970; Cleft palate, cardiac defects, and mental retardation, OMIM:600987 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MED17 |
Zornitza Stark gene: MED17 was added gene: MED17 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MED13L |
Zornitza Stark gene: MED13L was added gene: MED13L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MECR |
Zornitza Stark gene: MECR was added gene: MECR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MECOM |
Zornitza Stark gene: MECOM was added gene: MECOM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MDH2 |
Zornitza Stark gene: MDH2 was added gene: MDH2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MBOAT7 |
Zornitza Stark gene: MBOAT7 was added gene: MBOAT7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MAT1A |
Zornitza Stark gene: MAT1A was added gene: MAT1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MAP3K7 |
Zornitza Stark gene: MAP3K7 was added gene: MAP3K7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, MONDO:0014935; Frontometaphyseal dysplasia 2, OMIM:617137; Cardiospondylocarpofacial syndrome, MONDO:0008005 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MAP3K20 |
Zornitza Stark gene: MAP3K20 was added gene: MAP3K20 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP3K20 were set to 26755636; 27816943 Phenotypes for gene: MAP3K20 were set to Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695; Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Split-foot malformation with mesoaxial polydactyly, OMIM:616890 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MANBA |
Zornitza Stark gene: MANBA was added gene: MANBA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MAN1B1 |
Zornitza Stark gene: MAN1B1 was added gene: MAN1B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MAMLD1 |
Zornitza Stark gene: MAMLD1 was added gene: MAMLD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MACF1 |
Zornitza Stark gene: MACF1 was added gene: MACF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MACF1 were set to 30471716 Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MONDO:0032677; Lissencephaly 9 with complex brainstem malformation, OMIM:618325 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LRRC56 |
Zornitza Stark gene: LRRC56 was added gene: LRRC56 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC56 were set to 30388400 Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LRIT3 |
Zornitza Stark gene: LRIT3 was added gene: LRIT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LRIG2 |
Zornitza Stark gene: LRIG2 was added gene: LRIG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LRBA |
Zornitza Stark gene: LRBA was added gene: LRBA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRBA were set to CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LRAT |
Zornitza Stark gene: LRAT was added gene: LRAT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LONP1 |
Zornitza Stark gene: LONP1 was added gene: LONP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LONP1 were set to CODAS syndrome, OMIM:600373; CODAS syndrome, MONDO:0010879 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LIPT2 |
Zornitza Stark gene: LIPT2 was added gene: LIPT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LIPT1 |
Zornitza Stark gene: LIPT1 was added gene: LIPT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LIPN |
Zornitza Stark gene: LIPN was added gene: LIPN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LINS1 |
Zornitza Stark gene: LINS1 was added gene: LINS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LIAS |
Zornitza Stark gene: LIAS was added gene: LIAS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LARS2 |
Zornitza Stark gene: LARS2 was added gene: LARS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS2 were set to 32442335; 26537577 Phenotypes for gene: LARS2 were set to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LAMB1 |
Zornitza Stark gene: LAMB1 was added gene: LAMB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB1 were set to Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077; Lissencephaly 5, OMIM:615191 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KRT74 |
Zornitza Stark gene: KRT74 was added gene: KRT74 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KPTN |
Zornitza Stark gene: KPTN was added gene: KPTN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KNL1 |
Zornitza Stark gene: KNL1 was added gene: KNL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KNL1 were set to 26626498; 26621532; 22983954 Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KMT2B |
Zornitza Stark gene: KMT2B was added gene: KMT2B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2B were set to Complex early-onset dystonia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KLHL7 |
Zornitza Stark gene: KLHL7 was added gene: KLHL7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL7 were set to PERCHING syndrome, MONDO:0014890; PERCHING syndrome, OMIM:617055 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KIF5C |
Zornitza Stark gene: KIF5C was added gene: KIF5C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF5C were set to Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282; Complex cortical dysplasia with other brain malformations 2, MONDO:0014116 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KIF2A |
Zornitza Stark gene: KIF2A was added gene: KIF2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF2A were set to Complex cortical dysplasia with other brain malformations 3, MONDO:0014170; Cortical dysplasia, complex, with other brain malformations 3, OMIM:615411 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KIF14 |
Zornitza Stark gene: KIF14 was added gene: KIF14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to 29343805; 24128419; 30388224; 28892560 Phenotypes for gene: KIF14 were set to Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552; Microcephaly 20, primary, autosomal recessive, OMIM:617914; Meckel syndrome 12, OMIM:616258; Microcephaly 20, primary, autosomal recessive, MONDO:0054761 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KIDINS220 |
Zornitza Stark gene: KIDINS220 was added gene: KIDINS220 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169 Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; cerebral ventriculomegaly; limb contractures; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KIAA0753 |
Zornitza Stark gene: KIAA0753 was added gene: KIAA0753 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0753 were set to 28220259; 29138412; 26643951 Phenotypes for gene: KIAA0753 were set to Orofaciodigital syndrome XV, MONDO:0014932; ?Orofaciodigital syndrome XV, OMIM:617127 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KDM1A |
Zornitza Stark gene: KDM1A was added gene: KDM1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNQ5 |
Zornitza Stark gene: KCNQ5 was added gene: KCNQ5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNJ8 |
Zornitza Stark gene: KCNJ8 was added gene: KCNJ8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ8 were set to 24700710; 25275207; 24176758 Phenotypes for gene: KCNJ8 were set to Cantu syndrome Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNJ6 |
Zornitza Stark gene: KCNJ6 was added gene: KCNJ6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNH1 |
Zornitza Stark gene: KCNH1 was added gene: KCNH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KCNC3 |
Zornitza Stark gene: KCNC3 was added gene: KCNC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KATNB1 |
Zornitza Stark gene: KATNB1 was added gene: KATNB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KATNB1 were set to 25521379; 26640080; 25521378 Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | JAM3 |
Zornitza Stark gene: JAM3 was added gene: JAM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ITGA8 |
Zornitza Stark gene: ITGA8 was added gene: ITGA8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA8 were set to 24439109 Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, OMIM:191830; Renal hypodysplasia/aplasia 1, MONDO:0024519 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ITCH |
Zornitza Stark gene: ITCH was added gene: ITCH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | IRX5 |
Zornitza Stark gene: IRX5 was added gene: IRX5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | INPP5K |
Zornitza Stark gene: INPP5K was added gene: INPP5K was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | IGFBP7 |
Zornitza Stark gene: IGFBP7 was added gene: IGFBP7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | IFT81 |
Zornitza Stark gene: IFT81 was added gene: IFT81 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT81 were set to 30080953; 26275418; 32783357; 27666822 Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485; Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | IFT52 |
Zornitza Stark gene: IFT52 was added gene: IFT52 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT52 were set to 27466190; 26880018; 31042281; 30242358 Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | IDH1 |
Zornitza Stark gene: IDH1 was added gene: IDH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IDH1 were set to 22057234; 22057236; 22025298; 24049096 Phenotypes for gene: IDH1 were set to Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000; Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ICK |
Zornitza Stark gene: ICK was added gene: ICK was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICK were set to 24853502; 19185282; 27466187; 27069622 Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HPD |
Zornitza Stark gene: HPD was added gene: HPD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to TYROSINEMIA TYPE 3; HAWKINSINURIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HOXB1 |
Zornitza Stark gene: HOXB1 was added gene: HOXB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HNRNPH2 |
Zornitza Stark gene: HNRNPH2 was added gene: HNRNPH2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HMX1 |
Zornitza Stark gene: HMX1 was added gene: HMX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HMGA2 |
Zornitza Stark gene: HMGA2 was added gene: HMGA2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HMGA2 were set to 28796236; 29655892; 29453418; 25809938 Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HIST1H4C |
Zornitza Stark gene: HIST1H4C was added gene: HIST1H4C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H4C were set to HIST1H4C |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HIST1H1E |
Zornitza Stark gene: HIST1H1E was added gene: HIST1H1E was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H1E were set to Rahman syndrome, OMIM:617537; Rahman syndrome, MONDO:0044323 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HESX1 |
Zornitza Stark gene: HESX1 was added gene: HESX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to Septooptic dysplasia, OMIM:182230; Septooptic dysplasia, MONDO:0008428 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | HADHB |
Zornitza Stark gene: HADHB was added gene: HADHB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, OMIM:609015; Mitochondrial trifunctional protein deficiency, MONDO:0012172 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GZF1 |
Zornitza Stark gene: GZF1 was added gene: GZF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GZF1 were set to Joint laxity, short stature, and myopia, OMIM:617662; Joint laxity, short stature, and myopia, MONDO:0060556 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GTF2E2 |
Zornitza Stark gene: GTF2E2 was added gene: GTF2E2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GSPT2 |
Zornitza Stark gene: GSPT2 was added gene: GSPT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GSC |
Zornitza Stark gene: GSC was added gene: GSC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSC were set to Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227; Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GRM1 |
Zornitza Stark gene: GRM1 was added gene: GRM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GRIN2D |
Zornitza Stark gene: GRIN2D was added gene: GRIN2D was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GRHL2 |
Zornitza Stark gene: GRHL2 was added gene: GRHL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GREB1L |
Zornitza Stark gene: GREB1L was added gene: GREB1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GREB1L were set to 29261186; 32378186; 31974414; 31424080; 29100091 Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GPX4 |
Zornitza Stark gene: GPX4 was added gene: GPX4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GPKOW |
Zornitza Stark gene: GPKOW was added gene: GPKOW was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPKOW were set to 28612833 Phenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GPC6 |
Zornitza Stark gene: GPC6 was added gene: GPC6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPC6 were set to Omodysplasia 1, OMIM:258315; Autosomal recessive omodysplasia, MONDO:0009779 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GPAA1 |
Zornitza Stark gene: GPAA1 was added gene: GPAA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GNB5 |
Zornitza Stark gene: GNB5 was added gene: GNB5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GNAQ |
Zornitza Stark gene: GNAQ was added gene: GNAQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAQ were set to Congenital Hemangioma |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GNAI1 |
Zornitza Stark gene: GNAI1 was added gene: GNAI1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAI1 were set to GNAI1 syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GNA14 |
Zornitza Stark gene: GNA14 was added gene: GNA14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNA14 were set to Congenital vascular tumours |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GNA11 |
Zornitza Stark gene: GNA11 was added gene: GNA11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNA11 were set to Congenital Hemangioma |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GMNN |
Zornitza Stark gene: GMNN was added gene: GMNN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, OMIM:616835; Meier-Gorlin syndrome 6, MONDO:0014794 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GM2A |
Zornitza Stark gene: GM2A was added gene: GM2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GLIS2 |
Zornitza Stark gene: GLIS2 was added gene: GLIS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GLI1 |
Zornitza Stark gene: GLI1 was added gene: GLI1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLI1 were set to Polydactyly, preaxial I, OMIM:174400; Polydactyly, postaxial, type A8, MONDO:0029130; Polydactyly, postaxial, type A8, OMIM:618123; Preaxial polydactyly of fingers, MONDO:0017425 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GFRA1 |
Zornitza Stark gene: GFRA1 was added gene: GFRA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFRA1 were set to 33020172 Phenotypes for gene: GFRA1 were set to Renal agenesis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GFPT1 |
Zornitza Stark gene: GFPT1 was added gene: GFPT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542; Congenital myasthenic syndrome 12, MONDO:0012518 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GATA3 |
Zornitza Stark gene: GATA3 was added gene: GATA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255; Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GANAB |
Zornitza Stark gene: GANAB was added gene: GANAB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916; Polycystic kidney disease 3, OMIM:600666 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GALNT2 |
Zornitza Stark gene: GALNT2 was added gene: GALNT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT2 were set to 27508872; 32293671 Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt OMIM:618885 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GABRG2 |
Zornitza Stark gene: GABRG2 was added gene: GABRG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRG2 were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GABRB2 |
Zornitza Stark gene: GABRB2 was added gene: GABRB2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GABRA1 |
Zornitza Stark gene: GABRA1 was added gene: GABRA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY; EPILEPTIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FZD5 |
Zornitza Stark gene: FZD5 was added gene: FZD5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FZD2 |
Zornitza Stark gene: FZD2 was added gene: FZD2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia, MONDO:0008123; Omodysplasia 2, OMIM:164745 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FUT8 |
Zornitza Stark gene: FUT8 was added gene: FUT8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005; Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FUCA1 |
Zornitza Stark gene: FUCA1 was added gene: FUCA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to FUCOSIDOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FRRS1L |
Zornitza Stark gene: FRRS1L was added gene: FRRS1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FRMPD4 |
Zornitza Stark gene: FRMPD4 was added gene: FRMPD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FRMPD4 were set to Intellectual Disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FOXP4 |
Zornitza Stark gene: FOXP4 was added gene: FOXP4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP4 were set to 33110267 Phenotypes for gene: FOXP4 were set to multiple congenital abnormalities; Neurodevelopmental disorder |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FOXP2 |
Zornitza Stark gene: FOXP2 was added gene: FOXP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXP2 were set to SPEECH-LANGUAGE DISORDER 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FOXL2 |
Zornitza Stark gene: FOXL2 was added gene: FOXL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FN1 |
Zornitza Stark gene: FN1 was added gene: FN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FMN2 |
Zornitza Stark gene: FMN2 was added gene: FMN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FMN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FMN2 were set to NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FKBP8 |
Zornitza Stark gene: FKBP8 was added gene: FKBP8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FKBP8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FKBP8 were set to 29261186; 32969478 Phenotypes for gene: FKBP8 were set to Spina bifida, HP:0002414; Vertebral segmentation defects |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FKBP10 |
Zornitza Stark gene: FKBP10 was added gene: FKBP10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP10 were set to Bruck syndrome 1, MONDO:0009806; Osteogenesis imperfecta, type XI, OMIM:610968; Osteogenesis imperfecta type 11, MONDO:0012592; Bruck syndrome 1, OMIM:259450 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FIG4 |
Zornitza Stark gene: FIG4 was added gene: FIG4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J, MONDO:0012640; Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FGF9 |
Zornitza Stark gene: FGF9 was added gene: FGF9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF9 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FEZF1 |
Zornitza Stark gene: FEZF1 was added gene: FEZF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FEZF1 were set to HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FANCM |
Zornitza Stark gene: FANCM was added gene: FANCM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCM were set to FANCONI ANEMIA; FANCM-RELATED FANCONI ANEMIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FANCL |
Zornitza Stark gene: FANCL was added gene: FANCL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, OMIM:614083; Fanconi anemia complementation group L, MONDO:0013566 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | FAM46A |
Zornitza Stark gene: FAM46A was added gene: FAM46A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type 18, MONDO:0044329; Osteogenesis imperfecta, type XVIII, OMIM:617952 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EXPH5 |
Zornitza Stark gene: EXPH5 was added gene: EXPH5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EXOC3L2 |
Zornitza Stark gene: EXOC3L2 was added gene: EXOC3L2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; Meckel-Gruber-like syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EMX2 |
Zornitza Stark gene: EMX2 was added gene: EMX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EMX2 were set to Schizencephaly, 269160 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EML1 |
Zornitza Stark gene: EML1 was added gene: EML1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EML1 were set to Band heterotopia, OMIM:600348 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EMG1 |
Zornitza Stark gene: EMG1 was added gene: EMG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMG1 were set to 19463982 Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180; Bowen-Conradi syndrome Mode of pathogenicity for gene: EMG1 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EMC1 |
Zornitza Stark gene: EMC1 was added gene: EMC1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ELMO2 |
Zornitza Stark gene: ELMO2 was added gene: ELMO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EIF2S3 |
Zornitza Stark gene: EIF2S3 was added gene: EIF2S3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, OMIM:300148; MEHMO syndrome, MONDO:0010258 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EHBP1L1 |
Zornitza Stark gene: EHBP1L1 was added gene: EHBP1L1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHBP1L1 were set to 26833786; https://dmdd.org.uk/mutants/Ehbp1l1; 34645488 Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EEF1A2 |
Zornitza Stark gene: EEF1A2 was added gene: EEF1A2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EED |
Zornitza Stark gene: EED was added gene: EED was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EED were set to Cohen-Gibson syndrome, MONDO:0060510; Cohen-Gibson syndrome, OMIM:617561 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EDN1 |
Zornitza Stark gene: EDN1 was added gene: EDN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DZIP1L |
Zornitza Stark gene: DZIP1L was added gene: DZIP1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DYNC2LI1 |
Zornitza Stark gene: DYNC2LI1 was added gene: DYNC2LI1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DSG1 |
Zornitza Stark gene: DSG1 was added gene: DSG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DRC1 |
Zornitza Stark gene: DRC1 was added gene: DRC1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DPM3 |
Zornitza Stark gene: DPM3 was added gene: DPM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM3 were set to ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DPM2 |
Zornitza Stark gene: DPM2 was added gene: DPM2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, 615042 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DPH1 |
Zornitza Stark gene: DPH1 was added gene: DPH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPH1 were set to 25558065; 32732226; 30877278; 29362492 Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DPF2 |
Zornitza Stark gene: DPF2 was added gene: DPF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DPF2 were set to Coffin Siris like disorder |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DONSON |
Zornitza Stark gene: DONSON was added gene: DONSON was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DONSON were set to Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DOCK7 |
Zornitza Stark gene: DOCK7 was added gene: DOCK7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNM2 |
Zornitza Stark gene: DNM2 was added gene: DNM2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DNM2 were set to PMID: 30208955 Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNM1L |
Zornitza Stark gene: DNM1L was added gene: DNM1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNM1 |
Zornitza Stark gene: DNM1 was added gene: DNM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNAL1 |
Zornitza Stark gene: DNAL1 was added gene: DNAL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16, 614017 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNAJC19 |
Zornitza Stark gene: DNAJC19 was added gene: DNAJC19 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNAJC12 |
Zornitza Stark gene: DNAJC12 was added gene: DNAJC12 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, Dystonia, and Intellectual Disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNAJB11 |
Zornitza Stark gene: DNAJB11 was added gene: DNAJB11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, 618061 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNAI2 |
Zornitza Stark gene: DNAI2 was added gene: DNAI2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus,612444 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNAAF5 |
Zornitza Stark gene: DNAAF5 was added gene: DNAAF5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia 18, MONDO:0013940; Ciliary dyskinesia, primary, 18, OMIM:614874 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DNAAF2 |
Zornitza Stark gene: DNAAF2 was added gene: DNAAF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10, 612518 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DLX5 |
Zornitza Stark gene: DLX5 was added gene: DLX5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DLX5 were set to ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DLG4 |
Zornitza Stark gene: DLG4 was added gene: DLG4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DLG4 were set to DLG4 related intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DISP1 |
Zornitza Stark gene: DISP1 was added gene: DISP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DISP1 were set to 27363716 Phenotypes for gene: DISP1 were set to Holoprosencephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DIAPH1 |
Zornitza Stark gene: DIAPH1 was added gene: DIAPH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome, 616632 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DHX30 |
Zornitza Stark gene: DHX30 was added gene: DHX30 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DHTKD1 |
Zornitza Stark gene: DHTKD1 was added gene: DHTKD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DHDDS |
Zornitza Stark gene: DHDDS was added gene: DHDDS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHDDS were set to Epilepsy and intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DENND5A |
Zornitza Stark gene: DENND5A was added gene: DENND5A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DENND5A were set to Developmental and epileptic encephalopathy, 49, MONDO:0015002; Developmental and epileptic encephalopathy 49, OMIM:617281 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DDX6 |
Zornitza Stark gene: DDX6 was added gene: DDX6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DDX59 |
Zornitza Stark gene: DDX59 was added gene: DDX59 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, MONDO:0008267; Orofaciodigital syndrome V, OMIM:174300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DCDC2 |
Zornitza Stark gene: DCDC2 was added gene: DCDC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCDC2 were set to RENAL-HEPATIC CILIOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DCC |
Zornitza Stark gene: DCC was added gene: DCC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CYP4F22 |
Zornitza Stark gene: CYP4F22 was added gene: CYP4F22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CYP26B1 |
Zornitza Stark gene: CYP26B1 was added gene: CYP26B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CYB5R3 |
Zornitza Stark gene: CYB5R3 was added gene: CYB5R3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYB5R3 were set to METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CUX2 |
Zornitza Stark gene: CUX2 was added gene: CUX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CTU2 |
Zornitza Stark gene: CTU2 was added gene: CTU2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CTNND1 |
Zornitza Stark gene: CTNND1 was added gene: CTNND1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CTDP1 |
Zornitza Stark gene: CTDP1 was added gene: CTDP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTDP1 were set to 20301787; 14517542; 24690360; 29174527 Phenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CSTA |
Zornitza Stark gene: CSTA was added gene: CSTA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTA were set to EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CRIPT |
Zornitza Stark gene: CRIPT was added gene: CRIPT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CRELD1 |
Zornitza Stark gene: CRELD1 was added gene: CRELD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CREB3L1 |
Zornitza Stark gene: CREB3L1 was added gene: CREB3L1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CRADD |
Zornitza Stark gene: CRADD was added gene: CRADD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRADD were set to Megalencephaly with Variant Lissencephaly |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CPAMD8 |
Zornitza Stark gene: CPAMD8 was added gene: CPAMD8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPAMD8 were set to Anterior Segment Dysgenesis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COLQ |
Zornitza Stark gene: COLQ was added gene: COLQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLQ were set to 9689136; 11865139 Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COLEC10 |
Zornitza Stark gene: COLEC10 was added gene: COLEC10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLEC10 were set to 3MC syndrome 3, MONDO:0009554; 3MC syndrome 3, OMIM:248340 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL25A1 |
Zornitza Stark gene: COL25A1 was added gene: COL25A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL13A1 |
Zornitza Stark gene: COL13A1 was added gene: COL13A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, OMIM:616720; Congenital myasthenic syndrome 19, MONDO:0014745 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL12A1 |
Zornitza Stark gene: COL12A1 was added gene: COL12A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL12A1 were set to ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COG6 |
Zornitza Stark gene: COG6 was added gene: COG6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COG5 |
Zornitza Stark gene: COG5 was added gene: COG5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG5 were set to COG5-CDG, MONDO:0013325; Congenital disorder of glycosylation, type III, OMIM:613612 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CNTN1 |
Zornitza Stark gene: CNTN1 was added gene: CNTN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN1 were set to 32779773; 19026398 Phenotypes for gene: CNTN1 were set to Myopathy, congenital, Compton-North, OMIM:612540 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CNKSR2 |
Zornitza Stark gene: CNKSR2 was added gene: CNKSR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CNBP |
Zornitza Stark gene: CNBP was added gene: CNBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLTC |
Zornitza Stark gene: CLTC was added gene: CLTC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLTC were set to 33743358 Phenotypes for gene: CLTC were set to Fetal growth restriction; Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLPP |
Zornitza Stark gene: CLPP was added gene: CLPP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLPP were set to PERRAULT SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLP1 |
Zornitza Stark gene: CLP1 was added gene: CLP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, OMIM:615803; Pontocerebellar hypoplasia type 10, MONDO:0014349 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLMP |
Zornitza Stark gene: CLMP was added gene: CLMP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLMP were set to CONGENITAL SHORT BOWEL SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CLCNKB |
Zornitza Stark gene: CLCNKB was added gene: CLCNKB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CIT |
Zornitza Stark gene: CIT was added gene: CIT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, OMIM:617090; Microcephaly 17, primary, autosomal recessive, MONDO:0014908 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHRNE |
Zornitza Stark gene: CHRNE was added gene: CHRNE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHRNB2 |
Zornitza Stark gene: CHRNB2 was added gene: CHRNB2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT; NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHRNB1 |
Zornitza Stark gene: CHRNB1 was added gene: CHRNB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHRNA3 |
Zornitza Stark gene: CHRNA3 was added gene: CHRNA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHMP1A |
Zornitza Stark gene: CHMP1A was added gene: CHMP1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia type 8, MONDO:0013990; Pontocerebellar hypoplasia, type 8, OMIM:614961 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHD8 |
Zornitza Stark gene: CHD8 was added gene: CHD8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD8 were set to AUTISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CHD3 |
Zornitza Stark gene: CHD3 was added gene: CHD3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD3 were set to Apraxia of speech |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CFL2 |
Zornitza Stark gene: CFL2 was added gene: CFL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFL2 were set to Nemaline myopathy 7, MONDO:0012538; Nemaline myopathy 7, autosomal recessive, OMIM:610687 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CERS3 |
Zornitza Stark gene: CERS3 was added gene: CERS3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CEP63 |
Zornitza Stark gene: CEP63 was added gene: CEP63 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP63 were set to ?Seckel syndrome 6, OMIM:614728; Seckel syndrome 6, MONDO:0013871 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CEP55 |
Zornitza Stark gene: CEP55 was added gene: CEP55 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 28295209; 28264986; 30622327 Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CEP135 |
Zornitza Stark gene: CEP135 was added gene: CEP135 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP135 were set to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CENPF |
Zornitza Stark gene: CENPF was added gene: CENPF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 25564561; PMID: 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome, 243605 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CELSR1 |
Zornitza Stark gene: CELSR1 was added gene: CELSR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CELSR1 were set to Lymphatic malformation 9, OMIM:619319 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CDK5RAP2 |
Zornitza Stark gene: CDK5RAP2 was added gene: CDK5RAP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MONDO:0011488; Microcephaly 3, primary, autosomal recessive, OMIM:604804 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CD96 |
Zornitza Stark gene: CD96 was added gene: CD96 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CD96 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CD96 were set to C SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CD151 |
Zornitza Stark gene: CD151 was added gene: CD151 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CCDC88C |
Zornitza Stark gene: CCDC88C was added gene: CCDC88C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360; Hydrocephalus, congenital, 1, OMIM:236600 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CCDC8 |
Zornitza Stark gene: CCDC8 was added gene: CCDC8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC8 were set to 3M syndrome 3, MONDO:0013627; 3-M syndrome 3, OMIM:614205 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CCDC78 |
Zornitza Stark gene: CCDC78 was added gene: CCDC78 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CCDC22 |
Zornitza Stark gene: CCDC22 was added gene: CCDC22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CCDC151 |
Zornitza Stark gene: CCDC151 was added gene: CCDC151 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC151 were set to Primary ciliary dyskinesia 30, MONDO:0014465; Ciliary dyskinesia, primary, 30, OMIM:616037 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CASR |
Zornitza Stark gene: CASR was added gene: CASR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalcemia, autosomal dominant, 601198; Hyperparathyroidism, neonatal, 239200 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CARS2 |
Zornitza Stark gene: CARS2 was added gene: CARS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CANT1 |
Zornitza Stark gene: CANT1 was added gene: CANT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CANT1 were set to Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CAMTA1 |
Zornitza Stark gene: CAMTA1 was added gene: CAMTA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CAMK2B |
Zornitza Stark gene: CAMK2B was added gene: CAMK2B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMK2B were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CAMK2A |
Zornitza Stark gene: CAMK2A was added gene: CAMK2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMK2A were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CACNA1G |
Zornitza Stark gene: CACNA1G was added gene: CACNA1G was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CACNA1D |
Zornitza Stark gene: CACNA1D was added gene: CACNA1D was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CACNA1A |
Zornitza Stark gene: CACNA1A was added gene: CACNA1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CA5A |
Zornitza Stark gene: CA5A was added gene: CA5A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | C2CD3 |
Zornitza Stark gene: C2CD3 was added gene: C2CD3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV, OMIM:615948; Orofaciodigital syndrome type 14, MONDO:0014413 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | C21orf59 |
Zornitza Stark gene: C21orf59 was added gene: C21orf59 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf59 were set to Primary ciliary dyskinesia 26, MONDO:0014211; Ciliary dyskinesia, primary, 26, OMIM:615500 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | C1QBP |
Zornitza Stark gene: C1QBP was added gene: C1QBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | C12orf57 |
Zornitza Stark gene: C12orf57 was added gene: C12orf57 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BPTF |
Zornitza Stark gene: BPTF was added gene: BPTF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BPTF were set to Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BOLA3 |
Zornitza Stark gene: BOLA3 was added gene: BOLA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BNC2 |
Zornitza Stark gene: BNC2 was added gene: BNC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital, 618612 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BLOC1S6 |
Zornitza Stark gene: BLOC1S6 was added gene: BLOC1S6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BCL9L |
Zornitza Stark gene: BCL9L was added gene: BCL9L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCL9L were set to 23035047 Phenotypes for gene: BCL9L were set to Heterotaxy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | BANF1 |
Zornitza Stark gene: BANF1 was added gene: BANF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | B9D2 |
Zornitza Stark gene: B9D2 was added gene: B9D2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to 21763481; 31411728; 26092869 Phenotypes for gene: B9D2 were set to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | B9D1 |
Zornitza Stark gene: B9D1 was added gene: B9D1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D1 were set to 32622957; 24886560 Phenotypes for gene: B9D1 were set to Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Meckel syndrome 9, OMIM:614209; Joubert syndrome 27, MONDO:0014927 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | B4GAT1 |
Zornitza Stark gene: B4GAT1 was added gene: B4GAT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to 23877401; 23359570 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | B3GALNT2 |
Zornitza Stark gene: B3GALNT2 was added gene: B3GALNT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ATR |
Zornitza Stark gene: ATR was added gene: ATR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATR were set to Seckel syndrome 1, MONDO:0008869; Seckel syndrome 1, OMIM:210600 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ATP6V1B2 |
Zornitza Stark gene: ATP6V1B2 was added gene: ATP6V1B2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 31608932; 30690204 Phenotypes for gene: ATP1A2 were set to hydrops fetalis; arthrogryposis; microcephaly; extensive cortical malformations |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ASXL3 |
Zornitza Stark gene: ASXL3 was added gene: ASXL3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ASXL2 |
Zornitza Stark gene: ASXL2 was added gene: ASXL2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ASPH |
Zornitza Stark gene: ASPH was added gene: ASPH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPH were set to Traboulsi syndrome, OMIM:601552 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ARID2 |
Zornitza Stark gene: ARID2 was added gene: ARID2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ARHGAP29 |
Zornitza Stark gene: ARHGAP29 was added gene: ARHGAP29 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARHGAP29 were set to Cleft palate; cleft lip with or without cleft palate |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ARFGEF2 |
Zornitza Stark gene: ARFGEF2 was added gene: ARFGEF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, OMIM:608097 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AP4S1 |
Zornitza Stark gene: AP4S1 was added gene: AP4S1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AP4M1 |
Zornitza Stark gene: AP4M1 was added gene: AP4M1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AP3B2 |
Zornitza Stark gene: AP3B2 was added gene: AP3B2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ANTXR2 |
Zornitza Stark gene: ANTXR2 was added gene: ANTXR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANTXR2 were set to 30176098; 20301698; 14508707 Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ANKS6 |
Zornitza Stark gene: ANKS6 was added gene: ANKS6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ANKRD26 |
Zornitza Stark gene: ANKRD26 was added gene: ANKRD26 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AMMECR1 |
Zornitza Stark gene: AMMECR1 was added gene: AMMECR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AMBRA1 |
Zornitza Stark gene: AMBRA1 was added gene: AMBRA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMBRA1 were set to 32333458; 17589504 Phenotypes for gene: AMBRA1 were set to Neural tube defects |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AMACR |
Zornitza Stark gene: AMACR was added gene: AMACR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, 614307 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALOXE3 |
Zornitza Stark gene: ALOXE3 was added gene: ALOXE3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALOX12B |
Zornitza Stark gene: ALOX12B was added gene: ALOX12B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALG9 |
Zornitza Stark gene: ALG9 was added gene: ALG9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 25966638; 28932688; 26453364; 31420886 Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210; ALG9-CDG; hydops fetalis; AR lethal skeletal dysplasia; NIHF |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALG2 |
Zornitza Stark gene: ALG2 was added gene: ALG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG2 were set to ALG2-CDG |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALG13 |
Zornitza Stark gene: ALG13 was added gene: ALG13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ALG13 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ALG11 |
Zornitza Stark gene: ALG11 was added gene: ALG11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG11 were set to ALG11-CDG |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AKT2 |
Zornitza Stark gene: AKT2 was added gene: AKT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT2 were set to 24285683; 21979934; 28502730 Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AIMP1 |
Zornitza Stark gene: AIMP1 was added gene: AIMP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AIFM1 |
Zornitza Stark gene: AIFM1 was added gene: AIFM1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COWCHOCK SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AHCY |
Zornitza Stark gene: AHCY was added gene: AHCY was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 20852937; 31957987; 30121674 Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AFF3 |
Zornitza Stark gene: AFF3 was added gene: AFF3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ADAMTS3 |
Zornitza Stark gene: ADAMTS3 was added gene: ADAMTS3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS3 were set to 30450763; 28985353 Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ACVR1 |
Zornitza Stark gene: ACVR1 was added gene: ACVR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ACSL4 |
Zornitza Stark gene: ACSL4 was added gene: ACSL4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ACO2 |
Zornitza Stark gene: ACO2 was added gene: ACO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ABL1 |
Zornitza Stark gene: ABL1 was added gene: ABL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ABCD4 |
Zornitza Stark gene: ABCD4 was added gene: ABCD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AASS |
Zornitza Stark gene: AASS was added gene: AASS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AASS were set to Hyperlysinemia (disease), MONDO:0009388; Hyperlysinemia, OMIM:238700 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS were set to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZMPSTE24 |
Zornitza Stark gene: ZMPSTE24 was added gene: ZMPSTE24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to HETEROTAXY SYNDROME; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZIC2 |
Zornitza Stark gene: ZIC2 was added gene: ZIC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZIC1 |
Zornitza Stark gene: ZIC1 was added gene: ZIC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZFP57 |
Zornitza Stark gene: ZFP57 was added gene: ZFP57 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZEB2 |
Zornitza Stark gene: ZEB2 was added gene: ZEB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZC4H2 |
Zornitza Stark gene: ZC4H2 was added gene: ZC4H2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZC4H2 were set to 30712880 Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZBTB20 |
Zornitza Stark gene: ZBTB20 was added gene: ZBTB20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZBTB18 |
Zornitza Stark gene: ZBTB18 was added gene: ZBTB18 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | YY1 |
Zornitza Stark gene: YY1 was added gene: YY1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | XYLT1 |
Zornitza Stark gene: XYLT1 was added gene: XYLT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | XRCC4 |
Zornitza Stark gene: XRCC4 was added gene: XRCC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WT1 |
Zornitza Stark gene: WT1 was added gene: WT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME; FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WRAP53 |
Zornitza Stark gene: WRAP53 was added gene: WRAP53 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WNT7A |
Zornitza Stark gene: WNT7A was added gene: WNT7A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME; LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WNT5A |
Zornitza Stark gene: WNT5A was added gene: WNT5A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WNT10B |
Zornitza Stark gene: WNT10B was added gene: WNT10B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6, OMIM:225300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WNT1 |
Zornitza Stark gene: WNT1 was added gene: WNT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, OMIM:615220 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR62 |
Zornitza Stark gene: WDR62 was added gene: WDR62 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR60 |
Zornitza Stark gene: WDR60 was added gene: WDR60 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR60 were set to SHORT-RIB POLYDACTYLY; JEUNE SYNDROMES |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR35 |
Zornitza Stark gene: WDR35 was added gene: WDR35 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA 2; SHORT RIB-POLYDACTYLY SYNDROME, TYPE V |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR34 |
Zornitza Stark gene: WDR34 was added gene: WDR34 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III; SEVERE ASPHYXIATING THORACIC DYSPLASIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR26 |
Zornitza Stark gene: WDR26 was added gene: WDR26 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDR19 |
Zornitza Stark gene: WDR19 was added gene: WDR19 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4; ASPHYXIATING THORACIC DYSTROPHY 5 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | WDPCP |
Zornitza Stark gene: WDPCP was added gene: WDPCP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VSX2 |
Zornitza Stark gene: VSX2 was added gene: VSX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VSX2 were set to MICROPHTHALMIA ISOLATED TYPE 2; MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES; MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VPS53 |
Zornitza Stark gene: VPS53 was added gene: VPS53 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 12920088; 24577744; 30100179 Phenotypes for gene: VPS53 were set to Progressive cerebella-cerebral atrophy type 2; PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VPS33B |
Zornitza Stark gene: VPS33B was added gene: VPS33B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VPS13B |
Zornitza Stark gene: VPS13B was added gene: VPS13B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13B were set to 20683995 Phenotypes for gene: VPS13B were set to COHEN SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | VIPAS39 |
Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UROS |
Zornitza Stark gene: UROS was added gene: UROS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UMPS |
Zornitza Stark gene: UMPS was added gene: UMPS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UMPS were set to OROTIC ACIDURIA TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UBR1 |
Zornitza Stark gene: UBR1 was added gene: UBR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UBE3B |
Zornitza Stark gene: UBE3B was added gene: UBE3B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | UBA1 |
Zornitza Stark gene: UBA1 was added gene: UBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TXNL4A |
Zornitza Stark gene: TXNL4A was added gene: TXNL4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TXNL4A were set to BURN MCKEOWN SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TWIST2 |
Zornitza Stark gene: TWIST2 was added gene: TWIST2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TWIST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TWIST2 were set to 26119818 Phenotypes for gene: TWIST2 were set to Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885 Mode of pathogenicity for gene: TWIST2 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TWIST1 |
Zornitza Stark gene: TWIST1 was added gene: TWIST1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME; CRANIOSYNOSTOSIS, TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TUBGCP6 |
Zornitza Stark gene: TUBGCP6 was added gene: TUBGCP6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TUBB4A |
Zornitza Stark gene: TUBB4A was added gene: TUBB4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TUBB2B |
Zornitza Stark gene: TUBB2B was added gene: TUBB2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TUBB2A |
Zornitza Stark gene: TUBB2A was added gene: TUBB2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB2A were set to 28840640; 30016746; 25326637; 27770045; 24702957 Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Mode of pathogenicity for gene: TUBB2A was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||