PanelApp (test)

Activity

Filter

Cancel
Date Panel Item Activity
1959 actions
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Fetal anomalies v0.1449 ACVRL1 Zornitza Stark Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark changed review comment from: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.; to: There is debate about when AVMs form and whether they are congenital or not. However, neonatal presentations reported, and at least one report identified of antenatal presentation with Vein of Galen malformation.
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark changed review comment from: Typically presents post-natally.; to: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1446 ACAT1 Zornitza Stark changed review comment from: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.; to: Primarily manifests as metabolic decompensation post-natally.
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Fetal anomalies v0.1445 OPHN1 Daniel Flanagan reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Phenotypes for gene: ABCB11 were changed from ABCB11-RELATED INTRAHEPATIC CHOLESTASIS to Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR
Fetal anomalies v0.1441 ABCB11 Zornitza Stark reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1441 DCDC2 Zornitza Stark changed review comment from: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).; to: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).

Most reports are of neonatal cholangitis.
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Fetal anomalies v0.1437 NUBPL Daniel Flanagan reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982452; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Marked gene: CYB5R3 as ready
Fetal anomalies v0.1433 CUX2 Zornitza Stark Marked gene: CUX2 as ready
Fetal anomalies v0.1433 CUX2 Zornitza Stark Phenotypes for gene: CUX2 were changed from Developmental epileptic encephalopathy to Epileptic encephalopathy, early infantile, 67, MIM#618141
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 v0.1426 CTNND1 Zornitza Stark Marked gene: CTNND1 as ready
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Phenotypes for gene: CTNND1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 2, MIM# 617681
Fetal anomalies v0.1423 CTNND1 Zornitza Stark changed review comment from: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.

PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).

This more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues. Unclear from description whether significant ID present.
Sources: Literature; to: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.

PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).

This more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues.
Sources: Literature
Fetal anomalies v0.1423 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Fetal anomalies v0.1422 CHRNE Zornitza Stark changed review comment from: Well established association with congenital myasthenia, some individuals reported with arthrogryposis but cannot find specific reports of multiple pterygium syndrome.; to: Well established association with congenital myasthenia, some individuals reported with arthrogryposis.
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168
Fetal anomalies v0.1419 CSTA Zornitza Stark Marked gene: CSTA as ready
Fetal anomalies v0.1417 CRIPT Zornitza Stark Marked gene: CRIPT as ready
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from HETEROTAXY SYNDROME to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Fetal anomalies v0.1411 CRADD Zornitza Stark Marked gene: CRADD as ready
Fetal anomalies v0.1411 CRADD Zornitza Stark Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Fetal anomalies v0.1408 HHAT Zornitza Stark Marked gene: HHAT as ready
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 v0.1406 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Fetal anomalies v0.1403 COLQ Zornitza Stark Marked gene: COLQ as ready
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 v0.1400 HOXB1 Zornitza Stark Marked gene: HOXB1 as ready
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Phenotypes for gene: HOXB1 were changed from FACIAL PARESIS, HEREDITARY CONGENITAL, 3 to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880
Fetal anomalies v0.1397 HOXB1 Zornitza Stark reviewed gene: HOXB1: Rating: RED; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744, MONDO:0013880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Fetal anomalies v0.1395 COLEC10 Zornitza Stark changed review comment from: Cleft lip/palate are a feature.; to: Cleft lip/palate are a feature. At least 4 families reported.
Fetal anomalies v0.1395 COLEC10 Zornitza Stark changed review comment from: ID is not reported as a feature in molecularly confirmed cases with variants in this gene.; to: Cleft lip/palate are a feature.
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 34, MIM# 616351
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Marked gene: COL25A1 as ready
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219
Fetal anomalies v0.1388 COL25A1 Zornitza Stark reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: None; Publications: 25500261, 26486031, 31875546, 26437029; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from ZBTB18 syndrome to Mental retardation, autosomal dominant 22, MIM# 612337; Intellectual disability; microcephaly; corpus callosum abnormalities
Fetal anomalies v0.1383 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Marked gene: COL12A1 as ready
Fetal anomalies v0.1372 COL12A1 Zornitza Stark edited their review of gene: COL12A1: Changed phenotypes: Ullrich congenital muscular dystrophy 2, 616470, Bethlem myopathy 2, 616471
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Phenotypes for gene: COL12A1 were changed from ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471
Fetal anomalies v0.1369 COG6 Zornitza Stark Marked gene: COG6 as ready
Fetal anomalies v0.1368 COG6 Zornitza Stark changed review comment from: ID is part of the phenotype.; to: IUGR and microcephaly are a feature.
Fetal anomalies v0.1368 COG5 Zornitza Stark Marked gene: COG5 as ready
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Marked gene: ALDH1A2 as ready
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Marked gene: ADAMTS19 as ready
Fetal anomalies v0.1364 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Fetal anomalies v0.1363 TP73 Zornitza Stark Marked gene: TP73 as ready
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
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 v0.1361 CNTN1 Zornitza Stark Marked gene: CNTN1 as ready
Fetal anomalies v0.1360 CNTN1 Zornitza Stark changed review comment from: Single family reported, some functional data, no further reports since 2008 identified. Some pathogenic variants reported in ClinVar by diagnostic laboratories.

Severe perinatal presentation.; to: Single family reported, some functional data, further family recently reported as part of a cohort. Some pathogenic variants reported in ClinVar by diagnostic laboratories.

Severe perinatal presentation.
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Fetal anomalies v0.1355 CNBP Zornitza Stark Marked gene: CNBP as ready
Fetal anomalies v0.1350 CLTC Zornitza Stark changed review comment from: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual.; to: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual. Microcephaly is acquired.
Fetal anomalies v0.1350 CLTC Zornitza Stark changed review comment from: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.; to: More than 10 unrelated individuals with de novo variants in this gene reported. Individuals with refractory epilepsy were found to carry variants in the first section of the clathrin light chain-binding domain, whereas truncating mutations affecting the C terminus tended to be associated with hypotonia, global developmental delay, and intellectual disability.

Hydrocephalus in one individual.
Fetal anomalies v0.1350 CLPP Zornitza Stark Marked gene: CLPP as ready
Fetal anomalies v0.1348 CLPP Zornitza Stark changed review comment from: As far as I can ascertain, ID has only been reported in one consanguineous family and most affected individuals have the combination of deafness/POF.; to: Most affected individuals have the combination of deafness/POF which would not be detectable antenatally.
Fetal anomalies v0.1348 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Fetal anomalies v0.1346 CLMP Zornitza Stark Marked gene: CLMP as ready
Fetal anomalies v0.1343 CIT Zornitza Stark Marked gene: CIT as ready
Fetal anomalies v0.1340 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Fetal anomalies v0.1337 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Fetal anomalies v0.1334 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Fetal anomalies v0.1334 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from HEREDITARY MULTIPLE EXOSTOSES TYPE 1; TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Fetal anomalies v0.1331 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Fetal anomalies v0.1329 EVC Zornitza Stark Marked gene: EVC as ready
Fetal anomalies v0.1327 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Fetal anomalies v0.1327 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from GLUTARIC ACIDURIA TYPE 2C to Glutaric acidemia IIC, MIM#231680
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 v0.1326 ETFB Zornitza Stark Marked gene: ETFB as ready
Fetal anomalies v0.1326 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidaemia IIB, MIM#231680
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 v0.1325 ETFA Zornitza Stark Marked gene: ETFA as ready
Fetal anomalies v0.1325 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, MIM#231680
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 v0.1324 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Fetal anomalies v0.1324 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from ROBERTS SYNDROME; SC PHOCOMELIA SYNDROME to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Fetal anomalies v0.1322 ERF Zornitza Stark Marked gene: ERF as ready
Fetal anomalies v0.1322 ERF Zornitza Stark Phenotypes for gene: ERF were changed from Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; COMPLEX CRANIOSYNOSTOSIS to Chitayat syndrome, MIM#617180; Craniosynostosis 4, MIM#600775
Fetal anomalies v0.1319 ERF Zornitza Stark changed review comment from: ID is not really part of the phenotype of either condition; mild learning difficulties described in some individuals affected by craniosynostosis 4.; to: Over 20 unrelated families reported. Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis.

Variants in this gene are also associated with Chitayat syndrome, which has skeletal abnormalities as a feature.
Fetal anomalies v0.1319 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Fetal anomalies v0.1317 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Fetal anomalies v0.1315 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Fetal anomalies v0.1315 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from PRIMORDIAL DWARFISM; Xeroderma pigmentosum, group F, 278760; XERODERMA PIGMENTOSUM, GROUP F; XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q to Fanconi anaemia, complementation group Q, MIM# 615272; MONDO:0014108; XFE progeroid syndrome, MIM# 610965
Fetal anomalies v0.1313 ERCC4 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects.; to: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects, and XFE progeroid syndrome, with microcephaly a feature.
Fetal anomalies v0.1313 ERCC1 Zornitza Stark Marked gene: ERCC1 as ready
Fetal anomalies v0.1311 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Fetal anomalies v0.1311 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM to Vici syndrome, MIM# 242840
Fetal anomalies v0.1309 EOGT Zornitza Stark Marked gene: EOGT as ready
Fetal anomalies v0.1307 ADSL Zornitza Stark Marked gene: ADSL as ready
Fetal anomalies v0.1305 ACTC1 Zornitza Stark changed review comment from: Well established association with cardiomyopathies. Four families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD. Two had the same variant, founder.
Fetal anomalies v0.1305 ELN Zornitza Stark Marked gene: ELN as ready
Fetal anomalies v0.1305 ELN Zornitza Stark Phenotypes for gene: ELN were changed from ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS to Cutis laxa 123700; Supravalvar aortic stenosis 185500
Fetal anomalies v0.1303 EIF4A3 Zornitza Stark Marked gene: EIF4A3 as ready
Fetal anomalies v0.1301 EIF2B3 Zornitza Stark Marked gene: EIF2B3 as ready
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 v0.1299 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Fetal anomalies v0.1299 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from BRANCHIOOTORENAL SYNDROME TYPE 1 to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Fetal anomalies v0.1296 EYA1 Belinda Chong reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359046, 13269867, 263442; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1296 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Fetal anomalies v0.1294 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Fetal anomalies v0.1294 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 1 to Pontocerebellar hypoplasia, type 1B 614678
Fetal anomalies v0.1292 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Fetal anomalies v0.1292 FAT4 Zornitza Stark Phenotypes for gene: FAT4 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546
Fetal anomalies v0.1290 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Fetal anomalies v0.1288 FGF8 Zornitza Stark Marked gene: FGF8 as ready
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Marked gene: FKBP14 as ready
Fetal anomalies v0.1285 FKBP14 Zornitza Stark Phenotypes for gene: FKBP14 were changed from EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557
Fetal anomalies v0.1283 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Fetal anomalies v0.1283 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from BAMFORTH-LAZARUS SYNDROME to Bamforth-Lazarus syndrome, MIM# 241850; MONDO:0009437
Fetal anomalies v0.1281 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Fetal anomalies v0.1281 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
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 Marked gene: FOXG1 as ready
Fetal anomalies v0.1276 EXOSC3 Belinda Chong reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 25149867, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1276 FREM2 Zornitza Stark Marked gene: FREM2 as ready
Fetal anomalies v0.1274 GAA Zornitza Stark Marked gene: GAA as ready
Fetal anomalies v0.1273 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Fetal anomalies v0.1273 NPR2 Zornitza Stark Phenotypes for gene: NPR2 were changed from ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE to Acromesomelic dysplasia 1, Maroteaux type (MIM#602875); Epiphyseal chondrodysplasia, Miura type (MIM#615923); Short stature with nonspecific skeletal abnormalities (MIM#616255)
Fetal anomalies v0.1268 GALE Zornitza Stark Marked gene: GALE as ready
Fetal anomalies v0.1266 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Fetal anomalies v0.1266 GALK1 Zornitza Stark Phenotypes for gene: GALK1 were changed from GALACTOSEMIA II to Galactokinase deficiency with cataracts MIM#230200
Fetal anomalies v0.1264 GALK1 Ain Roesley changed review comment from: There is no structural changes that can be identified in a neonate with this condition; to: Cataracts' visible on ultrasound
Fetal anomalies v0.1264 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1264 GALNS Zornitza Stark Marked gene: GALNS as ready
Fetal anomalies v0.1264 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 4A to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659
Fetal anomalies v0.1262 GALNS Zornitza Stark reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1262 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Fetal anomalies v0.1262 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from ATRIAL SEPTAL DEFECT TYPE 2 to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Fetal anomalies v0.1259 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
Fetal anomalies v0.1257 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Fetal anomalies v0.1255 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Fetal anomalies v0.1252 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Fetal anomalies v0.1252 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION to Adams-Oliver syndrome 5 (MIM#616028)
Fetal anomalies v0.1249 NOG Zornitza Stark Marked gene: NOG as ready
Fetal anomalies v0.1249 NOG Zornitza Stark Phenotypes for gene: NOG were changed from SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES to Brachydactyly, type B2 (MIM#611377); Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
Fetal anomalies v0.1245 NKX3-2 Zornitza Stark Marked gene: NKX3-2 as ready
Fetal anomalies v0.1243 GCDH Zornitza Stark Marked gene: GCDH as ready
Fetal anomalies v0.1243 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from GLUTARICACIDEMIA TYPE 1 to Glutaric aciduria, type I MIM#231670
Fetal anomalies v0.1241 FOXE1 Ain Roesley reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850, MONDO:0009437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 FOXF1 Ain Roesley reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23505205; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FOXG1 Ain Roesley reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28661489; Phenotypes: Rett syndrome, congenital variant MIM#613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1241 FOXRED1 Ain Roesley reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1241 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Fetal anomalies v0.1240 SMAD2 Zornitza Stark edited their review of gene: SMAD2: Changed phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Fetal anomalies v0.1240 NPR2 Daniel Flanagan reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15146390, 31990356, 30602027, 24001744, 24057292; Phenotypes: Acromesomelic dysplasia 1, Maroteaux type (MIM#602875), Epiphyseal chondrodysplasia, Miura type (MIM#615923), Short stature with nonspecific skeletal abnormalities (MIM#616255); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1240 GALK1 Ain Roesley reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: 27604308, 5129682; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GALNS Ain Roesley reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 GATA4 Ain Roesley reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12845333, 18055909, 15689439, 33413087, 30455927; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1240 GCDH Ain Roesley reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536184; Phenotypes: Glutaricaciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1240 NOG Daniel Flanagan reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 (MIM#611377), Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1240 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Fetal anomalies v0.1240 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from Leukoencephalopathy with vanishing white matter, 603896 to Leukoencephalopathy with vanishing white matter, MIM#603896; congenital cataract
Fetal anomalies v0.1238 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Fetal anomalies v0.1235 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Fetal anomalies v0.1232 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Fetal anomalies v0.1230 CHRNB2 Zornitza Stark Marked gene: CHRNB2 as ready
Fetal anomalies v0.1226 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Fetal anomalies v0.1223 CHRNA3 Zornitza Stark Marked gene: CHRNA3 as ready
Fetal anomalies v0.1223 CHRNA3 Zornitza Stark Phenotypes for gene: CHRNA3 were changed from Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
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 v0.1220 CHRNA3 Zornitza Stark reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31708116; Phenotypes: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1220 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
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 Marked gene: CHMP1A as ready
Fetal anomalies v0.1215 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Fetal anomalies v0.1211 CHD3 Zornitza Stark Marked gene: CHD3 as ready
Fetal anomalies v0.1208 CHD3 Zornitza Stark changed review comment from: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.
Sources: Expert list; to: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene.

Macrocephaly in most individuals, otherwise no significant association with congenital anomalies.
Sources: Expert list
Fetal anomalies v0.1208 CFL2 Zornitza Stark Marked gene: CFL2 as ready
Fetal anomalies v0.1206 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Fetal anomalies v0.1203 CEP63 Zornitza Stark Marked gene: CEP63 as ready
Fetal anomalies v0.1201 CEP55 Zornitza Stark Marked gene: CEP55 as ready
Fetal anomalies v0.1199 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Fetal anomalies v0.1199 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849 to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849; Microcephalic primordial dwarfism
Fetal anomalies v0.1196 CENPF Zornitza Stark Marked gene: CENPF as ready
Fetal anomalies v0.1193 CELSR1 Zornitza Stark Marked gene: CELSR1 as ready
Fetal anomalies v0.1189 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Fetal anomalies v0.1187 CD96 Zornitza Stark Marked gene: CD96 as ready
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 v0.1183 CD151 Zornitza Stark Marked gene: CD151 as ready
Fetal anomalies v0.1180 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Fetal anomalies v0.1178 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Fetal anomalies v0.1176 CCDC8 Zornitza Stark changed review comment from: Intellect typically normal; to: 5 unrelated individuals described with the condition; two different homozygous variants described in three individuals. IUGR.
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Marked gene: CCDC78 as ready
Fetal anomalies v0.1176 CCDC78 Zornitza Stark Phenotypes for gene: CCDC78 were changed from CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES to Centronuclear myopathy 4, MIM#614807
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 v0.1172 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Fetal anomalies v0.1169 CCDC151 Zornitza Stark Marked gene: CCDC151 as ready
Fetal anomalies v0.1167 CASR Zornitza Stark Marked gene: CASR as ready
Fetal anomalies v0.1167 CASR Zornitza Stark Phenotypes for gene: CASR were changed from Hypocalciuric hypercalcemia, type I, 145980; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; Hypocalcemia, autosomal dominant, 601198; Hyperparathyroidism, neonatal, 239200 to Hyperparathyroidism, neonatal, MIM# 239200
Fetal anomalies v0.1165 CASR Zornitza Stark reviewed gene: CASR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1165 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Fetal anomalies v0.1165 CARS2 Zornitza Stark Gene: cars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1165 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from Epileptic encephalopathy with complex movement disorder and regression to Combined oxidative phosphorylation deficiency 27, MIM#616672
Fetal anomalies v0.1164 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Fetal anomalies v0.1163 CARS2 Zornitza Stark Classified gene: CARS2 as Red List (low evidence)
Fetal anomalies v0.1163 CARS2 Zornitza Stark Gene: cars2 has been classified as Red List (Low Evidence).
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 v0.1162 CARS2 Zornitza Stark edited their review of gene: CARS2: Changed rating: RED
Fetal anomalies v0.1162 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Fetal anomalies v0.1160 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Fetal anomalies v0.1156 CAMTA1 Zornitza Stark changed review comment from: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.; to: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.

Congenital anomalies are not a feature, clinical presentation is typically post-natal.
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Marked gene: CAMK2B as ready
Fetal anomalies v0.1156 CAMK2B Zornitza Stark Phenotypes for gene: CAMK2B were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 54, MIM# 617799
Fetal anomalies v0.1154 CAMK2B Zornitza Stark changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported. One with significant microcephaly, otherwise congenital anomalies are not specifically reported.
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Fetal anomalies v0.1154 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Fetal anomalies v0.1150 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: RED; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1150 CACNA1G Zornitza Stark Marked gene: CACNA1G as ready
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Fetal anomalies v0.1147 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Fetal anomalies v0.1142 CACNA1D Zornitza Stark changed review comment from: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions.; to: De novo GoF missense variants reported with a spectrum of neurodevelopmental conditions, cardiac defects and cardiomyopathy.
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Fetal anomalies v0.1142 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from EPILEPTIC ENCEPHALOPATHY to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086
Fetal anomalies v0.1139 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1139 CA5A Zornitza Stark Marked gene: CA5A as ready
Fetal anomalies v0.1139 CA5A Zornitza Stark Phenotypes for gene: CA5A were changed from HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Fetal anomalies v0.1136 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Fetal anomalies v0.1133 C21orf59 Zornitza Stark Marked gene: C21orf59 as ready
Fetal anomalies v0.1131 C21orf59 Zornitza Stark changed review comment from: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population; to: Comment when marking as ready: p.Tyr245* recurring in the Ashkenazi Jewish population.

Laterality defects in about half.
Fetal anomalies v0.1131 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Fetal anomalies v0.1131 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy to Combined oxidative phosphorylation deficiency 33, MIM# 617713; severe neonatal cardiomyopathy
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 v0.1128 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Fetal anomalies v0.1126 C12orf57 Zornitza Stark changed review comment from: Ocular coloboma is part of the phenotype.
Sources: Expert list; to: Talipes and hip dislocation are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.1126 BPTF Zornitza Stark Marked gene: BPTF as ready
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 v0.1123 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Fetal anomalies v0.1121 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Fetal anomalies v0.1121 BNC2 Zornitza Stark Phenotypes for gene: BNC2 were changed from Lower urinary tract obstruction, congenital, 618612 to Lower urinary tract obstruction, congenital, MIM #618612
Fetal anomalies v0.1117 BNC2 Zornitza Stark reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31656805, 31051115; Phenotypes: Lower urinary tract obstruction, congenital, MIM #618612; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1117 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Fetal anomalies v0.1114 BLOC1S6 Zornitza Stark changed review comment from: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.

Presentation for HPS in general is post-natal.; to: Same homozygous variant identified in two individuals with HPS, however, note that one of the articles has been retracted due to some of the data having been falsified. Another individual reported in 32245340 but pigmentary and platelet abnormalities only.

Presentation of HPS in general is post-natal.
Fetal anomalies v0.1114 BCL9L Zornitza Stark Marked gene: BCL9L as ready
Fetal anomalies v0.1114 BCL9L Zornitza Stark Phenotypes for gene: BCL9L were changed from Heterotaxy to Heterotaxy; Congenital Heart Disease
Fetal anomalies v0.1112 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Fetal anomalies v0.1109 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Fetal anomalies v0.1108 WLS Zornitza Stark Marked gene: WLS as ready
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 Marked gene: B9D1 as ready
Fetal anomalies v0.1104 B9D1 Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.; to: PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.
Fetal anomalies v0.1104 B9D1 Zornitza Stark changed review comment from: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant i dont see the results are usable PMID: 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant Summary: 2 unrelated patients, AMBER; to: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome patients found (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckell syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP.
Fetal anomalies v0.1104 B9D1 Zornitza Stark edited their review of gene: B9D1: Added comment: 3 unrelated cases with a syndromic phenotype and a supporting null mouse model
PMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort)
PMID: 24886560 - 2 Joubert syndrome cases
PMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.; Changed rating: GREEN
Fetal anomalies v0.1104 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Marked gene: B3GALNT2 as ready
Fetal anomalies v0.1102 B3GALNT2 Zornitza Stark Phenotypes for gene: B3GALNT2 were changed from 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 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071
Fetal anomalies v0.1099 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Fetal anomalies v0.1099 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from ABCD SYNDROME to Waardenburg syndrome, type 4A, MIM#277580; ABCD syndrome, MIM# 600501
Fetal anomalies v0.1097 EDNRB Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: Well established gene-disease association. Hirschsprung's disease and decreased myenteric and submucosal ganglia in the bowel.
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Marked gene: ECEL1 as ready
Fetal anomalies v0.1097 ECEL1 Zornitza Stark Phenotypes for gene: ECEL1 were changed from DISTAL ARTHROGRYPOSIS TYPE 5D to Arthrogryposis, distal, type 5D, MIM# 615065
Fetal anomalies v0.1095 EBP Zornitza Stark Marked gene: EBP as ready
Fetal anomalies v0.1094 EBF3 Zornitza Stark Marked gene: EBF3 as ready
Fetal anomalies v0.1091 EBF3 Zornitza Stark changed review comment from: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia.; to: Twenty unrelated families reported with mono-allelic variants in this gene and HADDS, a neurodevelopmental syndrome characterised by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Microcephaly also reported.
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Fetal anomalies v0.1091 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 to Mental retardation, autosomal dominant 7, MIM# 614104
Fetal anomalies v0.1088 DYRK1A Zornitza Stark reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398; Phenotypes: Mental retardation, autosomal dominant 7, MIM# 614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1088 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Fetal anomalies v0.1086 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD; SEVERE ID WITH NEURONAL MIGRATION DISORDER to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228; Mental retardation, autosomal dominant 13, MIM# 614563; Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600
Fetal anomalies v0.1083 DYM Zornitza Stark Marked gene: DYM as ready
Fetal anomalies v0.1081 DYM Zornitza Stark changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease.

The two conditions likely represent a spectrum rather than two distinct disorders.
Fetal anomalies v0.1081 DYM Zornitza Stark changed review comment from: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests; to: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.
Fetal anomalies v0.1081 DYM Zornitza Stark commented on gene: DYM: Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests
Fetal anomalies v0.1081 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Fetal anomalies v0.1079 DPM1 Zornitza Stark changed review comment from: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.

PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic

PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.; to: PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.

PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic

PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.

Contractures also reported.
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Fetal anomalies v0.1079 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; DPAGT1-CDG to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark changed review comment from: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.; to: Type I CDG. More than 20 unrelated families reported. Most affected individuals have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties.

Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 is a milder allelic disorder. More than 5 unrelated families reported with this presentation.
Fetal anomalies v0.1077 DPAGT1 Zornitza Stark edited their review of gene: DPAGT1: Changed publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111, 22742743, 29356258, 28712839, 28662078; Changed phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
Fetal anomalies v0.1076 DOLK Zornitza Stark Marked gene: DOLK as ready
Fetal anomalies v0.1072 DOLK Zornitza Stark edited their review of gene: DOLK: Added comment: Microcephaly is acquired, and DCM described in early childhood. Typical presentation is with seizures and hypotonia.; Changed rating: AMBER
Fetal anomalies v0.1072 DOK7 Zornitza Stark Marked gene: DOK7 as ready
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 v0.1069 DOCK6 Zornitza Stark changed review comment from: Variable brain involvement, including ID. Transverse limb defects.; to: Variable brain involvement, including ID. Transverse limb defects.

More than 10 unrelated families reported.
Fetal anomalies v0.1069 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Fetal anomalies v0.1068 DOCK6 Zornitza Stark changed review comment from: Variable brain involvement, including ID.; to: Variable brain involvement, including ID. Transverse limb defects.
Fetal anomalies v0.1068 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Fetal anomalies v0.1065 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia 244400 to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Fetal anomalies v0.1063 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from Motile Cilia Defects and Situs Inversus to Ciliary dyskinesia, primary, 40, MIM# 618300
Fetal anomalies v0.1062 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Fetal anomalies v0.1062 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Heterotaxy
Fetal anomalies v0.1060 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Fetal anomalies v0.1058 NEK10 Zornitza Stark Marked gene: NEK10 as ready
Fetal anomalies v0.1057 GFAP Zornitza Stark Marked gene: GFAP as ready
Fetal anomalies v0.1053 NFIX Zornitza Stark Marked gene: NFIX as ready
Fetal anomalies v0.1053 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from SOTOS-LIKE SYNDROME; MARSHALL-SMITH SYNDROME to Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535
Fetal anomalies v0.1051 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marshall-Smith syndrome, MIM# 602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1051 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Fetal anomalies v0.1049 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Fetal anomalies v0.1047 NECTIN4 Zornitza Stark Marked gene: NECTIN4 as ready
Fetal anomalies v0.1044 GJA3 Zornitza Stark reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1044 WNT4 Zornitza Stark Marked gene: WNT4 as ready
Fetal anomalies v0.1042 WWOX Zornitza Stark Marked gene: WWOX as ready
Fetal anomalies v0.1042 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 to Developmental and epileptic encephalopathy 28, MIM# 616211
Fetal anomalies v0.1039 ZNF750 Zornitza Stark Marked gene: ZNF750 as ready
Fetal anomalies v0.1036 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Fetal anomalies v0.1035 MCIDAS Zornitza Stark Marked gene: MCIDAS as ready
Fetal anomalies v0.1034 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Fetal anomalies v0.1033 GDF6 Zornitza Stark Mode of pathogenicity for gene: GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.1032 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Fetal anomalies v0.1032 GLA Zornitza Stark Marked gene: GLA as ready
Fetal anomalies v0.1032 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2 to Leukodystrophy, hypomyelinating, 2 MIM#608804
Fetal anomalies v0.1029 GJA3 Seb Lunke Marked gene: GJA3 as ready
Fetal anomalies v0.1029 GJA3 Seb Lunke Phenotypes for gene: GJA3 were changed from CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 to Cataract 14, multiple types MIM#601885
Fetal anomalies v0.1026 EPHB4 Seb Lunke Marked gene: EPHB4 as ready
Fetal anomalies v0.1026 EPHB4 Seb Lunke Phenotypes for gene: EPHB4 were changed from hydrops fetalis gene to Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD; Lymphatic malformation 7 (MIM#617300), AD; hydrops fetalis
Fetal anomalies v0.1023 DNAJB13 Zornitza Stark Marked gene: DNAJB13 as ready
Fetal anomalies v0.1021 GAS2L2 Seb Lunke Marked gene: GAS2L2 as ready
Fetal anomalies v0.1020 NBAS Seb Lunke Marked gene: NBAS as ready
Fetal anomalies v0.1017 DNAH8 Seb Lunke Marked gene: DNAH8 as ready
Fetal anomalies v0.1017 DNAH8 Seb Lunke Phenotypes for gene: DNAH8 were changed from Spermatogenic failure 46 - OMIM# 619095; primary ciliary dyskinesia to primary ciliary dyskinesia
Fetal anomalies v0.1016 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Fetal anomalies v0.1016 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from GM1-GANGLIOSIDOSIS TYPE 1; GM1-GANGLIOSIDOSIS TYPE 2; GM1-GANGLIOSIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS TYPE 4B to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Fetal anomalies v0.1014 DNAH6 Zornitza Stark Marked gene: DNAH6 as ready
Fetal anomalies v0.1012 DNAH1 Seb Lunke Marked gene: DNAH1 as ready
Fetal anomalies v0.1012 DNAH1 Seb Lunke Phenotypes for gene: DNAH1 were changed from Situs inversus; primary ciliary dyskinesia; infertility to Situs inversus; primary ciliary dyskinesia, MIM#617577; infertility, MIM#617576
Fetal anomalies v0.1009 GLDC Zornitza Stark Marked gene: GLDC as ready
Fetal anomalies v0.1008 GLI2 Seb Lunke Marked gene: GLI2 as ready
Fetal anomalies v0.1003 EP300 Zornitza Stark Marked gene: EP300 as ready
Fetal anomalies v0.1000 CFAP57 Zornitza Stark Marked gene: CFAP57 as ready
Fetal anomalies v0.1000 NANS Zornitza Stark Marked gene: NANS as ready
Fetal anomalies v0.998 NALCN Seb Lunke Marked gene: NALCN as ready
Fetal anomalies v0.998 NALCN Seb Lunke Phenotypes for gene: NALCN were changed from HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY to Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266); Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Fetal anomalies v0.995 NAGA Seb Lunke Marked gene: NAGA as ready
Fetal anomalies v0.995 CFAP43 Seb Lunke Marked gene: CFAP43 as ready
Fetal anomalies v0.994 GNAI3 Zornitza Stark Marked gene: GNAI3 as ready
Fetal anomalies v0.994 GNAI3 Zornitza Stark Phenotypes for gene: GNAI3 were changed from AURICULOCONDYLAR SYNDROME to Auriculocondylar syndrome 1, OMIM #602483
Fetal anomalies v0.992 GLUL Zornitza Stark Marked gene: GLUL as ready
Fetal anomalies v0.986 BRWD1 Zornitza Stark Marked gene: BRWD1 as ready
Fetal anomalies v0.985 BRWD1 Zornitza Stark reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: None
Fetal anomalies v0.984 GNPAT Zornitza Stark Marked gene: GNPAT as ready
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 v0.982 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Fetal anomalies v0.982 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from MAY-HEGGLIN ANOMALY; FECHTNER SYNDROME; EPSTEIN SYNDROME; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS; SEBASTIAN SYNDROME; DEAFNESS AUTOSOMAL DOMINANT TYPE 17 to Deafness, autosomal dominant 17 (MIM#603622); Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MIM#155100)
Fetal anomalies v0.979 BCAS3 Zornitza Stark Marked gene: BCAS3 as ready
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 Marked gene: ATR as ready
Fetal anomalies v0.975 ATP6V1B2 Zornitza Stark Marked gene: ATP6V1B2 as ready
Fetal anomalies v0.971 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Fetal anomalies v0.968 GDF6 Ain Roesley reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30733656, 29130651, 26643732; Phenotypes: Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.968 ASXL2 Zornitza Stark Marked gene: ASXL2 as ready
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 Marked gene: ASPH as ready
Fetal anomalies v0.964 ARID2 Zornitza Stark Marked gene: ARID2 as ready
Fetal anomalies v0.964 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Fetal anomalies v0.964 ARID2 Zornitza Stark Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder to Coffin-Siris syndrome 6, MIM# 617808
Fetal anomalies v0.963 ARID2 Zornitza Stark Publications for gene: ARID2 were set to
Fetal anomalies v0.962 ARID2 Zornitza Stark Mode of inheritance for gene: ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.961 ARID2 Zornitza Stark Classified gene: ARID2 as Green List (high evidence)
Fetal anomalies v0.961 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Fetal anomalies v0.960 ARHGAP29 Zornitza Stark Marked gene: ARHGAP29 as ready
Fetal anomalies v0.960 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Fetal anomalies v0.960 ARHGAP29 Zornitza Stark Publications for gene: ARHGAP29 were set to
Fetal anomalies v0.959 ARHGAP29 Zornitza Stark Mode of inheritance for gene: ARHGAP29 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.958 ARHGAP29 Zornitza Stark Classified gene: ARHGAP29 as Green List (high evidence)
Fetal anomalies v0.958 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Fetal anomalies v0.957 ARHGAP29 Zornitza Stark reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 27350171, 23008150; Phenotypes: Cleft palate, cleft lip; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.957 NFIX Daniel Flanagan changed review comment from: Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present.

Well established gene-disease association.

Marshall-Smith syndrome is allelic. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype (Malan syndrome). Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. Atrial septal defect; to: Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present.

Well established gene-disease association.

Marshall-Smith syndrome is allelic. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype (Malan syndrome). Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome.
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 GJA3 Ain Roesley reviewed gene: GJA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 EPHB4 Belinda Chong reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.957 GJC2 Ain Roesley reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
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 BRWD1 Krithika Murali reviewed gene: BRWD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33389130; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 GLB1 Ain Roesley reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
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 NALCN Daniel Flanagan reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120, 23749988, 24075186; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266), Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.957 GNAI3 Ain Roesley reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091; Phenotypes: Auriculocondylar syndrome 1, OMIM #602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
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 Marked gene: ARFGEF2 as ready
Fetal anomalies v0.957 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.957 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Fetal anomalies v0.956 ARFGEF2 Zornitza Stark Classified gene: ARFGEF2 as Green List (high evidence)
Fetal anomalies v0.956 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Fetal anomalies v0.955 ARFGEF2 Zornitza Stark reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.955 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Fetal anomalies v0.955 AP4S1 Zornitza Stark Phenotypes for gene: AP4S1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 to Spastic paraplegia 52, autosomal recessive, MIM# 614067
Fetal anomalies v0.952 AP4S1 Zornitza Stark changed review comment from: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 families reported and a zebrafish model.; to: Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe ID with poor or absent speech development. More than 10 families reported and a zebrafish model.

Microcephaly is a feature.
Fetal anomalies v0.952 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Fetal anomalies v0.952 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Fetal anomalies v0.949 AP4M1 Zornitza Stark changed review comment from: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.; to: Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Fetal anomalies v0.949 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Fetal anomalies v0.946 AP4B1 Zornitza Stark changed review comment from: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.; to: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Fetal anomalies v0.946 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
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 v0.944 MYH9 Daniel Flanagan reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: None; Publications: 9390828, 24890873, 17146397, 25505834, 16630581, 16162639, 23976996, 21908426; Phenotypes: Deafness, autosomal dominant 17 (MIM#603622), Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MIM#155100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.944 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Fetal anomalies v0.942 ANKS6 Zornitza Stark Marked gene: ANKS6 as ready
Fetal anomalies v0.939 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Fetal anomalies v0.935 GNB1 Zornitza Stark Marked gene: GNB1 as ready
Fetal anomalies v0.935 GNB1 Zornitza Stark Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855 to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973; intellectual disability, autosomal dominant 42 MONDO:0014855
Fetal anomalies v0.932 GNB1 Zornitza Stark changed review comment from: Over 50 individuals reported with de novo variants in this gene. Developmental delay is moderate to severe, and more than half of patients reported in a recent series were non-ambulatory and nonverbal. The most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.; to: Over 50 individuals reported with de novo variants in this gene. Developmental delay is moderate to severe, and more than half of patients reported in a recent series were non-ambulatory and nonverbal. The most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.

Multiple congenital anomalies, including cleft palate, congenital heart disease and craniosynostosis reported.
Fetal anomalies v0.932 GDF11 Zornitza Stark Marked gene: GDF11 as ready
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 v0.930 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Fetal anomalies v0.927 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Fetal anomalies v0.926 TMEM260 Zornitza Stark changed review comment from: Two families reported; predominant phenotype is that of complex severe congenital heart disease and renal anomalies. Although corpus callosum abnormalities/microcephaly were described in some, DD/ID not specifically reported.; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Fetal anomalies v0.926 CDK8 Zornitza Stark Marked gene: CDK8 as ready
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 v0.924 CSF1R Zornitza Stark Marked gene: CSF1R as ready
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 v0.922 POLR1B Zornitza Stark Marked gene: POLR1B as ready
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 v0.920 EIF5A Zornitza Stark Marked gene: EIF5A as ready
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 v0.918 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Fetal anomalies v0.916 PRRX1 Zornitza Stark Marked gene: PRRX1 as ready
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 v0.914 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Fetal anomalies v0.914 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from Glycine Encephalopathy with Arthrogryposis to Glycine encephalopathy with normal serum glycine 617301; Arthrogryposis
Fetal anomalies v0.911 SLC6A9 Zornitza Stark commented on gene: SLC6A9: Dempsey et al 2020 (PMID: 31875334) report a fetus with persistently raised NT, hyperextended legs, unilateral talipes. Flexed arms. Small stomach. Consanguineous family. Other reports of SLC6A9 causing arthrogryposis multiplex congenita (presenting prenatally) include: Kurolap et al 2016, PMID: 27773429 (2 families); Hauf et al 2020, PMID: 32712301 (1 family); Mademont-Soler et al 2021, PMID: 33269555 (1 family)
Fetal anomalies v0.911 SLC6A9 Zornitza Stark edited their review of gene: SLC6A9: Changed publications: 27773429, 27481395, 31875334, 32712301, 33269555; Changed phenotypes: Glycine encephalopathy with normal serum glycine 617301, Arthrogryposis
Fetal anomalies v0.911 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Fetal anomalies v0.911 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Fetal anomalies v0.911 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from COFFIN SIRIS to Coffin-Siris syndrome 5, MIM# 616938
Fetal anomalies v0.910 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Fetal anomalies v0.909 SMARCE1 Zornitza Stark Classified gene: SMARCE1 as Green List (high evidence)
Fetal anomalies v0.909 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Fetal anomalies v0.908 SMARCE1 Zornitza Stark edited their review of gene: SMARCE1: Changed publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215
Fetal anomalies v0.908 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.908 KIDINS220 Zornitza Stark Marked gene: KIDINS220 as ready
Fetal anomalies v0.906 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Fetal anomalies v0.906 TAB2 Zornitza Stark Phenotypes for gene: TAB2 were changed from CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Fetal anomalies v0.903 TAB2 Zornitza Stark reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.902 ZFPM2 Zornitza Stark Marked gene: ZFPM2 as ready
Fetal anomalies v0.901 SLIT3 Zornitza Stark Marked gene: SLIT3 as ready
Fetal anomalies v0.900 TRIM71 Zornitza Stark Marked gene: TRIM71 as ready
Fetal anomalies v0.899 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Fetal anomalies v0.898 RNF125 Zornitza Stark Marked gene: RNF125 as ready
Fetal anomalies v0.896 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Fetal anomalies v0.895 KIF4A Zornitza Stark Marked gene: KIF4A as ready
Fetal anomalies v0.893 ISLR2 Zornitza Stark Marked gene: ISLR2 as ready
Fetal anomalies v0.892 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Fetal anomalies v0.891 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Fetal anomalies v0.890 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Fetal anomalies v0.889 ATP11A Zornitza Stark Marked gene: ATP11A as ready
Fetal anomalies v0.888 PLS3 Zornitza Stark Marked gene: PLS3 as ready
Fetal anomalies v0.887 MMP9 Zornitza Stark Marked gene: MMP9 as ready
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 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 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 v0.886 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Fetal anomalies v0.886 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Fetal anomalies v0.883 CLCNKB Zornitza Stark changed review comment from: Some evidence for digenic inheritance with CLCNKA, but also just AR inheritance. ID described in digenic inheritance.; to: Some evidence for digenic inheritance with CLCNKA, but also just AR inheritance.

Can present antenatally with polyhydramnios
Fetal anomalies v0.883 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Fetal anomalies v0.883 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia 611884 to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Fetal anomalies v0.881 DNAAF4 Zornitza Stark Marked gene: DNAAF4 as ready
Fetal anomalies v0.881 DNAAF4 Zornitza Stark Phenotypes for gene: DNAAF4 were changed from PRIMARY CILIARY DYSPLASIA to Ciliary dyskinesia, primary, 25, MIM# 615482
Fetal anomalies v0.879 DNAAF3 Zornitza Stark Marked gene: DNAAF3 as ready
Fetal anomalies v0.879 DNAAF3 Zornitza Stark Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763 to Ciliary dyskinesia, primary, 2, MIM# 606763
Fetal anomalies v0.877 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Fetal anomalies v0.877 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from Primary ciliary dyskinesia 613193 to Ciliary dyskinesia, primary, 13, MIM# 613193
Fetal anomalies v0.875 DMPK Zornitza Stark Marked gene: DMPK as ready
Fetal anomalies v0.872 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Fetal anomalies v0.870 DLL3 Zornitza Stark changed review comment from: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.

; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.

More than 10 unrelated families reported, well established gene-disease association.
Fetal anomalies v0.870 DLL3 Zornitza Stark changed review comment from: Single case report where CDH was observed in addition to the skeletal abnormalities, predates gene identification.; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.
Fetal anomalies v0.870 DHFR Zornitza Stark Marked gene: DHFR as ready
Fetal anomalies v0.867 DHFR Zornitza Stark changed review comment from: Three unrelated families reported, neurological disease in some severe, others predominantly haematological presentation.; to: Three unrelated families reported, neurological disease in some severe, others predominantly haematological presentation. Earliest presentation was post-natal with acquired microcephaly.
Fetal anomalies v0.867 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Fetal anomalies v0.865 SMAD2 Zornitza Stark Marked gene: SMAD2 as ready
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 v0.863 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Fetal anomalies v0.861 DHCR24 Zornitza Stark changed review comment from: At least 4 families reported where contractures are a feature of the condition.
Sources: Expert list; to: At least 4 families reported where contractures are a feature of the condition. Other congenital anomalies reported as well.

Sources: Expert list
Fetal anomalies v0.861 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Fetal anomalies v0.861 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from WARSAW BREAKAGE SYNDROME to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Fetal anomalies v0.859 EMD Zornitza Stark Marked gene: EMD as ready
Fetal anomalies v0.857 EMD Zornitza Stark reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: 20301609; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.857 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Fetal anomalies v0.857 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from Mosaic Variegated Aneuploidy and Wilms Tumour to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Fetal anomalies v0.855 EMD Belinda Chong reviewed gene: EMD: Rating: ; Mode of pathogenicity: None; Publications: 21697856, 31802929; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked 310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.855 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Fetal anomalies v0.855 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY to Combined oxidative phosphorylation deficiency 23 MIM#616198
Fetal anomalies v0.853 GRIP1 Zornitza Stark Marked gene: GRIP1 as ready
Fetal anomalies v0.851 GRHL3 Zornitza Stark Marked gene: GRHL3 as ready
Fetal anomalies v0.848 GNS Zornitza Stark Marked gene: GNS as ready
Fetal anomalies v0.848 GNS Zornitza Stark Phenotypes for gene: GNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 3D to Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658
Fetal anomalies v0.846 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Fetal anomalies v0.844 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Fetal anomalies v0.842 AMMECR1 Zornitza Stark reviewed gene: AMMECR1: Rating: RED; Mode of pathogenicity: None; Publications: 27811305, 28089922, 29193635; Phenotypes: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.842 AMBRA1 Zornitza Stark Marked gene: AMBRA1 as ready
Fetal anomalies v0.841 AMACR Zornitza Stark Marked gene: AMACR as ready
Fetal anomalies v0.838 ALOXE3 Zornitza Stark Marked gene: ALOXE3 as ready
Fetal anomalies v0.836 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Fetal anomalies v0.834 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Fetal anomalies v0.834 ALG9 Zornitza Stark Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210; ALG9-CDG; hydops fetalis; AR lethal skeletal dysplasia; NIHF to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Fetal anomalies v0.832 ALG9 Zornitza Stark changed review comment from: 11 patients from 7 families reported. DD/ID is part of the phenotype.; to: Bi-allelic variants and CDG: At least 7 unrelated families reported, 11 individuals. Clinical features include failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; three patients died in utero from a lethal skeletal dysplasia. The severe end of the spectrum is referred to as Gillessen-Kaesbach-Nishimura syndrome and is characterised by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life.
Fetal anomalies v0.832 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Fetal anomalies v0.832 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from ALG2-CDG to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
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 v0.829 ALG13 Zornitza Stark Marked gene: ALG13 as ready
Fetal anomalies v0.827 ALG13 Zornitza Stark changed review comment from: More than 10 families reported.; to: More than 10 families reported. Typical presentation is with refractory seizures at around 6 months of age and developmental delay.

Majority of affected individuals have been females. Microcephaly reported in a male patient.
Fetal anomalies v0.827 ALG11 Zornitza Stark Marked gene: ALG11 as ready
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 v0.826 MAPKAPK5 Zornitza Stark Marked gene: MAPKAPK5 as ready
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 Marked gene: NADSYN1 as ready
Fetal anomalies v0.823 GNS Ain Roesley reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12573255, 12624138, 31536183, 25851924; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.822 NADSYN1 Zornitza Stark reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31883644; Phenotypes: Multiple congenital abnormalities, absent kidneys, cardiac, limb, vertebral; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.822 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Fetal anomalies v0.822 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR
Fetal anomalies v0.820 DDR2 Zornitza Stark edited their review of gene: DDR2: Changed rating: GREEN; Changed publications: 19110212, 20223752; Changed phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.820 DCX Zornitza Stark Marked gene: DCX as ready
Fetal anomalies v0.818 DCX Zornitza Stark changed review comment from: Well established gene-disease association.; to: DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome. Multiple affected families reported.
Fetal anomalies v0.818 DCX Zornitza Stark changed review comment from: Contractures are secondary to tone abnormalities, and are not a prominent/key feature.; to: Well established gene-disease association.
Fetal anomalies v0.818 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Fetal anomalies v0.816 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
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 v0.813 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Fetal anomalies v0.812 AHCY Zornitza Stark Marked gene: AHCY as ready
Fetal anomalies v0.811 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Fetal anomalies v0.807 ADAMTS3 Zornitza Stark Marked gene: ADAMTS3 as ready
Fetal anomalies v0.805 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, MIM# 135100 to Fibrodysplasia ossificans progressiva, MIM# 135100; Congenital heart disease
Fetal anomalies v0.803 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Fetal anomalies v0.803 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Fetal anomalies v0.799 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Fetal anomalies v0.799 ELOVL4 Zornitza Stark Phenotypes for gene: ELOVL4 were changed from ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION to Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457
Fetal anomalies v0.797 ELOVL4 Zornitza Stark reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.797 MYH8 Zornitza Stark Marked gene: MYH8 as ready
Fetal anomalies v0.797 MYH8 Zornitza Stark Phenotypes for gene: MYH8 were changed from CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE to Trismus-pseudocamptodactyly syndrome (MIM#158300)
Fetal anomalies v0.794 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Fetal anomalies v0.790 MYH10 Zornitza Stark Marked gene: MYH10 as ready
Fetal anomalies v0.787 MYCN Zornitza Stark Marked gene: MYCN as ready
Fetal anomalies v0.784 MSX2 Zornitza Stark Marked gene: MSX2 as ready
Fetal anomalies v0.784 MSX2 Zornitza Stark Phenotypes for gene: MSX2 were changed from ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM; CRANIOSYNOSTOSIS, TYPE 2 to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)
Fetal anomalies v0.781 MSX1 Zornitza Stark Marked gene: MSX1 as ready
Fetal anomalies v0.778 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Fetal anomalies v0.776 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
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 v0.774 ELOVL4 Belinda Chong reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24566826, 26258735, 30065956, 22100072, 24571530, 33652762, 10634627, 8002834; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457, Spinocerebellar ataxia 34 MIM#133190, Stargardt disease 3 MIM#600110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.774 ACSL4 Zornitza Stark Marked gene: ACSL4 as ready
Fetal anomalies v0.774 ACSL4 Zornitza Stark Phenotypes for gene: ACSL4 were changed from ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , MIM#300387
Fetal anomalies v0.771 ACSL4 Zornitza Stark changed review comment from: Comment when marking as ready: At least three unrelated individuals reported.; to: Comment when marking as ready: At least three unrelated individuals reported. Microcephaly reported.
Fetal anomalies v0.771 ELN Belinda Chong reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866049 31560829 19844261 19844261; Phenotypes: Cutis laxa 123700, Supravalvar aortic stenosis 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Fetal anomalies v0.771 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Fetal anomalies v0.771 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, MIM# 614559
Fetal anomalies v0.769 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519; Phenotypes: Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.769 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Fetal anomalies v0.766 ABCD4 Zornitza Stark Marked gene: ABCD4 as ready
Fetal anomalies v0.764 ABCD4 Zornitza Stark changed review comment from: Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and hematological abnormalities. Normal neurodevelopmental outcomes with treatment reported.

At least 6 affected individuals reported.; to: Described clinical features include feeding difficulties, failure to thrive, hypotonia, seizures, developmental delay, and haematological abnormalities. Normal neurodevelopmental outcomes with treatment reported.

At least 6 affected individuals reported.

Congenital anomalies are very rarely reported, uncertain if they are part of the phenotype.
Fetal anomalies v0.764 AASS Zornitza Stark Marked gene: AASS as ready
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 Tag new gene name tag was added to gene: AARS.
Fetal anomalies v0.763 AARS Zornitza Stark Marked gene: AARS as ready
Fetal anomalies v0.763 AARS Zornitza Stark Gene: aars has been classified as Green List (High Evidence).
Fetal anomalies v0.763 AARS Zornitza Stark Publications for gene: AARS were set to
Fetal anomalies v0.762 AARS Zornitza Stark Classified gene: AARS as Green List (high evidence)
Fetal anomalies v0.762 AARS Zornitza Stark Gene: aars has been classified as Green List (High Evidence).
Fetal anomalies v0.761 MSX2 Daniel Flanagan reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.761 DARS Zornitza Stark Marked gene: DARS as ready
Fetal anomalies v0.761 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Fetal anomalies v0.761 DARS Zornitza Stark Phenotypes for gene: DARS were changed from HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Fetal anomalies v0.760 DARS Zornitza Stark Publications for gene: DARS were set to
Fetal anomalies v0.759 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Fetal anomalies v0.759 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Fetal anomalies v0.759 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Fetal anomalies v0.756 DAG1 Zornitza Stark reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25934851, 24052401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.756 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Fetal anomalies v0.756 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from HEREDITARY SPASTIC PARAPLEGIA to Spastic paraplegia 56, autosomal recessive, MIM#615030
Fetal anomalies v0.754 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Fetal anomalies v0.753 CYP1B1 Zornitza Stark Marked gene: CYP1B1 as ready
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 v0.750 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 v0.750 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Fetal anomalies v0.748 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Fetal anomalies v0.745 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Fetal anomalies v0.743 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.743 CWC27 Zornitza Stark Marked gene: CWC27 as ready
Fetal anomalies v0.741 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Fetal anomalies v0.739 PPIB Zornitza Stark Marked gene: PPIB as ready
Fetal anomalies v0.737 PPIB Naomi Baker changed review comment from: Well established gene-disease association with lethal or severe phenotype.

PMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs.

PMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.; to: Well established gene-disease association with lethal or severe OI phenotype.

PMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs.

PMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.
Fetal anomalies v0.737 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Fetal anomalies v0.737 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY to Combined oxidative phosphorylation deficiency 17, MIM#615440
Fetal anomalies v0.735 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Fetal anomalies v0.735 CUL4B Zornitza Stark Phenotypes for gene: CUL4B were changed from MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354
Fetal anomalies v0.733 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.733 CTSK Zornitza Stark Marked gene: CTSK as ready
Fetal anomalies v0.732 CTSD Zornitza Stark Marked gene: CTSD as ready
Fetal anomalies v0.729 CTSA Zornitza Stark Marked gene: CTSA as ready
Fetal anomalies v0.728 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Fetal anomalies v0.728 CTNNB1 Zornitza Stark Phenotypes for gene: CTNNB1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 to Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075
Fetal anomalies v0.725 CTCF Zornitza Stark Marked gene: CTCF as ready
Fetal anomalies v0.725 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 21 (MIM#615502)
Fetal anomalies v0.723 CTCF Zornitza Stark reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.722 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Fetal anomalies v0.720 CTC1 Zornitza Stark edited their review of gene: CTC1: Added comment: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anaemia and thrombocytopaenia.

Multiple families reported.; Changed rating: GREEN; Changed publications: 22267198
Fetal anomalies v0.720 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Fetal anomalies v0.718 CSNK2A1 Zornitza Stark Marked gene: CSNK2A1 as ready
Fetal anomalies v0.715 CRYGD Zornitza Stark Marked gene: CRYGD as ready
Fetal anomalies v0.715 CRYGD Zornitza Stark Phenotypes for gene: CRYGD were changed from CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3 to Cataract 4, multiple types, MIM# 115700
Fetal anomalies v0.712 CRYGD Zornitza Stark reviewed gene: CRYGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9927684, 10915766, 12676897, 17724170; Phenotypes: Cataract 4, multiple types, MIM# 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.712 CRYGC Zornitza Stark Marked gene: CRYGC as ready
Fetal anomalies v0.712 CRYGC Zornitza Stark Phenotypes for gene: CRYGC were changed from CATARACT AUTOSOMAL DOMINANT to Cataract 2, multiple types, MIM# 604307
Fetal anomalies v0.709 CRYGC Zornitza Stark reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10521291, 10914683, 12011157, 19204787, 22052681; Phenotypes: Cataract 2, multiple types, MIM# 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.709 CRYBB3 Zornitza Stark Marked gene: CRYBB3 as ready
Fetal anomalies v0.709 CRYBB3 Zornitza Stark Phenotypes for gene: CRYBB3 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 to Cataract 22, MIM# 609741
Fetal anomalies v0.706 CRYBB3 Zornitza Stark reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15914629, 23508780, 34356085, 33594837, 33510601; Phenotypes: Cataract 22, MIM# 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Marked gene: CRYBB2 as ready
Fetal anomalies v0.706 CRYBB2 Zornitza Stark Phenotypes for gene: CRYBB2 were changed from CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2 to Cataract 3, multiple types, MIM# 601547
Fetal anomalies v0.703 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.703 CRYBB1 Zornitza Stark Marked gene: CRYBB1 as ready
Fetal anomalies v0.703 CRYBB1 Zornitza Stark Phenotypes for gene: CRYBB1 were changed from CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 to Cataract 17, multiple types, MIM# 611544
Fetal anomalies v0.701 CRYBB1 Zornitza Stark reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12360425, 16110300, 17460281, 21972112; Phenotypes: Cataract 17, multiple types, MIM# 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.701 CRYBA4 Zornitza Stark Marked gene: CRYBA4 as ready
Fetal anomalies v0.701 CRYBA4 Zornitza Stark Phenotypes for gene: CRYBA4 were changed from CATARACT ZONULAR TYPE 2 to Cataract 23, MIM# 610425
Fetal anomalies v0.698 CRYBA4 Zornitza Stark reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.698 CRYBA1 Zornitza Stark Marked gene: CRYBA1 as ready
Fetal anomalies v0.698 CRYBA1 Zornitza Stark Phenotypes for gene: CRYBA1 were changed from CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES to Cataract 10, multiple types, MIM# 600881
Fetal anomalies v0.695 CRYBA1 Zornitza Stark reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9788845, 14598164, 34419537, 33827296, 31488069; Phenotypes: Cataract 10, multiple types, MIM# 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.695 CRYAA Zornitza Stark Marked gene: CRYAA as ready
Fetal anomalies v0.695 CRYAA Zornitza Stark Phenotypes for gene: CRYAA were changed from CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR to Cataract 9, multiple types, MIM# 604219
Fetal anomalies v0.693 CRYAA Zornitza Stark reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467006, 11006246, 16735993, 17724170, 23255486; Phenotypes: Cataract 9, multiple types, MIM# 604219; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.693 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Fetal anomalies v0.691 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
Fetal anomalies v0.689 EDNRA Zornitza Stark Marked gene: EDNRA as ready
Fetal anomalies v0.687 EDA Zornitza Stark Marked gene: EDA as ready
Fetal anomalies v0.684 DVL3 Zornitza Stark Marked gene: DVL3 as ready
Fetal anomalies v0.681 EN1 Zornitza Stark Marked gene: EN1 as ready
Fetal anomalies v0.679 SLC30A5 Zornitza Stark Marked gene: SLC30A5 as ready
Fetal anomalies v0.678 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Fetal anomalies v0.677 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Fetal anomalies v0.675 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Fetal anomalies v0.672 ALPK3 Zornitza Stark Marked gene: ALPK3 as ready
Fetal anomalies v0.671 ZBTB42 Zornitza Stark Marked gene: ZBTB42 as ready
Fetal anomalies v0.669 UNC50 Zornitza Stark Marked gene: UNC50 as ready
Fetal anomalies v0.669 UNC50 Zornitza Stark Phenotypes for gene: UNC50 were changed from to Arthrogryposis multiplex congenita
Fetal anomalies v0.667 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Fetal anomalies v0.667 TOR1AIP1 Zornitza Stark Phenotypes for gene: TOR1AIP1 were changed from ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome
Fetal anomalies v0.665 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Fetal anomalies v0.664 SCYL2 Zornitza Stark Marked gene: SCYL2 as ready
Fetal anomalies v0.663 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Fetal anomalies v0.662 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Fetal anomalies v0.661 MYLPF Zornitza Stark Marked gene: MYLPF as ready
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 v0.660 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Fetal anomalies v0.657 PAX2 Zornitza Stark edited their review of gene: PAX2: Added comment: Microphthalmia and CAKUT are reported features.; Changed rating: GREEN; Changed phenotypes: Papillorenal syndrome, MIM# 120330, Renal coloboma syndrome, MONDO:0007352
Fetal anomalies v0.657 PARN Zornitza Stark Marked gene: PARN as ready
Fetal anomalies v0.657 PARN Zornitza Stark Gene: parn has been classified as Green List (High Evidence).
Fetal anomalies v0.657 PARN Zornitza Stark Phenotypes for gene: PARN were changed from Dyskeratosis congenita, autosomal recessive 6 to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
Fetal anomalies v0.656 PARN Zornitza Stark Publications for gene: PARN were set to
Fetal anomalies v0.655 PARN Zornitza Stark edited their review of gene: PARN: Changed phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.655 PARN Zornitza Stark reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.655 MMP13 Zornitza Stark Marked gene: MMP13 as ready
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 v0.652 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Fetal anomalies v0.649 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Fetal anomalies v0.649 KRIT1 Zornitza Stark Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 to Cavernous malformations of CNS and retina MIM#116860; Cerebral cavernous malformations-1 MIM#116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860
Fetal anomalies v0.645 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Fetal anomalies v0.645 KIF22 Zornitza Stark Marked gene: KIF22 as ready
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 v0.640 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Fetal anomalies v0.640 MMADHC Zornitza Stark Phenotypes for gene: MMADHC were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD to Methylmalonic aciduria, cblD type, variant 2 (MIM#277410), Methylmalonic aciduria and homocystinuria, cblD type (MIM#277410), Methylmalonic aciduria, cblD type, variant 2 (MIM#277410)
Fetal anomalies v0.637 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Fetal anomalies v0.636 KCTD1 Zornitza Stark Marked gene: KCTD1 as ready
Fetal anomalies v0.635 KCTD1 Zornitza Stark Phenotypes for gene: KCTD1 were changed from SCALP-EAR-NIPPLE SYNDROME to Scalp-ear-nipple syndrome MIM#181270
Fetal anomalies v0.632 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Fetal anomalies v0.630 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Fetal anomalies v0.627 MID1 Zornitza Stark Marked gene: MID1 as ready
Fetal anomalies v0.627 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Fetal anomalies v0.624 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Fetal anomalies v0.623 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170
Fetal anomalies v0.622 KAT6A Zornitza Stark Marked gene: KAT6A as ready
Fetal anomalies v0.621 KAT6A Zornitza Stark Phenotypes for gene: KAT6A were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 to Arboleda-Tham syndrome MIM#616268
Fetal anomalies v0.618 MESP2 Zornitza Stark Marked gene: MESP2 as ready
Fetal anomalies v0.616 MEGF10 Zornitza Stark Marked gene: MEGF10 as ready
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 v0.614 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Fetal anomalies v0.614 MBTPS2 Zornitza Stark Phenotypes for gene: MBTPS2 were changed from IFAP syndrome with or without BRESHECK syndrome 308205; Keratosis follicularis spinulosa decalvans, X-linked 308800 to IFAP syndrome with or without BRESHECK syndrome MIM#308205; Osteogenesis imperfecta, type XIX, MIM#301014
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 reviewed gene: UNC50: Rating: ; Mode of pathogenicity: None; Publications: 29016857, 33820833; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: None
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 PAX2 Dean Phelan reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21654726, 24676634, 31060108, 32203253; Phenotypes: Papillorenal syndrome, Renal coloboma syndrome, ventricular septal defect, skeletal deformity, ovarian teratoma, growth retardation, gout, microcephaly, developmental disorder, gonadal abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.612 CRLF1 Zornitza Stark Marked gene: CRLF1 as ready
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 v0.610 PARN Dean Phelan reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.609 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Fetal anomalies v0.607 CREBBP Zornitza Stark changed review comment from: Well established gene-disease association with RTS, deletions reasonably frequent. Menke-Hennekam syndrome-1 (MKHK1) is an allelic disorder caused by heterozygous variants in exon 30 or 31 of the CREBBP gene, and characterised by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Over 20 individuals reported.; to: Well established gene-disease association with RTS, deletions reasonably frequent. Microcephaly is a feature.

Menke-Hennekam syndrome-1 (MKHK1) is an allelic disorder caused by heterozygous variants in exon 30 or 31 of the CREBBP gene, and characterised by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Over 20 individuals reported.
Fetal anomalies v0.607 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Fetal anomalies v0.605 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Fetal anomalies v0.603 CPT2 Zornitza Stark changed review comment from: Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity.

The most severe, neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects.

Some features such as microcephaly and polycystic kidneys may be detectable antenatally.; to: Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity.

The most severe, neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects.

Some features such as microcephaly and polycystic kidneys may be detectable antenatally.

Well established gene-disease association, multiple families reported.
Fetal anomalies v0.603 COX7B Zornitza Stark Marked gene: COX7B as ready
Fetal anomalies v0.603 COX7B Zornitza Stark Phenotypes for gene: COX7B were changed from MICROPHTHALMIA WITH LINEAR SKIN LESIONS to Linear skin defects with multiple congenital anomalies 2, MIM#300887
Fetal anomalies v0.601 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Fetal anomalies v0.601 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from COENZYME Q10 DEFICIENCY to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Fetal anomalies v0.599 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Fetal anomalies v0.599 COQ4 Zornitza Stark Phenotypes for gene: COQ4 were changed from COENZYME Q10 DEFICIENCY, PRIMARY, 7 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Fetal anomalies v0.597 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.597 COLEC11 Zornitza Stark Marked gene: COLEC11 as ready
Fetal anomalies v0.595 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Fetal anomalies v0.592 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Fetal anomalies v0.589 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Fetal anomalies v0.589 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090
Fetal anomalies v0.587 COL6A3 Zornitza Stark reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.587 MMP13 Daniel Flanagan changed review comment from: At least 7 families described with either mono or biallelic variants reports.
Autosomal dominant metaphyseal anadysplasia has been described as more severe, with dominant-negative missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13 and intracellular degradation of both MMP13 and MMP9, resulting in a double enzymatic deficiency. Recessive metaphyseal anadysplasia has been described as a milder form, caused by biallelic loss of function of either MMP9 or MMP13.; to: At least 7 families described with either mono (Metaphyseal anadysplasia) or biallelic (Metaphyseal dysplasia, Spahr type) variants reports.
Autosomal dominant metaphyseal anadysplasia has been described as more severe, with dominant-negative missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13 and intracellular degradation of both MMP13 and MMP9, resulting in a double enzymatic deficiency. Recessive metaphyseal anadysplasia has been described as a milder form, caused by biallelic loss of function of either MMP9 or MMP13.
Fetal anomalies v0.587 COL6A2 Zornitza Stark Marked gene: COL6A2 as ready
Fetal anomalies v0.587 COL6A2 Zornitza Stark Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810 to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090
Fetal anomalies v0.586 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.586 COL6A1 Zornitza Stark Marked gene: COL6A1 as ready
Fetal anomalies v0.586 COL6A1 Zornitza Stark Phenotypes for gene: COL6A1 were changed from COL6A1 associated myopathy to Bethlem myopathy 1, MIM# 158810; Ullrich congenital muscular dystrophy 1, MIM# 254090
Fetal anomalies v0.584 COL6A1 Zornitza Stark reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1, MIM# 158810, Ullrich congenital muscular dystrophy 1, MIM# 254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.584 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Fetal anomalies v0.582 KRIT1 Ain Roesley reviewed gene: KRIT1: Rating: RED; Mode of pathogenicity: None; Publications: 34556564, 20301470; Phenotypes: Cavernous malformations of CNS and retina MIM#116860, Cerebral cavernous malformations-1 MIM#116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 MMADHC Daniel Flanagan reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: None; Publications: 18385497; Phenotypes: Methylmalonic aciduria, cblD type, variant 2 (MIM#277410), Methylmalonic aciduria and homocystinuria, cblD type (MIM#277410), Methylmalonic aciduria, cblD type, variant 2 (MIM#277410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.582 KCTD1 Ain Roesley reviewed gene: KCTD1: Rating: RED; Mode of pathogenicity: None; Publications: 23541344, 31324836; Phenotypes: Scalp-ear-nipple syndrome MIM#181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 KAT6B Ain Roesley reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22715153; Phenotypes: SBBYSS syndrome MIM#603736, Genitopatellar syndrome MIM#606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.582 KAT6A Ain Roesley reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245513; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
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 v0.581 COL4A3BP Zornitza Stark reviewed gene: COL4A3BP: Rating: AMBER; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.581 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Fetal anomalies v0.578 COL4A1 Zornitza Stark edited their review of gene: COL4A1: Changed phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780, Porencephaly
Fetal anomalies v0.578 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Fetal anomalies v0.578 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from PORENCEPHALY 1 to Brain small vessel disease with or without ocular anomalies, MIM#175780; Porenecphaly
Fetal anomalies v0.575 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Fetal anomalies v0.575 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from HP:0006496; HP:0002126; HP:0001883 to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050
Fetal anomalies v0.573 COL3A1 Zornitza Stark changed review comment from: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.

Clubfoot is a feature of EDS vascular type.; to: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.

Talipes is a feature of EDS vascular type.
Fetal anomalies v0.573 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343, Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.573 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Fetal anomalies v0.573 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from KNIEST DYSPLASIA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; ACHONDROGENESIS TYPE 2; SPONDYLOPERIPHERAL DYSPLASIA to Collagenopathy type 2 alpha 1, MONDO:0022800
Fetal anomalies v0.572 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Fetal anomalies v0.572 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from Osteogenesis imperfecta; Ehlers-Danlos syndrome to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Fetal anomalies v0.571 COL1A2 Zornitza Stark edited their review of gene: COL1A2: Added comment: Well established gene-disease associations, likely representing a spectrum. The more severe phenotypes can present antenatally particularly with skeletal features.; Changed rating: GREEN; Changed phenotypes: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120, Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220
Fetal anomalies v0.571 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Fetal anomalies v0.571 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from OSTEOGENESIS IMPERFECTA TYPE III; CAFFEY DISEASE; OSTEOGENESIS IMPERFECTA TYPE I; OSTEOGENESIS IMPERFECTA TYPE IIA; EHLERS-DANLOS SYNDROME TYPE VIIA; COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA; EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED to Caffey disease, MIM#114000; Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060; Osteogenesis imperfecta, type I, MIM#166200; Osteogenesis imperfecta, type II, MIM#166210; Osteogenesis imperfecta, type III, MIM#259420; Osteogenesis imperfecta, type IV, MIM#166220
Fetal anomalies v0.569 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Fetal anomalies v0.567 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Fetal anomalies v0.566 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Fetal anomalies v0.566 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from FIBROCHONDROGENESIS; STICKLER SYNDROME, TYPE II to Fibrochondrogenesis 1, MIM# 228520; Marshall syndrome, MIM# 154780
Fetal anomalies v0.565 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 1, MIM# 228520, Marshall syndrome, MIM# 154780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.565 COL10A1 Zornitza Stark Marked gene: COL10A1 as ready
Fetal anomalies v0.562 COG8 Zornitza Stark Marked gene: COG8 as ready
Fetal anomalies v0.560 COG7 Zornitza Stark Marked gene: COG7 as ready
Fetal anomalies v0.558 COG7 Zornitza Stark changed review comment from: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.

Three families reported, IVS1+4A-C variant is recurrent, supportive functional data.; to: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.

Three families reported, IVS1+4A-C variant is recurrent, supportive functional data.

IUGR is a feature.
Fetal anomalies v0.558 COG4 Zornitza Stark Marked gene: COG4 as ready
Fetal anomalies v0.555 COG4 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.

Saul-Wilson syndrome is associated with mono-allelic variants: skeletal dysplasia, including prenatal findings.
Fetal anomalies v0.555 COG4 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with CDG.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.
Fetal anomalies v0.555 COG1 Zornitza Stark Marked gene: COG1 as ready
Fetal anomalies v0.553 COG1 Zornitza Stark changed review comment from: Two unrelated families and supportive functional data.; to: Two unrelated families and supportive functional data. IUGR and congenital anomalies are a feature.
Fetal anomalies v0.553 COASY Zornitza Stark Marked gene: COASY as ready
Fetal anomalies v0.553 COASY Zornitza Stark Phenotypes for gene: COASY were changed from NEURODEGENERATION WITH BRAIN IRON ACCUMULATION to Pontocerebellar hypoplasia; microcephaly; arthrogryposis
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 v0.550 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Fetal anomalies v0.549 MEIS2 Zornitza Stark Marked gene: MEIS2 as ready
Fetal anomalies v0.546 MEIS2 Zornitza Stark reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427397, 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.546 DSTYK Zornitza Stark Marked gene: DSTYK as ready
Fetal anomalies v0.546 DSTYK Zornitza Stark Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 to Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750
Fetal anomalies v0.542 DSP Zornitza Stark Marked gene: DSP as ready
Fetal anomalies v0.542 DSP Zornitza Stark Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Skin fragility-woolly hair syndrome 607655; Epidermolysis bullosa, lethal acantholytic 609638; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Keratosis palmoplantaris striata II, 612908 to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic, MIM# 609638
Fetal anomalies v0.539 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Fetal anomalies v0.539 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; arthrogryposis; microcephaly; extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria
Fetal anomalies v0.535 ATP1A2 Zornitza Stark commented on gene: ATP1A2: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Fetal anomalies v0.535 DSTYK Belinda Chong reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540,23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.535 DSP Belinda Chong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16467215,23137101,26604139, 22795705,31983221,24108106,16175511,20302578,20613772; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.535 MED17 Zornitza Stark Marked gene: MED17 as ready
Fetal anomalies v0.532 MED17 Zornitza Stark changed review comment from: 5 individuals from 3 families now reported with intellectual disability and variable other neurological features including ataxia and seizures.; to: Over 10 families now reported with intellectual disability and variable other neurological features including ataxia, microcephaly and seizures. Note the c.1112T>C (p.L371P) variant is a founder variant in the Caucasus-Jewish families.
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 v0.532 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark changed review comment from: Multiple affected individuals reported; ID is part of the phenotype.; to: Multiple affected individuals reported, multiple contractures.
Fetal anomalies v0.530 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Fetal anomalies v0.528 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Fetal anomalies v0.525 CNOT3 Zornitza Stark changed review comment from: Comment when marking as ready: 16 unrelated individuals reported.; to: 16 unrelated individuals reported.

Skeletal and structural brain abnormalities in some.
Fetal anomalies v0.525 CNOT1 Zornitza Stark Marked gene: CNOT1 as ready
Fetal anomalies v0.522 CLPB Zornitza Stark Marked gene: CLPB as ready
Fetal anomalies v0.522 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
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 v0.519 CKAP2L Zornitza Stark Marked gene: CKAP2L as ready
Fetal anomalies v0.519 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Fetal anomalies v0.517 CKAP2L Zornitza Stark Phenotypes for gene: CKAP2L were changed from FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION to Filippi syndrome, MIM# 272440
Fetal anomalies v0.515 CHUK Zornitza Stark Marked gene: CHUK as ready
Fetal anomalies v0.515 CHUK Zornitza Stark Phenotypes for gene: CHUK were changed from COCOON SYNDROME to Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome
Fetal anomalies v0.511 CHUK Zornitza Stark reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.511 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Fetal anomalies v0.509 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Fetal anomalies v0.507 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Fetal anomalies v0.505 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Fetal anomalies v0.505 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668
Fetal anomalies v0.501 CHRND Zornitza Stark Marked gene: CHRND as ready
Fetal anomalies v0.499 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Fetal anomalies v0.498 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Fetal anomalies v0.496 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Fetal anomalies v0.495 ITGA6 Zornitza Stark Marked gene: ITGA6 as ready
Fetal anomalies v0.493 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Fetal anomalies v0.491 INTU Zornitza Stark Marked gene: INTU as ready
Fetal anomalies v0.490 INPPL1 Seb Lunke Marked gene: INPPL1 as ready
Fetal anomalies v0.487 IMPAD1 Zornitza Stark Marked gene: IMPAD1 as ready
Fetal anomalies v0.483 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Fetal anomalies v0.483 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from MENTAL RETARDATION X-LINKED TYPE 21 to Intellectual developmental disorder, X-linked 21 MIM#300143
Fetal anomalies v0.480 MAP3K1 Seb Lunke Marked gene: MAP3K1 as ready
Fetal anomalies v0.476 IL11RA Seb Lunke Marked gene: IL11RA as ready
Fetal anomalies v0.475 IHH Zornitza Stark Marked gene: IHH as ready
Fetal anomalies v0.472 MAFB Zornitza Stark Marked gene: MAFB as ready
Fetal anomalies v0.472 MAFB Zornitza Stark Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to Multicentric carpotarsal osteolysis syndrome (MIM#166300)
Fetal anomalies v0.469 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Fetal anomalies v0.469 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI MIM#604320 to Neuronopathy, distal hereditary motor, type VI MIM#604320; SMA with respiratory distress, SMARD1
Fetal anomalies v0.468 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 to Neuronopathy, distal hereditary motor, type VI MIM#604320
Fetal anomalies v0.466 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Fetal anomalies v0.466 IFIH1 Zornitza Stark Phenotypes for gene: IFIH1 were changed from SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7 to Aicardi-Goutieres syndrome 7 MIM#615846; Singleton-Merten syndrome 1, MIM# 182250
Fetal anomalies v0.464 IFIH1 Zornitza Stark Mode of pathogenicity for gene: IFIH1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.462 IDUA Seb Lunke Marked gene: IDUA as ready
Fetal anomalies v0.462 IDUA Seb Lunke Phenotypes for gene: IDUA were changed from MUCOPOLYSACCHARIDOSIS TYPE 1H; MUCOPOLYSACCHARIDOSIS TYPE 1H/S; MUCOPOLYSACCHARIDOSIS TYPE 1S to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070); Mucopolysaccharidosis type 1, MONDO:0001586
Fetal anomalies v0.460 IDS Zornitza Stark Marked gene: IDS as ready
Fetal anomalies v0.460 IDS Zornitza Stark Phenotypes for gene: IDS were changed from MUCOPOLYSACCHARIDOSIS TYPE 2 to Mucopolysaccharidosis II MIM#309900; MONDO:0010674; Hunter syndrome
Fetal anomalies v0.458 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.458 MAF Seb Lunke Marked gene: MAF as ready
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 v0.455 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Fetal anomalies v0.453 LTBP3 Zornitza Stark Marked gene: LTBP3 as ready
Fetal anomalies v0.450 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Fetal anomalies v0.448 ITGA6 Ain Roesley changed review comment from: At least 4 probands reported

Pyelonephrosis, Urethrovesical occlusion and Stenosis at the ureterovesical junctions are some other features in this condition; to: At least 4 probands reported

Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder).
Fetal anomalies v0.448 MAFB Daniel Flanagan reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.448 IGHMBP2 Ain Roesley reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14681881, 23560007, 30863264; Phenotypes: Neuronopathy, distal hereditary motor, type VI MIM#604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.448 IFIH1 Ain Roesley reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846, 28605144, 26284909, 28475458; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846, SINGLETON-MERTEN SYNDROME 1 (MIM# 182250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.448 CHKB Zornitza Stark Marked gene: CHKB as ready
Fetal anomalies v0.448 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type 602541 to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Fetal anomalies v0.446 CHKB Zornitza Stark reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.446 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Fetal anomalies v0.446 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5 to CHARGE syndrome, MIM# 214800
Fetal anomalies v0.443 CHD7 Zornitza Stark changed review comment from: Very rare reports of CDH in CHARGE syndrome, not a characteristic or common feature.; to: Well established gene-disease association, multiple congenital anomalies are a feature.
Fetal anomalies v0.443 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Fetal anomalies v0.442 CHD4 Zornitza Stark changed review comment from: Many P/LP variants reported. Missense variants disrupt ATPase activity and decrease nucleosome remodelling ability. ~50% of missense variants occur between p.1127-1192 containing motifs V, Vb and VI.; to: Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual developmental disorder with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features.

Many P/LP variants reported. Missense variants disrupt ATPase activity and decrease nucleosome remodelling ability. ~50% of missense variants occur between p.1127-1192 containing motifs V, Vb and VI.
Fetal anomalies v0.441 CHAT Zornitza Stark Marked gene: CHAT as ready
Fetal anomalies v0.440 CHAMP1 Zornitza Stark Marked gene: CHAMP1 as ready
Fetal anomalies v0.440 CHAMP1 Zornitza Stark Phenotypes for gene: CHAMP1 were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 40 (MIM#616579); microcephaly
Fetal anomalies v0.437 CHAMP1 Zornitza Stark reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.437 CFTR Zornitza Stark Marked gene: CFTR as ready
Fetal anomalies v0.436 CFC1 Zornitza Stark Marked gene: CFC1 as ready
Fetal anomalies v0.436 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from Heterotaxy, visceral, 2, autosomal, 605376; CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS to Heterotaxy, visceral, 2, autosomal 605376
Fetal anomalies v0.434 CFAP53 Zornitza Stark Marked gene: CFAP53 as ready
Fetal anomalies v0.434 CFAP53 Zornitza Stark Phenotypes for gene: CFAP53 were changed from inverted spleen; midline liver; Dextrocardia; Heterotaxy, visceral, 6, autosomal recessive; Transposition of the great arteries; gut malrotation to Heterotaxy, visceral, 6, autosomal recessive 614779
Fetal anomalies v0.432 IDUA Ain Roesley reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Mucopolysaccharidosis Ih (MIM#607014), Mucopolysaccharidosis Ih/s (MIM#607015), Mucopolysaccharidosis Is (MIM#6070), Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.432 CEP83 Zornitza Stark Marked gene: CEP83 as ready
Fetal anomalies v0.430 CEP57 Zornitza Stark Marked gene: CEP57 as ready
Fetal anomalies v0.430 CEP57 Zornitza Stark Phenotypes for gene: CEP57 were changed from MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 to Mosaic variegated aneuploidy syndrome 2, #MIM 614114
Fetal anomalies v0.428 IDS Ain Roesley reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921913, 9762601, 8940265, 1901826; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.428 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Fetal anomalies v0.426 CEP290 Zornitza Stark edited their review of gene: CEP290: Changed phenotypes: Joubert syndrome 5, MIM# 610188, Meckel syndrome 4, MIM# 611134, Bardet-Biedl syndrome 14, MIM# 615991
Fetal anomalies v0.426 CEP290 Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and BBS which all have congenital abnormalities as a feature.
Fetal anomalies v0.426 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Fetal anomalies v0.426 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from LEBER CONGENITAL AMAUROSIS TYPE 10; BARDET-BIEDL SYNDROME TYPE 14; JOUBERT SYNDROME TYPE 5; SENIOR-LOKEN SYNDROME TYPE 6; MECKEL SYNDROME TYPE 4 to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134
Fetal anomalies v0.423 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Fetal anomalies v0.423 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from Nephronophthisis 15 614845 to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome
Fetal anomalies v0.421 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Fetal anomalies v0.421 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4 to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Fetal anomalies v0.419 CEP152 Zornitza Stark changed review comment from: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. ID is a feature of both disorders. Gene encodes centriole protein.; to: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. Gene encodes centriole protein.
Fetal anomalies v0.419 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Fetal anomalies v0.417 CEP104 Zornitza Stark changed review comment from: Three unrelated individuals reported, ID is part of the phenotype.
Sources: Expert list; to: Three unrelated individuals reported, structural brain abnormalities are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.417 CEP104 Zornitza Stark Marked gene: CEP104 as ready
Fetal anomalies v0.415 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Fetal anomalies v0.415 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6 to Microcephaly 6, primary, autosomal recessive, MIM# 608393; Seckel syndrome 4, MIM# 613676
Fetal anomalies v0.413 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, Seckel syndrome 4, MIM# 613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.413 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Fetal anomalies v0.412 CDON Zornitza Stark Marked gene: CDON as ready
Fetal anomalies v0.410 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Fetal anomalies v0.408 CDKN1C Zornitza Stark edited their review of gene: CDKN1C: Added comment: LoF variants in this gene cause overgrowth and BWS.

IMAGe syndrome: reported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved "hot-spot" within the PCNA-binding domain of CDKN1C between codons 272-279. Note 3 families reported with RSS phenotype without other IMAGE features, all with missense changes at amino acid positions 279 and 281.

Can present antenatally with macrosomia/IUGR respectively.; Changed rating: GREEN; Changed publications: 10424811, 8841187, 22205991, 20503313, 19843502, 15372379, 23511928, 30794780, 33076988, 31976094, 31497289; Changed phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650, IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.408 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Fetal anomalies v0.408 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 to Developmental and epileptic encephalopathy 2, MIM# 300672
Fetal anomalies v0.405 CDK13 Zornitza Stark Marked gene: CDK13 as ready
Fetal anomalies v0.405 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360
Fetal anomalies v0.403 CDH3 Zornitza Stark Marked gene: CDH3 as ready
Fetal anomalies v0.403 CDH3 Zornitza Stark Phenotypes for gene: CDH3 were changed from EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
Fetal anomalies v0.401 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805154, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.401 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Fetal anomalies v0.401 CDH1 Zornitza Stark Phenotypes for gene: CDH1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 1, MIM# 119580
Fetal anomalies v0.398 CDH1 Zornitza Stark reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301459; Phenotypes: Blepharocheilodontic syndrome 1, MIM# 119580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.398 CDC6 Zornitza Stark Marked gene: CDC6 as ready
Fetal anomalies v0.395 CDC45 Zornitza Stark Marked gene: CDC45 as ready
Fetal anomalies v0.393 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Fetal anomalies v0.391 CCND2 Zornitza Stark Marked gene: CCND2 as ready
Fetal anomalies v0.389 CCND2 Zornitza Stark Mode of pathogenicity for gene: CCND2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.388 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Fetal anomalies v0.388 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from CILIARY DYSKINESIA, PRIMARY, 15 to Ciliary dyskinesia, primary, 15, MIM#613808
Fetal anomalies v0.386 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Fetal anomalies v0.386 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from CILIARY DYSKINESIA, PRIMARY, 14 to Ciliary dyskinesia, primary, 14, MIM# 613807
Fetal anomalies v0.384 CCDC114 Zornitza Stark Marked gene: CCDC114 as ready
Fetal anomalies v0.384 CCDC114 Zornitza Stark Phenotypes for gene: CCDC114 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 20, MIM# 615067
Fetal anomalies v0.382 CCDC103 Zornitza Stark Marked gene: CCDC103 as ready
Fetal anomalies v0.382 CCDC103 Zornitza Stark Phenotypes for gene: CCDC103 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 17, MIM# 614679
Fetal anomalies v0.380 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Fetal anomalies v0.378 CBL Zornitza Stark Marked gene: CBL as ready
Fetal anomalies v0.376 CBL Zornitza Stark Mode of pathogenicity for gene: CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.374 CBL Zornitza Stark changed review comment from: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported.; to: Noonan syndrome-like disorder is a developmental disorder characterised by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. Over 20 affected individuals reported.

Can present antenatally with hydrops or congenital heart disease.
Fetal anomalies v0.374 CASK Zornitza Stark Marked gene: CASK as ready
Fetal anomalies v0.374 CASK Zornitza Stark Phenotypes for gene: CASK were changed from MENTAL RETARDATION X-LINKED CASK-RELATED; MRX WITH/WITHOUT NYSTAGMUS; FG SYNDROME TYPE 4 to FG syndrome 4, MIM# 300422; Mental retardation, with or without nystagmus, MIM# 300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Fetal anomalies v0.371 CASK Zornitza Stark changed review comment from: FG syndrome is listed in review articles of arthrogryposis-associated conditions, however I am unable to find specific reports of contractures, or mention of contractures in reviews of CASK-related disorders.; to: CASK-related disorders have microcephaly and structural brain abnormalities as features.
Fetal anomalies v0.371 CASK Zornitza Stark edited their review of gene: CASK: Changed rating: GREEN; Changed phenotypes: FG syndrome 4, MIM# 300422, Mental retardation, with or without nystagmus, MIM# 300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Fetal anomalies v0.371 CACNA1E Zornitza Stark Marked gene: CACNA1E as ready
Fetal anomalies v0.371 CACNA1E Zornitza Stark Phenotypes for gene: CACNA1E were changed from Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias to Epileptic encephalopathy, early infantile, 69, MIM#618285
Fetal anomalies v0.368 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Fetal anomalies v0.365 CA8 Zornitza Stark Marked gene: CA8 as ready
Fetal anomalies v0.365 CA8 Zornitza Stark Phenotypes for gene: CA8 were changed from CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227
Fetal anomalies v0.362 CA8 Zornitza Stark changed review comment from: At least two unrelated families reported, and animal model.; to: Phenotype becomes apparent post-natally; two unrelated families reported, and animal model.
Fetal anomalies v0.362 CA2 Zornitza Stark Marked gene: CA2 as ready
Fetal anomalies v0.362 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Fetal anomalies v0.361 CA2 Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype in some patients.; to: Can present perinatally.
Fetal anomalies v0.361 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Fetal anomalies v0.361 C8orf37 Zornitza Stark Phenotypes for gene: C8orf37 were changed from CONE-ROD DYSTROPHY 16 to Bardet-Biedl syndrome 21, MIM#617406
Fetal anomalies v0.358 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Fetal anomalies v0.356 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Fetal anomalies v0.354 C21orf2 Zornitza Stark changed review comment from: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

New HGNC approved name is CFAP410.; to: Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on ERG. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. At least 7 unrelated families reported.

New HGNC approved name is CFAP410.

Thoracic hypoplasia is present at birth so relevant to this panel.
Fetal anomalies v0.354 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Fetal anomalies v0.354 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 to Combined oxidative phosphorylation deficiency 7, MIM# 613559; Spastic paraplegia 55, autosomal recessive, MIM# 615035
Fetal anomalies v0.351 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: None; Publications: 32478789; Phenotypes: Combined oxidative phosphorylation deficiency 7, MIM# 613559, Spastic paraplegia 55, autosomal recessive, MIM# 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.351 C11orf70 Zornitza Stark Marked gene: C11orf70 as ready
Fetal anomalies v0.351 C11orf70 Zornitza Stark Phenotypes for gene: C11orf70 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 38, MIM# 618063
Fetal anomalies v0.350 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Fetal anomalies v0.350 BUB1B Zornitza Stark Phenotypes for gene: BUB1B were changed from MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 to Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Fetal anomalies v0.348 BUB1B Zornitza Stark reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18548531; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.348 BTD Zornitza Stark Marked gene: BTD as ready
Fetal anomalies v0.346 BSND Zornitza Stark Marked gene: BSND as ready
Fetal anomalies v0.346 BSND Zornitza Stark Phenotypes for gene: BSND were changed from BARTTER SYNDROME TYPE 4A to Bartter syndrome, type 4a, MIM#602522
Fetal anomalies v0.345 BSND Zornitza Stark changed review comment from: Downgrade to Amber after review against GEL panel; ID not a consistent/predominant feature of Bartter syndrome.; to: Can present antenatally with polyhydramnios.
Fetal anomalies v0.345 BRPF1 Zornitza Stark Marked gene: BRPF1 as ready
Fetal anomalies v0.342 BRPF1 Zornitza Stark changed review comment from: Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures. At least 10 unrelated families reported.; to: Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures. At least 10 unrelated families reported.

IUGR reported in some.
Fetal anomalies v0.342 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Fetal anomalies v0.341 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Fetal anomalies v0.340 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Fetal anomalies v0.340 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
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 v0.338 BRAT1 Zornitza Stark edited their review of gene: BRAT1: Changed phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056, Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Fetal anomalies v0.338 BRAF Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Hydrops and congenital heart disease are key features.
Fetal anomalies v0.338 BRAF Zornitza Stark Marked gene: BRAF as ready
Fetal anomalies v0.338 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from NOONAN SYNDROME TYPE 7; CARDIOFACIOCUTANEOUS SYNDROME; LEOPARD SYNDROME TYPE 3 to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150
Fetal anomalies v0.336 BRAF Zornitza Stark Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.335 BMPR1B Zornitza Stark Marked gene: BMPR1B as ready
Fetal anomalies v0.333 BMPER Zornitza Stark Marked gene: BMPER as ready
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 v0.331 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Fetal anomalies v0.329 BMP4 Zornitza Stark changed review comment from: Variants in this gene are associated with both syndromic and non-syndromic CL/P, over 20 families reported. Note some of the variants reported with isolated CL/P are susceptibility alleles.

Deletions reported.; to: Variants in this gene are associated with both syndromic and non-syndromic CL/P, over 20 families reported.

Note some of the variants reported with isolated CL/P are susceptibility alleles.

Deletions reported.
Fetal anomalies v0.329 BMP4 Zornitza Stark changed review comment from: Variants in this gene are associated with both syndromic and non-syndromic CL/P. Note some of the variants reported with isolated CL/P are susceptibility alleles.; to: Variants in this gene are associated with both syndromic and non-syndromic CL/P, over 20 families reported. Note some of the variants reported with isolated CL/P are susceptibility alleles.

Deletions reported.
Fetal anomalies v0.329 BMP4 Zornitza Stark edited their review of gene: BMP4: Added comment: Variants in this gene are associated with both syndromic and non-syndromic CL/P. Note some of the variants reported with isolated CL/P are susceptibility alleles.; Changed publications: 31053785, 19249007, 31909686, 21340693; Changed phenotypes: Orofacial cleft 11 600625, Microphthalmia, syndromic 6, MIM# 607932
Fetal anomalies v0.327 BMP2 Zornitza Stark Marked gene: BMP2 as ready
Fetal anomalies v0.327 BMP2 Zornitza Stark Phenotypes for gene: BMP2 were changed from Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Brachydactyly, type A2 112600 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877
Fetal anomalies v0.324 BMP2 Zornitza Stark reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.324 BMP1 Zornitza Stark Marked gene: BMP1 as ready
Fetal anomalies v0.322 BLM Zornitza Stark Marked gene: BLM as ready
Fetal anomalies v0.319 BIN1 Zornitza Stark Marked gene: BIN1 as ready
Fetal anomalies v0.319 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from CENTRONUCLEAR MYOPATHY 2 to Centronuclear myopathy 2, MIM# 255200
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 v0.317 BHLHA9 Zornitza Stark Marked gene: BHLHA9 as ready
Fetal anomalies v0.314 BGN Zornitza Stark Marked gene: BGN as ready
Fetal anomalies v0.310 DLL4 Zornitza Stark Marked gene: DLL4 as ready
Fetal anomalies v0.307 BFSP2 Zornitza Stark Marked gene: BFSP2 as ready
Fetal anomalies v0.307 BFSP2 Zornitza Stark Phenotypes for gene: BFSP2 were changed from CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED to Cataract 12, multiple types, MIM# 611597
Fetal anomalies v0.304 BFSP2 Zornitza Stark reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10729115, 10739768, 15570218, 24654948, 21836522; Phenotypes: Cataract 12, multiple types, MIM# 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.304 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Fetal anomalies v0.302 BCOR Zornitza Stark Marked gene: BCOR as ready
Fetal anomalies v0.302 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from MICROPHTHALMIA SYNDROMIC TYPE 2 to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Fetal anomalies v0.300 BCL11A Zornitza Stark Marked gene: BCL11A as ready
Fetal anomalies v0.297 BCAP31 Zornitza Stark Marked gene: BCAP31 as ready
Fetal anomalies v0.297 BCAP31 Zornitza Stark Phenotypes for gene: BCAP31 were changed from DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Fetal anomalies v0.295 BCAP31 Zornitza Stark changed review comment from: More than 20 unrelated families reported. Clinical features include severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. Female carriers are mostly asymptomatic but may present with deafness. Most patients with a LoF pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.; to: More than 20 unrelated families reported. Clinical features include severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. Female carriers are mostly asymptomatic but may present with deafness. Most patients with a LoF pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.

Microcephaly is a feature.
Fetal anomalies v0.295 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Fetal anomalies v0.295 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from BARDET-BIEDL SYNDROME TYPE 9 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Fetal anomalies v0.293 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Fetal anomalies v0.293 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from BARDET-BIEDL SYNDROME TYPE 7 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Fetal anomalies v0.291 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Fetal anomalies v0.291 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from BARDET-BIEDL SYNDROME TYPE 5 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Fetal anomalies v0.289 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Fetal anomalies v0.289 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from BARDET-BIEDL SYNDROME TYPE 4 to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Fetal anomalies v0.287 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Fetal anomalies v0.287 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from BARDET-BIEDL SYNDROME TYPE 2 to Bardet-Biedl syndrome 2, MIM# 615981
Fetal anomalies v0.285 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Fetal anomalies v0.285 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from BARDET-BIEDL SYNDROME TYPE 12 to Bardet-Biedl syndrome 12, MIM# 615989
Fetal anomalies v0.283 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Fetal anomalies v0.283 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from BARDET-BIEDL SYNDROME TYPE 10 to Bardet-Biedl syndrome 10, MIM# 615987
Fetal anomalies v0.281 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Fetal anomalies v0.280 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Fetal anomalies v0.278 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Fetal anomalies v0.276 B3GLCT Zornitza Stark changed review comment from: Retinal coloboma is part of the phenotype.
Sources: Expert list; to: IUGR, cleft lip/palate are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.276 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Fetal anomalies v0.275 B3GAT3 Zornitza Stark changed review comment from: Established gene-disease association.; to: Established gene-disease association. 26 patients from 13 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Multiple skeletal and cardiac abnormalities reported.
Fetal anomalies v0.275 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Fetal anomalies v0.273 B3GALT6 Zornitza Stark changed review comment from: Bi-allelic variants in this gene cause severe skeletal/connective tissue phenotypes, and although developmental delay has been described, it is unclear whether this truly reflects intellectual disability.; to: Bi-allelic variants in this gene cause severe skeletal/connective tissue phenotypes, including IUGR, cleft palate, joint contractures.
Fetal anomalies v0.273 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Fetal anomalies v0.273 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from DKC1-RELATED DYSKERATOSIS CONGENITA; DYSKERATOSIS CONGENITA, X-LINKED to Dyskeratosis congenita, X-linked MIM#305000; Hoyeraal-Hreidarsson syndrome (HHS)
Fetal anomalies v0.271 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Fetal anomalies v0.269 DHODH Zornitza Stark Marked gene: DHODH as ready
Fetal anomalies v0.267 DDX3X Zornitza Stark Marked gene: DDX3X as ready
Fetal anomalies v0.267 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from Intellectual disability; INTELLECTUAL DIABILITY; Mental retardation, X-linked 102, 300958 to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Fetal anomalies v0.265 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Fetal anomalies v0.264 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Fetal anomalies v0.259 ADCY6 Zornitza Stark Marked gene: ADCY6 as ready
Fetal anomalies v0.256 SIK3 Zornitza Stark Marked gene: SIK3 as ready
Fetal anomalies v0.255 LIPA Zornitza Stark Marked gene: LIPA as ready
Fetal anomalies v0.254 DCHS1 Zornitza Stark Marked gene: DCHS1 as ready
Fetal anomalies v0.254 DCHS1 Zornitza Stark Phenotypes for gene: DCHS1 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to Van Maldergem syndrome 1, MIM# 601390
Fetal anomalies v0.252 HSF4 Zornitza Stark Marked gene: HSF4 as ready
Fetal anomalies v0.252 HSF4 Zornitza Stark Phenotypes for gene: HSF4 were changed from CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types MIM#116800
Fetal anomalies v0.249 HSD17B3 Zornitza Stark Marked gene: HSD17B3 as ready
Fetal anomalies v0.249 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Fetal anomalies v0.249 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Fetal anomalies v0.247 HR Zornitza Stark Marked gene: HR as ready
Fetal anomalies v0.247 HR Zornitza Stark Phenotypes for gene: HR were changed from ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS to Atrichia with papular lesions MIM#209500
Fetal anomalies v0.245 HPSE2 Zornitza Stark Marked gene: HPSE2 as ready
Fetal anomalies v0.243 LIFR Zornitza Stark Marked gene: LIFR as ready
Fetal anomalies v0.243 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from Schwartz-Jampel type 2 syndrome; Stuve-Wiedemann syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT
Fetal anomalies v0.240 LIFR Zornitza Stark reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.240 HOXD13 Zornitza Stark Marked gene: HOXD13 as ready
Fetal anomalies v0.238 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Fetal anomalies v0.236 LHX4 Zornitza Stark Marked gene: LHX4 as ready
Fetal anomalies v0.236 LHX4 Zornitza Stark Phenotypes for gene: LHX4 were changed from LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY to Pituitary hormone deficiency, combined, 4, MIM#262700
Fetal anomalies v0.233 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Fetal anomalies v0.231 HNF4A Zornitza Stark Marked gene: HNF4A as ready
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 v0.229 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Fetal anomalies v0.227 LAMC3 Zornitza Stark Marked gene: LAMC3 as ready
Fetal anomalies v0.223 HES7 Zornitza Stark Marked gene: HES7 as ready
Fetal anomalies v0.222 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Fetal anomalies v0.221 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Fetal anomalies v0.220 HADHA Zornitza Stark Marked gene: HADHA as ready
Fetal anomalies v0.219 HAAO Zornitza Stark Marked gene: HAAO as ready
Fetal anomalies v0.218 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Fetal anomalies v0.218 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from L-2-HYDROXYGLUTARIC ACIDURIA to L-2-hydroxyglutaric aciduria, MIM#236792
Fetal anomalies v0.215 TOP2B Zornitza Stark Marked gene: TOP2B as ready
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 SCN2A Seb Lunke Marked gene: SCN2A as ready
Fetal anomalies v0.211 ATRX Zornitza Stark Marked gene: ATRX as ready
Fetal anomalies v0.211 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE; MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 to Alpha-thalassemia/mental retardation syndrome, MIM# 301040
Fetal anomalies v0.209 ATRX Zornitza Stark changed review comment from: The hallmark of this condition is hypotonia. Contractures have been described but are not a key/prominent feature.; to: Multiple congenital anomalies reported in association with this condition.
Fetal anomalies v0.209 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Fetal anomalies v0.209 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; MENKES DISEASE; OCCIPITAL HORN SYNDROME to Menkes disease, MIM# 309400
Fetal anomalies v0.208 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Fetal anomalies v0.206 ATP6V0A2 Zornitza Stark changed review comment from: Defective glycosylation is part of the phenotype. More than 20 unrelated families reported.; to: More than 20 unrelated families reported. IUGR and skeletal anomalies are a feature.
Fetal anomalies v0.206 ATIC Zornitza Stark Marked gene: ATIC as ready
Fetal anomalies v0.204 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Fetal anomalies v0.204 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Harel-Yoon syndrome, OMIM:617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Fetal anomalies v0.203 SC5D Seb Lunke Marked gene: SC5D as ready
Fetal anomalies v0.200 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Fetal anomalies v0.197 ASXL1 Zornitza Stark changed review comment from: Colobomas reported.; to: Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints -- many of these features would be identifiable antenatally.
Fetal anomalies v0.197 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Fetal anomalies v0.195 ASPM Zornitza Stark Marked gene: ASPM as ready
Fetal anomalies v0.195 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 5, primary, autosomal recessive, MIM#608716
Fetal anomalies v0.193 ASPA Zornitza Stark Marked gene: ASPA as ready
Fetal anomalies v0.191 ASNS Zornitza Stark Marked gene: ASNS as ready
Fetal anomalies v0.191 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency 615574 to Asparagine synthetase deficiency, MIM#615574
Fetal anomalies v0.190 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Fetal anomalies v0.190 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from spinal muscular atrophy; hypotonia; contractures; fetal akinesia; arthrogryposis to Spinal muscular atrophy with congenital bone fractures 2 MIM#616867
Fetal anomalies v0.189 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Fetal anomalies v0.189 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY; FARBER LIPOGRANULOMATOSIS to Farber lipogranulomatosis, MIM# 228000
Fetal anomalies v0.187 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11241842; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.187 ARX Zornitza Stark Marked gene: ARX as ready
Fetal anomalies v0.187 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Fetal anomalies v0.187 ARX Zornitza Stark Phenotypes for gene: ARX were changed from AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1; PARTINGTON SYNDROME; MENTAL RETARDATION X-LINKED ARX-RELATED; LISSENCEPHALY X-LINKED TYPE 2 to Hydranencephaly with abnormal genitalia, MIM# 300215; Lissencephaly, X-linked 2, MIM# 300215
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 v0.185 SAMHD1 Seb Lunke Marked gene: SAMHD1 as ready
Fetal anomalies v0.185 SAMHD1 Seb Lunke Phenotypes for gene: SAMHD1 were changed from AICARDI-GOUTIERES SYNDROME to Aicardi-Goutieres syndrome 5, MIM#612952
Fetal anomalies v0.183 SAMHD1 Seb Lunke reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21102625; Phenotypes: Aicardi-Goutieres syndrome 5, MIM#612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.183 ARSE Zornitza Stark Marked gene: ARSE as ready
Fetal anomalies v0.183 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Fetal anomalies v0.183 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from CHONDRODYSPLASIA PUNCTATA 1, X-LINKED to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Fetal anomalies v0.182 ARSE Zornitza Stark changed review comment from: Well established gene-disease association. Note HGNC approved name is ARSL.; to: Well established gene-disease association. Note HGNC approved name is ARSL. Multiple skeletal anomalies detectable prenatally.
Fetal anomalies v0.182 ARSB Zornitza Stark Marked gene: ARSB as ready
Fetal anomalies v0.182 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Fetal anomalies v0.182 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from MUCOPOLYSACCHARIDOSIS TYPE 6 to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Fetal anomalies v0.181 ARSB Zornitza Stark Publications for gene: ARSB were set to
Fetal anomalies v0.180 ARSB Zornitza Stark changed review comment from: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association.; to: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association.

Perinatal presentation is uncommon but reported with oedema and skeletal changes.
Fetal anomalies v0.180 ARSB Zornitza Stark edited their review of gene: ARSB: Changed publications: 11668612, 1301949
Fetal anomalies v0.180 ARSA Zornitza Stark Marked gene: ARSA as ready
Fetal anomalies v0.180 ARSA Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence).
Fetal anomalies v0.180 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from ARYLSULFATASE A DEFICIENCY to Metachromatic leukodystrophy, MIM# 250100
Fetal anomalies v0.178 ARSA Zornitza Stark Classified gene: ARSA as Red List (low evidence)
Fetal anomalies v0.178 ARSA Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence).
Fetal anomalies v0.177 ARSA Zornitza Stark reviewed gene: ARSA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.177 SAMD9 Seb Lunke Marked gene: SAMD9 as ready
Fetal anomalies v0.177 ARMC9 Zornitza Stark Marked gene: ARMC9 as ready
Fetal anomalies v0.177 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Fetal anomalies v0.177 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from Joubert syndrome 30 to Joubert syndrome 30, MIM# 617622
Fetal anomalies v0.176 ARMC9 Zornitza Stark Publications for gene: ARMC9 were set to
Fetal anomalies v0.175 ARMC4 Zornitza Stark Marked gene: ARMC4 as ready
Fetal anomalies v0.175 ARMC4 Zornitza Stark Gene: armc4 has been classified as Green List (High Evidence).
Fetal anomalies v0.175 ARMC4 Zornitza Stark Phenotypes for gene: ARMC4 were changed from CILIARY DYSKINESIA, PRIMARY, 23 to Ciliary dyskinesia, primary, 23, MIM# 615451
Fetal anomalies v0.174 ARMC4 Zornitza Stark Publications for gene: ARMC4 were set to
Fetal anomalies v0.173 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Fetal anomalies v0.173 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Fetal anomalies v0.173 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from RETINITIS PIGMENTOSA TYPE 55; BARDET-BIEDL SYNDROME TYPE 3 to Bardet-Biedl syndrome 3, MIM# 600151
Fetal anomalies v0.172 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Fetal anomalies v0.171 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Fetal anomalies v0.171 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Fetal anomalies v0.171 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Fetal anomalies v0.171 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Fetal anomalies v0.171 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 to Coffin-Siris syndrome 1, MIM 135900
Fetal anomalies v0.170 ARID1B Zornitza Stark Publications for gene: ARID1B were set to
Fetal anomalies v0.169 ARID1B Zornitza Stark Mode of inheritance for gene: ARID1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.168 ARID1B Zornitza Stark reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1, MIM 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.168 ARID1A Zornitza Stark Marked gene: ARID1A as ready
Fetal anomalies v0.168 ARID1A Zornitza Stark Gene: arid1a has been classified as Green List (High Evidence).
Fetal anomalies v0.168 ARID1A Zornitza Stark Phenotypes for gene: ARID1A were changed from COFFIN-SIRIS SYNDROME to Coffin-Siris syndrome 2 (MIM#614607)
Fetal anomalies v0.167 ARID1A Zornitza Stark Publications for gene: ARID1A were set to
Fetal anomalies v0.166 ARID1A Zornitza Stark Mode of inheritance for gene: ARID1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.165 ARID1A Zornitza Stark reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23929686, 22426308, 25168959; Phenotypes: Coffin-Siris syndrome 2 (MIM#614607); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.165 ARHGAP31 Zornitza Stark Marked gene: ARHGAP31 as ready
Fetal anomalies v0.165 ARHGAP31 Zornitza Stark Gene: arhgap31 has been classified as Green List (High Evidence).
Fetal anomalies v0.165 ARHGAP31 Zornitza Stark Phenotypes for gene: ARHGAP31 were changed from ADAMS-OLIVER SYNDROME 1 to Adams-Oliver syndrome 1, MIM#100300
Fetal anomalies v0.164 ARHGAP31 Zornitza Stark Mode of inheritance for gene: ARHGAP31 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.163 ARHGAP31 Zornitza Stark changed review comment from: Classically cutis aplasia and transverse limb defects with normal cognition, intellectual disability rare.; to: Classically cutis aplasia and transverse limb defects with normal cognition.
Fetal anomalies v0.163 ARHGAP31 Zornitza Stark edited their review of gene: ARHGAP31: Changed rating: GREEN
Fetal anomalies v0.163 ARCN1 Zornitza Stark Marked gene: ARCN1 as ready
Fetal anomalies v0.163 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.163 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655
Fetal anomalies v0.162 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.161 AR Zornitza Stark Marked gene: AR as ready
Fetal anomalies v0.161 AR Zornitza Stark Gene: ar has been classified as Green List (High Evidence).
Fetal anomalies v0.161 AR Zornitza Stark Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME to Androgen insensitivity, MIM# 300068
Fetal anomalies v0.160 AR Zornitza Stark changed review comment from: Progressive neurological condition, ID is not part of the phenotype.; to: DSD.
Fetal anomalies v0.160 AR Zornitza Stark edited their review of gene: AR: Changed rating: GREEN; Changed phenotypes: Androgen insensitivity, MIM# 300068
Fetal anomalies v0.160 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Fetal anomalies v0.160 AP4E1 Zornitza Stark Phenotypes for gene: AP4E1 were changed from Hereditary spastic paraplegia 51, MONDO:0013401; Spastic paraplegia 51, autosomal recessive, OMIM:613744 to Spastic paraplegia 51, autosomal recessive, MIM# 613744; MONDO:0013401
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 v0.158 HSF4 Ain Roesley reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 5, multiple types MIM#116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.157 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Fetal anomalies v0.156 AP1S2 Zornitza Stark changed review comment from: Contractures are mentioned in the OMIM summary for this disorder, but do not appear to be a common/prominent feature.; to: Dandy-Walker malformation, hydrocephalus, intracranial calcifications reported in some patients.
Fetal anomalies v0.156 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Fetal anomalies v0.154 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Fetal anomalies v0.152 HR Ain Roesley reviewed gene: HR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.152 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Fetal anomalies v0.149 ANKRD11 Zornitza Stark changed review comment from: Single individual reported.
Sources: Literature; to: Well established gene-disease association. Microcephaly and skeletal abnormalities are common, in addition to ID and dysmorphic features.
Sources: Literature
Fetal anomalies v0.149 ANKH Zornitza Stark Marked gene: ANKH as ready
Fetal anomalies v0.146 ANKH Zornitza Stark changed review comment from: Intellectual disability is not part of the phenotype of this skeletal dysplasia.; to: Can present perinatally with skeletal abnormalities.
Fetal anomalies v0.146 ANAPC1 Zornitza Stark Marked gene: ANAPC1 as ready
Fetal anomalies v0.145 AMT Zornitza Stark Marked gene: AMT as ready
Fetal anomalies v0.143 LIFR Daniel Flanagan reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334964; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.143 LHX4 Daniel Flanagan reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11567216, 18445675, 27820671; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM#262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v0.143 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Fetal anomalies v0.141 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
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 v0.139 HAAO Ain Roesley reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 28792876, 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 L2HGDH Daniel Flanagan reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: 20052767; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.139 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Fetal anomalies v0.135 QRICH1 Zornitza Stark changed review comment from: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.; to: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.

IUGR rarely reported. Other features are unlikely to be detectable perinatally.
Fetal anomalies v0.135 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Fetal anomalies v0.132 FAM111A Zornitza Stark changed review comment from: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia.
Sources: Literature; to: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia. Prenatal presentation reported.
Sources: Literature
Fetal anomalies v0.132 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Fetal anomalies v0.132 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from reduced fetal movements; PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); hydrops fetalis; Pterygium to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291
Fetal anomalies v0.130 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Fetal anomalies v0.130 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from PONTOCEREBELLAR HYPOPLASIA to Pontocerebellar hypoplasia, type 9, MIM#615809
Fetal anomalies v0.128 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Fetal anomalies v0.126 ALX4 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Bi-allelic variants are associated with FND and mono-allelic variants are associated with parietal foramina.
Fetal anomalies v0.126 ALX4 Zornitza Stark edited their review of gene: ALX4: Changed phenotypes: Frontonasal dysplasia 2, MIM# 613451, Parietal foramina 2, MIM# 609597
Fetal anomalies v0.126 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Fetal anomalies v0.126 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from FRONTONASAL DYSPLASIA 2; PARIETAL FORAMINA 2 to Frontonasal dysplasia 2, MIM# 613451; Parietal foramina 2, MIM# 609597
Fetal anomalies v0.122 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Fetal anomalies v0.120 ALX1 Zornitza Stark Marked gene: ALX1 as ready
Fetal anomalies v0.118 ALX1 Zornitza Stark changed review comment from: Two families reported with balletic variants in this gene and frontonasal dysplasia. Unclear whether intellectual disability is truly part of the phenotype or whether intellectual ability difficult to assess in presence of severe craniofacial abnormality.; to: Two families reported with balletic variants in this gene and frontonasal dysplasia, supportive animal models.
Fetal anomalies v0.118 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Fetal anomalies v0.118 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from KMT5B syndrome to Mental retardation, autosomal dominant 51, MIM#617788
Fetal anomalies v0.115 KMT5B Zornitza Stark changed review comment from: Multiple affected individuals from unrelated families.
Sources: Expert list; to: Multiple affected individuals from unrelated families. Predominantly presents with ID/autism, multiple congenital anomalies are not typically present.
Sources: Expert list
Fetal anomalies v0.115 ALPL Zornitza Stark Marked gene: ALPL as ready
Fetal anomalies v0.112 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Fetal anomalies v0.111 ALMS1 Zornitza Stark changed review comment from: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism; to: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism.

Congenital anomalies are a rare feature.
Fetal anomalies v0.111 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Fetal anomalies v0.109 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Fetal anomalies v0.107 ALG6 Zornitza Stark changed review comment from: Over 100 affected individuals reported.

PMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation.; to: Over 100 affected individuals reported. Mostly neurological features, though rare congenital anomalies such as missing phalanges reported.

PMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation.
Fetal anomalies v0.107 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Fetal anomalies v0.106 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Fetal anomalies v0.104 ALG12 Zornitza Stark changed review comment from: Two individuals reported as part of a CDH cohort.
Sources: Literature; to: Multiple congenital anomalies, including cardiac, skeletal, CDH reported.
Sources: Literature
Fetal anomalies v0.104 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Fetal anomalies v0.101 ADAR Zornitza Stark Marked gene: ADAR as ready
Fetal anomalies v0.101 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Fetal anomalies v0.101 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 to Aicardi-Goutieres syndrome 6, MIM# 615010
Fetal anomalies v0.100 ADAR Zornitza Stark Classified gene: ADAR as Red List (low evidence)
Fetal anomalies v0.100 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Fetal anomalies v0.99 ADAR Zornitza Stark reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.99 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Fetal anomalies v0.97 ALDOA Zornitza Stark changed review comment from: Only some patients have been reported to have developmental delay; some of these reports pre-date molecular characterisation of this disorder and therefore a firm link with ID is difficult to establish.; to: Typically presents with haemolytic anaemia post-natally.
Fetal anomalies v0.97 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Fetal anomalies v0.95 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Fetal anomalies v0.93 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Fetal anomalies v0.93 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from SJOEGREN-LARSSON SYNDROME to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Fetal anomalies v0.90 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Fetal anomalies v0.90 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from Isolated Arhinia/Bosma Arhinia syndrome to Bosma arhinia microphthalmia syndrome (MIM#603457)
Fetal anomalies v0.88 AGPS Zornitza Stark Marked gene: AGPS as ready
Fetal anomalies v0.87 AGPS Zornitza Stark changed review comment from: Variants in this gene cause a skeletal dysplasia, intellect typically normal.; to: Variants in this gene cause a skeletal dysplasia, including congenital contractures.
Fetal anomalies v0.87 AGL Zornitza Stark Marked gene: AGL as ready
Fetal anomalies v0.85 AGL Zornitza Stark changed review comment from: Presentation is typically with muscle, liver and cardiac involvement.; to: Presentation is typically with muscle, liver and cardiac involvement, can be childhood, but many are in adulthood.
Fetal anomalies v0.85 ACTB Zornitza Stark Marked gene: ACTB as ready
Fetal anomalies v0.85 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from ACTB Haploinsufficiency syndtome; BARAITSER-WINTER SYNDROME to Baraitser-Winter syndrome 1, MIM#243310
Fetal anomalies v0.84 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Fetal anomalies v0.84 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; CUTIS LAXA, AUTOSOMAL DOMINANT 3 to Cutis laxa, autosomal dominant 3, MIM# 616603; Cutis laxa, autosomal recessive, type IIIA, MIM# 219150
Fetal anomalies v0.81 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Fetal anomalies v0.78 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Fetal anomalies v0.76 AKT1 Zornitza Stark Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.74 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23246288, 21793738; Phenotypes: Cowden syndrome 6, MIM#615109, Proteus syndrome, somatic, MIM# 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.74 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Fetal anomalies v0.71 AHDC1 Zornitza Stark Marked gene: AHDC1 as ready
Fetal anomalies v0.68 AGTR1 Zornitza Stark Marked gene: AGTR1 as ready
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 v0.66 AGT Zornitza Stark Marked gene: AGT as ready
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 v0.64 AGK Zornitza Stark Marked gene: AGK as ready
Fetal anomalies v0.63 AFF4 Zornitza Stark Marked gene: AFF4 as ready
Fetal anomalies v0.59 ADNP Zornitza Stark Marked gene: ADNP as ready
Fetal anomalies v0.59 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Fetal anomalies v0.56 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
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 Marked gene: ADGRG1 as ready
Fetal anomalies v0.53 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from POLYMICROGYRIA to Polymicrogyria, bilateral frontoparietal, MIM#606854
Fetal anomalies v0.50 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Fetal anomalies v0.48 ADAMTSL2 Zornitza Stark changed review comment from: Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; however, theres is little evidence of intellectual disability in this disorder.; to: Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported.
Fetal anomalies v0.48 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Fetal anomalies v0.48 ADAMTS17 Zornitza Stark reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19836009, 22486325, 24940034; Phenotypes: Weill-Marchesani 4 syndrome, recessive, MIM# 613195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.48 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Fetal anomalies v0.48 ADAMTS10 Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome 1, recessive 277600 to Weill-Marchesani syndrome 1, recessive, MIM#277600
Fetal anomalies v0.46 ADAMTS10 Zornitza Stark changed review comment from: Mild intellectual disability is described in around 10% of affected individuals.; to: Associated with congenital anomalies.
Fetal anomalies v0.46 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Fetal anomalies v0.45 ACVR2B Zornitza Stark Marked gene: ACVR2B as ready
Fetal anomalies v0.45 ACVR2B Zornitza Stark Phenotypes for gene: ACVR2B were changed from Heterotaxy; Dextrocardia; polysplenia; Gut malrotation; Double outlet right ventricle; Transposition of the great arteries; asplenia; right-sided spleen to Heterotaxy, visceral, 4, autosomal 613751
Fetal anomalies v0.40 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Fetal anomalies v0.38 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Fetal anomalies v0.38 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from BARAITSER-WINTER SYNDROME to Baraitser-Winter syndrome 2, MIM#614583
Fetal anomalies v0.36 ACTG1 Zornitza Stark changed review comment from: Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list; to: Syndromic disorder, associated with multiple congenital abnormalities, including microphthalmia.

Sources: Expert list
Fetal anomalies v0.36 ACTC1 Zornitza Stark changed review comment from: Well established association with cardiomyopathies. Three families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD.
Fetal anomalies v0.36 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Fetal anomalies v0.36 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from Atrial septal defect 5 612794 to Atrial septal defect 5 612794; Cardiomyopathy, hypertrophic, 11 612098
Fetal anomalies v0.33 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 17947298; Phenotypes: Cardiomyopathy, hypertrophic, 11 612098, Atrial septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.33 ACTB Zornitza Stark changed review comment from: Iris coloboma is part of the phenotype.
Sources: Expert list; to: Severe perinatal disorder, multiple congenital anomalies associated.
Sources: Expert list
Fetal anomalies v0.33 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Fetal anomalies v0.32 ACTA1 Zornitza Stark edited their review of gene: ACTA1: Added comment: Severe perinatal neuromuscular disorders.; Changed rating: GREEN
Fetal anomalies v0.32 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Fetal anomalies v0.31 ACE Zornitza Stark Marked gene: ACE as ready
Fetal anomalies v0.31 ACE Zornitza Stark Phenotypes for gene: ACE were changed from Renal tubular dysgenesis 267430 to Renal tubular dysgenesis, MIM# 267430
Fetal anomalies v0.29 ACE Zornitza Stark reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.29 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Fetal anomalies v0.27 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Fetal anomalies v0.22 ACTA2 Krithika Murali edited their review of gene: ACTA2: Added comment: Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder.

More than 40 unrelated individuals reported, missense at p.Arg179 position.; Changed rating: GREEN; Changed publications: 20734336, 29300374; Changed phenotypes: Multisystemic smooth muscle dysfunction syndrome - MIM# 613834
Fetal anomalies v0.17 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Fetal anomalies v0.17 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Fetal anomalies v0.16 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26475292; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.15 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Fetal anomalies v0.15 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from CHANARIN-DORFMAN SYNDROME to Chanarin-Dorfman syndrome, MIM# 275630
Fetal anomalies v0.13 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Chanarin-Dorfman syndrome, MIM# 275630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.13 ABCC9 Zornitza Stark Marked gene: ABCC9 as ready
Fetal anomalies v0.11 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Fetal anomalies v0.11 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 to Arterial calcification, generalized, of infancy, 2, MIM# 614473
Fetal anomalies v0.10 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.10 ABCA12 Zornitza Stark Marked gene: ABCA12 as ready
Fetal anomalies v0.10 ABCA12 Zornitza Stark Phenotypes for gene: ABCA12 were changed from Ichthyosis, congenital, autosomal recessive 242500 to Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500
Fetal anomalies v0.9 ABCA12 Zornitza Stark reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.9 AAAS Zornitza Stark Marked gene: AAAS as ready
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 29575618; 28040389; 29691892
Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis
Fetal anomalies v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51; BARDET-BIEDL SYNDROME TYPE 8
Fetal anomalies v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN54 were set to 16470708; 20952379; 20956791
Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 4, OMIM:225753; Pontocerebellar hypoplasia type 2A, OMIM:277470
Fetal anomalies v0.0 TRPV6 Zornitza Stark gene: TRPV6 was added
gene: TRPV6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188; Transient Neonatal Hyperparathyroidism
Fetal anomalies v0.0 TRIP4 Zornitza Stark gene: TRIP4 was added
gene: TRIP4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP4 were set to 26924529; 27008887
Phenotypes for gene: TRIP4 were set to 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
Fetal anomalies v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Fetal anomalies v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13
Fetal anomalies v0.0 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569
Phenotypes for gene: TRAF7 were set to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164
Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments
Fetal anomalies v0.0 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TPM2 were set to 12592607; 17339586
Phenotypes for gene: TPM2 were set to Arthrogryposis multiplex congenita, distal, type 1, 108120; Arthrogryposis, distal, type 2B, 601680; ARTHROGRYPOSIS, DISTAL, TYPE 1
Mode of pathogenicity for gene: TPM2 was set to Other
Fetal anomalies v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; LIMB-MAMMARY SYNDROME
Fetal anomalies v0.0 TNNI2 Zornitza Stark gene: TNNI2 was added
gene: TNNI2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680
Fetal anomalies v0.0 TMEM94 Zornitza Stark gene: TMEM94 was added
gene: TMEM94 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to PMID: 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
Fetal anomalies v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Fetal anomalies v0.0 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2B were set to CHAR SYNDROME
Fetal anomalies v0.0 TBX4 Zornitza Stark gene: TBX4 was added
gene: TBX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Fetal anomalies v0.0 TBX3 Zornitza Stark gene: TBX3 was added
gene: TBX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME
Fetal anomalies v0.0 TBX18 Zornitza Stark gene: TBX18 was added
gene: TBX18 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
Fetal anomalies v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; KENNY-CAFFEY SYNDROME TYPE 1
Fetal anomalies v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646; Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193
Fetal anomalies v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS; DOORS SYNDROME; MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
Fetal anomalies v0.0 TBC1D23 Zornitza Stark gene: TBC1D23 was added
gene: TBC1D23 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia
Fetal anomalies v0.0 TBC1D20 Zornitza Stark gene: TBC1D20 was added
gene: TBC1D20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D20 were set to 24239381
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4; Warburg micro syndrome 4 615663
Fetal anomalies v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to BARTH SYNDROME
Fetal anomalies v0.0 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2
Fetal anomalies v0.0 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA
Fetal anomalies v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME
Fetal anomalies v0.0 SRCAP Zornitza Stark gene: SRCAP was added
gene: SRCAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME
Fetal anomalies v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11
Fetal anomalies v0.0 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY
Fetal anomalies v0.0 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.0 SPAG1 Zornitza Stark gene: SPAG1 was added
gene: SPAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.
Fetal anomalies v0.0 SOX3 Zornitza Stark gene: SOX3 was added
gene: SOX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOX3 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: SOX3 were set to Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123
Fetal anomalies v0.0 SOX10 Zornitza Stark gene: SOX10 was added
gene: SOX10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to KALLMANN SYNDROME WITH DEAFNESS; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; WAARDENBURG SYNDROME TYPE 4C; WAARDENBURG SYNDROME TYPE 2E; YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
Fetal anomalies v0.0 SNX14 Zornitza Stark gene: SNX14 was added
gene: SNX14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Fetal anomalies v0.0 SNRPB Zornitza Stark gene: SNRPB was added
gene: SNRPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME
Fetal anomalies v0.0 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMN1 were set to 32644125; 11826188; 32644120
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy 253400; Spinal muscular atrophy 271150; Spinal muscular atrophy 253550; Spinal muscular atrophy 253300
Fetal anomalies v0.0 SMCHD1 Zornitza Stark gene: SMCHD1 was added
gene: SMCHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome
Fetal anomalies v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1; ?COFFIN-SIRIS SYNDROME
Fetal anomalies v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS; RHABDOID TUMOR PREDISPOSITION SYNDROME 2
Fetal anomalies v0.0 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS; NICOLAIDES-BARAITSER SYNDROME
Fetal anomalies v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD4 were set to JUVENILE POLYPOSIS SYNDROME; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
Fetal anomalies v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy
Fetal anomalies v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Fetal anomalies v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME
Fetal anomalies v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type 214700
Fetal anomalies v0.0 SLC25A24 Zornitza Stark gene: SLC25A24 was added
gene: SLC25A24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Fetal anomalies v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Fetal anomalies v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1 601678
Fetal anomalies v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800
Fetal anomalies v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5; TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME; HOLOPROSENCEPHALY TYPE 3; SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Fetal anomalies v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME
Fetal anomalies v0.0 SETD5 Zornitza Stark gene: SETD5 was added
gene: SETD5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Fetal anomalies v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 26805434; 26888482; 29464431
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
Fetal anomalies v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 15210538; 18924171
Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Fetal anomalies v0.0 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN4A were set to HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPOKALEMIC PERIODIC PARALYSIS
Fetal anomalies v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME
Fetal anomalies v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME
Fetal anomalies v0.0 SALL4 Zornitza Stark gene: SALL4 was added
gene: SALL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME; DUANE-RADIAL RAY SYNDROME
Fetal anomalies v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to BRACHYDACTYLY, TYPE B1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT; ROR2-RELATED DISORDERS AR
Fetal anomalies v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Fetal anomalies v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3
Fetal anomalies v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2
Fetal anomalies v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4
Fetal anomalies v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA
Fetal anomalies v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME
Fetal anomalies v0.0 REN Zornitza Stark gene: REN was added
gene: REN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REN were set to 31736371
Phenotypes for gene: REN were set to Renal tubular dysgenesis 267430
Fetal anomalies v0.0 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
Fetal anomalies v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS2 were set to 26083569
Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6
Fetal anomalies v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Fetal anomalies v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME
Fetal anomalies v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1
Fetal anomalies v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3
Fetal anomalies v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 30266093; 28425981
Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1; NOONAN SYNDROME 1
Fetal anomalies v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION; EIKEN SKELETAL DYSPLASIA; CHONDRODYSPLASIA BLOMSTRAND TYPE; JANSEN METAPHYSEAL CHONDRODYSPLASIA
Fetal anomalies v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to PANCREATIC AGENESIS; DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
Fetal anomalies v0.0 PTDSS1 Zornitza Stark gene: PTDSS1 was added
gene: PTDSS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Fetal anomalies v0.0 PRMT7 Zornitza Stark gene: PRMT7 was added
gene: PRMT7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder
Fetal anomalies v0.0 PRKD1 Zornitza Stark gene: PRKD1 was added
gene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKD1 were set to 32817298; 33919081; 27479907; 25713110
Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects
Fetal anomalies v0.0 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS
Fetal anomalies v0.0 PRG4 Zornitza Stark gene: PRG4 was added
gene: PRG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250
Fetal anomalies v0.0 PPP1CB Zornitza Stark gene: PPP1CB was added
gene: PPP1CB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair
Fetal anomalies v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2
Fetal anomalies v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1
Fetal anomalies v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 24556084; 24925318; 23519211
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249
Fetal anomalies v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME
Fetal anomalies v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3
Fetal anomalies v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to PRIMORDIAL DWARFISM; SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
Fetal anomalies v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to ATAXIA-OCULOMOTOR APRAXIA 4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
Fetal anomalies v0.0 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PKD1 were set to 23624871; 20558538
Phenotypes for gene: PKD1 were set to Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD); Polycystic kidney disease, 173900
Fetal anomalies v0.0 PITX3 Zornitza Stark gene: PITX3 was added
gene: PITX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX3 were set to CATARACT AUTOSOMAL DOMINANT; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CATARACT POSTERIOR POLAR TYPE 4
Fetal anomalies v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3CA were set to 30712880; 28425981
Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI; HEMIMEGALENCEPHALY PIK3CA; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3
Fetal anomalies v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION
Fetal anomalies v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
Fetal anomalies v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception; ARTHROGRYPOSIS, DISTAL, TYPE 3
Fetal anomalies v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
Fetal anomalies v0.0 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
Fetal anomalies v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Fetal anomalies v0.0 PCGF2 Zornitza Stark gene: PCGF2 was added
gene: PCGF2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PCGF2 were set to 30526864
Phenotypes for gene: PCGF2 were set to Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability; INTELLECTUAL DUSBILITY
Fetal anomalies v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to COLOBOMA OF OPTIC NERVE; FOVEAL HYPOPLASIA; ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY; PETERS ANOMALY; KERATITIS HEREDITARY; ANIRIDIA; BILATERAL OPTIC NERVE HYPOPLASIA
Fetal anomalies v0.0 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX3 were set to CRANIOFACIAL-DEAFNESS-HAND SYNDROME; WAARDENBURG SYNDROME, TYPE 1
Fetal anomalies v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6
Fetal anomalies v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PAK3 were set to 24556213
Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM; MENTAL RETARDATION X-LINKED TYPE 30
Fetal anomalies v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Fetal anomalies v0.0 NUP107 Zornitza Stark gene: NUP107 was added
gene: NUP107 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
Fetal anomalies v0.0 NR2F2 Zornitza Stark gene: NR2F2 was added
gene: NR2F2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
Fetal anomalies v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE
Fetal anomalies v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH1 were set to ADAMS OLIVER SYNDROME; LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION
Fetal anomalies v0.0 NOG Zornitza Stark gene: NOG was added
gene: NOG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME; TARSAL-CARPAL COALITION SYNDROME; MULTIPLE SYNOSTOSES SYNDROME TYPE 1; BRACHYDACTYLY TYPE B2; STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
Fetal anomalies v0.0 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-5 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5; TETRALOGY OF FALLOT; ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
Fetal anomalies v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NHS were set to CATARACT CONGENITAL X-LINKED; NANCE-HORAN SYNDROME
Fetal anomalies v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291
Fetal anomalies v0.0 NFIX Zornitza Stark gene: NFIX was added
gene: NFIX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME; MARSHALL-SMITH SYNDROME
Fetal anomalies v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF5 were set to 30266093; 18940309; 21620786
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238
Fetal anomalies v0.0 NALCN Zornitza Stark gene: NALCN was added
gene: NALCN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY
Fetal anomalies v0.0 NACC1 Zornitza Stark gene: NACC1 was added
gene: NACC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Fetal anomalies v0.0 MYT1 Zornitza Stark gene: MYT1 was added
gene: MYT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYT1 were set to 28612832; 27358179
Phenotypes for gene: MYT1 were set to Oculo-auriculo-vertebral spectrum (OAVS); OAVS/Goldenhar syndrome
Mode of pathogenicity for gene: MYT1 was set to Other
Fetal anomalies v0.0 MYRF Zornitza Stark gene: MYRF was added
gene: MYRF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYRF were set to 30985895; 30070761; 31069960; 29446546; 30532227
Phenotypes for gene: MYRF were set to Congenital diaphragmatic hernia (CDH); Cardiac-urogenital syndrome, 618280; Disorders of sex development (DSD)
Fetal anomalies v0.0 MYH8 Zornitza Stark gene: MYH8 was added
gene: MYH8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE
Fetal anomalies v0.0 MYH6 Zornitza Stark gene: MYH6 was added
gene: MYH6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYH6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14; CARDIOMYOPATHY DILATED TYPE 1EE
Fetal anomalies v0.0 MYH3 Zornitza Stark gene: MYH3 was added
gene: MYH3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2A; DISTAL ARTHROGRYPOSIS TYPE 2B
Fetal anomalies v0.0 MYBPC1 Zornitza Stark gene: MYBPC1 was added
gene: MYBPC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYBPC1 were set to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Fetal anomalies v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS
Fetal anomalies v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED
Fetal anomalies v0.0 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM; CRANIOSYNOSTOSIS, TYPE 2
Fetal anomalies v0.0 MSL3 Zornitza Stark gene: MSL3 was added
gene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MSL3 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: MSL3 were set to 30224647
Phenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome, 301032; MSL3 syndrome
Fetal anomalies v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME
Fetal anomalies v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY
Fetal anomalies v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1; BARDET-BIEDL SYNDROME TYPE 13
Fetal anomalies v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to BARDET-BIEDL SYNDROME TYPE 6; MCKUSICK-KAUFMAN SYNDROME
Fetal anomalies v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME
Fetal anomalies v0.0 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA
Fetal anomalies v0.0 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
Fetal anomalies v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1
Fetal anomalies v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome 308205; Keratosis follicularis spinulosa decalvans, X-linked 308800
Fetal anomalies v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.0 MAGEL2 Zornitza Stark gene: MAGEL2 was added
gene: MAGEL2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MAGEL2 were set to 26365340; 27195816
Phenotypes for gene: MAGEL2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547; Schaaf-Yang syndrome
Fetal anomalies v0.0 MAFB Zornitza Stark gene: MAFB was added
gene: MAFB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
Fetal anomalies v0.0 MAF Zornitza Stark gene: MAF was added
gene: MAF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAF were set to CATARACT CONGENITAL CERULEAN TYPE 4; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED; CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
Fetal anomalies v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 615994
Fetal anomalies v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA
Fetal anomalies v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to DONNAI-BARROW SYNDROME
Fetal anomalies v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to LETHAL TIGHT SKIN CONTRACTURE SYNDROME; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; HUTCHINSON-GILFORD PROGERIA SYNDROME; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE; CARDIOMYOPATHY DILATED TYPE 1A; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B
Fetal anomalies v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Schwartz-Jampel type 2 syndrome; Stuve-Wiedemann syndrome
Fetal anomalies v0.0 LHX4 Zornitza Stark gene: LHX4 was added
gene: LHX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3
Fetal anomalies v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA
Fetal anomalies v0.0 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME
Fetal anomalies v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6
Fetal anomalies v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY
Fetal anomalies v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY
Fetal anomalies v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA
Fetal anomalies v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: L1CAM were set to 30712878; 28425981
Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME; PARTIAL AGENESIS OF THE CORPUS CALLOSUM; HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS; SPASTIC PARAPLEGIA X-LINKED TYPE 1
Fetal anomalies v0.0 KYNU Zornitza Stark gene: KYNU was added
gene: KYNU was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 28792876
Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2 617661
Fetal anomalies v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to NOONAN SYNDROME TYPE 3; CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; ACROCALLOSAL SYNDROME
Fetal anomalies v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to NESCAV SYNDROME, 614255; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213
Fetal anomalies v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED
Fetal anomalies v0.0 KCTD1 Zornitza Stark gene: KCTD1 was added
gene: KCTD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME
Fetal anomalies v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome 241200
Fetal anomalies v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
Fetal anomalies v0.0 KAT6A Zornitza Stark gene: KAT6A was added
gene: KAT6A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
Fetal anomalies v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME
Fetal anomalies v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS; JOUBERT SYNDROME TYPE 1
Fetal anomalies v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21
Fetal anomalies v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Fetal anomalies v0.0 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 25542954
Phenotypes for gene: IFIH1 were set to SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7
Mode of pathogenicity for gene: IFIH1 was set to Other
Fetal anomalies v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1H; MUCOPOLYSACCHARIDOSIS TYPE 1H/S; MUCOPOLYSACCHARIDOSIS TYPE 1S
Fetal anomalies v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2
Fetal anomalies v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 27426735
Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Fetal anomalies v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
Fetal anomalies v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, MONDO:0009717; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140; Schwartz-Jampel syndrome, type 1, OMIM:255800; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410
Fetal anomalies v0.0 HSF4 Zornitza Stark gene: HSF4 was added
gene: HSF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSF4 were set to CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE
Fetal anomalies v0.0 HR Zornitza Stark gene: HR was added
gene: HR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HR were set to ATRICHIA WITH PAPULAR LESIONS; ALOPECIA UNIVERSALIS
Fetal anomalies v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to COBALAMIN DISORDER; MENTAL RETARDATION, X-LINKED 3
Fetal anomalies v0.0 HAAO Zornitza Stark gene: HAAO was added
gene: HAAO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 617660
Fetal anomalies v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7
Fetal anomalies v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS; FAMILIAL DIARRHEA DIARRHEA 6
Fetal anomalies v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
Fetal anomalies v0.0 GRIN2B Zornitza Stark gene: GRIN2B was added
gene: GRIN2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2B were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; AUTISM; EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D
Fetal anomalies v0.0 GNB1 Zornitza Stark gene: GNB1 was added
gene: GNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855
Fetal anomalies v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
Fetal anomalies v0.0 GNAI3 Zornitza Stark gene: GNAI3 was added
gene: GNAI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Fetal anomalies v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Fetal anomalies v0.0 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDN were set to Lethal arthroogryposis
Fetal anomalies v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to GM1-GANGLIOSIDOSIS TYPE 1; GM1-GANGLIOSIDOSIS TYPE 2; GM1-GANGLIOSIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS TYPE 4B
Fetal anomalies v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC; SPASTIC PARAPLEGIA, 44; LEUKODYSTROPHY, HYPOMYELINATING, 2
Fetal anomalies v0.0 GJA8 Zornitza Stark gene: GJA8 was added
gene: GJA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1; CATARACT-MICROCORNEA SYNDROME
Fetal anomalies v0.0 GJA3 Zornitza Stark gene: GJA3 was added
gene: GJA3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
Fetal anomalies v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA
Fetal anomalies v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF1 were set to 17924340; PMID: 20413652; 28991257
Phenotypes for gene: GDF1 were set to Right atrial isomerism (Ivemark); Congenital heart defects, multiple types
Fetal anomalies v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1
Fetal anomalies v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Fetal anomalies v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9
Fetal anomalies v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A
Fetal anomalies v0.0 FYCO1 Zornitza Stark gene: FYCO1 was added
gene: FYCO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
Fetal anomalies v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Fetal anomalies v0.0 FRMD4A Zornitza Stark gene: FRMD4A was added
gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071
Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Fetal anomalies v0.0 FOXG1 Zornitza Stark gene: FOXG1 was added
gene: FOXG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630
Phenotypes for gene: FOXG1 were set to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270
Fetal anomalies v0.0 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
Fetal anomalies v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA
Fetal anomalies v0.0 FOXE1 Zornitza Stark gene: FOXE1 was added
gene: FOXE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME
Fetal anomalies v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME; HEREDITARY LYMPHEDEMA II
Fetal anomalies v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to BOOMERANG DYSPLASIA; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; ATELOSTEOGENESIS TYPE 3; AUTOSOMAL DOMINANT LARSEN SYNDROME; ATELOSTEOGENESIS TYPE 1
Fetal anomalies v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FLNA 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: FLNA were set to 30712878; 28425981
Phenotypes for gene: FLNA were set to PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1; EPILEPTIC ENCEPHALOPATHY; FG SYNDROME TYPE 2; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; MELNICK-NEEDLES SYNDROME; FRONTOMETAPHYSEAL DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 2; TERMINAL OSSEOUS DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 1
Fetal anomalies v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4; CARDIOMYOPATHY DILATED TYPE 1X; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4
Fetal anomalies v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5
Fetal anomalies v0.0 FKBP14 Zornitza Stark gene: FKBP14 was added
gene: FKBP14 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Fetal anomalies v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to FUMARASE DEFICIENCY
Fetal anomalies v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR3 were set to CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; ACHONDROPLASIA; THANATOPHORIC DYSPLASIA TYPE 2; HYPOCHONDROPLASIA; MUENKE SYNDROME; THANATOPHORIC DYSPLASIA TYPE 1; CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
Fetal anomalies v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR2 were set to 28425981
Phenotypes for gene: FGFR2 were set to JACKSON-WEISS SYNDROME; FAMILIAL SCAPHOCEPHALY SYNDROME; CROUZON SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; BEARE-STEVENSON CUTIS GYRATA SYNDROME; ACROCEPHALOSYNDACTYLY TYPE V; APERT SYNDROME; ANTLEY-BIXLER SYNDROME
Fetal anomalies v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR1 were set to Hartsfield syndrome; Encephalocraniocutaneous lipomatosis; OSTEOGLOPHONIC DYSPLASIA; KALLMANN SYNDROME TYPE 2; PFEIFFER SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME
Fetal anomalies v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBN2 were set to 25558065; 7493032; 28383543; 33571691
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
Fetal anomalies v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 30266093
Phenotypes for gene: FBN1 were set to MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; MARFAN SYNDROME; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Fetal anomalies v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
Fetal anomalies v0.0 FAR1 Zornitza Stark gene: FAR1 was added
gene: FAR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Fetal anomalies v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM58A 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: FAM58A were set to STAR SYNDROME
Fetal anomalies v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1; TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2
Fetal anomalies v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C
Fetal anomalies v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B
Fetal anomalies v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A
Fetal anomalies v0.0 ERF Zornitza Stark gene: ERF was added
gene: ERF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ERF were set to Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; COMPLEX CRANIOSYNOSTOSIS
Fetal anomalies v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to PRIMORDIAL DWARFISM; Xeroderma pigmentosum, group F, 278760; XERODERMA PIGMENTOSUM, GROUP F; XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q
Fetal anomalies v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Fetal anomalies v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to 26247046
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Fetal anomalies v0.0 ELOVL4 Zornitza Stark gene: ELOVL4 was added
gene: ELOVL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Fetal anomalies v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA; SUPRAVALVAR AORTIC STENOSIS
Fetal anomalies v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY
Fetal anomalies v0.0 ECEL1 Zornitza Stark gene: ECEL1 was added
gene: ECEL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D
Fetal anomalies v0.0 DYRK1A Zornitza Stark gene: DYRK1A was added
gene: DYRK1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Fetal anomalies v0.0 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD; SEVERE ID WITH NEURONAL MIGRATION DISORDER
Fetal anomalies v0.0 DSTYK Zornitza Stark gene: DSTYK was added
gene: DSTYK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
Fetal anomalies v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSP were set to 30993396
Phenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Skin fragility-woolly hair syndrome 607655; Epidermolysis bullosa, lethal acantholytic 609638; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Keratosis palmoplantaris striata II, 612908
Fetal anomalies v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; DPAGT1-CDG
Fetal anomalies v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia 244400
Fetal anomalies v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy
Fetal anomalies v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia 611884
Fetal anomalies v0.0 DNAAF4 Zornitza Stark gene: DNAAF4 was added
gene: DNAAF4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA
Fetal anomalies v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763
Fetal anomalies v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia 613193
Fetal anomalies v0.0 DDX3X Zornitza Stark gene: DDX3X was added
gene: DDX3X was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DDX3X 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: DDX3X were set to 30266093; 26235985; 25533962
Phenotypes for gene: DDX3X were set to Intellectual disability; INTELLECTUAL DIABILITY; Mental retardation, X-linked 102, 300958
Fetal anomalies v0.0 DDX11 Zornitza Stark gene: DDX11 was added
gene: DDX11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME
Fetal anomalies v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
Fetal anomalies v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Fetal anomalies v0.0 DAG1 Zornitza Stark gene: DAG1 was added
gene: DAG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Fetal anomalies v0.0 CYP2U1 Zornitza Stark gene: CYP2U1 was added
gene: CYP2U1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA
Fetal anomalies v0.0 CYP1B1 Zornitza Stark gene: CYP1B1 was added
gene: CYP1B1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Fetal anomalies v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11A1 were set to 28425981
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743
Fetal anomalies v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE
Fetal anomalies v0.0 CTNNB1 Zornitza Stark gene: CTNNB1 was added
gene: CTNNB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNNB1 were set to 27915094
Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Fetal anomalies v0.0 CRYGD Zornitza Stark gene: CRYGD was added
gene: CRYGD was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGD were set to CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3
Fetal anomalies v0.0 CRYGC Zornitza Stark gene: CRYGC was added
gene: CRYGC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT
Fetal anomalies v0.0 CRYBB3 Zornitza Stark gene: CRYBB3 was added
gene: CRYBB3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.0 CRYBB2 Zornitza Stark gene: CRYBB2 was added
gene: CRYBB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE; CATARACT, CONGENITAL, CERULEAN TYPE, 2
Fetal anomalies v0.0 CRYBB1 Zornitza Stark gene: CRYBB1 was added
gene: CRYBB1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB1 were set to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.0 CRYBA4 Zornitza Stark gene: CRYBA4 was added
gene: CRYBA4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2
Fetal anomalies v0.0 CRYBA1 Zornitza Stark gene: CRYBA1 was added
gene: CRYBA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES
Fetal anomalies v0.0 CRYAA Zornitza Stark gene: CRYAA was added
gene: CRYAA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR
Fetal anomalies v0.0 COX7B Zornitza Stark gene: COX7B was added
gene: COX7B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COX7B 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: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Fetal anomalies v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7
Fetal anomalies v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to DYSTONIA 27; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
Fetal anomalies v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810
Fetal anomalies v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA; SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; ACHONDROGENESIS TYPE 2; SPONDYLOPERIPHERAL DYSPLASIA
Fetal anomalies v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
Fetal anomalies v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Fetal anomalies v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT
Fetal anomalies v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type 602541
Fetal anomalies v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5
Fetal anomalies v0.0 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CFC1 were set to 11062482; 11799476
Phenotypes for gene: CFC1 were set to Heterotaxy, visceral, 2, autosomal, 605376; CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS
Fetal anomalies v0.0 CFAP53 Zornitza Stark gene: CFAP53 was added
gene: CFAP53 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 26531781; PMID: 25504577
Phenotypes for gene: CFAP53 were set to inverted spleen; midline liver; Dextrocardia; Heterotaxy, visceral, 6, autosomal recessive; Transposition of the great arteries; gut malrotation
Fetal anomalies v0.0 CEP57 Zornitza Stark gene: CEP57 was added
gene: CEP57 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Fetal anomalies v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to LEBER CONGENITAL AMAUROSIS TYPE 10; BARDET-BIEDL SYNDROME TYPE 14; JOUBERT SYNDROME TYPE 5; SENIOR-LOKEN SYNDROME TYPE 6; MECKEL SYNDROME TYPE 4
Fetal anomalies v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4
Fetal anomalies v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6
Fetal anomalies v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDKL5 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: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2
Fetal anomalies v0.0 CDK13 Zornitza Stark gene: CDK13 was added
gene: CDK13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Fetal anomalies v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to EEM SYNDROME; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Fetal anomalies v0.0 CDH1 Zornitza Stark gene: CDH1 was added
gene: CDH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome
Fetal anomalies v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15
Fetal anomalies v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14
Fetal anomalies v0.0 CCDC114 Zornitza Stark gene: CCDC114 was added
gene: CCDC114 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CASK 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: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED; MRX WITH/WITHOUT NYSTAGMUS; FG SYNDROME TYPE 4
Fetal anomalies v0.0 CA8 Zornitza Stark gene: CA8 was added
gene: CA8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3
Fetal anomalies v0.0 C11orf70 Zornitza Stark gene: C11orf70 was added
gene: C11orf70 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C11orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C11orf70 were set to 29727692; 29727693
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Fetal anomalies v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A
Fetal anomalies v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7; CARDIOFACIOCUTANEOUS SYNDROME; LEOPARD SYNDROME TYPE 3
Fetal anomalies v0.0 BMP2 Zornitza Stark gene: BMP2 was added
gene: BMP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Brachydactyly, type A2 112600
Fetal anomalies v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2
Fetal anomalies v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to 27751653; 30054298; 29274205; 28635954
Phenotypes for gene: BICD2 were set to reduced fetal movements; PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); hydrops fetalis; Pterygium
Mode of pathogenicity for gene: BICD2 was set to Other
Fetal anomalies v0.0 BFSP2 Zornitza Stark gene: BFSP2 was added
gene: BFSP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED
Fetal anomalies v0.0 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Fetal anomalies v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9
Fetal anomalies v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7
Fetal anomalies v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5
Fetal anomalies v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS4 were set to 28425981
Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4
Fetal anomalies v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2
Fetal anomalies v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12
Fetal anomalies v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10
Fetal anomalies v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 MONDO:0008854; Bardet-Biedl syndrome 1 OMIM:209900
Fetal anomalies v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
Fetal anomalies v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE; MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1
Fetal anomalies v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 23035047
Phenotypes for gene: ATP7A were set to SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; MENKES DISEASE; OCCIPITAL HORN SYNDROME
Fetal anomalies v0.0 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATAD3A were set to 33845882; 28549128; 28158749; 29053797; 32607449; 32004445; 33575671; 31727539; 28327206; 27640307
Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Harel-Yoon syndrome, OMIM:617183
Mode of pathogenicity for gene: ATAD3A 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 ASPM Zornitza Stark gene: ASPM was added
gene: ASPM was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Fetal anomalies v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency 615574
Fetal anomalies v0.0 ASCC1 Zornitza Stark gene: ASCC1 was added
gene: ASCC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to 28749478; 26924529; 30327447
Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; hypotonia; contractures; fetal akinesia; arthrogryposis
Fetal anomalies v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY; FARBER LIPOGRANULOMATOSIS
Fetal anomalies v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1; PARTINGTON SYNDROME; MENTAL RETARDATION X-LINKED ARX-RELATED; LISSENCEPHALY X-LINKED TYPE 2
Fetal anomalies v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Fetal anomalies v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6
Fetal anomalies v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY
Fetal anomalies v0.0 ARMC9 Zornitza Stark gene: ARMC9 was added
gene: ARMC9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
Fetal anomalies v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23
Fetal anomalies v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to RETINITIS PIGMENTOSA TYPE 55; BARDET-BIEDL SYNDROME TYPE 3
Fetal anomalies v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL13B were set to 25138100; 18674751; 29255182
Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291
Fetal anomalies v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
Fetal anomalies v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME
Fetal anomalies v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1
Fetal anomalies v0.0 ARCN1 Zornitza Stark gene: ARCN1 was added
gene: ARCN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARCN1 were set to 27476655
Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164; Microcephalic dwarfism
Fetal anomalies v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME
Fetal anomalies v0.0 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4E1 were set to Hereditary spastic paraplegia 51, MONDO:0013401; Spastic paraplegia 51, autosomal recessive, OMIM:613744
Fetal anomalies v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA
Fetal anomalies v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2; PARIETAL FORAMINA 2
Fetal anomalies v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME
Fetal anomalies v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; CUTIS LAXA, AUTOSOMAL DOMINANT 3
Fetal anomalies v0.0 ADNP Zornitza Stark gene: ADNP was added
gene: ADNP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28
Fetal anomalies v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
Fetal anomalies v0.0 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 19836009; 22486325; 30712880; 24940034
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, 613195
Fetal anomalies v0.0 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive 277600
Fetal anomalies v0.0 ACVR2B Zornitza Stark gene: ACVR2B was added
gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489
Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; polysplenia; Gut malrotation; Double outlet right ventricle; Transposition of the great arteries; asplenia; right-sided spleen
Fetal anomalies v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME
Fetal anomalies v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to ACTB Haploinsufficiency syndtome; BARAITSER-WINTER SYNDROME
Fetal anomalies v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACE were set to 30058238
Phenotypes for gene: ACE were set to Renal tubular dysgenesis 267430
Fetal anomalies v0.0 ABHD5 Zornitza Stark gene: ABHD5 was added
gene: ABHD5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME
Fetal anomalies v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2