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Fetal anomalies v0.3872 SOX17 Zornitza Stark Publications for gene: SOX17 were set to
Fetal anomalies v0.3871 SOX17 Zornitza Stark Mode of inheritance for gene: SOX17 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3870 SOX17 Zornitza Stark Classified gene: SOX17 as Red List (low evidence)
Fetal anomalies v0.3870 SOX17 Zornitza Stark Gene: sox17 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3869 STAR Belinda Chong reviewed gene: STAR: Rating: RED; Mode of pathogenicity: None; Publications: 7892608, 8948562, 9097960, 11061515, 11297612, 14764819, 16968793, 9326645; Phenotypes: Lipoid adrenal hyperplasia MIM#201710; Mode of inheritance: None
Fetal anomalies v0.3869 SRD5A2 Daniel Flanagan reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12843198, 11869378, 18350250, 1944596; Phenotypes: Pseudovaginal perineoscrotal hypospadias (MIM#264600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3869 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Fetal anomalies v0.3869 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3869 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751; intellectual disability, autosomal recessive
Fetal anomalies v0.3868 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Fetal anomalies v0.3867 PRRT2 Zornitza Stark changed review comment from: ID is not part of the phenotype for the mono allelic conditions; two families described with bi-allelic variants and more severe neurological phenotype, including ID.; to: Clinical presentation is typically post-natal.
Fetal anomalies v0.3867 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed rating: RED
Fetal anomalies v0.3867 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Fetal anomalies v0.3867 PPM1D Zornitza Stark Gene: ppm1d has been classified as Red List (Low Evidence).
Fetal anomalies v0.3867 PPM1D Zornitza Stark Phenotypes for gene: PPM1D were changed from PPM1D syndrome to Jansen de Vries syndrome (MIM #617450)
Fetal anomalies v0.3866 PPM1D Zornitza Stark Publications for gene: PPM1D were set to
Fetal anomalies v0.3865 PPM1D Zornitza Stark Mode of inheritance for gene: PPM1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3864 PPM1D Zornitza Stark reviewed gene: PPM1D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jansen de Vries syndrome (MIM #617450); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3864 POLG Zornitza Stark Marked gene: POLG as ready
Fetal anomalies v0.3864 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3864 POLG Zornitza Stark Phenotypes for gene: POLG were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 4A to POLG-related disorders
Fetal anomalies v0.3863 POLG Zornitza Stark Publications for gene: POLG were set to
Fetal anomalies v0.3862 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3861 POLG Zornitza Stark Classified gene: POLG as Amber List (moderate evidence)
Fetal anomalies v0.3861 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3860 POLG Zornitza Stark changed review comment from: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants.

Fetal presentation with cerebellar abnormalities reported PMID 29574624.; to: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants, though onset may be later.

Fetal presentation with cerebellar abnormalities reported PMID 29574624.
Fetal anomalies v0.3860 POLG Zornitza Stark edited their review of gene: POLG: Changed rating: AMBER
Fetal anomalies v0.3860 POLG Zornitza Stark changed review comment from: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants.; to: Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants.

Fetal presentation with cerebellar abnormalities reported PMID 29574624.
Fetal anomalies v0.3860 POLG Zornitza Stark edited their review of gene: POLG: Changed publications: 20301791, 29358615, 22405928, 29574624
Fetal anomalies v0.3860 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Fetal anomalies v0.3860 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3860 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381
Fetal anomalies v0.3859 POLD1 Zornitza Stark Publications for gene: POLD1 were set to
Fetal anomalies v0.3858 POLD1 Zornitza Stark Mode of inheritance for gene: POLD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3857 POLD1 Zornitza Stark Classified gene: POLD1 as Green List (high evidence)
Fetal anomalies v0.3857 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3856 POLD1 Zornitza Stark Deleted their comment
Fetal anomalies v0.3856 POLD1 Zornitza Stark edited their review of gene: POLD1: Added comment: Four unrelated individuals with deletion of ser605 residue reported. Mandibular hypoplasia would be identifiable antenatally.; Changed rating: GREEN; Changed publications: 23770608; Changed phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3856 SOX9 Daniel Flanagan reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9002675; Phenotypes: Campomelic dysplasia with autosomal sex reversal (MIM#114290), Campomelic dysplasia (MIM#114290), Acampomelic campomelic dysplasia (MIM#114290); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3856 PDHB Zornitza Stark Marked gene: PDHB as ready
Fetal anomalies v0.3856 PDHB Zornitza Stark Gene: pdhb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3856 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, 614111 to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111
Fetal anomalies v0.3855 PDHB Zornitza Stark Publications for gene: PDHB were set to 26865159
Fetal anomalies v0.3854 PDHB Zornitza Stark Classified gene: PDHB as Amber List (moderate evidence)
Fetal anomalies v0.3854 PDHB Zornitza Stark Gene: pdhb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3853 PDHB Zornitza Stark Deleted their comment
Fetal anomalies v0.3853 PDHB Zornitza Stark edited their review of gene: PDHB: Changed rating: AMBER
Fetal anomalies v0.3853 PDHB Zornitza Stark edited their review of gene: PDHB: Added comment: Fetal presentation at 22 weeks reported with intrauterine growth retardation, short corpus callosum, ventricular dilation, and cerebellar hypoplasia, PMID 26865159.; Changed publications: 15138885, 26014431, 26865159
Fetal anomalies v0.3853 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Fetal anomalies v0.3853 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3853 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from Spastic paraplegia 45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165
Fetal anomalies v0.3852 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Fetal anomalies v0.3851 NT5C2 Zornitza Stark Classified gene: NT5C2 as Amber List (moderate evidence)
Fetal anomalies v0.3851 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3850 NT5C2 Zornitza Stark changed review comment from: ID and CC abnormalities are associated variable features. Nine unrelated families reported, ID reported in >3.; to: ID and CC abnormalities are associated variable features. Nine unrelated families reported.
Fetal anomalies v0.3850 NT5C2 Zornitza Stark edited their review of gene: NT5C2: Changed rating: AMBER
Fetal anomalies v0.3850 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Fetal anomalies v0.3850 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3850 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Fetal anomalies v0.3849 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Fetal anomalies v0.3848 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3847 NR2F1 Zornitza Stark changed review comment from: Recent review of 54 affected individuals with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS): 22 individuals with point mutations or in-frame deletions in the DNA-binding domain (DBD), and 32 individuals with other types of variants including whole-gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. A more severe phenotype appears to be associated with DBD variants.

Clinical characteristics include developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. Vision phenotype includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment; rarely, alacrima and latent nystagmus (fusional maldevelopment). The behavioural phenotypic spectrum includes a love of music, an unusually good long-term memory, sleep difficulties, a high pain tolerance, and touch sensitivity.; to: Recent review of 54 affected individuals with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS): 22 individuals with point mutations or in-frame deletions in the DNA-binding domain (DBD), and 32 individuals with other types of variants including whole-gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. A more severe phenotype appears to be associated with DBD variants.

Clinical characteristics include developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. Vision phenotype includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment; rarely, alacrima and latent nystagmus (fusional maldevelopment). The behavioural phenotypic spectrum includes a love of music, an unusually good long-term memory, sleep difficulties, a high pain tolerance, and touch sensitivity.

Clinical presentation is typically post-natal.
Fetal anomalies v0.3847 NR2F1 Zornitza Stark edited their review of gene: NR2F1: Changed rating: RED
Fetal anomalies v0.3847 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Fetal anomalies v0.3847 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3847 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from CONGENITAL DISORDER OF DEGLYCOSYLATION to Congenital disorder of deglycosylation, MIM# 615273
Fetal anomalies v0.3846 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Fetal anomalies v0.3845 NGLY1 Zornitza Stark changed review comment from: Over 20 affected individuals reported with bi-allelic variants in this gene. Rat model.; to: Over 20 affected individuals reported with bi-allelic variants in this gene. Rat model.

Clinical presentation is typically post-natal with predominantly neurological features.
Fetal anomalies v0.3845 NGLY1 Zornitza Stark edited their review of gene: NGLY1: Changed rating: RED
Fetal anomalies v0.3845 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Fetal anomalies v0.3845 NFU1 Zornitza Stark Gene: nfu1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3845 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Fetal anomalies v0.3844 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Fetal anomalies v0.3843 NFU1 Zornitza Stark changed review comment from: Bi-allelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death. Cavitating leukodystrophy and other white matter changes described in multiple affected individuals.; to: Bi-allelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death. Cavitating leukodystrophy and other white matter changes described in multiple affected individuals.

Clinical presentation is typically post-natal.
Fetal anomalies v0.3843 NFU1 Zornitza Stark edited their review of gene: NFU1: Changed rating: RED
Fetal anomalies v0.3843 SOX17 Daniel Flanagan reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: None; Publications: 29650961, 31406341; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3843 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Fetal anomalies v0.3843 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3843 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 3, MIM#618224
Fetal anomalies v0.3842 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Fetal anomalies v0.3841 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Fetal anomalies v0.3841 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3841 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME; LEIGH SYNDROME DUP to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010
Fetal anomalies v0.3840 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Fetal anomalies v0.3839 NDUFS4 Zornitza Stark changed review comment from: Well established gene-disease association. See PMID:27079373 for a literature review of 22 published cases.; to: Well established gene-disease association. See PMID:27079373 for a literature review of 22 published cases.

Typically presents post-natally.
Fetal anomalies v0.3839 NDUFS4 Zornitza Stark edited their review of gene: NDUFS4: Changed rating: RED
Fetal anomalies v0.3839 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Fetal anomalies v0.3839 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3839 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Fetal anomalies v0.3838 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Fetal anomalies v0.3837 NDUFS1 Zornitza Stark changed review comment from: Neurologic disability is a prominent feature.; to: Progressive disorder, typically presents post-natally.
Fetal anomalies v0.3837 NDUFS1 Zornitza Stark edited their review of gene: NDUFS1: Changed rating: RED
Fetal anomalies v0.3837 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Fetal anomalies v0.3837 MYT1L Zornitza Stark Gene: myt1l has been classified as Red List (Low Evidence).
Fetal anomalies v0.3837 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from MYT1L syndrome to Mental retardation, autosomal dominant 39, MIM# 616521
Fetal anomalies v0.3836 MYT1L Zornitza Stark Publications for gene: MYT1L were set to
Fetal anomalies v0.3835 MYT1L Zornitza Stark Mode of inheritance for gene: MYT1L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3834 MYT1L Zornitza Stark changed review comment from: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems.; to: Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems. Clinical presentation is typically post-natal.
Fetal anomalies v0.3834 MYT1L Zornitza Stark edited their review of gene: MYT1L: Changed rating: RED
Fetal anomalies v0.3834 MYBPC2 Zornitza Stark Marked gene: MYBPC2 as ready
Fetal anomalies v0.3834 MYBPC2 Zornitza Stark Gene: mybpc2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3834 MPZ Zornitza Stark Marked gene: MPZ as ready
Fetal anomalies v0.3834 MPZ Zornitza Stark Gene: mpz has been classified as Green List (High Evidence).
Fetal anomalies v0.3834 MPZ Zornitza Stark Phenotypes for gene: MPZ were changed from 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 to Hypomyelinating neuropathy, congenital, 2, MIM# 618184
Fetal anomalies v0.3833 MPZ Zornitza Stark Mode of inheritance for gene: MPZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3832 MPZ Zornitza Stark Classified gene: MPZ as Green List (high evidence)
Fetal anomalies v0.3832 MPZ Zornitza Stark Gene: mpz has been classified as Green List (High Evidence).
Fetal anomalies v0.3831 MPZ Zornitza Stark Deleted their comment
Fetal anomalies v0.3831 MPZ Zornitza Stark edited their review of gene: MPZ: Added comment: Variants in this gene are associated with various types of neuropathy, most with post-natal onset.

However, at the severe end of the spectrum can present antenatally with decreased fetal movements and arthrogryposis.; Changed rating: GREEN; Changed phenotypes: Hypomyelinating neuropathy, congenital, 2, MIM# 618184; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3831 MPZ Zornitza Stark reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.3831 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Fetal anomalies v0.3831 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Fetal anomalies v0.3831 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from 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 to PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Fetal anomalies v0.3830 SOX10 Zornitza Stark Mode of inheritance for gene: SOX10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3829 SOX10 Zornitza Stark reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3829 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Fetal anomalies v0.3829 SNX14 Zornitza Stark Gene: snx14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3829 SNX14 Zornitza Stark Phenotypes for gene: SNX14 were changed from ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
Fetal anomalies v0.3828 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Fetal anomalies v0.3827 SNX14 Zornitza Stark Classified gene: SNX14 as Amber List (moderate evidence)
Fetal anomalies v0.3827 SNX14 Zornitza Stark Gene: snx14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3826 TSHR Zornitza Stark Marked gene: TSHR as ready
Fetal anomalies v0.3826 TSHR Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
Fetal anomalies v0.3826 TSHR Zornitza Stark Classified gene: TSHR as Green List (high evidence)
Fetal anomalies v0.3826 TSHR Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
Fetal anomalies v0.3825 SOX10 Daniel Flanagan reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3825 SNX14 Daniel Flanagan reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25848753, 25439728; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3825 TSHR Krithika Murali changed review comment from: Heterozygous variants associated with hyperthyroidism. De novo GoF variants in particular associated with more severe, non-autoimmune congenital hyperthyroidism. Biallelic LoF variants associated with congenital hypothyroidism.

Premature delivery, IUGR and fetal tachycardia are reported antenatal phenotypes. Goitre also noted at birth in some cases. Craniosynostosis also a feature, but diagnosed postnatally in the context of rapidly advancing bone age.

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PMID: 9360555 Holzapfel 1997 - report IUGR and antenatal fetal tachycardia

PMID: 7800007 Kopp et al 1995 - proband born prematurely at 32 weeks gestation with BW of 1660g. Fetal tachycardia and diffuse goitre noted postnatally.

PMID: 18655531 Chester et al 2008 - proband born at 34 weeks. Antenatal ultrasound had shown thickened nuchal fold.

PMID: 15163335 Vaidya et al 2004 - report two siblings born premature with IUGR, heterozygous variant inherited from affected father.
Sources: Literature; to: Heterozygous variants associated with hyperthyroidism. De novo GoF variants in particular associated with more severe, non-autoimmune congenital hyperthyroidism. Biallelic LoF variants associated with congenital hypothyroidism.

Premature delivery, IUGR and fetal tachycardia are reported antenatal phenotypes. Goitre also noted at birth in some cases. Craniosynostosis also a feature, but diagnosed postnatally in the context of rapidly advancing bone age.

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PMID: 9360555 Holzapfel 1997 - report IUGR and antenatal fetal tachycardia

PMID: 7800007 Kopp et al 1995 - proband born prematurely at 32 weeks gestation with BW of 1660g. Fetal tachycardia and diffuse goitre noted postnatally.

PMID: 18655531 Chester et al 2008 - proband born at 34 weeks. Antenatal ultrasound had shown thickened nuchal fold.

PMID: 15163335 Vaidya et al 2004 - report two siblings born premature with IUGR, heterozygous variant inherited from affected father.

PMID: 11081252 M Tonacchera et al 2000 - report SGA

PMID: 16960398 Nishihara et al 2006 - proband born 32 weeks with 1860g birthweight, postnatal goitre and craniosynostosis





Sources: Literature
Fetal anomalies v0.3825 TSHR Krithika Murali gene: TSHR was added
gene: TSHR was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TSHR were set to 23295291; 9360555; 7800007; 18655531; 15163335
Phenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune - MIM#609152; Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Review for gene: TSHR was set to GREEN
Added comment: Heterozygous variants associated with hyperthyroidism. De novo GoF variants in particular associated with more severe, non-autoimmune congenital hyperthyroidism. Biallelic LoF variants associated with congenital hypothyroidism.

Premature delivery, IUGR and fetal tachycardia are reported antenatal phenotypes. Goitre also noted at birth in some cases. Craniosynostosis also a feature, but diagnosed postnatally in the context of rapidly advancing bone age.

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PMID: 9360555 Holzapfel 1997 - report IUGR and antenatal fetal tachycardia

PMID: 7800007 Kopp et al 1995 - proband born prematurely at 32 weeks gestation with BW of 1660g. Fetal tachycardia and diffuse goitre noted postnatally.

PMID: 18655531 Chester et al 2008 - proband born at 34 weeks. Antenatal ultrasound had shown thickened nuchal fold.

PMID: 15163335 Vaidya et al 2004 - report two siblings born premature with IUGR, heterozygous variant inherited from affected father.
Sources: Literature
Fetal anomalies v0.3825 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Fetal anomalies v0.3825 MPV17 Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3825 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 6 to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810
Fetal anomalies v0.3824 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Fetal anomalies v0.3823 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3823 MPI Zornitza Stark Marked gene: MPI as ready
Fetal anomalies v0.3823 MPI Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence).
Fetal anomalies v0.3823 MPI Zornitza Stark Publications for gene: MPI were set to
Fetal anomalies v0.3822 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Fetal anomalies v0.3822 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3822 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908
Fetal anomalies v0.3821 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Fetal anomalies v0.3820 MGAT2 Zornitza Stark Classified gene: MGAT2 as Amber List (moderate evidence)
Fetal anomalies v0.3820 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3819 MGAT2 Zornitza Stark edited their review of gene: MGAT2: Changed rating: AMBER
Fetal anomalies v0.3819 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Fetal anomalies v0.3819 MECP2 Zornitza Stark Gene: mecp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3819 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from 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)[ to Rett syndrome, MIM# 312750; Encephalopathy, neonatal severe 300673
Fetal anomalies v0.3818 MECP2 Zornitza Stark changed review comment from: Well established gene-disease association, microcephaly is a key phenotypic feature both in Rett syndrome and in males affected by severe neonatal encephalopathy.; to: Well established gene-disease association, typically presents post-natally.
Fetal anomalies v0.3818 MECP2 Zornitza Stark edited their review of gene: MECP2: Changed rating: RED
Fetal anomalies v0.3818 MAOA Zornitza Stark Marked gene: MAOA as ready
Fetal anomalies v0.3818 MAOA Zornitza Stark Gene: maoa has been classified as Red List (Low Evidence).
Fetal anomalies v0.3818 MAOA Zornitza Stark Phenotypes for gene: MAOA were changed from BRUNNER SYNDROME to Brunner syndrome, MIM# 300615
Fetal anomalies v0.3817 MAOA Zornitza Stark Publications for gene: MAOA were set to
Fetal anomalies v0.3816 MAOA Zornitza Stark changed review comment from: Increased serotonin. ID, autonomic dysfunction, essential tremor, behavioural abnormalities.; to: Increased serotonin. ID, autonomic dysfunction, essential tremor, behavioural abnormalities. Typically presents post-natally.
Fetal anomalies v0.3816 MAOA Zornitza Stark edited their review of gene: MAOA: Changed rating: RED
Fetal anomalies v0.3816 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Fetal anomalies v0.3816 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3816 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from LYSOSOMAL ALPHA-MANNOSIDOSIS to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Fetal anomalies v0.3815 MAN2B1 Zornitza Stark edited their review of gene: MAN2B1: Changed rating: RED
Fetal anomalies v0.3815 TPO Zornitza Stark Marked gene: TPO as ready
Fetal anomalies v0.3815 TPO Zornitza Stark Gene: tpo has been classified as Green List (High Evidence).
Fetal anomalies v0.3815 TPO Zornitza Stark Classified gene: TPO as Green List (high evidence)
Fetal anomalies v0.3815 TPO Zornitza Stark Gene: tpo has been classified as Green List (High Evidence).
Fetal anomalies v0.3814 PRMT7 Zornitza Stark Marked gene: PRMT7 as ready
Fetal anomalies v0.3814 PRMT7 Zornitza Stark Gene: prmt7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3814 PRMT7 Zornitza Stark Phenotypes for gene: PRMT7 were changed from Pseudohypoparathyroidism-like disorder to Short stature, brachydactyly, intellectual developmental disability, and seizures, OMIM #617157
Fetal anomalies v0.3813 PRMT7 Zornitza Stark Publications for gene: PRMT7 were set to
Fetal anomalies v0.3812 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Fetal anomalies v0.3812 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Fetal anomalies v0.3812 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from NON SYNDROMAL HEARING LOSS; DOORS SYNDROME; MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL to DOORS syndrome MIM#220500
Fetal anomalies v0.3811 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Fetal anomalies v0.3810 PHOX2B Zornitza Stark Marked gene: PHOX2B as ready
Fetal anomalies v0.3810 PHOX2B Zornitza Stark Gene: phox2b has been classified as Green List (High Evidence).
Fetal anomalies v0.3810 PHOX2B Zornitza Stark Phenotypes for gene: PHOX2B were changed from CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE; NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880
Fetal anomalies v0.3809 PHOX2B Zornitza Stark Publications for gene: PHOX2B were set to
Fetal anomalies v0.3808 PHOX2B Zornitza Stark Mode of inheritance for gene: PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3807 PRG4 Zornitza Stark Marked gene: PRG4 as ready
Fetal anomalies v0.3807 PRG4 Zornitza Stark Gene: prg4 has been classified as Green List (High Evidence).
Fetal anomalies v0.3807 PRG4 Zornitza Stark Publications for gene: PRG4 were set to
Fetal anomalies v0.3806 PIEZO1 Zornitza Stark Marked gene: PIEZO1 as ready
Fetal anomalies v0.3806 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3806 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from Congenital lymphatic dysplasia with hydrops and/or lymphoedema; hydrops fetalis gene 616843 to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380; Lymphatic malformation 6, OMIM #616843
Fetal anomalies v0.3805 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to 23695678; 30712880; 26333996; 28425981
Fetal anomalies v0.3804 PLOD2 Zornitza Stark Marked gene: PLOD2 as ready
Fetal anomalies v0.3804 PLOD2 Zornitza Stark Gene: plod2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3804 PLOD2 Zornitza Stark Phenotypes for gene: PLOD2 were changed from BRUCK SYNDROME TYPE 2 to Bruck syndrome 2 , OMIM #609220
Fetal anomalies v0.3803 PLOD2 Zornitza Stark Publications for gene: PLOD2 were set to
Fetal anomalies v0.3802 PLOD1 Zornitza Stark Marked gene: PLOD1 as ready
Fetal anomalies v0.3802 PLOD1 Zornitza Stark Gene: plod1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3802 PLOD1 Zornitza Stark Phenotypes for gene: PLOD1 were changed from EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM #225400
Fetal anomalies v0.3801 PLOD1 Zornitza Stark Publications for gene: PLOD1 were set to
Fetal anomalies v0.3800 THRB Zornitza Stark Marked gene: THRB as ready
Fetal anomalies v0.3800 THRB Zornitza Stark Gene: thrb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3800 THRB Zornitza Stark Classified gene: THRB as Amber List (moderate evidence)
Fetal anomalies v0.3800 THRB Zornitza Stark Gene: thrb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3799 THRB Zornitza Stark reviewed gene: THRB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3799 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Fetal anomalies v0.3799 PHF6 Zornitza Stark Gene: phf6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3799 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from BOERJESON-FORSSMAN-LEHMANN SYNDROME to Borjeson-Forssman-Lehmann syndrome, OMIM # 301900
Fetal anomalies v0.3798 PEPD Zornitza Stark Marked gene: PEPD as ready
Fetal anomalies v0.3798 PEPD Zornitza Stark Gene: pepd has been classified as Red List (Low Evidence).
Fetal anomalies v0.3798 PEPD Zornitza Stark Phenotypes for gene: PEPD were changed from PROLIDASE DEFICIENCY to Prolidase deficiency, OMIM #170100
Fetal anomalies v0.3797 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Fetal anomalies v0.3797 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3797 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from Non-degenerative Pontocerebellar Hypoplasia to Pontocerebellar hypoplasia, type 11, MIM# 617695
Fetal anomalies v0.3796 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Fetal anomalies v0.3795 TBC1D23 Zornitza Stark Classified gene: TBC1D23 as Amber List (moderate evidence)
Fetal anomalies v0.3795 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3794 PITX2 Zornitza Stark Marked gene: PITX2 as ready
Fetal anomalies v0.3794 PITX2 Zornitza Stark Gene: pitx2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3794 PITX2 Zornitza Stark Phenotypes for gene: PITX2 were changed from AXENFELD-RIEGER SYNDROME TYPE 1; PETERS ANOMALY; RING DERMOID OF CORNEA; IRIDOGONIODYSGENESIS TYPE 2 to Anterior segment dysgenesis 4, OMIM #137600; Axenfeld-Rieger syndrome, type 1, OMIM #180500
Fetal anomalies v0.3793 PITX2 Zornitza Stark Publications for gene: PITX2 were set to
Fetal anomalies v0.3792 PITX2 Zornitza Stark Mode of inheritance for gene: PITX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3791 TAPT1 Zornitza Stark Marked gene: TAPT1 as ready
Fetal anomalies v0.3791 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3791 TAPT1 Zornitza Stark Phenotypes for gene: TAPT1 were changed from COMPLEX LETHAL OSTEOCHONDRODYSPLASIA to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Fetal anomalies v0.3790 TAPT1 Zornitza Stark Classified gene: TAPT1 as Amber List (moderate evidence)
Fetal anomalies v0.3790 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3789 TAPT1 Zornitza Stark reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3789 PKD2 Zornitza Stark Marked gene: PKD2 as ready
Fetal anomalies v0.3789 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3789 PKD2 Zornitza Stark Phenotypes for gene: PKD2 were changed from Polycystic kidney disease 613095 to Polycystic kidney disease 2, OMIM #613095
Fetal anomalies v0.3788 PKD2 Zornitza Stark Publications for gene: PKD2 were set to
Fetal anomalies v0.3787 PKD2 Zornitza Stark Mode of inheritance for gene: PKD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.3786 PKD1 Zornitza Stark Marked gene: PKD1 as ready
Fetal anomalies v0.3786 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3786 PKD1 Zornitza Stark Phenotypes for gene: PKD1 were changed from Autosomal dominant polycystic kidney disease (ADPKD); Polycystic kidney disease, 173900 to Polycystic kidney disease 1, OMIM #173900
Fetal anomalies v0.3785 PKD1 Zornitza Stark Publications for gene: PKD1 were set to 23624871; 20558538
Fetal anomalies v0.3784 TBL1X Zornitza Stark Marked gene: TBL1X as ready
Fetal anomalies v0.3784 TBL1X Zornitza Stark Gene: tbl1x has been classified as Red List (Low Evidence).
Fetal anomalies v0.3784 TBL1X Zornitza Stark Classified gene: TBL1X as Red List (low evidence)
Fetal anomalies v0.3784 TBL1X Zornitza Stark Gene: tbl1x has been classified as Red List (Low Evidence).
Fetal anomalies v0.3783 TBL1X Zornitza Stark reviewed gene: TBL1X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3783 SMARCB1 Zornitza Stark Marked gene: SMARCB1 as ready
Fetal anomalies v0.3783 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3783 SMARCB1 Zornitza Stark Phenotypes for gene: SMARCB1 were changed from RHABDOID PREDISPOSITION SYNDROME 1; ?COFFIN-SIRIS SYNDROME to Coffin-Siris syndrome 3, OMIM #614608
Fetal anomalies v0.3782 SMARCB1 Zornitza Stark Publications for gene: SMARCB1 were set to
Fetal anomalies v0.3781 SMARCB1 Zornitza Stark Mode of inheritance for gene: SMARCB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3780 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Fetal anomalies v0.3780 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3780 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
Fetal anomalies v0.3779 PLK4 Zornitza Stark Marked gene: PLK4 as ready
Fetal anomalies v0.3779 PLK4 Zornitza Stark Gene: plk4 has been classified as Green List (High Evidence).
Fetal anomalies v0.3779 PLK4 Zornitza Stark Phenotypes for gene: PLK4 were changed from MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171
Fetal anomalies v0.3778 PLK4 Zornitza Stark Publications for gene: PLK4 were set to
Fetal anomalies v0.3777 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Fetal anomalies v0.3777 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3777 SUCLG1 Zornitza Stark Phenotypes for gene: SUCLG1 were changed from FATAL INFANTILE LACTIC ACIDOSIS to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400
Fetal anomalies v0.3776 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to 21093335
Fetal anomalies v0.3775 SRY Zornitza Stark Marked gene: SRY as ready
Fetal anomalies v0.3775 SRY Zornitza Stark Gene: sry has been classified as Green List (High Evidence).
Fetal anomalies v0.3775 SRY Zornitza Stark Phenotypes for gene: SRY were changed from 46XY SEX REVERSAL 1 to 46XY sex reversal 1, OMIM #400044; 46XX sex reversal 1, OMIM #400045
Fetal anomalies v0.3774 SRY Zornitza Stark Publications for gene: SRY were set to
Fetal anomalies v0.3773 TG Zornitza Stark Marked gene: TG as ready
Fetal anomalies v0.3773 TG Zornitza Stark Gene: tg has been classified as Green List (High Evidence).
Fetal anomalies v0.3773 TG Zornitza Stark Classified gene: TG as Green List (high evidence)
Fetal anomalies v0.3773 TG Zornitza Stark Gene: tg has been classified as Green List (High Evidence).
Fetal anomalies v0.3772 SLC5A5 Zornitza Stark Marked gene: SLC5A5 as ready
Fetal anomalies v0.3772 SLC5A5 Zornitza Stark Gene: slc5a5 has been classified as Green List (High Evidence).
Fetal anomalies v0.3772 SLC5A5 Zornitza Stark Classified gene: SLC5A5 as Green List (high evidence)
Fetal anomalies v0.3772 SLC5A5 Zornitza Stark Gene: slc5a5 has been classified as Green List (High Evidence).
Fetal anomalies v0.3771 TRPS1 Zornitza Stark Marked gene: TRPS1 as ready
Fetal anomalies v0.3771 TRPS1 Zornitza Stark Gene: trps1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3771 TRPS1 Zornitza Stark Phenotypes for gene: TRPS1 were changed from TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 to Trichorhinophalangeal syndrome, type I, OMIM #190350; Trichorhinophalangeal syndrome, type III, OMIM #190351
Fetal anomalies v0.3770 TRPS1 Zornitza Stark Publications for gene: TRPS1 were set to
Fetal anomalies v0.3769 TRPS1 Zornitza Stark Mode of inheritance for gene: TRPS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3768 TBCE Zornitza Stark Marked gene: TBCE as ready
Fetal anomalies v0.3768 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Fetal anomalies v0.3768 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; KENNY-CAFFEY SYNDROME TYPE 1 to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410; Kenny-Caffey syndrome, type 1, OMIM #244460; Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207
Fetal anomalies v0.3767 TBCE Zornitza Stark Publications for gene: TBCE were set to
Fetal anomalies v0.3766 SLC26A7 Zornitza Stark Marked gene: SLC26A7 as ready
Fetal anomalies v0.3766 SLC26A7 Zornitza Stark Gene: slc26a7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3766 SLC26A7 Zornitza Stark Classified gene: SLC26A7 as Red List (low evidence)
Fetal anomalies v0.3766 SLC26A7 Zornitza Stark Gene: slc26a7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3765 SLC26A7 Zornitza Stark reviewed gene: SLC26A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3765 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Fetal anomalies v0.3765 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3765 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1; REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 to Peroxisome biogenesis disorder 9B, OMIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100
Fetal anomalies v0.3764 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Fetal anomalies v0.3763 RUNX2 Zornitza Stark Marked gene: RUNX2 as ready
Fetal anomalies v0.3763 RUNX2 Zornitza Stark Gene: runx2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3763 RUNX2 Zornitza Stark Phenotypes for gene: RUNX2 were changed from CLEIDOCRANIAL DYSPLASIA to Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600
Fetal anomalies v0.3762 RUNX2 Zornitza Stark Publications for gene: RUNX2 were set to
Fetal anomalies v0.3761 RUNX2 Zornitza Stark Mode of inheritance for gene: RUNX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3760 SLC26A4 Zornitza Stark Marked gene: SLC26A4 as ready
Fetal anomalies v0.3760 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3760 SLC26A4 Zornitza Stark Classified gene: SLC26A4 as Red List (low evidence)
Fetal anomalies v0.3760 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3759 SLC26A4 Zornitza Stark reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3759 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Fetal anomalies v0.3759 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3759 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 to Dyskeratosis congenita, autosomal recessive 5 MIM#615190; Hoyeraal-Hreidarsson syndrome
Fetal anomalies v0.3758 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Fetal anomalies v0.3757 PROP1 Zornitza Stark Marked gene: PROP1 as ready
Fetal anomalies v0.3757 PROP1 Zornitza Stark Gene: prop1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3757 PROP1 Zornitza Stark Classified gene: PROP1 as Amber List (moderate evidence)
Fetal anomalies v0.3757 PROP1 Zornitza Stark Gene: prop1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3756 TPO Krithika Murali gene: TPO was added
gene: TPO was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPO were set to 34220711; 30662777
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A - MIM#274500
Review for gene: TPO was set to GREEN
Added comment: Well-established association with thyroid dyshormonogenesis. 3 affected individuals from 2 unrelated families reported with fetal goitre.

34220711 Rodrigues et al 2021 - report 2 siblings who were diagnosed with fetal goitre on antenatal ultrasound at 26 and 32 weeks gestation. Pathogenic compound het TPO variants identified inherited from unaffected carrier parents.

30662777 - report a proband diagnosed with fetal goitre at 29 weeks gestation. Compound heterozygous TPO variants identified.
Sources: Literature
Fetal anomalies v0.3756 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Fetal anomalies v0.3756 RRM2B Zornitza Stark Gene: rrm2b has been classified as Red List (Low Evidence).
Fetal anomalies v0.3756 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from Mitochondrial depletion syndrome to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Fetal anomalies v0.3755 RRM2B Zornitza Stark Publications for gene: RRM2B were set to
Fetal anomalies v0.3754 RRM2B Zornitza Stark Classified gene: RRM2B as Red List (low evidence)
Fetal anomalies v0.3754 RRM2B Zornitza Stark Gene: rrm2b has been classified as Red List (Low Evidence).
Fetal anomalies v0.3753 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Fetal anomalies v0.3753 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3753 RPS6KA3 Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME to Coffin-Lowry syndrome MIM#303600; Intellectual developmental disorder, X-linked 19 MIM#300844
Fetal anomalies v0.3752 RPS6KA3 Zornitza Stark Publications for gene: RPS6KA3 were set to
Fetal anomalies v0.3751 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Fetal anomalies v0.3751 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3751 ROR2 Zornitza Stark Phenotypes for gene: ROR2 were changed from BRACHYDACTYLY, TYPE B1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT; ROR2-RELATED DISORDERS AR to Brachydactyly, type B1 MIM#113000; Robinow syndrome, autosomal recessive MIM#268310
Fetal anomalies v0.3750 ROR2 Zornitza Stark Publications for gene: ROR2 were set to
Fetal anomalies v0.3749 ROR2 Zornitza Stark Mode of inheritance for gene: ROR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.3748 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Fetal anomalies v0.3748 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3748 RNASET2 Zornitza Stark Phenotypes for gene: RNASET2 were changed from LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY to Leukoencephalopathy, cystic, without megalencephaly MIM#612951
Fetal anomalies v0.3747 RNASET2 Zornitza Stark Publications for gene: RNASET2 were set to
Fetal anomalies v0.3746 RNASET2 Zornitza Stark Classified gene: RNASET2 as Amber List (moderate evidence)
Fetal anomalies v0.3746 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3745 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Fetal anomalies v0.3745 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Fetal anomalies v0.3745 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from AICARDI-GOUTIERES SYNDROME 3 to Aicardi-Goutieres syndrome 3 (MIM# 610329), AR
Fetal anomalies v0.3744 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Fetal anomalies v0.3743 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Fetal anomalies v0.3743 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3743 NKX2-1 Zornitza Stark Classified gene: NKX2-1 as Amber List (moderate evidence)
Fetal anomalies v0.3743 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3742 NKX2-1 Zornitza Stark edited their review of gene: NKX2-1: Changed rating: AMBER
Fetal anomalies v0.3742 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3742 IYD Zornitza Stark Marked gene: IYD as ready
Fetal anomalies v0.3742 IYD Zornitza Stark Gene: iyd has been classified as Red List (Low Evidence).
Fetal anomalies v0.3742 IYD Zornitza Stark Classified gene: IYD as Red List (low evidence)
Fetal anomalies v0.3742 IYD Zornitza Stark Gene: iyd has been classified as Red List (Low Evidence).
Fetal anomalies v0.3741 IYD Zornitza Stark reviewed gene: IYD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3741 IRS4 Zornitza Stark Marked gene: IRS4 as ready
Fetal anomalies v0.3741 IRS4 Zornitza Stark Gene: irs4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3741 IRS4 Zornitza Stark Classified gene: IRS4 as Red List (low evidence)
Fetal anomalies v0.3741 IRS4 Zornitza Stark Gene: irs4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3740 IRS4 Zornitza Stark edited their review of gene: IRS4: Changed rating: RED
Fetal anomalies v0.3740 IRS4 Zornitza Stark reviewed gene: IRS4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3740 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Fetal anomalies v0.3740 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3740 DUOXA2 Zornitza Stark Classified gene: DUOXA2 as Red List (low evidence)
Fetal anomalies v0.3740 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3739 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3739 DUOXA1 Zornitza Stark Marked gene: DUOXA1 as ready
Fetal anomalies v0.3739 DUOXA1 Zornitza Stark Gene: duoxa1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3739 DUOXA1 Zornitza Stark Classified gene: DUOXA1 as Red List (low evidence)
Fetal anomalies v0.3739 DUOXA1 Zornitza Stark Gene: duoxa1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3738 DUOXA1 Zornitza Stark reviewed gene: DUOXA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3738 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Fetal anomalies v0.3738 DUOX2 Zornitza Stark Gene: duox2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3738 DUOX2 Zornitza Stark Classified gene: DUOX2 as Red List (low evidence)
Fetal anomalies v0.3738 DUOX2 Zornitza Stark Gene: duox2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3737 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3737 DUOX1 Zornitza Stark Marked gene: DUOX1 as ready
Fetal anomalies v0.3737 DUOX1 Zornitza Stark Gene: duox1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3737 DUOX1 Zornitza Stark Classified gene: DUOX1 as Red List (low evidence)
Fetal anomalies v0.3737 DUOX1 Zornitza Stark Gene: duox1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3736 DUOX1 Zornitza Stark reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3736 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Fetal anomalies v0.3736 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Fetal anomalies v0.3736 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from AICARDI-GOUTIERES SYNDROME 2 to Aicardi-Goutieres syndrome 2, MIM# 610181
Fetal anomalies v0.3735 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Fetal anomalies v0.3734 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Fetal anomalies v0.3734 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Fetal anomalies v0.3734 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from AICARDI-GOUTIERES SYNDROME 4 to Aicardi-Goutieres syndrome 4 MIM#610333
Fetal anomalies v0.3733 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Fetal anomalies v0.3732 CDCA8 Zornitza Stark Marked gene: CDCA8 as ready
Fetal anomalies v0.3732 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3732 CDCA8 Zornitza Stark Classified gene: CDCA8 as Red List (low evidence)
Fetal anomalies v0.3732 CDCA8 Zornitza Stark Gene: cdca8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3731 CDCA8 Zornitza Stark reviewed gene: CDCA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital hypothyroidism, thyroid dysgenesis, no OMIM #; Mode of inheritance: None
Fetal anomalies v0.3731 NPRL3 Zornitza Stark Marked gene: NPRL3 as ready
Fetal anomalies v0.3731 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3731 NPRL3 Zornitza Stark Classified gene: NPRL3 as Green List (high evidence)
Fetal anomalies v0.3731 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3730 NPRL2 Zornitza Stark Marked gene: NPRL2 as ready
Fetal anomalies v0.3730 NPRL2 Zornitza Stark Gene: nprl2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3730 NPRL2 Zornitza Stark Classified gene: NPRL2 as Green List (high evidence)
Fetal anomalies v0.3730 NPRL2 Zornitza Stark Gene: nprl2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3729 PRMT7 Chirag Patel reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26437029, 27718516, 30513135; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures, OMIM #617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3729 TBC1D24 Ain Roesley edited their review of gene: TBC1D24: Changed publications: 25719194
Fetal anomalies v0.3729 TBC1D24 Ain Roesley edited their review of gene: TBC1D24: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3729 TBC1D24 Ain Roesley reviewed gene: TBC1D24: Rating: ; Mode of pathogenicity: None; Publications: Polyhydramnios is often noted when a fetus has DOORS syndrome [James et al 2007]. A subsequent affected pregnancy in one family with DOORS syndrome was terminated due to an elevated nuchal translucency of 5.1 mm at 12 weeks' estimated gestational age; Phenotypes: Developmental and epileptic encephalopathy 16 MIM#615338, DOORS syndrome MIM#220500, Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105, Myoclonic epilepsy, infantile, familial MIM#605021; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.3729 PKD2 Chirag Patel Classified gene: PKD2 as Green List (high evidence)
Fetal anomalies v0.3729 PKD2 Chirag Patel Gene: pkd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3728 PKD2 Chirag Patel reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26139440; Phenotypes: Polycystic kidney disease 2, OMIM #613095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3728 PKD2 Chirag Patel Deleted their review
Fetal anomalies v0.3728 PKD1 Chirag Patel changed review comment from: Rare cases of ADPKD diagnosed antenatally, usually with biallelic variants. Suitable for fetal anomalies panel.; to: Rare cases of ADPKD diagnosed antenatally, usually with biallelic variants. Suitable for fetal anomalies panel.
Fetal anomalies v0.3728 PKD1 Chirag Patel Deleted their comment
Fetal anomalies v0.3728 PKD1 Chirag Patel edited their review of gene: PKD1: Added comment: Rare cases of ADPKD diagnosed antenatally, usually with biallelic variants. Suitable for fetal anomalies panel.; Changed rating: GREEN; Changed publications: PMID: 30631912, 26139440; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3728 PKD1 Chirag Patel Classified gene: PKD1 as Green List (high evidence)
Fetal anomalies v0.3728 PKD1 Chirag Patel Gene: pkd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3727 PKD1 Chirag Patel Phenotypes for gene: PKD1 were changed from Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD); Polycystic kidney disease, 173900 to Autosomal dominant polycystic kidney disease (ADPKD); Polycystic kidney disease, 173900
Fetal anomalies v0.3726 PHOX2B Chirag Patel reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 14608649, 15657873, 15121777, 26063465; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3726 PRG4 Chirag Patel reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 10545950, 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, OMIM #208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3726 PIEZO1 Chirag Patel reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26333996, 23479567, 23695678; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380, Lymphatic malformation 6, OMIM #616843; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3726 PLOD2 Chirag Patel reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2 , OMIM #609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3726 PLOD1 Chirag Patel reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15666309, 20301635, 28757364; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM #225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3726 THRB Krithika Murali gene: THRB was added
gene: THRB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: THRB were set to 35130567; 30430796; 30074255; 28938413; 4163616
Phenotypes for gene: THRB were set to Thyroid hormone resistance, autosomal recessive - MIM#274300; Thyroid hormone resistance - MIM#188570; Thyroid hormone resistance, selective pituitary - MIM#145650
Review for gene: THRB was set to GREEN
Added comment: Biallelic variants associated with thyroid hormone resistance. PMID 4163616 first reported this condition in a consanguineous Mexican family with congenital deafness, goitre and stippled epiphyses. Diagnosis was made incidentally at a later age but possibility of goitre being detected antenatally. SGA also reported but this is generally in the context of having a mother also affected by thyroid hormone resistance secondary to biallelic or monoallelic variants.
Sources: Literature
Fetal anomalies v0.3726 PHF6 Chirag Patel Classified gene: PHF6 as Red List (low evidence)
Fetal anomalies v0.3726 PHF6 Chirag Patel Gene: phf6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3725 PHF6 Chirag Patel reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, OMIM # 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.3725 PEPD Chirag Patel Classified gene: PEPD as Red List (low evidence)
Fetal anomalies v0.3725 PEPD Chirag Patel Gene: pepd has been classified as Red List (Low Evidence).
Fetal anomalies v0.3725 PEPD Chirag Patel Classified gene: PEPD as Red List (low evidence)
Fetal anomalies v0.3725 PEPD Chirag Patel Gene: pepd has been classified as Red List (Low Evidence).
Fetal anomalies v0.3724 PEPD Chirag Patel reviewed gene: PEPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Prolidase deficiency, OMIM #170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3724 TBC1D23 Ain Roesley reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3724 PITX2 Chirag Patel reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: [PubMed: 12015277; Phenotypes: Anterior segment dysgenesis 4, OMIM #137600, Axenfeld-Rieger syndrome, type 1, OMIM #180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3724 TAPT1 Ain Roesley reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3724 PKD2 Chirag Patel Classified gene: PKD2 as Red List (low evidence)
Fetal anomalies v0.3724 PKD2 Chirag Patel Gene: pkd2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3723 PKD2 Chirag Patel reviewed gene: PKD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 2, OMIM #613095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3723 PKD1 Chirag Patel Classified gene: PKD1 as Red List (low evidence)
Fetal anomalies v0.3723 PKD1 Chirag Patel Gene: pkd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3722 PKD1 Chirag Patel reviewed gene: PKD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, OMIM #173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3722 TBL1X Krithika Murali gene: TBL1X was added
gene: TBL1X was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBL1X were set to 30591955; 27603907
Phenotypes for gene: TBL1X were set to Hypothyroidism, congenital, nongoitrous, 8 - MIM#301033
Review for gene: TBL1X was set to AMBER
Added comment: Associated with central congenital hypothyroidism. Antenatal phenotype not reported. Thyroid hypoplasia has been noted in affected individuals. Generally diagnosed after newborn screening or later in childhood.
Sources: Literature
Fetal anomalies v0.3722 SMARCB1 Chirag Patel reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 22426308, 22726846, 23929686; Phenotypes: Coffin-Siris syndrome 3, OMIM #614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3722 SUCLG1 Ain Roesley reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33230783, 28358460; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3722 TALDO1 Chirag Patel reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25388407, 23315216, 29923087, 26238251, 11283793; Phenotypes: Transaldolase deficiency, OMIM #606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3722 PLK4 Chirag Patel reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25344692, 25320347, 33756487, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3722 SUCLG1 Chirag Patel reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 17668387, 19526370, 20693550, 30470562; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) , OMIM #245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3722 SRY Chirag Patel reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 1570829, 1734522, 9143916, 12764225; Phenotypes: 46XY sex reversal 1, OMIM #400044, 46XX sex reversal 1, OMIM #400045; Mode of inheritance: Other
Fetal anomalies v0.3722 TG Krithika Murali gene: TG was added
gene: TG was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TG were set to 33832185; 19169491; 28620499; 18631008; 12915634
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3 - MIM#274700
Review for gene: TG was set to GREEN
Added comment: Well-established gene-disease association with congenital hypothyroidism and fetal goitre.
Sources: Literature
Fetal anomalies v0.3722 SLC5A5 Krithika Murali gene: SLC5A5 was added
gene: SLC5A5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A5 were set to 34806438; 34726525; 33815280; 32805706; 31115276
Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1 - MIM#274400
Review for gene: SLC5A5 was set to GREEN
Added comment: Biallelic variants associated with congenital hypothyroidism. PMID 32805706 Stoupa et al 2020 report an affected male with antenatal goitre diagnosed at 25 weeks gestation and treated with intraamniotic levothyroxine injections.
Sources: Literature
Fetal anomalies v0.3722 TRPS1 Chirag Patel Classified gene: TRPS1 as Red List (low evidence)
Fetal anomalies v0.3722 TRPS1 Chirag Patel Gene: trps1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3721 TRPS1 Chirag Patel reviewed gene: TRPS1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 10615131, 11950061, 11112658; Phenotypes: Trichorhinophalangeal syndrome, type I, OMIM #190350, Trichorhinophalangeal syndrome, type III, OMIM #190351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3721 TBCE Chirag Patel reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12389028, 27666369; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410, Kenny-Caffey syndrome, type 1, OMIM #244460, Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3721 SLC26A7 Krithika Murali gene: SLC26A7 was added
gene: SLC26A7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321; 29546359
Phenotypes for gene: SLC26A7 were set to Thyroid dyshormogenesis - no OMIM gene disease association
Review for gene: SLC26A7 was set to GREEN
Added comment: Biallelic variants associated with congenital hypothyroidism secondary to thyroid dyshormogenesis. PMID 32486989 report an affected female diagnosed with goitre D4 of life.
Sources: Literature
Fetal anomalies v0.3721 PEX7 Chirag Patel reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11781871, 12325024,,; Phenotypes: Peroxisome biogenesis disorder 9B, OMIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3721 RUNX2 Ain Roesley reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301686; Phenotypes: Cleidocranial dysplasia MIM#119600, Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3721 SLC26A4 Krithika Murali gene: SLC26A4 was added
gene: SLC26A4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A4 were set to Pendred syndrome - MIM#274600
Review for gene: SLC26A4 was set to AMBER
Added comment: Known association with congenital hypothyroidism and bilateral sensorineural hearing loss. If goitre present, manifests later in childhood. No antenatal phenotype reported.
Sources: Literature
Fetal anomalies v0.3721 RTEL1 Ain Roesley reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23329068, 20301779, 29296694; Phenotypes: Dyskeratosis congenita, autosomal recessive 5 MIM#615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3721 PROP1 Krithika Murali gene: PROP1 was added
gene: PROP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROP1 were set to 15941866; 11549703; 20301521; 32415500
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2- #262600
Review for gene: PROP1 was set to AMBER
Added comment: Biallelic variants associated with panhypopituitarism. Features include central congenital hypothyroidism and hypogonadotrophic hypogonadism including micropenis. Diagnosed postnatally in infancy or early childhood due to growth failure and failure to thrive. Antenatal diagnosis not reported, although severe micropenis due to other disorders has been detected antenatally.
Sources: Literature
Fetal anomalies v0.3721 RRM2B Ain Roesley reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: 24741716; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3721 RPS6KA3 Ain Roesley reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301520; Phenotypes: Coffin-Lowry syndrome MIM#303600, Intellectual developmental disorder, X-linked 19 MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.3721 ROR2 Ain Roesley reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932186, 10932187, 10986040, 19461659, 20301418; Phenotypes: Brachydactyly, type B1 MIM#113000, Robinow syndrome, autosomal recessive MIM#268310; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3721 RNASET2 Ain Roesley reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3721 RNASEH2C Ain Roesley reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 24183309, 23322642; Phenotypes: Aicardi-Goutieres syndrome 3 (MIM# 610329), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3721 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Fetal anomalies v0.3721 KMT2E Zornitza Stark Gene: kmt2e has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3721 KMT2E Zornitza Stark Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512 to O'Donnell-Luria-Rodan syndrome MIM#618512
Fetal anomalies v0.3720 KMT2E Zornitza Stark Publications for gene: KMT2E were set to
Fetal anomalies v0.3719 KMT2E Zornitza Stark Classified gene: KMT2E as Amber List (moderate evidence)
Fetal anomalies v0.3719 KMT2E Zornitza Stark Gene: kmt2e has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3718 KMT2E Zornitza Stark changed review comment from: 38 individuals from 36 families reported. Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. Additional common features include autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.; to: Micro/macrocephaly reported, see below, age of onset uncertain. Non-specific brain abnormalities also.

38 individuals from 36 families reported. Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. Additional common features include autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.
Fetal anomalies v0.3718 KMT2E Zornitza Stark edited their review of gene: KMT2E: Changed rating: AMBER
Fetal anomalies v0.3718 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Fetal anomalies v0.3718 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3718 KCNQ3 Zornitza Stark Phenotypes for gene: KCNQ3 were changed from KCNQ3 syndrome to Seizures, benign neonatal, 2, MIM# 121201
Fetal anomalies v0.3717 KCNQ3 Zornitza Stark Publications for gene: KCNQ3 were set to
Fetal anomalies v0.3716 KCNQ3 Zornitza Stark Mode of inheritance for gene: KCNQ3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3715 KCNQ3 Zornitza Stark changed review comment from: Intellectual disability has been reported as a feature.; to: Clinical presentation is typically post-natal.
Fetal anomalies v0.3715 KCNQ3 Zornitza Stark edited their review of gene: KCNQ3: Changed rating: RED
Fetal anomalies v0.3715 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Fetal anomalies v0.3715 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3715 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 to Long QT syndrome 1, 192500
Fetal anomalies v0.3714 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to
Fetal anomalies v0.3713 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3712 KCNQ1 Zornitza Stark Classified gene: KCNQ1 as Green List (high evidence)
Fetal anomalies v0.3712 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3711 KCNQ1 Zornitza Stark changed review comment from: Can present antenatally with bradycardia, but no specific mention of hydrops.
Sources: Expert Review; to: Can present antenatally with bradycardia.
Sources: Expert Review
Fetal anomalies v0.3711 KCNQ1 Zornitza Stark edited their review of gene: KCNQ1: Changed rating: GREEN
Fetal anomalies v0.3711 KARS Zornitza Stark Marked gene: KARS as ready
Fetal anomalies v0.3711 KARS Zornitza Stark Gene: kars has been classified as Red List (Low Evidence).
Fetal anomalies v0.3711 KARS Zornitza Stark Phenotypes for gene: KARS were changed from DEAFNESS, AUTOSOMAL RECESSIVE 89; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B to Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Fetal anomalies v0.3710 KARS Zornitza Stark Publications for gene: KARS were set to
Fetal anomalies v0.3709 KARS Zornitza Stark changed review comment from: Sources: Expert list; to: Clinical presentation is typically post-natal.
Fetal anomalies v0.3709 KARS Zornitza Stark edited their review of gene: KARS: Changed rating: RED; Changed phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Fetal anomalies v0.3709 NKX2-1 Krithika Murali gene: NKX2-1 was added
gene: NKX2-1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NKX2-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-1 were set to 23911641; 11854319; 24714694
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978
Review for gene: NKX2-1 was set to GREEN
Added comment: Heterozygous variants associated with congenital hypothyroidism, choreathetosis with or without pulmonary dysfunction. Allelic disorder to benign hereditary chorea (118700), which is less severe. Hypoplasia of the thyroid reported in some individuals. OMIM also reports septal heart defects noted in some patients.
Sources: Literature
Fetal anomalies v0.3709 IYD Krithika Murali gene: IYD was added
gene: IYD was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IYD were set to 18434651; 18765512; 838849; 14169503
Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4 - MIM#274800
Review for gene: IYD was set to GREEN
Added comment: Known association with congenital hypothyroidism secondary to thyroid dyshormonogenesis. Although antenatal diagnosis not reported, goitre known phenotypic feature.
Sources: Literature
Fetal anomalies v0.3709 IRS4 Krithika Murali edited their review of gene: IRS4: Added comment: Associated with isolated central congenital hypothyroidism (insufficient pituitary TSH production). Postnatal diagnosis with no prenatal features reported. Small thyroid gland is a late postnatal phenotypic feature.; Changed rating: AMBER
Fetal anomalies v0.3709 IRS4 Krithika Murali gene: IRS4 was added
gene: IRS4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRS4 were set to 34566885; 34225927; 34093435; 33107432; 30061370
Phenotypes for gene: IRS4 were set to Hypothyroidism, congenital, nongoitrous, 9- MIM#301035
Review for gene: IRS4 was set to RED
Added comment: Associated with isolated central congenital hypothyroidism (insufficient pituitary TSH production). Postnatal diagnosis with no prenatal features reported.
Sources: Literature
Fetal anomalies v0.3709 DUOXA2 Krithika Murali gene: DUOXA2 was added
gene: DUOXA2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900
Review for gene: DUOXA2 was set to GREEN
Added comment: Well-established gene disease association with congenital hypothyroidism
Sources: Literature
Fetal anomalies v0.3709 DUOXA1 Krithika Murali gene: DUOXA1 was added
gene: DUOXA1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DUOXA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOXA1 were set to 31428054; 29650690
Phenotypes for gene: DUOXA1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOXA1 was set to AMBER
Added comment: No new publications since last PanelApp review Feb 2021

--

12 cases, but digenic model with variants in other genes
Sources: Literature
Fetal anomalies v0.3709 DUOX2 Krithika Murali gene: DUOX2 was added
gene: DUOX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUOX2 were set to 33692749; 34019632; 34341225; 16134168
Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis 6 - MIM#607200
Review for gene: DUOX2 was set to GREEN
Added comment: Well-established gene disease association with congenital hypothyroidism.
Sources: Literature
Fetal anomalies v0.3709 DUOX1 Krithika Murali gene: DUOX1 was added
gene: DUOX1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOX1 were set to 29650690; 34019632
Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOX1 was set to AMBER
Added comment: Gene reviewed for PanelApp in Feb 2021 - "11 cases, but digenic model, with variants in other genes". No further case reports published since. PMID 34019632 provide evidence of recapitulation of congenital hypothyroidism phenotype in duox mutant zebrafish.
Sources: Literature
Fetal anomalies v0.3709 RNASEH2B Ain Roesley reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3709 RNASEH2A Ain Roesley reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15870678, 25604658, 23592335; Phenotypes: Aicardi-Goutieres syndrome 4 MIM#610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3709 CDCA8 Krithika Murali gene: CDCA8 was added
gene: CDCA8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDCA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism, thyroid dysgenesis, no OMIM #
Review for gene: CDCA8 was set to GREEN
Added comment: Gene associated with congenital hypothyroidism secondary to thyroid dysgenesis. No new publications since last PanelApp review Feb 2021

---

4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants. GREEN for mono allelic, RED for biallelic.
Sources: Literature
Fetal anomalies v0.3709 NPRL3 Krithika Murali gene: NPRL3 was added
gene: NPRL3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL3 were set to 27173016; 26285051; 33461085
Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3- MIM#617118
Review for gene: NPRL3 was set to GREEN
Added comment: Known association with focal epilepsy (variable penetrance) with focal cortical dysplasia being a reported feature. FCD has the potential to be detected prenatally.
Sources: Literature
Fetal anomalies v0.3709 NPRL2 Krithika Murali gene: NPRL2 was added
gene: NPRL2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL2 were set to 29281825; 27173016; 31625153; 33461085; 22268191
Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2 - MIM#617116
Review for gene: NPRL2 was set to GREEN
Added comment: Heterozygous NPRL2 variants associated with focal epilepsy of variable severity. Incomplete penetrance also a known feature. Probands from 3 unrelated families noted to have focal cortical dysplasia which has the potential to be detected prenatally.
Sources: Literature
Fetal anomalies v0.3709 ITGA7 Zornitza Stark Marked gene: ITGA7 as ready
Fetal anomalies v0.3709 ITGA7 Zornitza Stark Gene: itga7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3709 ITGA7 Zornitza Stark Phenotypes for gene: ITGA7 were changed from CONGENITAL MUSCULAR DYSTROPHY to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204
Fetal anomalies v0.3708 ITGA7 Zornitza Stark changed review comment from: Primarily a muscle phenotype, accompanied by gross motor delay as expected. One out of 3 reported individuals had intellectual disability.; to: Primarily a muscle phenotype, typically presents post-natally.
Fetal anomalies v0.3708 ITGA7 Zornitza Stark edited their review of gene: ITGA7: Changed rating: RED
Fetal anomalies v0.3708 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Fetal anomalies v0.3708 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3708 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from MENTAL RETARDATION X-LINKED TYPE 1 to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Fetal anomalies v0.3707 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Fetal anomalies v0.3706 IQSEC2 Zornitza Stark changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Clinical presentation is typically post-natal.
Fetal anomalies v0.3706 IQSEC2 Zornitza Stark edited their review of gene: IQSEC2: Changed rating: RED
Fetal anomalies v0.3706 HYDIN Zornitza Stark Marked gene: HYDIN as ready
Fetal anomalies v0.3706 HYDIN Zornitza Stark Gene: hydin has been classified as Red List (Low Evidence).
Fetal anomalies v0.3706 HYDIN Zornitza Stark Phenotypes for gene: HYDIN were changed from CILIARY DYSKINESIA, PRIMARY, 5 to Ciliary dyskinesia, primary, 5 (MIM#08647)
Fetal anomalies v0.3705 HYDIN Zornitza Stark Publications for gene: HYDIN were set to 30712880
Fetal anomalies v0.3704 HNRNPU Zornitza Stark Marked gene: HNRNPU as ready
Fetal anomalies v0.3704 HNRNPU Zornitza Stark Gene: hnrnpu has been classified as Red List (Low Evidence).
Fetal anomalies v0.3704 HNRNPU Zornitza Stark Phenotypes for gene: HNRNPU were changed from EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, early infantile, 54, MIM#617391
Fetal anomalies v0.3703 HNRNPU Zornitza Stark Publications for gene: HNRNPU were set to
Fetal anomalies v0.3702 HNRNPU Zornitza Stark Mode of inheritance for gene: HNRNPU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3701 HNRNPU Zornitza Stark commented on gene: HNRNPU: Clinical presentation is typically post-natal.
Fetal anomalies v0.3701 HNRNPU Zornitza Stark edited their review of gene: HNRNPU: Changed rating: RED
Fetal anomalies v0.3701 HECW2 Zornitza Stark Marked gene: HECW2 as ready
Fetal anomalies v0.3701 HECW2 Zornitza Stark Gene: hecw2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3701 HECW2 Zornitza Stark Phenotypes for gene: HECW2 were changed from HECW2 to Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268)
Fetal anomalies v0.3700 HECW2 Zornitza Stark Publications for gene: HECW2 were set to
Fetal anomalies v0.3699 HECW2 Zornitza Stark Mode of pathogenicity for gene: HECW2 was changed from to Other
Fetal anomalies v0.3698 HECW2 Zornitza Stark Mode of inheritance for gene: HECW2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3697 HECW2 Zornitza Stark changed review comment from: Typically denovo missense variants in the HECT domain.
PMID: 29807643 - R1191Q single case with severe D/ID, EE and regression
PMID: 29395664 - single case with regression, loss of swallowing, increased abnormal movements/hand stereotypies, Rett like, cortical visual impairment and EE
PMID: 27334371 - propose GOF or dominant negative; 1 case plus references 5 previous cases
PMID: 27389779 - four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. Other common features include seizures, strabismus, nystagmus, cortical visual impairment and dysmorphic facial features. p. Arg1330Trp, p.Glu1445Gly reported >1 case.
Regression reported in the context of refractory EE; to: Clinical presentation is typically post-natal.

Typically denovo missense variants in the HECT domain.
PMID: 29807643 - R1191Q single case with severe D/ID, EE and regression
PMID: 29395664 - single case with regression, loss of swallowing, increased abnormal movements/hand stereotypies, Rett like, cortical visual impairment and EE
PMID: 27334371 - propose GOF or dominant negative; 1 case plus references 5 previous cases
PMID: 27389779 - four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. Other common features include seizures, strabismus, nystagmus, cortical visual impairment and dysmorphic facial features. p. Arg1330Trp, p.Glu1445Gly reported >1 case.
Regression reported in the context of refractory EE
Fetal anomalies v0.3697 HECW2 Zornitza Stark edited their review of gene: HECW2: Changed rating: RED
Fetal anomalies v0.3697 HDAC4 Zornitza Stark Marked gene: HDAC4 as ready
Fetal anomalies v0.3697 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3697 HDAC4 Zornitza Stark Phenotypes for gene: HDAC4 were changed from BRACHYDACTYLY-MENTAL RETARDATION SYNDROME to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability
Fetal anomalies v0.3696 HDAC4 Zornitza Stark Publications for gene: HDAC4 were set to
Fetal anomalies v0.3695 HDAC4 Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3694 HDAC4 Zornitza Stark Classified gene: HDAC4 as Amber List (moderate evidence)
Fetal anomalies v0.3694 HDAC4 Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3693 HDAC4 Zornitza Stark changed review comment from: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only two reports of intragenic variants (still structural rather than SNVs).; to: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only two reports of intragenic variants (still structural rather than SNVs).

Subtle brain abnormalities, hip dislocation reported in PMID 33537682.
Fetal anomalies v0.3693 HADH Zornitza Stark Marked gene: HADH as ready
Fetal anomalies v0.3693 HADH Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence).
Fetal anomalies v0.3693 HADH Zornitza Stark Phenotypes for gene: HADH were changed from 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975
Fetal anomalies v0.3692 HADH Zornitza Stark changed review comment from: Metabolic encephalopathy rather than ID; to: Metabolic encephalopathy, typically presents post-natally.
Fetal anomalies v0.3692 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Fetal anomalies v0.3692 HACE1 Zornitza Stark Gene: hace1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3692 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from HACE1 related disorder to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764
Fetal anomalies v0.3691 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Fetal anomalies v0.3690 HACE1 Zornitza Stark Classified gene: HACE1 as Amber List (moderate evidence)
Fetal anomalies v0.3690 HACE1 Zornitza Stark Gene: hace1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3689 HACE1 Zornitza Stark edited their review of gene: HACE1: Changed rating: AMBER
Fetal anomalies v0.3689 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Fetal anomalies v0.3689 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Fetal anomalies v0.3689 H3F3A Zornitza Stark Phenotypes for gene: H3F3A were changed from Craniofacial with neurodevelopment disorders to Bryant-Li-Bhoj neurodevelopmental syndrome 1, MIM# 619720
Fetal anomalies v0.3688 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Fetal anomalies v0.3687 H3F3A Zornitza Stark Mode of inheritance for gene: H3F3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3686 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Fetal anomalies v0.3686 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Fetal anomalies v0.3685 H3F3A Zornitza Stark changed review comment from: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; to: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, including micro/macrocephaly, craniosynostosis, contractures, congenital heart disease.
Fetal anomalies v0.3685 H19 Zornitza Stark Marked gene: H19 as ready
Fetal anomalies v0.3685 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3685 H19 Zornitza Stark changed review comment from: Part of the BWS/RSS locus but ID not a feature.; to: Methylation changes rather than sequence variation are associated with BWS/RSS.
Fetal anomalies v0.3685 GRIN2A Zornitza Stark Marked gene: GRIN2A as ready
Fetal anomalies v0.3685 GRIN2A Zornitza Stark Gene: grin2a has been classified as Red List (Low Evidence).
Fetal anomalies v0.3685 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; LANDAU-KLEFFNER SYNDROME to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Fetal anomalies v0.3684 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Fetal anomalies v0.3683 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Fetal anomalies v0.3682 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3681 GRIN2A Zornitza Stark changed review comment from: Large cohort of 248 individuals reported in PMID: 30544257: The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe developmental and epileptic encephalopathy, often within the epilepsy-aphasia spectrum. Pathogenic missense variants in transmembrane and linker domains (misTMD+Linker) were associated with severe developmental phenotypes, whereas missense variants within amino terminal or ligand-binding domains (misATD+LBD) and null variants led to less severe developmental phenotypes. Other phenotypes such as MRI abnormalities and epilepsy types were also significantly different between the two groups. Notably, this was paralleled by electrophysiology data, where misTMD+Linker predominantly led to NMDAR gain-of-function, while misATD+LBD exclusively caused NMDAR loss-of-function.; to: Large cohort of 248 individuals reported in PMID: 30544257: The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe developmental and epileptic encephalopathy, often within the epilepsy-aphasia spectrum. Pathogenic missense variants in transmembrane and linker domains (misTMD+Linker) were associated with severe developmental phenotypes, whereas missense variants within amino terminal or ligand-binding domains (misATD+LBD) and null variants led to less severe developmental phenotypes. Other phenotypes such as MRI abnormalities and epilepsy types were also significantly different between the two groups. Notably, this was paralleled by electrophysiology data, where misTMD+Linker predominantly led to NMDAR gain-of-function, while misATD+LBD exclusively caused NMDAR loss-of-function.

Clinical presentation is typically postnatal.
Fetal anomalies v0.3681 GRIN2A Zornitza Stark edited their review of gene: GRIN2A: Changed rating: RED
Fetal anomalies v0.3681 GRIK2 Zornitza Stark Marked gene: GRIK2 as ready
Fetal anomalies v0.3681 GRIK2 Zornitza Stark Gene: grik2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3681 GRIK2 Zornitza Stark Phenotypes for gene: GRIK2 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 to Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580
Fetal anomalies v0.3680 GRIK2 Zornitza Stark Publications for gene: GRIK2 were set to
Fetal anomalies v0.3679 GRIK2 Zornitza Stark Mode of inheritance for gene: GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3678 GRIK2 Zornitza Stark Classified gene: GRIK2 as Amber List (moderate evidence)
Fetal anomalies v0.3678 GRIK2 Zornitza Stark Gene: grik2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3677 GRIK2 Zornitza Stark reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3677 GRIA3 Zornitza Stark Marked gene: GRIA3 as ready
Fetal anomalies v0.3677 GRIA3 Zornitza Stark Gene: gria3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3677 GRIA3 Zornitza Stark Phenotypes for gene: GRIA3 were changed from MENTAL RETARDATION X-LINKED TYPE 94 to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)
Fetal anomalies v0.3676 GRIA3 Zornitza Stark Publications for gene: GRIA3 were set to
Fetal anomalies v0.3675 GRIA3 Zornitza Stark Classified gene: GRIA3 as Amber List (moderate evidence)
Fetal anomalies v0.3675 GRIA3 Zornitza Stark Gene: gria3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3674 GRIA3 Zornitza Stark reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3674 GMPPA Zornitza Stark Marked gene: GMPPA as ready
Fetal anomalies v0.3674 GMPPA Zornitza Stark Gene: gmppa has been classified as Red List (Low Evidence).
Fetal anomalies v0.3674 GMPPA Zornitza Stark Phenotypes for gene: GMPPA were changed from GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Fetal anomalies v0.3673 GMPPA Zornitza Stark Publications for gene: GMPPA were set to
Fetal anomalies v0.3672 GMPPA Zornitza Stark reviewed gene: GMPPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alacrima, achalasia, and mental retardation syndrome (MIM# 615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3672 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Fetal anomalies v0.3672 GLUD1 Zornitza Stark Gene: glud1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3672 GLUD1 Zornitza Stark Phenotypes for gene: GLUD1 were changed from HYPERINSULINISM-HYPERAMMONEMIA SYNDROME to Hyperinsulinism-hyperammonemia syndrome, MIM#606762
Fetal anomalies v0.3671 GLUD1 Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3670 GLUD1 Zornitza Stark changed review comment from: ID is not typically a feature.; to: Clinical presentation is typically postnatal.
Fetal anomalies v0.3670 GHR Zornitza Stark Marked gene: GHR as ready
Fetal anomalies v0.3670 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Fetal anomalies v0.3670 GHR Zornitza Stark Phenotypes for gene: GHR were changed from PITUITARY DWARFISM II to Growth hormone insensitivity, partial, MIM#604271; Laron dwarfism, MIM#262500
Fetal anomalies v0.3669 GHR Zornitza Stark Publications for gene: GHR were set to
Fetal anomalies v0.3668 GHR Zornitza Stark Mode of inheritance for gene: GHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3667 GHR Zornitza Stark Classified gene: GHR as Green List (high evidence)
Fetal anomalies v0.3667 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Fetal anomalies v0.3666 GHR Zornitza Stark Deleted their comment
Fetal anomalies v0.3666 GHR Zornitza Stark edited their review of gene: GHR: Added comment: Birth weight and length are significantly decreased in the more severe, bi-allelic disorder (Laron).; Changed rating: GREEN; Changed publications: 9360502
Fetal anomalies v0.3666 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Fetal anomalies v0.3666 GDF2 Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3666 DDOST Zornitza Stark Marked gene: DDOST as ready
Fetal anomalies v0.3666 DDOST Zornitza Stark Gene: ddost has been classified as Red List (Low Evidence).
Fetal anomalies v0.3666 DDOST Zornitza Stark Phenotypes for gene: DDOST were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR to Congenital disorder of glycosylation, type Ir, MIM# 614507
Fetal anomalies v0.3665 DDOST Zornitza Stark Publications for gene: DDOST were set to
Fetal anomalies v0.3664 DDOST Zornitza Stark edited their review of gene: DDOST: Changed rating: RED
Fetal anomalies v0.3664 CSTB Zornitza Stark Marked gene: CSTB as ready
Fetal anomalies v0.3664 CSTB Zornitza Stark Gene: cstb has been classified as Red List (Low Evidence).
Fetal anomalies v0.3664 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from UNVERRICHT-LUNDBORG DISEASE to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Fetal anomalies v0.3663 CSTB Zornitza Stark Publications for gene: CSTB were set to
Fetal anomalies v0.3662 CSTB Zornitza Stark changed review comment from: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Not appropriate for the ID panel.; to: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. Not appropriate for the Fetal Anomalies panel.
Fetal anomalies v0.3662 COX6B1 Zornitza Stark Marked gene: COX6B1 as ready
Fetal anomalies v0.3662 COX6B1 Zornitza Stark Gene: cox6b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3662 GATM Zornitza Stark Marked gene: GATM as ready
Fetal anomalies v0.3662 GATM Zornitza Stark Gene: gatm has been classified as Red List (Low Evidence).
Fetal anomalies v0.3662 GATM Zornitza Stark Phenotypes for gene: GATM were changed from ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY to Cerebral creatine deficiency syndrome 3, MIM# 612718
Fetal anomalies v0.3661 GATM Zornitza Stark Publications for gene: GATM were set to
Fetal anomalies v0.3660 GATM Zornitza Stark changed review comment from: Bi-allelic variants cause a disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. At least four unrelated families reported.; to: Bi-allelic variants cause a disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. At least four unrelated families reported.

Clinical presentation is typically post-natal.
Fetal anomalies v0.3660 GATM Zornitza Stark edited their review of gene: GATM: Changed rating: RED
Fetal anomalies v0.3660 GATAD2B Zornitza Stark Marked gene: GATAD2B as ready
Fetal anomalies v0.3660 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3660 GATAD2B Zornitza Stark Phenotypes for gene: GATAD2B were changed from NONSPECIFIC SEVERE ID to GAND syndrome, MIM# 615074
Fetal anomalies v0.3659 GATAD2B Zornitza Stark Publications for gene: GATAD2B were set to
Fetal anomalies v0.3658 GATAD2B Zornitza Stark Mode of inheritance for gene: GATAD2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3657 GATAD2B Zornitza Stark Classified gene: GATAD2B as Amber List (moderate evidence)
Fetal anomalies v0.3657 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3656 GATAD2B Zornitza Stark reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: GAND syndrome 615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3656 MYH6 Zornitza Stark Marked gene: MYH6 as ready
Fetal anomalies v0.3656 MYH6 Zornitza Stark Gene: myh6 has been classified as Green List (High Evidence).
Fetal anomalies v0.3656 MYH6 Zornitza Stark Phenotypes for gene: MYH6 were changed from ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14; CARDIOMYOPATHY DILATED TYPE 1EE to Atrial septal defect 3 (MIM#614089)
Fetal anomalies v0.3655 MYH6 Zornitza Stark Publications for gene: MYH6 were set to
Fetal anomalies v0.3654 GAS8 Zornitza Stark Marked gene: GAS8 as ready
Fetal anomalies v0.3654 GAS8 Zornitza Stark Gene: gas8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3654 GAS8 Zornitza Stark Phenotypes for gene: GAS8 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 33, MIM# 616726
Fetal anomalies v0.3653 GAS8 Zornitza Stark Publications for gene: GAS8 were set to 30166424
Fetal anomalies v0.3652 GALT Zornitza Stark Marked gene: GALT as ready
Fetal anomalies v0.3652 GALT Zornitza Stark Gene: galt has been classified as Red List (Low Evidence).
Fetal anomalies v0.3652 GALT Zornitza Stark Phenotypes for gene: GALT were changed from GALACTOSEMIA to Galactosaemia, MIM#230400
Fetal anomalies v0.3651 GALT Zornitza Stark changed review comment from: Clinical presentation is typically postnatal.; to: Clinical presentation is typically postnatal.
Fetal anomalies v0.3651 GALT Zornitza Stark changed review comment from: Most cases should be detected by newborn screening where available, but ID is part of the phenotype.; to: Clinical presentation is typically postnatal.
Fetal anomalies v0.3651 GALT Zornitza Stark edited their review of gene: GALT: Changed phenotypes: Galactosaemia, MIM#230400
Fetal anomalies v0.3651 GALT Zornitza Stark edited their review of gene: GALT: Changed rating: RED
Fetal anomalies v0.3651 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Fetal anomalies v0.3651 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3651 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from CHILDHOOD ABSENCE EPILEPSY TYPE 5; EPILEPTIC ENCEPHALOPATHIES to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Fetal anomalies v0.3650 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Fetal anomalies v0.3649 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3648 GABRB3 Zornitza Stark edited their review of gene: GABRB3: Changed rating: RED
Fetal anomalies v0.3648 FTSJ1 Zornitza Stark Marked gene: FTSJ1 as ready
Fetal anomalies v0.3648 FTSJ1 Zornitza Stark Gene: ftsj1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3648 FTSJ1 Zornitza Stark Phenotypes for gene: FTSJ1 were changed from MENTAL RETARDATION X-LINKED TYPE 44 to Intellectual developmental disorder, X-linked 9, MIM# 309549
Fetal anomalies v0.3647 FTSJ1 Zornitza Stark Publications for gene: FTSJ1 were set to
Fetal anomalies v0.3646 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Fetal anomalies v0.3646 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3646 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Fetal anomalies v0.3645 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Fetal anomalies v0.3644 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3643 FOXP1 Zornitza Stark changed review comment from: Single individual reported as part of a CDH cohort.
Sources: Literature; to: Single individual reported as part of a CDH cohort. Otherwise clinical presentation is typically post-natal.
Sources: Literature
Fetal anomalies v0.3643 FLVCR1 Zornitza Stark Marked gene: FLVCR1 as ready
Fetal anomalies v0.3643 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3643 FLVCR1 Zornitza Stark Phenotypes for gene: FLVCR1 were changed from ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA to Ataxia, posterior column, with retinitis pigmentosa, MIM#609033
Fetal anomalies v0.3642 FLVCR1 Zornitza Stark changed review comment from: progressive neurological condition, ID is not really part of the phenotype.; to: progressive neurological condition, postnatal onset.
Fetal anomalies v0.3642 FGF12 Zornitza Stark Marked gene: FGF12 as ready
Fetal anomalies v0.3642 FGF12 Zornitza Stark Gene: fgf12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3642 FGF12 Zornitza Stark Phenotypes for gene: FGF12 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 47, MIM# 617166
Fetal anomalies v0.3641 FGF12 Zornitza Stark Publications for gene: FGF12 were set to
Fetal anomalies v0.3640 FGF12 Zornitza Stark Mode of inheritance for gene: FGF12 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3639 FGF12 Zornitza Stark edited their review of gene: FGF12: Changed rating: RED
Fetal anomalies v0.3639 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Fetal anomalies v0.3639 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3639 FBXO11 Zornitza Stark Phenotypes for gene: FBXO11 were changed from Variable Neurodevelopmental Disorder to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089
Fetal anomalies v0.3638 FBXO11 Zornitza Stark Publications for gene: FBXO11 were set to 30057029
Fetal anomalies v0.3637 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3636 FBXO11 Zornitza Stark reviewed gene: FBXO11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089; Mode of inheritance: None
Fetal anomalies v0.3636 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Fetal anomalies v0.3636 FARS2 Zornitza Stark Gene: fars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3636 FARS2 Zornitza Stark Phenotypes for gene: FARS2 were changed from Neurometabolic disorder due to FARS2 deficiency to Combined oxidative phosphorylation deficiency 14, MIM#614946
Fetal anomalies v0.3635 FARS2 Zornitza Stark Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3634 FARS2 Zornitza Stark changed review comment from: Severe neurologic phenotype described.; to: Clinical presentation is typically postnatal.
Fetal anomalies v0.3634 FARS2 Zornitza Stark edited their review of gene: FARS2: Changed rating: RED
Fetal anomalies v0.3634 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Fetal anomalies v0.3634 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3634 ERCC6L2 Zornitza Stark Phenotypes for gene: ERCC6L2 were changed from BONE MARROW FAILURE SYNDROME 2 to Bone marrow failure syndrome 2, MIM# 615715
Fetal anomalies v0.3633 ERCC6L2 Zornitza Stark Publications for gene: ERCC6L2 were set to
Fetal anomalies v0.3632 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Amber List (moderate evidence)
Fetal anomalies v0.3632 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3631 ERCC6L2 Zornitza Stark reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2, MIM# 615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3631 Zornitza Stark removed gene:EPHX1 from the panel
Fetal anomalies v0.3630 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Fetal anomalies v0.3630 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3630 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 to Arterial calcification, generalized, of infancy, 1, MIM3 208000; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Fetal anomalies v0.3629 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Fetal anomalies v0.3628 ENPP1 Zornitza Stark Classified gene: ENPP1 as Amber List (moderate evidence)
Fetal anomalies v0.3628 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3627 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19521093; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM3 208000, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3627 EGR2 Zornitza Stark Marked gene: EGR2 as ready
Fetal anomalies v0.3627 EGR2 Zornitza Stark Gene: egr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3627 EGR2 Zornitza Stark Phenotypes for gene: EGR2 were changed from NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 to Charcot-Marie-Tooth disease, type 1D, MIM# 607678; Dejerine-Sottas disease, MIM# 145900; Hypomyelinating neuropathy, congenital, 1, MIM# 605253
Fetal anomalies v0.3626 EGR2 Zornitza Stark Mode of inheritance for gene: EGR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3625 EGR2 Zornitza Stark reviewed gene: EGR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1D, MIM# 607678, Dejerine-Sottas disease, MIM# 145900, Hypomyelinating neuropathy, congenital, 1, MIM# 605253; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3625 DUSP6 Zornitza Stark Marked gene: DUSP6 as ready
Fetal anomalies v0.3625 DUSP6 Zornitza Stark Gene: dusp6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3625 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to
Fetal anomalies v0.3624 DUSP6 Zornitza Stark Mode of inheritance for gene: DUSP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3623 DMP1 Zornitza Stark Marked gene: DMP1 as ready
Fetal anomalies v0.3623 DMP1 Zornitza Stark Gene: dmp1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3623 DMP1 Zornitza Stark Phenotypes for gene: DMP1 were changed from HYPOPHOSPHATEMIC RICKETS, AR to Hypophosphatemic rickets, AR MIM#241520
Fetal anomalies v0.3622 DMP1 Zornitza Stark Publications for gene: DMP1 were set to
Fetal anomalies v0.3621 DLG3 Zornitza Stark Marked gene: DLG3 as ready
Fetal anomalies v0.3621 DLG3 Zornitza Stark Gene: dlg3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3621 DLG3 Zornitza Stark Phenotypes for gene: DLG3 were changed from MENTAL RETARDATION X-LINKED TYPE 90 to Mental retardation, X-linked 90, MIM#300850
Fetal anomalies v0.3620 DLG3 Zornitza Stark Publications for gene: DLG3 were set to
Fetal anomalies v0.3619 DLG3 Zornitza Stark changed review comment from: At least 6 unrelated families reported. Some females have mild symptoms.; to: At least 6 unrelated families reported. Clinical presentation is typically post-natal.
Fetal anomalies v0.3619 DLG3 Zornitza Stark edited their review of gene: DLG3: Changed rating: RED
Fetal anomalies v0.3619 DLAT Zornitza Stark Marked gene: DLAT as ready
Fetal anomalies v0.3619 DLAT Zornitza Stark Gene: dlat has been classified as Red List (Low Evidence).
Fetal anomalies v0.3619 DLAT Zornitza Stark Phenotypes for gene: DLAT were changed from PYRUVATE DEHYDROGENASE E2 DEFICIENCY to Pyruvate dehydrogenase E2 deficiency, MIM#245348
Fetal anomalies v0.3618 DLAT Zornitza Stark Publications for gene: DLAT were set to
Fetal anomalies v0.3617 DLAT Zornitza Stark changed review comment from: Only two families with ID reported; third individual had paroxysmal dyskinesia.; to: Clinical presentation is typically post-natal.
Fetal anomalies v0.3617 DLAT Zornitza Stark edited their review of gene: DLAT: Changed rating: RED
Fetal anomalies v0.3617 DEAF1 Zornitza Stark Marked gene: DEAF1 as ready
Fetal anomalies v0.3617 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3617 DEAF1 Zornitza Stark Phenotypes for gene: DEAF1 were changed from Autism, intellectual disability, basal ganglia dysfunction and epilepsy; MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828
Fetal anomalies v0.3616 DEAF1 Zornitza Stark Publications for gene: DEAF1 were set to
Fetal anomalies v0.3615 DEAF1 Zornitza Stark Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3614 DEAF1 Zornitza Stark Classified gene: DEAF1 as Green List (high evidence)
Fetal anomalies v0.3614 DEAF1 Zornitza Stark Gene: deaf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3613 DEAF1 Zornitza Stark changed review comment from: Bi-allelic disease is through LOF mechanism (PTVs and missense). Mono-allelic disease described in association with de novo missense variants only.

LOF and Dominant-negative
- De novo missense in the SAND domain tend to have a dominant-negative effect
- Biallelic variants in the SAND domain lead to partial loss of function - missense (reduced function), NMD (haploinsufficiency)
- Heterozygous deletions have no phenotype.; to: Bi-allelic disease is through LOF mechanism (PTVs and missense). Mono-allelic disease described in association with de novo missense variants only.

LOF and Dominant-negative
- De novo missense in the SAND domain tend to have a dominant-negative effect
- Biallelic variants in the SAND domain lead to partial loss of function - missense (reduced function), NMD (haploinsufficiency)
- Heterozygous deletions have no phenotype.

Brain abnormalities on imaging, particularly with AD disorder.
Fetal anomalies v0.3613 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Fetal anomalies v0.3613 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3613 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from AMISH INFANTILE EPILEPSY SYNDROME to Salt and pepper developmental regression syndrome; OMIM #609056
Fetal anomalies v0.3612 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Fetal anomalies v0.3611 ST3GAL5 Zornitza Stark Classified gene: ST3GAL5 as Red List (low evidence)
Fetal anomalies v0.3611 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3610 ST3GAL5 Zornitza Stark changed review comment from: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.; to: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.

Clinical presentation is typically post-natal.
Fetal anomalies v0.3610 ST3GAL5 Zornitza Stark edited their review of gene: ST3GAL5: Changed rating: RED
Fetal anomalies v0.3610 RSPRY1 Zornitza Stark Marked gene: RSPRY1 as ready
Fetal anomalies v0.3610 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3610 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
Fetal anomalies v0.3609 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to
Fetal anomalies v0.3608 RSPRY1 Zornitza Stark changed review comment from: Two unrelated individuals reported, some functional evidence. Dev delay/autism part of the phenotype.
Sources: Expert list; to: Two unrelated individuals reported, some functional evidence. Multiple skeletal anomalies.
Sources: Expert list
Fetal anomalies v0.3608 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Fetal anomalies v0.3608 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3608 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from Ciliary dyskinesia, primary 612650 to Ciliary dyskinesia, primary, MIM# 612650
Fetal anomalies v0.3607 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Fetal anomalies v0.3606 RSPH9 Zornitza Stark Classified gene: RSPH9 as Red List (low evidence)
Fetal anomalies v0.3606 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3605 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Fetal anomalies v0.3605 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Fetal anomalies v0.3605 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Fetal anomalies v0.3604 RSPH4A Zornitza Stark Classified gene: RSPH4A as Red List (low evidence)
Fetal anomalies v0.3604 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Fetal anomalies v0.3603 RRAS2 Zornitza Stark Marked gene: RRAS2 as ready
Fetal anomalies v0.3603 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3603 RRAS2 Zornitza Stark Publications for gene: RRAS2 were set to
Fetal anomalies v0.3602 RRAS2 Zornitza Stark Mode of inheritance for gene: RRAS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3601 RRAS2 Zornitza Stark Classified gene: RRAS2 as Green List (high evidence)
Fetal anomalies v0.3601 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3600 RRAS Zornitza Stark Marked gene: RRAS as ready
Fetal anomalies v0.3600 RRAS Zornitza Stark Gene: rras has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3600 RRAS Zornitza Stark Phenotypes for gene: RRAS were changed from ATYPICAL NOONAN SYNDROME to Noonan syndrome
Fetal anomalies v0.3599 RRAS Zornitza Stark Publications for gene: RRAS were set to
Fetal anomalies v0.3598 RRAS Zornitza Stark Mode of inheritance for gene: RRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3597 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Fetal anomalies v0.3597 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3597 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Fetal anomalies v0.3596 RPS7 Zornitza Stark Mode of inheritance for gene: RPS7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3595 RPS7 Zornitza Stark Classified gene: RPS7 as Green List (high evidence)
Fetal anomalies v0.3595 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3594 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Fetal anomalies v0.3594 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Fetal anomalies v0.3594 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3593 RPS24 Zornitza Stark Classified gene: RPS24 as Green List (high evidence)
Fetal anomalies v0.3593 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Fetal anomalies v0.3592 RPS23 Zornitza Stark Marked gene: RPS23 as ready
Fetal anomalies v0.3592 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3592 RPS23 Zornitza Stark Phenotypes for gene: RPS23 were changed from Microcephaly, hearing loss, and dysmorphic features to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Fetal anomalies v0.3591 RPS23 Zornitza Stark Publications for gene: RPS23 were set to
Fetal anomalies v0.3590 RPS23 Zornitza Stark Mode of inheritance for gene: RPS23 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3589 RPS23 Zornitza Stark changed review comment from: Two unrelated individuals and some functional data.; to: Two unrelated individuals and some functional data. Microcephaly; cleft palate in one.
Fetal anomalies v0.3589 MYH3 Zornitza Stark Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3588 MYH3 Zornitza Stark reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3588 MYH6 Alison Yeung Mode of inheritance for gene: MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3587 MYH3 Alison Yeung Marked gene: MYH3 as ready
Fetal anomalies v0.3587 MYH3 Alison Yeung Gene: myh3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3587 MYH3 Alison Yeung Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A; DISTAL ARTHROGRYPOSIS TYPE 2B to Arthrogryposis, distal, type 2A (Freeman-Sheldon) MIM# 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) MIM# 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, MIM#178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, MIM# 618469
Fetal anomalies v0.3586 MYH3 Alison Yeung Publications for gene: MYH3 were set to
Fetal anomalies v0.3585 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Fetal anomalies v0.3585 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Fetal anomalies v0.3585 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Fetal anomalies v0.3584 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3583 RPL35A Zornitza Stark Classified gene: RPL35A as Green List (high evidence)
Fetal anomalies v0.3583 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Fetal anomalies v0.3582 RPL10 Zornitza Stark Marked gene: RPL10 as ready
Fetal anomalies v0.3582 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Fetal anomalies v0.3582 RPL10 Zornitza Stark Publications for gene: RPL10 were set to
Fetal anomalies v0.3581 RPL10 Zornitza Stark Classified gene: RPL10 as Green List (high evidence)
Fetal anomalies v0.3581 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Fetal anomalies v0.3580 RPL10 Zornitza Stark changed review comment from: At least three families reported. Progressive microcephaly, up to -9.6 SD described.
Sources: Expert list; to: At least three families reported. Progressive microcephaly, up to -9.6 SD described. IUGR, congenital heart disease.

Sources: Expert list
Fetal anomalies v0.3580 RORA Zornitza Stark Marked gene: RORA as ready
Fetal anomalies v0.3580 RORA Zornitza Stark Gene: rora has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3580 RORA Zornitza Stark Phenotypes for gene: RORA were changed from INTELLECTUAL DISABILITY to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060
Fetal anomalies v0.3579 RORA Zornitza Stark Publications for gene: RORA were set to
Fetal anomalies v0.3578 RORA Zornitza Stark Mode of pathogenicity for gene: RORA was changed from Other to None
Fetal anomalies v0.3577 RORA Zornitza Stark Mode of pathogenicity for gene: RORA was changed from to Other
Fetal anomalies v0.3576 RORA Zornitza Stark Mode of inheritance for gene: RORA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3575 RORA Zornitza Stark changed review comment from: Eleven unrelated individuals with de novo variants in this gene; postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.
Sources: Expert list; to: Eleven unrelated individuals with de novo variants in this gene; postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.

Clinical presentation is generally post-natal, but pontocerebellar hypoplasia rarely reported.

Sources: Expert list
Fetal anomalies v0.3575 RORA Zornitza Stark edited their review of gene: RORA: Changed rating: AMBER
Fetal anomalies v0.3575 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Fetal anomalies v0.3575 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3575 ROBO3 Zornitza Stark Publications for gene: ROBO3 were set to
Fetal anomalies v0.3574 ROBO3 Zornitza Stark Classified gene: ROBO3 as Green List (high evidence)
Fetal anomalies v0.3574 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3573 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Fetal anomalies v0.3573 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3573 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT to Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922
Fetal anomalies v0.3572 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Fetal anomalies v0.3571 RMND1 Zornitza Stark Classified gene: RMND1 as Green List (high evidence)
Fetal anomalies v0.3571 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3570 RMND1 Zornitza Stark reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3570 RLIM Zornitza Stark Marked gene: RLIM as ready
Fetal anomalies v0.3570 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Fetal anomalies v0.3570 RLIM Zornitza Stark Phenotypes for gene: RLIM were changed from INTELLECTUAL DISABILITY to Tonne-Kalscheuer syndrome, MIM# 300978
Fetal anomalies v0.3569 RLIM Zornitza Stark Publications for gene: RLIM were set to
Fetal anomalies v0.3568 RLIM Zornitza Stark Classified gene: RLIM as Green List (high evidence)
Fetal anomalies v0.3568 RLIM Zornitza Stark Gene: rlim has been classified as Green List (High Evidence).
Fetal anomalies v0.3567 RIN2 Zornitza Stark Marked gene: RIN2 as ready
Fetal anomalies v0.3567 RIN2 Zornitza Stark Gene: rin2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3567 RIN2 Zornitza Stark Phenotypes for gene: RIN2 were changed from MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS to Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075
Fetal anomalies v0.3566 RIN2 Zornitza Stark Publications for gene: RIN2 were set to
Fetal anomalies v0.3565 RIN2 Zornitza Stark Classified gene: RIN2 as Green List (high evidence)
Fetal anomalies v0.3565 RIN2 Zornitza Stark Gene: rin2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3564 RIN2 Zornitza Stark changed review comment from: Macrocephaly, subcortical cysts and other brain abnormalities are a feature.; to: Macrocephaly, subcortical cysts and other brain abnormalities are a feature. More than 5 unrelated families reported.
Fetal anomalies v0.3564 RIN2 Zornitza Stark edited their review of gene: RIN2: Changed publications: 19631308, 20424861, 20954239, 24449201, 30769224
Fetal anomalies v0.3564 RIN2 Zornitza Stark changed review comment from: ID is not a key feature of this syndrome, most individuals described as having normal/borderline intellect.; to: Macrocephaly, subcortical cysts and other brain abnormalities are a feature.
Fetal anomalies v0.3564 RIN2 Zornitza Stark edited their review of gene: RIN2: Changed rating: GREEN
Fetal anomalies v0.3564 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Fetal anomalies v0.3564 RFT1 Zornitza Stark Gene: rft1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3564 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Fetal anomalies v0.3563 RFT1 Zornitza Stark changed review comment from: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.; to: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported.

Clinical presentation is typically post-natal, though age of onset of microcephaly is uncertain.
Fetal anomalies v0.3563 RFT1 Zornitza Stark edited their review of gene: RFT1: Changed rating: AMBER
Fetal anomalies v0.3563 RBM10 Zornitza Stark Marked gene: RBM10 as ready
Fetal anomalies v0.3563 RBM10 Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence).
Fetal anomalies v0.3563 RBM10 Zornitza Stark Publications for gene: RBM10 were set to
Fetal anomalies v0.3562 RBM10 Zornitza Stark Classified gene: RBM10 as Green List (high evidence)
Fetal anomalies v0.3562 RBM10 Zornitza Stark Gene: rbm10 has been classified as Green List (High Evidence).
Fetal anomalies v0.3561 RBM10 Zornitza Stark Deleted their comment
Fetal anomalies v0.3561 RBM10 Zornitza Stark edited their review of gene: RBM10: Added comment: Well established gene-disease association, multiple congenital anomalies.; Changed rating: GREEN; Changed publications: 20451169, 24259342, 30450804, 30189253
Fetal anomalies v0.3561 DUSP6 Belinda Chong reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia MIM615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3561 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Fetal anomalies v0.3561 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Fetal anomalies v0.3561 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2, MONDO:0011715; Seckel syndrome 2, OMIM:606744 to Jawad syndrome, MIM# 251255; Seckel syndrome 2, MONDO:0011715; Seckel syndrome 2, OMIM:606744
Fetal anomalies v0.3560 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Fetal anomalies v0.3559 RBBP8 Zornitza Stark Classified gene: RBBP8 as Green List (high evidence)
Fetal anomalies v0.3559 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Fetal anomalies v0.3558 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Fetal anomalies v0.3558 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Fetal anomalies v0.3558 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP 0 to Fanconi anemia, complementation group O, MIM# 613390
Fetal anomalies v0.3557 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Fetal anomalies v0.3556 RAD51C Zornitza Stark Classified gene: RAD51C as Green List (high evidence)
Fetal anomalies v0.3556 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Fetal anomalies v0.3555 RAD51 Zornitza Stark Marked gene: RAD51 as ready
Fetal anomalies v0.3555 RAD51 Zornitza Stark Gene: rad51 has been classified as Green List (High Evidence).
Fetal anomalies v0.3555 RAD51 Zornitza Stark Phenotypes for gene: RAD51 were changed from MIRROR MOVEMENTS 2 to Fanconi anaemia, complementation group R, MIM# 617244
Fetal anomalies v0.3554 RAD51 Zornitza Stark Publications for gene: RAD51 were set to
Fetal anomalies v0.3553 RAD51 Zornitza Stark Mode of inheritance for gene: RAD51 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3552 RAD51 Zornitza Stark Classified gene: RAD51 as Green List (high evidence)
Fetal anomalies v0.3552 RAD51 Zornitza Stark Gene: rad51 has been classified as Green List (High Evidence).
Fetal anomalies v0.3551 RAD51 Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. However, only one had radial ray abnormalities.
Sources: Expert Review; to: Three unrelated individuals reported with de novo variants in this gene and FA phenotype.
Sources: Expert Review
Fetal anomalies v0.3551 RAD51 Zornitza Stark edited their review of gene: RAD51: Changed rating: GREEN
Fetal anomalies v0.3551 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Fetal anomalies v0.3551 RAB11B Zornitza Stark Gene: rab11b has been classified as Green List (High Evidence).
Fetal anomalies v0.3551 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from INTELLECTUAL DISABILITY to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM# 617807
Fetal anomalies v0.3550 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Fetal anomalies v0.3549 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3548 RAB11B Zornitza Stark Classified gene: RAB11B as Green List (high evidence)
Fetal anomalies v0.3548 RAB11B Zornitza Stark Gene: rab11b has been classified as Green List (High Evidence).
Fetal anomalies v0.3547 RAB11A Zornitza Stark Marked gene: RAB11A as ready
Fetal anomalies v0.3547 RAB11A Zornitza Stark Gene: rab11a has been classified as Red List (Low Evidence).
Fetal anomalies v0.3547 RAB11A Zornitza Stark Publications for gene: RAB11A were set to
Fetal anomalies v0.3546 RAB11A Zornitza Stark Mode of inheritance for gene: RAB11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3545 RAB11A Zornitza Stark Classified gene: RAB11A as Red List (low evidence)
Fetal anomalies v0.3545 RAB11A Zornitza Stark Gene: rab11a has been classified as Red List (Low Evidence).
Fetal anomalies v0.3544 RAB11A Zornitza Stark changed review comment from: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.
Sources: Literature; to: Five individuals reported with DNMs and neurodevelopmental phenotypes as part of this paper; however, clinical details are sparse. Emerging gene, phenotype not yet clearly delineated.

Clinical presentation is post-natal.
Sources: Literature
Fetal anomalies v0.3544 RAB11A Zornitza Stark edited their review of gene: RAB11A: Changed rating: RED
Fetal anomalies v0.3544 DMP1 Belinda Chong reviewed gene: DMP1: Rating: RED; Mode of pathogenicity: None; Publications: 17033625, 17033621, 31843680; Phenotypes: Hypophosphatemic rickets, AR MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3544 DLD Zornitza Stark Marked gene: DLD as ready
Fetal anomalies v0.3544 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
Fetal anomalies v0.3544 DLD Zornitza Stark Phenotypes for gene: DLD were changed from LEIGH SYNDROME; DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY to Dihydrolipoamide dehydrogenase deficiency MIM#246900
Fetal anomalies v0.3543 DLD Zornitza Stark Publications for gene: DLD were set to
Fetal anomalies v0.3542 WNT9B Zornitza Stark Marked gene: WNT9B as ready
Fetal anomalies v0.3542 WNT9B Zornitza Stark Gene: wnt9b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3542 WNT9B Zornitza Stark Classified gene: WNT9B as Amber List (moderate evidence)
Fetal anomalies v0.3542 WNT9B Zornitza Stark Gene: wnt9b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3541 DLD Belinda Chong reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: 3769994, 8506365, 9934985, 17404228, 21558426, 21930696; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3541 WNT9B Krithika Murali gene: WNT9B was added
gene: WNT9B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT9B were set to 34145744
Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia, no OMIM #
Review for gene: WNT9B was set to AMBER
Added comment: Now new publications since last PanelApp review Sept 2021

---

WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities.

Lemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance.
Sources: Literature
Fetal anomalies v0.3541 TBCK Zornitza Stark Marked gene: TBCK as ready
Fetal anomalies v0.3541 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Fetal anomalies v0.3541 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from Severe Infantile Syndromic Encephalopathy to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Fetal anomalies v0.3540 TBCK Zornitza Stark Publications for gene: TBCK were set to
Fetal anomalies v0.3539 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3539 TBL1XR1 Zornitza Stark Marked gene: TBL1XR1 as ready
Fetal anomalies v0.3539 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3539 TBL1XR1 Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from Intellectual disability with autism spectrum disorder; Pierpont syndrome to Mental retardation, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
Fetal anomalies v0.3538 TBL1XR1 Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3537 TBL1XR1 Zornitza Stark changed review comment from: Well established gene-disease association. However, few if any significant congenital anomalies associated.; to: Well established gene-disease associations. However, few if any significant congenital anomalies associated.
Fetal anomalies v0.3537 TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3537 TBX15 Zornitza Stark Marked gene: TBX15 as ready
Fetal anomalies v0.3537 TBX15 Zornitza Stark Gene: tbx15 has been classified as Green List (High Evidence).
Fetal anomalies v0.3537 TBX15 Zornitza Stark Phenotypes for gene: TBX15 were changed from Cousin Syndrome; Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature to Cousin syndrome, MIM# 260660; Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature
Fetal anomalies v0.3536 TBX15 Zornitza Stark Publications for gene: TBX15 were set to
Fetal anomalies v0.3535 TBX15 Zornitza Stark reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068278, 24039145; Phenotypes: Cousin syndrome, MIM# 260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3535 TBX18 Zornitza Stark Marked gene: TBX18 as ready
Fetal anomalies v0.3535 TBX18 Zornitza Stark Gene: tbx18 has been classified as Green List (High Evidence).
Fetal anomalies v0.3535 TBX18 Zornitza Stark Phenotypes for gene: TBX18 were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 to Congenital anomalies of kidney and urinary tract 2, MIM# 143400
Fetal anomalies v0.3534 TBX18 Zornitza Stark Publications for gene: TBX18 were set to
Fetal anomalies v0.3533 TBX18 Zornitza Stark Mode of inheritance for gene: TBX18 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3532 TBX18 Zornitza Stark reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235987; Phenotypes: Congenital anomalies of kidney and urinary tract 2, MIM# 143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3532 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Fetal anomalies v0.3532 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Fetal anomalies v0.3532 TBX20 Zornitza Stark Phenotypes for gene: TBX20 were changed from ATRIAL SEPTAL DEFECT TYPE 4 to Atrial septal defect 4, MIM# 611363
Fetal anomalies v0.3531 TBX20 Zornitza Stark Publications for gene: TBX20 were set to
Fetal anomalies v0.3530 TBX20 Zornitza Stark Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3529 TBX20 Zornitza Stark reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668378, 19762328, 33585493, 29089047; Phenotypes: Atrial septal defect 4, MIM# 611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3529 TBX4 Zornitza Stark Marked gene: TBX4 as ready
Fetal anomalies v0.3529 TBX4 Zornitza Stark Gene: tbx4 has been classified as Green List (High Evidence).
Fetal anomalies v0.3529 TBX4 Zornitza Stark Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 to Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360; Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891
Fetal anomalies v0.3528 TBX4 Zornitza Stark Publications for gene: TBX4 were set to
Fetal anomalies v0.3527 TBX4 Zornitza Stark Mode of inheritance for gene: TBX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3526 TBX4 Zornitza Stark reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23592887, 31151956, 31761294, 31965066; Phenotypes: Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360, Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3526 TCF12 Zornitza Stark Marked gene: TCF12 as ready
Fetal anomalies v0.3526 TCF12 Zornitza Stark Gene: tcf12 has been classified as Green List (High Evidence).
Fetal anomalies v0.3526 TCF12 Zornitza Stark Phenotypes for gene: TCF12 were changed from CORONAL CRANIOSYNOSTOSIS to Craniosynostosis 3, MIM# 615314
Fetal anomalies v0.3525 TCF12 Zornitza Stark Publications for gene: TCF12 were set to
Fetal anomalies v0.3524 TCF12 Zornitza Stark Mode of inheritance for gene: TCF12 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3523 TCF12 Zornitza Stark reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354436; Phenotypes: Craniosynostosis 3, MIM# 615314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3523 TBX6 Zornitza Stark Marked gene: TBX6 as ready
Fetal anomalies v0.3523 TBX6 Zornitza Stark Gene: tbx6 has been classified as Green List (High Evidence).
Fetal anomalies v0.3523 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5 122600 to Spondylocostal dysostosis 5 , MIM#122600
Fetal anomalies v0.3522 TBX6 Zornitza Stark Publications for gene: TBX6 were set to
Fetal anomalies v0.3521 TBX6 Zornitza Stark Mode of inheritance for gene: TBX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3520 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Fetal anomalies v0.3520 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3520 TCOF1 Zornitza Stark Phenotypes for gene: TCOF1 were changed from TREACHER COLLINS SYNDROME TYPE 1 to Treacher Collins syndrome 1, MIM# 154500
Fetal anomalies v0.3519 TCOF1 Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3518 TCOF1 Zornitza Stark reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3518 TGDS Zornitza Stark Marked gene: TGDS as ready
Fetal anomalies v0.3518 TGDS Zornitza Stark Gene: tgds has been classified as Green List (High Evidence).
Fetal anomalies v0.3518 TGDS Zornitza Stark Phenotypes for gene: TGDS were changed from CATEL-MANZKE SYNDROME to Catel-Manzke syndrome, MIM# 616145
Fetal anomalies v0.3517 TGDS Zornitza Stark Publications for gene: TGDS were set to
Fetal anomalies v0.3516 TGDS Zornitza Stark reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480037; Phenotypes: Catel-Manzke syndrome, MIM# 616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3516 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
Fetal anomalies v0.3516 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3516 TGFB2 Zornitza Stark Phenotypes for gene: TGFB2 were changed from LOEYS-DIETZ SYNDROME, TYPE 4 to Loeys-Dietz syndrome 4, MIM# 614816
Fetal anomalies v0.3515 TGFB2 Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3514 TGFB2 Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3514 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Fetal anomalies v0.3514 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3514 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome 5, MIM# 615582
Fetal anomalies v0.3513 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3512 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3512 THOC6 Zornitza Stark Marked gene: THOC6 as ready
Fetal anomalies v0.3512 THOC6 Zornitza Stark Gene: thoc6 has been classified as Green List (High Evidence).
Fetal anomalies v0.3512 THOC6 Zornitza Stark Phenotypes for gene: THOC6 were changed from Beaulieu-Boycott-Innes syndrome to Beaulieu-Boycott-Innes syndrome, MIM# 613680
Fetal anomalies v0.3511 THOC6 Zornitza Stark Publications for gene: THOC6 were set to
Fetal anomalies v0.3510 THOC6 Zornitza Stark reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23621916, 26739162, 27102954, 30238602, 30476144; Phenotypes: Beaulieu-Boycott-Innes syndrome, MIM# 613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3510 TBC1D1 Krithika Murali gene: TBC1D1 was added
gene: TBC1D1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBC1D1 were set to 26572137
Phenotypes for gene: TBC1D1 were set to CAKUT
Review for gene: TBC1D1 was set to GREEN
Added comment: No new publications since last PanelApp review included below

---
1 heterozygous de novo frameshift variant in TBC1D1 in 1 CAKUT.
3 further CAKUT cases with three novel or rare inherited heterozygous TBC1D1 missense variants predicted to be pathogenic. TBC1D1 mutations affected Ser237-phosphorylation or protein stability and thereby act as hypomorphs. Tbc1d1 showed widespread expression in the developing murine urogenital system. A mild CAKUT spectrum phenotype, including anomalies observed in patients carrying TBC1D1 mutations, was found in kidneys of some Tbc1d1 (-/-) mice. Significantly reduced Glut4 levels were detected in kidneys of Tbc1d1 (-/-) mice and the dysplastic kidney of a TBC1D1 mutation carrier versus controls. TBC1D1 and SLC2A4 encoding GLUT4 were highly expressed in human fetal kidney. These data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype, and provide evidence that TBC1D1 mutations may contribute to CAKUT pathogenesis, possibly via a role in glucose homeostasis.
Sources: Literature
Fetal anomalies v0.3510 THRA Zornitza Stark edited their review of gene: THRA: Changed publications: 22168587, 22494134, 25670821
Fetal anomalies v0.3510 THRA Zornitza Stark Marked gene: THRA as ready
Fetal anomalies v0.3510 THRA Zornitza Stark Gene: thra has been classified as Green List (High Evidence).
Fetal anomalies v0.3510 THRA Zornitza Stark Phenotypes for gene: THRA were changed from HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
Fetal anomalies v0.3509 THRA Zornitza Stark Publications for gene: THRA were set to
Fetal anomalies v0.3508 SRGAP1 Krithika Murali gene: SRGAP1 was added
gene: SRGAP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SRGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRGAP1 were set to 26026792
Phenotypes for gene: SRGAP1 were set to congenital anomalies of the kidney and urinary tract
Review for gene: SRGAP1 was set to AMBER
Added comment: PMID 26026792 Hwang et al report 2 unrelated families with heterozygous SRGAP1 variants.
- Family 1 - proband with prenatally diagnosed multicystic dysplastic kidney, affected mother with right duplex kidney
- Family 2 - proband with horseshoe kidney with a multicystic dysplastic right upper pole. Variant paternally inherited, father not available for renal ultrasound

Supportive mouse models
Sources: Literature
Fetal anomalies v0.3508 THRA Zornitza Stark Mode of inheritance for gene: THRA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3507 THRA Zornitza Stark reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3507 TMCO1 Zornitza Stark Marked gene: TMCO1 as ready
Fetal anomalies v0.3507 TMCO1 Zornitza Stark Gene: tmco1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3507 TMCO1 Zornitza Stark Phenotypes for gene: TMCO1 were changed from CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Fetal anomalies v0.3506 TMCO1 Zornitza Stark Publications for gene: TMCO1 were set to
Fetal anomalies v0.3505 TMCO1 Zornitza Stark changed review comment from: Multiple families reported. Although some have the same recurrent founder variants, sufficient number of families from different ethnicities and with different variants reported for Green rating.; to: Multiple families reported. Although some have the same recurrent founder variants, sufficient number of families from different ethnicities and with different variants reported for Green rating.

Skeletal abnormalities are pertinent to this panel.
Fetal anomalies v0.3505 TMCO1 Zornitza Stark reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20018682, 23320496, 24194475, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3505 TPM3 Zornitza Stark Marked gene: TPM3 as ready
Fetal anomalies v0.3505 TPM3 Zornitza Stark Gene: tpm3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3505 TPM3 Zornitza Stark Phenotypes for gene: TPM3 were changed from Congenital fiber-type disproportion myopathy 255310 to Myopathy, congenital, with fiber-type disproportion, MIM# 255310
Fetal anomalies v0.3504 TPM3 Zornitza Stark reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3504 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Fetal anomalies v0.3504 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3504 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750
Fetal anomalies v0.3503 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Fetal anomalies v0.3502 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33527515; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3502 SLIT2 Krithika Murali gene: SLIT2 was added
gene: SLIT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLIT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLIT2 were set to 26026792; 15130495
Phenotypes for gene: SLIT2 were set to CAKUT; vesicoureteric reflux
Review for gene: SLIT2 was set to AMBER
Added comment: PMID 26026792 Hwang et al 2019 - identified three unrelated individuals with CAKUT and different heterozygous SLIT2 missense mutations.
- 1 patient presented with multiple bilateral subcortical renal cysts
- 1 patient presented with multicystic dysplastic kidneys
- 1 patient had right renal agenesis

Authors provide supportive variant-specific mouse models.

PMID: 34059960 Liu et al 2021 - 3 unrelated children from a Chinese Kidney Disease Database with vesicoureteric reflux had SLIT3 VUS identified

PMID 19350278 Zu et al 2009 - x2 unrelated individuals with SLIT2 variants - not segregating with disease in either family
Sources: Literature
Fetal anomalies v0.3502 NEK9 Zornitza Stark Marked gene: NEK9 as ready
Fetal anomalies v0.3502 NEK9 Zornitza Stark Gene: nek9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3502 NEK9 Zornitza Stark Phenotypes for gene: NEK9 were changed from 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 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 v0.3501 NEK9 Zornitza Stark edited their review of gene: NEK9: Changed rating: AMBER; Changed phenotypes: Lethal congenital contracture syndrome 10, MIM# 617022, Skeletal dysplasia
Fetal anomalies v0.3501 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Fetal anomalies v0.3501 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Fetal anomalies v0.3501 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; ?Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444 to Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444
Fetal anomalies v0.3500 NEK8 Zornitza Stark Classified gene: NEK8 as Green List (high evidence)
Fetal anomalies v0.3500 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Fetal anomalies v0.3499 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Fetal anomalies v0.3499 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Fetal anomalies v0.3499 NEDD4L Zornitza Stark Publications for gene: NEDD4L were set to
Fetal anomalies v0.3498 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3497 NEDD4L Zornitza Stark Classified gene: NEDD4L as Green List (high evidence)
Fetal anomalies v0.3497 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Fetal anomalies v0.3496 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Fetal anomalies v0.3496 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3496 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from LEIGH SYNDROME to Mitochondrial complex I deficiency, nuclear type 10, MIM#618233
Fetal anomalies v0.3495 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Fetal anomalies v0.3494 NDUFAF2 Zornitza Stark Classified gene: NDUFAF2 as Red List (low evidence)
Fetal anomalies v0.3494 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3493 NDUFAF2 Zornitza Stark changed review comment from: At least four unrelated families reported, complex neurological presentation with optic atrophy, nystagmus, ataxia in some, others described as ventilator-dependent. ID is unlikely to be the presenting or main feature.; to: At least four unrelated families reported, complex neurological presentation with optic atrophy, nystagmus, ataxia in some, others described as ventilator-dependent. Clinical presentation is typically post-natal.
Fetal anomalies v0.3493 NDUFAF2 Zornitza Stark edited their review of gene: NDUFAF2: Changed rating: RED
Fetal anomalies v0.3493 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Fetal anomalies v0.3493 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3493 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from LEIGH SYNDROME DUP to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243
Fetal anomalies v0.3492 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Fetal anomalies v0.3491 NDUFA10 Zornitza Stark changed review comment from: Two families, functional data, but phenotypic description only available for one, IUGR reported.; to: Two families, functional data, IUGR reported.
Fetal anomalies v0.3491 NDUFA10 Zornitza Stark changed review comment from: Two families, functional data, but phenotypic description only available for one (DD/ID part of the phenotype).; to: Two families, functional data, but phenotypic description only available for one, IUGR reported.
Fetal anomalies v0.3491 NAA15 Zornitza Stark Marked gene: NAA15 as ready
Fetal anomalies v0.3491 NAA15 Zornitza Stark Gene: naa15 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3491 NAA15 Zornitza Stark Phenotypes for gene: NAA15 were changed from CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, MIM 617787
Fetal anomalies v0.3490 NAA15 Zornitza Stark Publications for gene: NAA15 were set to
Fetal anomalies v0.3489 NAA15 Zornitza Stark Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3488 NAA15 Zornitza Stark Classified gene: NAA15 as Red List (low evidence)
Fetal anomalies v0.3488 NAA15 Zornitza Stark Gene: naa15 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3487 NAA15 Zornitza Stark reviewed gene: NAA15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, MIM 617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3487 SEMA3A Zornitza Stark Mode of inheritance for gene: SEMA3A was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3486 SEMA3A Zornitza Stark Phenotypes for gene: SEMA3A were changed from {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; skeletal anomalies
Fetal anomalies v0.3485 SEMA3A Zornitza Stark Classified gene: SEMA3A as Green List (high evidence)
Fetal anomalies v0.3485 SEMA3A Zornitza Stark Gene: sema3a has been classified as Green List (High Evidence).
Fetal anomalies v0.3484 SEMA3A Krithika Murali gene: SEMA3A was added
gene: SEMA3A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SEMA3A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 28075028; 33369061; 20301509; 21059704; 24124006; 22927827
Phenotypes for gene: SEMA3A were set to {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease
Review for gene: SEMA3A was set to GREEN
Added comment: Heterozygous variants associated with isolated GnRH deficiency with or without anosmia (Kallman syndrome like). Anomalies such as unilateral renal aplasia which can be detected antenatally reported with Kallman syndrome but not published with heterozygous SEMA3A variants.

More severe phenotype with biallelic SEMA3A variants reported with features detectable antenatally.

PMID 33369061 Gileta et al 2021 - report x1 patient. Female proband was compound heterozygote for a nonsense variant and a multiexonic deletion of SEMA3A. Presents with postnatal short stature, congenital cardiac anomalies, dysmorphic features, hypogonadotrophic hypogonadism and anosmia.

PMID 28075028 Baumann et al 2017 - report x1 patient. Homozygous LoF variants identified in a proband from a consanguineous Turkish family. Noted at birth to have a high-positioned scapulae, deformed ribs and a lateral clavicular hook. The patient also had upper/lower limb contractures and aberrant right subclavian artery. Mild facial dysmorphism, micropenis and hypogonadotrophic hypogonadism also noted in the first week of life. Postnatal short stature (length 50cm at term birth)

PMID 24124006 Hofmann et al 2013 - first reported biallelic variants in a proband with postnatal short stature, skeletal anomalies of the thorax, congenital heart
defect and camptodactyly
Sources: Literature
Fetal anomalies v0.3484 ROBO2 Zornitza Stark Marked gene: ROBO2 as ready
Fetal anomalies v0.3484 ROBO2 Zornitza Stark Gene: robo2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3484 ROBO2 Zornitza Stark Classified gene: ROBO2 as Green List (high evidence)
Fetal anomalies v0.3484 ROBO2 Zornitza Stark Gene: robo2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3483 HOXB6 Zornitza Stark Marked gene: HOXB6 as ready
Fetal anomalies v0.3483 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3483 HOXB6 Zornitza Stark Classified gene: HOXB6 as Red List (low evidence)
Fetal anomalies v0.3483 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3482 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Fetal anomalies v0.3482 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3482 COQ7 Zornitza Stark Classified gene: COQ7 as Green List (high evidence)
Fetal anomalies v0.3482 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3481 CDX2 Zornitza Stark Marked gene: CDX2 as ready
Fetal anomalies v0.3481 CDX2 Zornitza Stark Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3481 CDX2 Zornitza Stark Classified gene: CDX2 as Amber List (moderate evidence)
Fetal anomalies v0.3481 CDX2 Zornitza Stark Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3480 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Fetal anomalies v0.3480 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3480 TLK2 Zornitza Stark Classified gene: TLK2 as Green List (high evidence)
Fetal anomalies v0.3480 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3479 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Fetal anomalies v0.3479 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3479 STAT3 Zornitza Stark Classified gene: STAT3 as Green List (high evidence)
Fetal anomalies v0.3479 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3478 STAT3 Zornitza Stark reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome - MIM#147060, Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3478 RNU12 Zornitza Stark Marked gene: RNU12 as ready
Fetal anomalies v0.3478 RNU12 Zornitza Stark Gene: rnu12 has been classified as Green List (High Evidence).
Fetal anomalies v0.3478 RNU12 Zornitza Stark Classified gene: RNU12 as Green List (high evidence)
Fetal anomalies v0.3478 RNU12 Zornitza Stark Gene: rnu12 has been classified as Green List (High Evidence).
Fetal anomalies v0.3477 PJA1 Zornitza Stark Marked gene: PJA1 as ready
Fetal anomalies v0.3477 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3477 PJA1 Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence)
Fetal anomalies v0.3477 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3476 PHEX Zornitza Stark Marked gene: PHEX as ready
Fetal anomalies v0.3476 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Fetal anomalies v0.3476 PHEX Zornitza Stark Classified gene: PHEX as Green List (high evidence)
Fetal anomalies v0.3476 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Fetal anomalies v0.3475 LTBP1 Zornitza Stark Marked gene: LTBP1 as ready
Fetal anomalies v0.3475 LTBP1 Zornitza Stark Gene: ltbp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3475 LTBP1 Zornitza Stark Classified gene: LTBP1 as Green List (high evidence)
Fetal anomalies v0.3475 LTBP1 Zornitza Stark Gene: ltbp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3474 EFNA4 Zornitza Stark Marked gene: EFNA4 as ready
Fetal anomalies v0.3474 EFNA4 Zornitza Stark Gene: efna4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3474 EFNA4 Zornitza Stark Classified gene: EFNA4 as Amber List (moderate evidence)
Fetal anomalies v0.3474 EFNA4 Zornitza Stark Gene: efna4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3473 DHH Zornitza Stark Marked gene: DHH as ready
Fetal anomalies v0.3473 DHH Zornitza Stark Gene: dhh has been classified as Red List (Low Evidence).
Fetal anomalies v0.3473 DHH Zornitza Stark Phenotypes for gene: DHH were changed from 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 46XY sex reversal 7 to 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080
Fetal anomalies v0.3472 DHH Zornitza Stark Publications for gene: DHH were set to
Fetal anomalies v0.3471 DEPDC5 Zornitza Stark Marked gene: DEPDC5 as ready
Fetal anomalies v0.3471 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3471 DEPDC5 Zornitza Stark Phenotypes for gene: DEPDC5 were changed from FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI to Epilepsy, familial focal, with variable foci 1 MIM#604364
Fetal anomalies v0.3470 DEPDC5 Zornitza Stark Publications for gene: DEPDC5 were set to
Fetal anomalies v0.3469 DEPDC5 Zornitza Stark Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3468 DDHD2 Zornitza Stark Marked gene: DDHD2 as ready
Fetal anomalies v0.3468 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3468 DDHD2 Zornitza Stark Phenotypes for gene: DDHD2 were changed from COMPLEX HEREDITARY SPASTIC PARAPLEGIA to Spastic paraplegia 54, autosomal recessive, MIM# 615033; MONDO:0014018
Fetal anomalies v0.3467 DDHD2 Zornitza Stark Publications for gene: DDHD2 were set to
Fetal anomalies v0.3466 DDHD1 Zornitza Stark Marked gene: DDHD1 as ready
Fetal anomalies v0.3466 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3466 DDHD1 Zornitza Stark Phenotypes for gene: DDHD1 were changed from HEREDITARY SPASTIC PARAPLEGIA to Spastic paraplegia 28, autosomal recessive, 609340; MONDO:0012256
Fetal anomalies v0.3465 DDHD1 Zornitza Stark Publications for gene: DDHD1 were set to
Fetal anomalies v0.3464 ROBO2 Krithika Murali gene: ROBO2 was added
gene: ROBO2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO2 were set to 18235093; 19350278; 24429398; 17357069; 26026792; 29194579; 34059960
Phenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2 - MIM#610878; CAKUT
Review for gene: ROBO2 was set to GREEN
Added comment: Known association with familial vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.
Sources: Literature
Fetal anomalies v0.3464 HOXB6 Krithika Murali gene: HOXB6 was added
gene: HOXB6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HOXB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXB6 were set to 17003840; 22371315
Phenotypes for gene: HOXB6 were set to Hypospadias
Review for gene: HOXB6 was set to RED
Added comment: PMID 17003840 Chen et al 2007 report 2 babies with hypospadias and heterozygous HOXB6 variants. Cohort of 90 unrelated Chinese patients with hypospadias and 380 controls.

x1 patient - heterozygous, maternally inherited HOXB6 c.124C>A p.P42T in a child with scrotal, micropenis, bifid scrotum, cryptorchidism. Baby also has maternally inherited SRD5A2 and de novo MID1 variant. The HOXB6 variant is absent from gnomad v2, v3, not previously reported in ClinVar, minor GS change (38), moderately conserved (change in non-placental mammals), not in a region of missense constraint.

x1 patient - penile hypospadias, heterozygous HOXB6 c.367T>C p.C123R. No segregation information. 5 hets (East Asian, gnomad v2), 2 hets (East Asian, gnomad v3). GS 180, conserved in mammals (changed in birds), not in a region of missense constraint, not previously reported in ClinVar, predicted to escape NMD.

x2 patients with hypospadias from a single study, variants of uncertain significance.
Sources: Literature
Fetal anomalies v0.3464 DDC Zornitza Stark Marked gene: DDC as ready
Fetal anomalies v0.3464 DDC Zornitza Stark Gene: ddc has been classified as Red List (Low Evidence).
Fetal anomalies v0.3464 DDC Zornitza Stark Publications for gene: DDC were set to
Fetal anomalies v0.3463 DDB2 Zornitza Stark Marked gene: DDB2 as ready
Fetal anomalies v0.3463 DDB2 Zornitza Stark Gene: ddb2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3463 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE to Xeroderma pigmentosum, group E, DDB-negative subtype MIM#278740
Fetal anomalies v0.3462 DDB2 Zornitza Stark Publications for gene: DDB2 were set to
Fetal anomalies v0.3461 FUZ Zornitza Stark Marked gene: FUZ as ready
Fetal anomalies v0.3461 FUZ Zornitza Stark Gene: fuz has been classified as Red List (Low Evidence).
Fetal anomalies v0.3461 FUZ Zornitza Stark Publications for gene: FUZ were set to
Fetal anomalies v0.3460 FUZ Zornitza Stark Mode of inheritance for gene: FUZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3459 DBT Zornitza Stark Marked gene: DBT as ready
Fetal anomalies v0.3459 DBT Zornitza Stark Gene: dbt has been classified as Red List (Low Evidence).
Fetal anomalies v0.3459 DBT Zornitza Stark Phenotypes for gene: DBT were changed from MAPLE SYRUP URINE DISEASEQ to Maple syrup urine disease, type II (MIM#248600)
Fetal anomalies v0.3458 DBT Zornitza Stark Publications for gene: DBT were set to
Fetal anomalies v0.3457 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Fetal anomalies v0.3457 DARS2 Zornitza Stark Gene: dars2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3457 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Fetal anomalies v0.3456 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Fetal anomalies v0.3455 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Fetal anomalies v0.3455 TTC19 Zornitza Stark Gene: ttc19 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3455 TTC19 Zornitza Stark Phenotypes for gene: TTC19 were changed from MITOCHONDRIAL COMPLEX III DEFICIENCY to Mitochondrial complex III deficiency, nuclear type 2 (MIM#615157)
Fetal anomalies v0.3454 TTC19 Zornitza Stark Publications for gene: TTC19 were set to
Fetal anomalies v0.3453 CYP19A1 Zornitza Stark Marked gene: CYP19A1 as ready
Fetal anomalies v0.3453 CYP19A1 Zornitza Stark Gene: cyp19a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3453 CYP19A1 Zornitza Stark Phenotypes for gene: CYP19A1 were changed from Aromatase deficiency 613546; Aromatase excess syndrome 139300 to Aromatase deficiency (MIM#613546), AR; Aromatase excess syndrome (MIM#139300), AD
Fetal anomalies v0.3452 CYP19A1 Zornitza Stark Publications for gene: CYP19A1 were set to
Fetal anomalies v0.3451 CYP19A1 Zornitza Stark Mode of inheritance for gene: CYP19A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3450 TNXB Zornitza Stark Marked gene: TNXB as ready
Fetal anomalies v0.3450 TNXB Zornitza Stark Gene: tnxb has been classified as Red List (Low Evidence).
Fetal anomalies v0.3450 TNXB Zornitza Stark Publications for gene: TNXB were set to
Fetal anomalies v0.3449 TNXB Zornitza Stark reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vesicoureteral reflux 8, MIM#615963; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3449 FLRT3 Zornitza Stark Marked gene: FLRT3 as ready
Fetal anomalies v0.3449 FLRT3 Zornitza Stark Gene: flrt3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3449 FLRT3 Zornitza Stark Phenotypes for gene: FLRT3 were changed from Hypogonadotropic hypogonadism 21 with anosmia 615271 to Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)
Fetal anomalies v0.3448 FLRT3 Zornitza Stark Publications for gene: FLRT3 were set to
Fetal anomalies v0.3447 FLRT3 Zornitza Stark Mode of inheritance for gene: FLRT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3446 TMEM126B Zornitza Stark Marked gene: TMEM126B as ready
Fetal anomalies v0.3446 TMEM126B Zornitza Stark Gene: tmem126b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3446 TMEM126B Zornitza Stark Phenotypes for gene: TMEM126B were changed from Muscle Weakness and Isolated Complex I Deficiency to Mitochondrial complex I deficiency, nuclear type 29 (MIM#618250)
Fetal anomalies v0.3445 TMEM126B Zornitza Stark Publications for gene: TMEM126B were set to
Fetal anomalies v0.3444 TMEM126B Zornitza Stark Classified gene: TMEM126B as Amber List (moderate evidence)
Fetal anomalies v0.3444 TMEM126B Zornitza Stark Gene: tmem126b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3443 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Fetal anomalies v0.3443 FLAD1 Zornitza Stark Gene: flad1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3443 FLAD1 Zornitza Stark Phenotypes for gene: FLAD1 were changed from Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Fetal anomalies v0.3442 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
Fetal anomalies v0.3441 TK2 Zornitza Stark Marked gene: TK2 as ready
Fetal anomalies v0.3441 TK2 Zornitza Stark Gene: tk2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3441 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM to Mitochondrial DNA depletion syndrome 2 (myopathic type) (MIM#609560)
Fetal anomalies v0.3440 FGF20 Zornitza Stark Marked gene: FGF20 as ready
Fetal anomalies v0.3440 FGF20 Zornitza Stark Gene: fgf20 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3440 FGF20 Zornitza Stark Phenotypes for gene: FGF20 were changed from ?Renal hypodysplasia/aplasia 2, 615721 to Renal hypodysplasia/aplasia 2, MIM#615721
Fetal anomalies v0.3439 FGF20 Zornitza Stark Classified gene: FGF20 as Amber List (moderate evidence)
Fetal anomalies v0.3439 FGF20 Zornitza Stark Gene: fgf20 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3438 FGF17 Zornitza Stark Marked gene: FGF17 as ready
Fetal anomalies v0.3438 FGF17 Zornitza Stark Gene: fgf17 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3438 FGF17 Zornitza Stark Publications for gene: FGF17 were set to
Fetal anomalies v0.3437 FGF17 Zornitza Stark Mode of inheritance for gene: FGF17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3436 TEK Zornitza Stark Marked gene: TEK as ready
Fetal anomalies v0.3436 TEK Zornitza Stark Gene: tek has been classified as Red List (Low Evidence).
Fetal anomalies v0.3436 TEK Zornitza Stark Phenotypes for gene: TEK were changed from VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL to Glaucoma 3, primary congenital, E (MIM#617272); Venous malformations, multiple cutaneous and mucosal (MIM#600195)
Fetal anomalies v0.3435 TEK Zornitza Stark Publications for gene: TEK were set to
Fetal anomalies v0.3434 TBXAS1 Zornitza Stark Phenotypes for gene: TBXAS1 were changed from Ghosal hematodiaphyseal syndrome (MIM#231095) to Ghosal haematodiaphyseal syndrome (MIM#231095)
Fetal anomalies v0.3433 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Fetal anomalies v0.3433 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3433 TBXAS1 Zornitza Stark Phenotypes for gene: TBXAS1 were changed from GHOSAL HEMATODIAPHYSEAL SYNDROME to Ghosal hematodiaphyseal syndrome (MIM#231095)
Fetal anomalies v0.3432 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Fetal anomalies v0.3432 TANGO2 Zornitza Stark Gene: tango2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3432 TANGO2 Zornitza Stark Phenotypes for gene: TANGO2 were changed from Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MIM#616878)
Fetal anomalies v0.3431 TANGO2 Zornitza Stark Publications for gene: TANGO2 were set to
Fetal anomalies v0.3430 TANGO2 Zornitza Stark reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MIM#616878); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3430 ZFYVE26 Zornitza Stark Marked gene: ZFYVE26 as ready
Fetal anomalies v0.3430 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3430 ZFYVE26 Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 to Spastic paraplegia 15, autosomal recessive MIM#270700
Fetal anomalies v0.3429 ZFYVE26 Zornitza Stark Publications for gene: ZFYVE26 were set to
Fetal anomalies v0.3428 ZFYVE26 Zornitza Stark reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3428 SYP Zornitza Stark Marked gene: SYP as ready
Fetal anomalies v0.3428 SYP Zornitza Stark Gene: syp has been classified as Red List (Low Evidence).
Fetal anomalies v0.3428 SYP Zornitza Stark Phenotypes for gene: SYP were changed from MENTAL RETARDATION X-LINKED SYP-RELATED to Intellectual developmental disorder, X-linked 96 (MIM#300802)
Fetal anomalies v0.3427 SYP Zornitza Stark Publications for gene: SYP were set to
Fetal anomalies v0.3426 SYP Zornitza Stark reviewed gene: SYP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3426 CYC1 Zornitza Stark Marked gene: CYC1 as ready
Fetal anomalies v0.3426 CYC1 Zornitza Stark Gene: cyc1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3426 CYC1 Zornitza Stark Phenotypes for gene: CYC1 were changed from MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 to Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453
Fetal anomalies v0.3425 CYC1 Zornitza Stark Publications for gene: CYC1 were set to
Fetal anomalies v0.3424 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Fetal anomalies v0.3424 SURF1 Zornitza Stark Gene: surf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3424 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from LEIGH SYNDROME; COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 1 (MIM#220110)
Fetal anomalies v0.3423 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Fetal anomalies v0.3422 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Fetal anomalies v0.3422 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3422 ZDHHC9 Zornitza Stark Phenotypes for gene: ZDHHC9 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED to Mental retardation, X-linked syndromic, Raymond type, MIM# 300799
Fetal anomalies v0.3421 ZDHHC9 Zornitza Stark Classified gene: ZDHHC9 as Amber List (moderate evidence)
Fetal anomalies v0.3421 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3420 ZDHHC9 Zornitza Stark reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Raymond type, MIM# 300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3420 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Fetal anomalies v0.3420 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3420 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 to Developmental and epileptic encephalopathy 4 (MIM#612164)
Fetal anomalies v0.3419 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Fetal anomalies v0.3418 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3417 STXBP1 Zornitza Stark reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4 (MIM#612164); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3417 XPC Zornitza Stark Marked gene: XPC as ready
Fetal anomalies v0.3417 XPC Zornitza Stark Gene: xpc has been classified as Red List (Low Evidence).
Fetal anomalies v0.3417 XPC Zornitza Stark Phenotypes for gene: XPC were changed from XERODERMA PIGMENTOSUM, GROUP C to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211
Fetal anomalies v0.3416 XPC Zornitza Stark Publications for gene: XPC were set to
Fetal anomalies v0.3415 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Fetal anomalies v0.3415 WDR45 Zornitza Stark Gene: wdr45 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3415 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from NEURODEGENERATION WITH BRAIN IRON ACCUMULATION to Neurodegeneration with brain iron accumulation 5, MIM# 300894; Rett syndrome; Rett-like phenotypes
Fetal anomalies v0.3414 WDR45 Zornitza Stark Publications for gene: WDR45 were set to
Fetal anomalies v0.3413 COQ7 Krithika Murali gene: COQ7 was added
gene: COQ7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 33215859; 28125198; 31240163; 28409910; 26084283
Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8 - MIM#616733
Review for gene: COQ7 was set to GREEN
Added comment: Biallelic variants associated with primary coenzyme Q10 (CoQ10) deficiency, a heterogeneous multi-system disorder including early-postnatal features such as neonatal encephalopathy, contractures. Antenatal features reported include IUGR, oligohydramnios, feetal lung hypoplasia, dysplastic kidneys.

Specifically for COQ7-related CoQ10 deficiency:

PMID 33215859 Hashemi et al 2020 - report two affected individuals from a consanguineous Iranian family with homozygous COQ7 variants progressive spastic paraparesis diagnosed at age 1.5-2 with normal antenatal history.

PMID 31240163 Kwong et al 2019 - report a patient with compound hetereozygous COQ7 variants, encephalo‐myo‐nephro‐cardiopathy, persistent lactic acidosis, and basal ganglia lesions resulting in early infantile death. Skin fibroblast studies showed decreased combined complex II + III activity and reduction in CoQ10 level. The proband was a DCDA twin, noted to have IUGR, oligohydramnios, cardiomegaly and tricuspid regurgitation antenatally.

PMID 28409910 Wang et al 2017 - no antenatal features reported in their proband

PMID 26084283 Freyer et al 2015 - report x1 patient with homozygous COQ7 variant. The pregnancy was complicated by oligohydramniosis, fetal lung hypoplasia and growth retardation.
Sources: Literature
Fetal anomalies v0.3413 SPTBN5 Zornitza Stark Marked gene: SPTBN5 as ready
Fetal anomalies v0.3413 SPTBN5 Zornitza Stark Gene: sptbn5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3413 SPTBN5 Zornitza Stark Mode of inheritance for gene: SPTBN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3412 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Fetal anomalies v0.3412 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3412 SPTBN2 Zornitza Stark Phenotypes for gene: SPTBN2 were changed from Infantile ataxia with oculomotor and pyramidal signs; SCA14; Spinocerebellar ataxia, autosomal recessive 14, 615386 to Spinocerebellar ataxia 5 (MIM#600224); Spinocerebellar ataxia, autosomal recessive 14 (MIM#615386)
Fetal anomalies v0.3411 SPTBN2 Zornitza Stark Publications for gene: SPTBN2 were set to 28636205; 29196973
Fetal anomalies v0.3410 SPTBN2 Zornitza Stark Mode of inheritance for gene: SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3409 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Fetal anomalies v0.3409 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3409 SMARCAL1 Zornitza Stark Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia (MIM#242900)
Fetal anomalies v0.3408 SMARCAL1 Zornitza Stark Publications for gene: SMARCAL1 were set to
Fetal anomalies v0.3407 SMARCAL1 Zornitza Stark Classified gene: SMARCAL1 as Green List (high evidence)
Fetal anomalies v0.3407 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3406 SP110 Zornitza Stark Marked gene: SP110 as ready
Fetal anomalies v0.3406 SP110 Zornitza Stark Gene: sp110 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3406 SP110 Zornitza Stark Publications for gene: SP110 were set to
Fetal anomalies v0.3405 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Fetal anomalies v0.3405 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3405 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from X-LINKED CREATINE DEFICIENCY SYNDROME to Cerebral creatine deficiency syndrome 1 (MIM#300352)
Fetal anomalies v0.3404 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Fetal anomalies v0.3403 SLC6A8 Zornitza Stark Classified gene: SLC6A8 as Amber List (moderate evidence)
Fetal anomalies v0.3403 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3402 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Fetal anomalies v0.3402 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3402 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from BROWN-VIALETTO-VAN LAERE SYNDROME to Brown-Vialetto-Van Laere syndrome 1 (MIM#211530)
Fetal anomalies v0.3401 SLC52A3 Zornitza Stark Publications for gene: SLC52A3 were set to
Fetal anomalies v0.3400 CDX2 Krithika Murali gene: CDX2 was added
gene: CDX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDX2 were set to 29177441
Phenotypes for gene: CDX2 were set to Persistent cloaca
Review for gene: CDX2 was set to AMBER
Added comment: De novo heterozygous variants detected in 2 patients with persistent cloaca. This condition. can rarely be detected antenatally.
Sources: Literature
Fetal anomalies v0.3400 TLK2 Krithika Murali gene: TLK2 was added
gene: TLK2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TLK2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TLK2 were set to 29861108; 31558842; 34821460
Phenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57 - MIM#618050
Review for gene: TLK2 was set to GREEN
Added comment: Associated with syndromic ID. Potential to detect reported phenotypic features of microcephaly, IUGR, craniosynostosis (rare) antenatally.
Sources: Literature
Fetal anomalies v0.3400 STAT3 Krithika Murali gene: STAT3 was added
gene: STAT3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 30617622; 31771449; 34366294
Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome - MIM#147060; Autoimmune disease, multisystem, infantile-onset, 1 - MIM#615952
Added comment: Well known association with Hyper IgE syndrome and multisystem autoimmune disease. Early post-natal diagnosis reported. Prenatally detectable features include craniosynostosis and IUGR.

31771449 Terry et al 2020 report a baby with a de novo heterozygous likely pathogenic STAT3 variant. Severe IUGR and oligohydramnios was noted on USS at 21 weeks gestation.
Sources: Literature
Fetal anomalies v0.3400 RNU12 Krithika Murali gene: RNU12 was added
gene: RNU12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations
Review for gene: RNU12 was set to GREEN
Added comment: No new publications since last PanelApp review July 2021

---

5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events.
Sources: Literature
Fetal anomalies v0.3400 PJA1 Krithika Murali gene: PJA1 was added
gene: PJA1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PJA1 were set to 32530565
Phenotypes for gene: PJA1 were set to Trigonocephaly, intellectual disability
Review for gene: PJA1 was set to AMBER
Added comment: No new publications since last PanelApp review August 2020

--

Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect.
Sources: Literature
Fetal anomalies v0.3400 PHEX Krithika Murali gene: PHEX was added
gene: PHEX was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PHEX were set to 29791829; 16055933; 19219621; 9106524
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant - MIM#307800
Review for gene: PHEX was set to GREEN
Added comment: Well-known association with hypophosphataemic rickets with some phenotypic features potentially detectable antenatally (skeletal, craniosynostosis). Early therapeutic interventions available.
Sources: Literature
Fetal anomalies v0.3400 LTBP1 Krithika Murali gene: LTBP1 was added
gene: LTBP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE - MIM#619451
Review for gene: LTBP1 was set to GREEN
Added comment: Homozygous premature truncating LTBP1 variants in eight affected individuals from four unrelated consanguineous families reported associated with autosomal recessive cutis laxa type IIE. Phenotypic features relevant in the prenatal setting include:
- Congenital diaphragmatic hernia (1 individual)
- Cleft palate (2 individuals)
- Congenital heart defects
- Renal anomalies (1 individual)
- Microretrognathia (1 individual)
- Hydrocephalus (1 individual)
- Skeletal anomalies (craniosynostosis, short stature, brachydactyly, and syndactyly).

Supportive patient-derived fibroblast and zebrafish studies.
Sources: Literature
Fetal anomalies v0.3400 EFNA4 Krithika Murali gene: EFNA4 was added
gene: EFNA4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EFNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EFNA4 were set to 29215649; 29168297; 16540516
Phenotypes for gene: EFNA4 were set to Craniosynostosis
Review for gene: EFNA4 was set to AMBER
Added comment: PMID 29215649 Lee et al 2018 - Cohort of 309 individuals with craniosynostosis tested with a 20-gene panel. Report 1 individual with unicoronal CS with a likely pathogenic EFNA4 variant.

PMID 29168297 Clarke et al 2018 - Study enrolled 397 probands with single suture CS. Report one maternally inherited EFNA4 VUS NM_005227.2:c.550C>T; p.(Leu184Phe) with metopic CS, x1 het in gnomad (v2), variant predicted to escape NMD, not reported in ClinVar/Decipher.

PMID 16540516 Merrill et al 2006 - Tested 81 patients with non-syndromic coronal CS. 3 heterozygous EFNA4 variants detected - x2 missense variants:
- c.178C>T p.H60Y -- 361 hets gnomad
- c.349 C>A p.P117T - 337 hets
- novel frameshift delin 471_472delCCinsA.

All 3 variants inherited from unaffected parent. Functional studies on fibroblast cells from the proband with the frameshift delin variant demonstrated an alternatively spliced minor isoform of EFNA4.
Sources: Literature
Fetal anomalies v0.3400 DHH Belinda Chong edited their review of gene: DHH: Changed rating: RED
Fetal anomalies v0.3400 DHH Belinda Chong reviewed gene: DHH: Rating: ; Mode of pathogenicity: None; Publications: 31018998, 29471294, 11017805; Phenotypes: 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DEPDC5 Belinda Chong reviewed gene: DEPDC5: Rating: RED; Mode of pathogenicity: None; Publications: 23542697, 23542701, 24814846, 24585383, 26505888, 27173016, 31444548; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3400 DDHD2 Belinda Chong reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033, MONDO:0014018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DDHD1 Belinda Chong reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DDC Belinda Chong reviewed gene: DDC: Rating: RED; Mode of pathogenicity: None; Publications: 20505134, 33528536, 30799092, 33996177; Phenotypes: Aromatic L-amino acid decarboxylase deficiency MIM#608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DDB2 Belinda Chong reviewed gene: DDB2: Rating: RED; Mode of pathogenicity: None; Publications: 33544716, 32457468, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype MIM#278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 FUZ Ain Roesley reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: 21840926; Phenotypes: {Neural tube defects, susceptibility to} MIM#182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3400 DBT Belinda Chong reviewed gene: DBT: Rating: RED; Mode of pathogenicity: None; Publications: 9239422, 10915611, 20570198; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 DARS2 Belinda Chong edited their review of gene: DARS2: Set current diagnostic: yes
Fetal anomalies v0.3400 DARS2 Belinda Chong reviewed gene: DARS2: Rating: RED; Mode of pathogenicity: None; Publications: 17384640, 15002045, 16788019, 30352563; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3400 TTC19 Daniel Flanagan reviewed gene: TTC19: Rating: RED; Mode of pathogenicity: None; Publications: 23532514, 24368687; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2 (MIM#615157); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3400 CYP19A1 Belinda Chong reviewed gene: CYP19A1: Rating: RED; Mode of pathogenicity: None; Publications: 17164303, 25264451; Phenotypes: Aromatase deficiency (MIM#613546), AR, Aromatase excess syndrome (MIM#139300), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3400 TNXB Daniel Flanagan reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: 19921645, 28306229, 28306225, 23620400; Phenotypes: Vesicoureteral reflux 8 (MIM#615963), Ehlers-Danlos syndrome, classic-like, 1 (MIM#606408); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3400 FTSJ1 Ain Roesley reviewed gene: FTSJ1: Rating: RED; Mode of pathogenicity: None; Publications: 15342698, 18081026, 15162322, 26310293; Phenotypes: 15342698, 18081026, 15162322, 26310293; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3400 MYOCD Zornitza Stark Marked gene: MYOCD as ready
Fetal anomalies v0.3400 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Fetal anomalies v0.3400 MYOCD Zornitza Stark Classified gene: MYOCD as Green List (high evidence)
Fetal anomalies v0.3400 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Fetal anomalies v0.3399 MYO9A Zornitza Stark Marked gene: MYO9A as ready
Fetal anomalies v0.3399 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Fetal anomalies v0.3399 MYO9A Zornitza Stark Classified gene: MYO9A as Green List (high evidence)
Fetal anomalies v0.3399 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Fetal anomalies v0.3398 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3398 MYMK Zornitza Stark Marked gene: MYMK as ready
Fetal anomalies v0.3398 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Fetal anomalies v0.3398 MYMK Zornitza Stark Classified gene: MYMK as Red List (low evidence)
Fetal anomalies v0.3398 MYMK Zornitza Stark Gene: mymk has been classified as Red List (Low Evidence).
Fetal anomalies v0.3397 FLRT3 Ain Roesley reviewed gene: FLRT3: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 31200363; Phenotypes: Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3397 MYL1 Zornitza Stark Marked gene: MYL1 as ready
Fetal anomalies v0.3397 MYL1 Zornitza Stark Gene: myl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3397 MYL1 Zornitza Stark Classified gene: MYL1 as Red List (low evidence)
Fetal anomalies v0.3397 MYL1 Zornitza Stark Gene: myl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3396 TMEM126B Daniel Flanagan reviewed gene: TMEM126B: Rating: AMBER; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29 (MIM#618250); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 FLAD1 Ain Roesley reviewed gene: FLAD1: Rating: RED; Mode of pathogenicity: None; Publications: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3396 TK2 Daniel Flanagan reviewed gene: TK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) (MIM#609560); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 FGF20 Ain Roesley commented on gene: FGF20: Multiple affected fetuses in a consanguineous family; functional data.
Fetal anomalies v0.3396 FGF20 Ain Roesley reviewed gene: FGF20: Rating: AMBER; Mode of pathogenicity: None; Publications: 22698282; Phenotypes: Renal hypodysplasia/aplasia 2, MIM#615721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3396 FGF17 Ain Roesley reviewed gene: FGF17: Rating: RED; Mode of pathogenicity: None; Publications: 31200363, 31748124, 23643382; Phenotypes: Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3396 TEK Daniel Flanagan reviewed gene: TEK: Rating: RED; Mode of pathogenicity: None; Publications: 19888299; Phenotypes: Glaucoma 3, primary congenital, E (MIM#617272), Venous malformations, multiple cutaneous and mucosal (MIM#600195); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3396 TBXAS1 Daniel Flanagan reviewed gene: TBXAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ghosal hematodiaphyseal syndrome (MIM#231095); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 TANGO2 Daniel Flanagan reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: None; Publications: 26805781, 26805782, 30245509; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MIM#616878); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 ZFYVE26 Ain Roesley reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: None; Publications: 34057829; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3396 SYP Daniel Flanagan reviewed gene: SYP: Rating: RED; Mode of pathogenicity: None; Publications: 19377476; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3396 CYC1 Belinda Chong reviewed gene: CYC1: Rating: RED; Mode of pathogenicity: None; Publications: 23910460; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 SURF1 Daniel Flanagan reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: 23829769; Phenotypes: Charcot-Marie-Tooth disease, type 4K (MIM#616684), Mitochondrial complex IV deficiency, nuclear type 1 (MIM#220110); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3396 ZDHHC9 Ain Roesley reviewed gene: ZDHHC9: Rating: RED; Mode of pathogenicity: None; Publications: Mental retardation, X-linked syndromic, Raymond typeMIM# 300799; Phenotypes: Mental retardation, X-linked syndromic, Raymond typeMIM# 300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3396 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Fetal anomalies v0.3396 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3396 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262 to Ebstein anomaly; Laing distal myopathy, MIM# 160500
Fetal anomalies v0.3395 MYH7 Zornitza Stark Publications for gene: MYH7 were set to 22859017; 26337809; 25547560
Fetal anomalies v0.3394 MYH7 Zornitza Stark Mode of pathogenicity for gene: MYH7 was changed from to Other
Fetal anomalies v0.3393 MYH7 Zornitza Stark Classified gene: MYH7 as Green List (high evidence)
Fetal anomalies v0.3393 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3392 MYH2 Zornitza Stark Marked gene: MYH2 as ready
Fetal anomalies v0.3392 MYH2 Zornitza Stark Gene: myh2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3392 MYH2 Zornitza Stark Publications for gene: MYH2 were set to 15548556; 11114175; 24193343; 23388406; 20418530; 23489661
Fetal anomalies v0.3391 MYH2 Zornitza Stark Classified gene: MYH2 as Green List (high evidence)
Fetal anomalies v0.3391 MYH2 Zornitza Stark Gene: myh2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3390 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Fetal anomalies v0.3390 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3390 MSMO1 Zornitza Stark Publications for gene: MSMO1 were set to 21285510; 24144731
Fetal anomalies v0.3389 MSMO1 Zornitza Stark Classified gene: MSMO1 as Green List (high evidence)
Fetal anomalies v0.3389 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3388 MRPS34 Zornitza Stark Marked gene: MRPS34 as ready
Fetal anomalies v0.3388 MRPS34 Zornitza Stark Gene: mrps34 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3388 MRPS34 Zornitza Stark Phenotypes for gene: MRPS34 were changed from Leigh Syndrome with Instability of the Small Mitoribosomal Subunit to Combined oxidative phosphorylation deficiency 32, MIM# 617664
Fetal anomalies v0.3387 MRPS34 Zornitza Stark Publications for gene: MRPS34 were set to
Fetal anomalies v0.3386 MRPS34 Zornitza Stark changed review comment from: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy.
Sources: Expert list; to: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy.

Onset of microcephaly uncertain, other clinical features present post-natally.

Sources: Expert list
Fetal anomalies v0.3386 MRPS34 Zornitza Stark edited their review of gene: MRPS34: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 32, MIM# 617664
Fetal anomalies v0.3386 MRAS Zornitza Stark Marked gene: MRAS as ready
Fetal anomalies v0.3386 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Fetal anomalies v0.3386 MRAS Zornitza Stark Mode of inheritance for gene: MRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3385 MRAS Zornitza Stark Classified gene: MRAS as Green List (high evidence)
Fetal anomalies v0.3385 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Fetal anomalies v0.3384 MOGS Zornitza Stark Marked gene: MOGS as ready
Fetal anomalies v0.3384 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Fetal anomalies v0.3384 MOGS Zornitza Stark Publications for gene: MOGS were set to
Fetal anomalies v0.3383 MOGS Zornitza Stark Classified gene: MOGS as Green List (high evidence)
Fetal anomalies v0.3383 MOGS Zornitza Stark Gene: mogs has been classified as Green List (High Evidence).
Fetal anomalies v0.3382 STXBP1 Daniel Flanagan reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: None; Publications: 31855252, 18469812; Phenotypes: Developmental and epileptic encephalopathy 4 (MIM#612164); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3382 MN1 Zornitza Stark Marked gene: MN1 as ready
Fetal anomalies v0.3382 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3382 MN1 Zornitza Stark Mode of inheritance for gene: MN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3381 MN1 Zornitza Stark Classified gene: MN1 as Green List (high evidence)
Fetal anomalies v0.3381 MN1 Zornitza Stark Gene: mn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3380 MN1 Zornitza Stark changed review comment from: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein.
Sources: Literature; to: Over 20 individuals described with de novo truncating variants in this gene; these cluster in the C-terminal and the authors postulate that that syndrome is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein.

Diaphragmatic hernia, craniosynostosis and brain abnormalities reported.

Sources: Literature
Fetal anomalies v0.3380 MITF Zornitza Stark Marked gene: MITF as ready
Fetal anomalies v0.3380 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Fetal anomalies v0.3380 XPC Ain Roesley reviewed gene: XPC: Rating: RED; Mode of pathogenicity: None; Publications: 10447254; Phenotypes: Xeroderma pigmentosum, group C, MIM# 278720, MONDO:0010211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3380 MITF Zornitza Stark Phenotypes for gene: MITF were changed from 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 to COMMAD syndrome, MIM# 617306
Fetal anomalies v0.3379 MITF Zornitza Stark Publications for gene: MITF were set to 27889061
Fetal anomalies v0.3378 MITF Zornitza Stark Classified gene: MITF as Green List (high evidence)
Fetal anomalies v0.3378 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Fetal anomalies v0.3377 WDR45 Ain Roesley edited their review of gene: WDR45: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.3377 WDR45 Ain Roesley reviewed gene: WDR45: Rating: RED; Mode of pathogenicity: None; Publications: 30842224, 23176820; Phenotypes: Neurodegeneration with brain iron accumulation 5, MIM# 300894, Rett syndrome, Rett-like phenotypes; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.3377 MIR17HG Zornitza Stark Marked gene: MIR17HG as ready
Fetal anomalies v0.3377 MIR17HG Zornitza Stark Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3377 MIR17HG Zornitza Stark Phenotypes for gene: MIR17HG were changed from FEINGOLD SYNDROME to Feingold syndrome 2, MIM #614326
Fetal anomalies v0.3376 MIR17HG Zornitza Stark Publications for gene: MIR17HG were set to
Fetal anomalies v0.3375 MIR17HG Zornitza Stark Mode of inheritance for gene: MIR17HG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3374 MIR17HG Zornitza Stark Tag SV/CNV tag was added to gene: MIR17HG.
Fetal anomalies v0.3374 MANBA Zornitza Stark Marked gene: MANBA as ready
Fetal anomalies v0.3374 MANBA Zornitza Stark Gene: manba has been classified as Red List (Low Evidence).
Fetal anomalies v0.3374 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from LYSOSOMAL BETA-MANNOSIDOSIS to Mannosidosis, beta, MIM# 248510; MONDO:0009562
Fetal anomalies v0.3373 MANBA Zornitza Stark Classified gene: MANBA as Red List (low evidence)
Fetal anomalies v0.3373 MANBA Zornitza Stark Gene: manba has been classified as Red List (Low Evidence).
Fetal anomalies v0.3372 MANBA Zornitza Stark changed review comment from: Variable severity. Well established gene-disease association.; to: Well established gene-disease association but clinical presentation is typically post-natal.
Fetal anomalies v0.3372 MANBA Zornitza Stark edited their review of gene: MANBA: Changed rating: RED
Fetal anomalies v0.3372 SPTBN5 Daniel Flanagan reviewed gene: SPTBN5: Rating: RED; Mode of pathogenicity: None; Publications: 32732226, 28007035; Phenotypes: Sacral agenesis, congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3372 SMARCAL1 Daniel Flanagan changed review comment from: Well-established gene-disease association; over 40 patients with biallelic mutations in SMARCAL1; Zebrafish and mouse models that recapitulates phenotype have been reported.

This disorder combines abnormality of the immune and skeletal systems. Primary features include growth retardation (IUGR in 50%), renal failure, cerebral infarcts, skin pigmentation and CID (lymphocytopaenia, recurrent infections and/or T-cell immunodeficiency) beginning in childhood.

GeneReviews: Short stature (99% of individuals) that typically manifests as a short neck and trunk with lumbar lordosis and a protruding abdomen.; to: Well-established gene-disease association; over 40 patients with biallelic mutations in SMARCAL1; Zebrafish and mouse models that recapitulates phenotype have been reported.

This disorder combines abnormality of the immune and skeletal systems. Primary features include growth retardation (IUGR in 50%), renal failure, cerebral infarcts, skin pigmentation and CID (lymphocytopaenia, recurrent infections and/or T-cell immunodeficiency) beginning in childhood.

GeneReviews: Short stature (99% of individuals) that typically manifests as a short neck and trunk with lumbar lordosis and a protruding abdomen. Most affected children have prenatal and postnatal disproportionate growth failure. A few have normal intrauterine growth followed by postnatal growth failure.
Fetal anomalies v0.3372 SPTBN2 Daniel Flanagan reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: None; Publications: 23236289, 23838597, 22781464, 31617442, 31066025; Phenotypes: Spinocerebellar ataxia 5 (MIM#600224), Spinocerebellar ataxia, autosomal recessive 14 (MIM#615386); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3372 SMARCAL1 Daniel Flanagan reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15523612, 20301550, 20301550, 17089404, 20036229; Phenotypes: Schimke immunoosseous dysplasia (MIM#242900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3372 SP110 Daniel Flanagan reviewed gene: SP110: Rating: RED; Mode of pathogenicity: None; Publications: 20301448, 31721003; Phenotypes: Hepatic venoocclusive disease with immunodeficiency (MIM#235550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3372 SLC6A8 Daniel Flanagan reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898126, 16738945, 16086185; Phenotypes: Cerebral creatine deficiency syndrome 1 (MIM#300352); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.3372 SLC52A3 Daniel Flanagan reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: None; Publications: 29053833, 29193829; Phenotypes: Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3372 MAN1B1 Zornitza Stark Marked gene: MAN1B1 as ready
Fetal anomalies v0.3372 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3372 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Rafiq syndrome, MIM# 614202
Fetal anomalies v0.3371 MAN1B1 Zornitza Stark Classified gene: MAN1B1 as Red List (low evidence)
Fetal anomalies v0.3371 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3370 MAN1B1 Zornitza Stark commented on gene: MAN1B1: Clinical presentation is typically post-natal.
Fetal anomalies v0.3370 MAN1B1 Zornitza Stark edited their review of gene: MAN1B1: Changed rating: RED; Changed phenotypes: Rafiq syndrome, MIM# 614202
Fetal anomalies v0.3370 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Fetal anomalies v0.3370 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3370 MACF1 Zornitza Stark Mode of pathogenicity for gene: MACF1 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 v0.3369 MACF1 Zornitza Stark Mode of inheritance for gene: MACF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3368 MACF1 Zornitza Stark Classified gene: MACF1 as Green List (high evidence)
Fetal anomalies v0.3368 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3367 LRRC56 Zornitza Stark Marked gene: LRRC56 as ready
Fetal anomalies v0.3367 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Fetal anomalies v0.3367 LRRC56 Zornitza Stark Classified gene: LRRC56 as Green List (high evidence)
Fetal anomalies v0.3367 LRRC56 Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence).
Fetal anomalies v0.3366 LRBA Zornitza Stark Marked gene: LRBA as ready
Fetal anomalies v0.3366 LRBA Zornitza Stark Gene: lrba has been classified as Red List (Low Evidence).
Fetal anomalies v0.3366 LRBA Zornitza Stark Phenotypes for gene: LRBA were changed from CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Fetal anomalies v0.3365 LRBA Zornitza Stark Classified gene: LRBA as Red List (low evidence)
Fetal anomalies v0.3365 LRBA Zornitza Stark Gene: lrba has been classified as Red List (Low Evidence).
Fetal anomalies v0.3364 LRBA Zornitza Stark reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3364 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Fetal anomalies v0.3364 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3364 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Fetal anomalies v0.3363 LONP1 Zornitza Stark Classified gene: LONP1 as Green List (high evidence)
Fetal anomalies v0.3363 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3362 LONP1 Zornitza Stark changed review comment from: At least three unrelated cases described in the literature, ID is part of the phenotype.; to: At least three unrelated cases described in the literature, multiple congenital anomalies are part of the phenotype.
Fetal anomalies v0.3362 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Fetal anomalies v0.3362 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3362 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Fetal anomalies v0.3361 LIPT2 Zornitza Stark Publications for gene: LIPT2 were set to
Fetal anomalies v0.3360 LIPT2 Zornitza Stark Classified gene: LIPT2 as Red List (low evidence)
Fetal anomalies v0.3360 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3359 LIPT2 Zornitza Stark changed review comment from: Three individuals from two unrelated families; profound ID.
Sources: Expert list; to: Three individuals from two unrelated families; onset is typically post-natal, though brain abnormalities reported in some.
Sources: Expert list
Fetal anomalies v0.3359 LIPT2 Zornitza Stark edited their review of gene: LIPT2: Changed rating: RED
Fetal anomalies v0.3359 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Fetal anomalies v0.3359 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3359 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. to Lipoyltransferase 1 deficiency, MIM#616299
Fetal anomalies v0.3358 LIPT1 Zornitza Stark Publications for gene: LIPT1 were set to
Fetal anomalies v0.3357 LIPT1 Zornitza Stark Classified gene: LIPT1 as Red List (low evidence)
Fetal anomalies v0.3357 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3356 LIPT1 Zornitza Stark changed review comment from: Cognitive development is affected in this metabolic condition.; to: Clinical presentation is typically post-natal.
Fetal anomalies v0.3356 LIPT1 Zornitza Stark edited their review of gene: LIPT1: Changed rating: RED
Fetal anomalies v0.3356 LIAS Zornitza Stark Marked gene: LIAS as ready
Fetal anomalies v0.3356 LIAS Zornitza Stark Gene: lias has been classified as Red List (Low Evidence).
Fetal anomalies v0.3356 LIAS Zornitza Stark Phenotypes for gene: LIAS were changed from Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation to Hyperglycinemia, lactic acidosis, and seizures, MIM#614462
Fetal anomalies v0.3355 LIAS Zornitza Stark Publications for gene: LIAS were set to
Fetal anomalies v0.3354 LIAS Zornitza Stark Classified gene: LIAS as Red List (low evidence)
Fetal anomalies v0.3354 LIAS Zornitza Stark Gene: lias has been classified as Red List (Low Evidence).
Fetal anomalies v0.3353 LIAS Zornitza Stark changed review comment from: At least three families reported, severe ID is part of the phenotype.; to: At least three families reported, clinical presentation is typically post-natal.
Fetal anomalies v0.3353 LIAS Zornitza Stark edited their review of gene: LIAS: Changed rating: RED
Fetal anomalies v0.3353 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Fetal anomalies v0.3353 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3353 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Fetal anomalies v0.3353 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3352 LAMB1 Zornitza Stark Marked gene: LAMB1 as ready
Fetal anomalies v0.3352 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3352 LAMB1 Zornitza Stark Classified gene: LAMB1 as Green List (high evidence)
Fetal anomalies v0.3352 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3351 KPTN Zornitza Stark Marked gene: KPTN as ready
Fetal anomalies v0.3351 KPTN Zornitza Stark Gene: kptn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3351 KPTN Zornitza Stark Phenotypes for gene: KPTN were changed from MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES to Mental retardation, autosomal recessive 41 (MIM#615637)
Fetal anomalies v0.3350 KPTN Zornitza Stark Publications for gene: KPTN were set to
Fetal anomalies v0.3349 KPTN Zornitza Stark changed review comment from: 15 patients (9 from Amish families) reported with macrocephaly and intellectual disability with hom or chet variants in KPTN (PMID: 32808430).; to: 15 patients (9 from Amish families) reported with macrocephaly and intellectual disability with hom or chet variants in KPTN (PMID: 32808430). Age of onset of macrocephaly uncertain.
Fetal anomalies v0.3349 KPTN Zornitza Stark edited their review of gene: KPTN: Changed rating: AMBER
Fetal anomalies v0.3349 KNL1 Zornitza Stark Marked gene: KNL1 as ready
Fetal anomalies v0.3349 KNL1 Zornitza Stark Gene: knl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3349 KNL1 Zornitza Stark Publications for gene: KNL1 were set to 26626498; 26621532; 22983954
Fetal anomalies v0.3348 KNL1 Zornitza Stark Classified gene: KNL1 as Green List (high evidence)
Fetal anomalies v0.3348 KNL1 Zornitza Stark Gene: knl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3347 KMT2B Zornitza Stark Marked gene: KMT2B as ready
Fetal anomalies v0.3347 KMT2B Zornitza Stark Gene: kmt2b has been classified as Red List (Low Evidence).
Fetal anomalies v0.3347 KMT2B Zornitza Stark Phenotypes for gene: KMT2B were changed from Complex early-onset dystonia to Dystonia 28, childhood-onset, MIM#617284
Fetal anomalies v0.3346 KMT2B Zornitza Stark Mode of inheritance for gene: KMT2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3345 KMT2B Zornitza Stark Classified gene: KMT2B as Red List (low evidence)
Fetal anomalies v0.3345 KMT2B Zornitza Stark Gene: kmt2b has been classified as Red List (Low Evidence).
Fetal anomalies v0.3344 KMT2B Zornitza Stark changed review comment from: ID described as part of the phenotype in some patients.; to: Clinical presentation is typically post-natal.
Fetal anomalies v0.3344 KMT2B Zornitza Stark edited their review of gene: KMT2B: Changed rating: RED
Fetal anomalies v0.3344 KLHL7 Zornitza Stark Marked gene: KLHL7 as ready
Fetal anomalies v0.3344 KLHL7 Zornitza Stark Gene: klhl7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3344 KLHL7 Zornitza Stark Publications for gene: KLHL7 were set to
Fetal anomalies v0.3343 KLHL7 Zornitza Stark Classified gene: KLHL7 as Green List (high evidence)
Fetal anomalies v0.3343 KLHL7 Zornitza Stark Gene: klhl7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3342 KLHL7 Zornitza Stark changed review comment from: IUGR and contractures.; to: IUGR and contractures. More than 10 families reported.
Fetal anomalies v0.3342 KLHL7 Zornitza Stark changed review comment from: Overall IUGR rather than microcephaly, head sizes when reported appear to be in the -1-2SD range.; to: IUGR and contractures.
Fetal anomalies v0.3342 KLHL7 Zornitza Stark edited their review of gene: KLHL7: Changed rating: GREEN
Fetal anomalies v0.3342 KIF5C Zornitza Stark Marked gene: KIF5C as ready
Fetal anomalies v0.3342 KIF5C Zornitza Stark Gene: kif5c has been classified as Green List (High Evidence).
Fetal anomalies v0.3342 KIF5C Zornitza Stark Publications for gene: KIF5C were set to
Fetal anomalies v0.3341 KIF5C Zornitza Stark Mode of inheritance for gene: KIF5C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3340 KIF5C Zornitza Stark Classified gene: KIF5C as Green List (high evidence)
Fetal anomalies v0.3340 KIF5C Zornitza Stark Gene: kif5c has been classified as Green List (High Evidence).
Fetal anomalies v0.3339 KIF2A Zornitza Stark Marked gene: KIF2A as ready
Fetal anomalies v0.3339 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Fetal anomalies v0.3339 KIF2A Zornitza Stark Publications for gene: KIF2A were set to
Fetal anomalies v0.3338 KIF2A Zornitza Stark Mode of inheritance for gene: KIF2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3337 KIF2A Zornitza Stark Classified gene: KIF2A as Green List (high evidence)
Fetal anomalies v0.3337 KIF2A Zornitza Stark Gene: kif2a has been classified as Green List (High Evidence).
Fetal anomalies v0.3336 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Fetal anomalies v0.3336 KIF14 Zornitza Stark Gene: kif14 has been classified as Green List (High Evidence).
Fetal anomalies v0.3336 KIF14 Zornitza Stark Publications for gene: KIF14 were set to 29343805; 24128419; 30388224; 28892560
Fetal anomalies v0.3335 KIF14 Zornitza Stark Classified gene: KIF14 as Green List (high evidence)
Fetal anomalies v0.3335 KIF14 Zornitza Stark Gene: kif14 has been classified as Green List (High Evidence).
Fetal anomalies v0.3334 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from cardiac defects; skeletal anomalies to Noonan syndrome 14, MIM# 619745
Fetal anomalies v0.3333 SPRED2 Zornitza Stark reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3333 NEXMIF Zornitza Stark Marked gene: NEXMIF as ready
Fetal anomalies v0.3333 NEXMIF Zornitza Stark Gene: nexmif has been classified as Red List (Low Evidence).
Fetal anomalies v0.3333 NEXMIF Zornitza Stark Phenotypes for gene: NEXMIF were changed from Intellectual disability and epilepsy; KIAA2022 to Mental retardation, X-linked 98 300912
Fetal anomalies v0.3332 NEXMIF Zornitza Stark Publications for gene: NEXMIF were set to
Fetal anomalies v0.3331 NEXMIF Zornitza Stark Classified gene: NEXMIF as Red List (low evidence)
Fetal anomalies v0.3331 NEXMIF Zornitza Stark Gene: nexmif has been classified as Red List (Low Evidence).
Fetal anomalies v0.3330 NEXMIF Zornitza Stark changed review comment from: Females have been described as both asymptomatic carriers or affected. Given only PTCs have been reported, there is no genotype-phenotype correlation. OMIM describes that a phenotype manifests depending on X-inactivation skewing No reported pathogenic missense to date except for the one LP hemizygous in DDD that is maternally inherited (Decipher) Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.; to: Females have been described as both asymptomatic carriers or affected. Given only PTCs have been reported, there is no genotype-phenotype correlation. OMIM describes that a phenotype manifests depending on X-inactivation skewing No reported pathogenic missense to date except for the one LP hemizygous in DDD that is maternally inherited (Decipher) Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.

Typically presents post-natally.
Fetal anomalies v0.3330 NEXMIF Zornitza Stark edited their review of gene: NEXMIF: Changed rating: RED
Fetal anomalies v0.3330 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Fetal anomalies v0.3330 NHP2 Zornitza Stark Gene: nhp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3330 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Høyeraal-Hreidarsson syndrome
Fetal anomalies v0.3329 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Fetal anomalies v0.3328 NHP2 Zornitza Stark Classified gene: NHP2 as Red List (low evidence)
Fetal anomalies v0.3328 NHP2 Zornitza Stark Gene: nhp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3327 NHP2 Zornitza Stark changed review comment from: Three individuals reported altogether, of those two had DD/ID.; to: Three individuals reported altogether, one of whom had the more severe HH phenotype.
Fetal anomalies v0.3327 NHP2 Zornitza Stark edited their review of gene: NHP2: Changed rating: RED
Fetal anomalies v0.3327 NONO Zornitza Stark Marked gene: NONO as ready
Fetal anomalies v0.3327 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Fetal anomalies v0.3327 NONO Zornitza Stark Phenotypes for gene: NONO were changed from Atresia; Ventricular septal defect (VSD); Pulmonary stenosis; Ebstein s anomaly; Left ventricular non-compaction cardiomyopathy (LVNC) to Mental retardation, X-linked, syndromic 34, MIM# 300967; Ventricular septal defect (VSD); Pulmonary stenosis; Ebstein s anomaly; Left ventricular non-compaction cardiomyopathy (LVNC)
Fetal anomalies v0.3326 NONO Zornitza Stark Publications for gene: NONO were set to 32397791; 26571461; 27329731; 27550220
Fetal anomalies v0.3326 NONO Zornitza Stark Publications for gene: NONO were set to 32397791
Fetal anomalies v0.3325 NONO Zornitza Stark Classified gene: NONO as Green List (high evidence)
Fetal anomalies v0.3325 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Fetal anomalies v0.3324 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Fetal anomalies v0.3324 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Fetal anomalies v0.3324 KIAA0753 Zornitza Stark Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV, MONDO:0014932; ?Orofaciodigital syndrome XV, OMIM:617127 to Orofaciodigital syndrome XV, MONDO:0014932; Orofaciodigital syndrome XV, OMIM:617127; Joubert syndrome
Fetal anomalies v0.3323 KIAA0753 Zornitza Stark Publications for gene: KIAA0753 were set to 28220259; 29138412; 26643951
Fetal anomalies v0.3322 KIAA0753 Zornitza Stark Classified gene: KIAA0753 as Green List (high evidence)
Fetal anomalies v0.3322 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Fetal anomalies v0.3321 KIAA0753 Zornitza Stark edited their review of gene: KIAA0753: Changed rating: GREEN
Fetal anomalies v0.3321 KDM1A Zornitza Stark Marked gene: KDM1A as ready
Fetal anomalies v0.3321 KDM1A Zornitza Stark Gene: kdm1a has been classified as Green List (High Evidence).
Fetal anomalies v0.3321 KDM1A Zornitza Stark Phenotypes for gene: KDM1A were changed from Developmental delay and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features 616728
Fetal anomalies v0.3320 KDM1A Zornitza Stark Publications for gene: KDM1A were set to
Fetal anomalies v0.3319 KDM1A Zornitza Stark Mode of inheritance for gene: KDM1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3318 KDM1A Zornitza Stark Classified gene: KDM1A as Green List (high evidence)
Fetal anomalies v0.3318 KDM1A Zornitza Stark Gene: kdm1a has been classified as Green List (High Evidence).
Fetal anomalies v0.3317 KDM1A Zornitza Stark changed review comment from: Three unrelated individuals with de novo missense variants in this gene and a neurodevelopmental phenotype. Note one of the individuals also had a de novo indel in ANKRD11. Some data published subsequently demonstrating functional impact of all three variants.; to: Three unrelated individuals with de novo missense variants in this gene and a neurodevelopmental phenotype. Note one of the individuals also had a de novo indel in ANKRD11. Some data published subsequently demonstrating functional impact of all three variants.

LGA, cleft palate, brain abnormalities reported.
Fetal anomalies v0.3317 KCNQ5 Zornitza Stark Marked gene: KCNQ5 as ready
Fetal anomalies v0.3317 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3317 KCNQ5 Zornitza Stark Phenotypes for gene: KCNQ5 were changed from Intellectual Disability with or without Epileptic Encephalopathy to Mental retardation, autosomal dominant 46, MIM# 617601
Fetal anomalies v0.3316 KCNQ5 Zornitza Stark Publications for gene: KCNQ5 were set to
Fetal anomalies v0.3315 KCNQ5 Zornitza Stark Mode of inheritance for gene: KCNQ5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3314 KCNQ5 Zornitza Stark Classified gene: KCNQ5 as Red List (low evidence)
Fetal anomalies v0.3314 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3313 KCNQ5 Zornitza Stark changed review comment from: Four unrelated individuals reported with de novo missense variants in this gene and a neurodevelopmental disorder, including epileptic encephalopathy in some. Three of the variants demonstrated to be LoF and one GoF. Further individual reported in PMID 30359776 with mild ID and absence epilepsy and an intragenic duplication causing likely LoF.; to: Four unrelated individuals reported with de novo missense variants in this gene and a neurodevelopmental disorder, including epileptic encephalopathy in some. Three of the variants demonstrated to be LoF and one GoF. Further individual reported in PMID 30359776 with mild ID and absence epilepsy and an intragenic duplication causing likely LoF.

Clinical presentation is typically post-natal.
Fetal anomalies v0.3313 KCNQ5 Zornitza Stark edited their review of gene: KCNQ5: Changed rating: RED
Fetal anomalies v0.3313 KCNJ6 Zornitza Stark Marked gene: KCNJ6 as ready
Fetal anomalies v0.3313 KCNJ6 Zornitza Stark Gene: kcnj6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3313 KCNJ6 Zornitza Stark Phenotypes for gene: KCNJ6 were changed from KEPPEN-LUBINSKY SYNDROME to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572
Fetal anomalies v0.3312 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to
Fetal anomalies v0.3311 KCNJ6 Zornitza Stark Mode of inheritance for gene: KCNJ6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3310 KCNJ6 Zornitza Stark Classified gene: KCNJ6 as Red List (low evidence)
Fetal anomalies v0.3310 KCNJ6 Zornitza Stark Gene: kcnj6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3309 KCNJ6 Zornitza Stark changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Four unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Four unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.

Clinical presentation is typically post-natal, with normal growth parameters at birth.
Fetal anomalies v0.3309 KCNJ6 Zornitza Stark edited their review of gene: KCNJ6: Changed rating: RED
Fetal anomalies v0.3309 KCNH1 Zornitza Stark Marked gene: KCNH1 as ready
Fetal anomalies v0.3309 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3309 KCNH1 Zornitza Stark Phenotypes for gene: KCNH1 were changed from TEMPLE BARRAISTER SYNDROME to Zimmermann-Laband syndrome 1, OMIM:135500
Fetal anomalies v0.3308 KCNH1 Zornitza Stark Publications for gene: KCNH1 were set to
Fetal anomalies v0.3307 KCNH1 Zornitza Stark Mode of inheritance for gene: KCNH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3306 KCNH1 Zornitza Stark Classified gene: KCNH1 as Green List (high evidence)
Fetal anomalies v0.3306 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3305 KCNH1 Zornitza Stark reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zimmermann-Laband syndrome 1, OMIM:135500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3305 KCNC3 Zornitza Stark Marked gene: KCNC3 as ready
Fetal anomalies v0.3305 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3305 KCNC3 Zornitza Stark Phenotypes for gene: KCNC3 were changed from SPINOCEREBELLAR ATAXIA TYPE 13 to Spinocerebellar ataxia 13, MIM#605259
Fetal anomalies v0.3304 KCNC3 Zornitza Stark Mode of inheritance for gene: KCNC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3303 KCNC3 Zornitza Stark Classified gene: KCNC3 as Red List (low evidence)
Fetal anomalies v0.3303 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3302 KCNC3 Zornitza Stark changed review comment from: Mild ID reported only in some individuals with this progressive neurological disorder.; to: Progressive neurological disorder, childhood onset.
Fetal anomalies v0.3302 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Fetal anomalies v0.3302 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3302 KATNB1 Zornitza Stark Classified gene: KATNB1 as Green List (high evidence)
Fetal anomalies v0.3302 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3301 JAM3 Zornitza Stark Marked gene: JAM3 as ready
Fetal anomalies v0.3301 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3301 JAM3 Zornitza Stark Phenotypes for gene: JAM3 were changed from HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS to Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Fetal anomalies v0.3300 JAM3 Zornitza Stark Publications for gene: JAM3 were set to
Fetal anomalies v0.3299 JAM3 Zornitza Stark Classified gene: JAM3 as Green List (high evidence)
Fetal anomalies v0.3299 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3298 JAM3 Zornitza Stark changed review comment from: Autosomal recessive disorder with a distinctive phenotype comprising haemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy. Four unrelated families reported.; to: Autosomal recessive disorder with a distinctive phenotype comprising haemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy. Four unrelated families reported.

Perinatal presentation.
Fetal anomalies v0.3298 ITCH Zornitza Stark Marked gene: ITCH as ready
Fetal anomalies v0.3298 ITCH Zornitza Stark Gene: itch has been classified as Red List (Low Evidence).
Fetal anomalies v0.3298 ITCH Zornitza Stark Phenotypes for gene: ITCH were changed from AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385
Fetal anomalies v0.3297 ITCH Zornitza Stark Publications for gene: ITCH were set to
Fetal anomalies v0.3296 ITCH Zornitza Stark Classified gene: ITCH as Red List (low evidence)
Fetal anomalies v0.3296 ITCH Zornitza Stark Gene: itch has been classified as Red List (Low Evidence).
Fetal anomalies v0.3295 ITCH Zornitza Stark changed review comment from: Multiple affected individuals reported from Amish community, however, single variant, founder effect.; to: Multiple affected individuals reported from Amish community, however, single variant, founder effect. Short stature but age of onset uncertain.
Fetal anomalies v0.3295 ITCH Zornitza Stark edited their review of gene: ITCH: Changed rating: RED
Fetal anomalies v0.3295 IRX5 Zornitza Stark Marked gene: IRX5 as ready
Fetal anomalies v0.3295 IRX5 Zornitza Stark Gene: irx5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3295 IRX5 Zornitza Stark Phenotypes for gene: IRX5 were changed from HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY to Hamamy syndrome, MIM# 611174
Fetal anomalies v0.3294 IRX5 Zornitza Stark Publications for gene: IRX5 were set to
Fetal anomalies v0.3293 IRX5 Zornitza Stark changed review comment from: Two families reported with Hamamy syndrome, some functional data. ID was borderline.; to: Two families reported with Hamamy syndrome, some functional data. Multiple congenital anomalies reported: CHD, craniosynostosis, syndactyly.
Fetal anomalies v0.3293 IRX5 Zornitza Stark edited their review of gene: IRX5: Changed rating: AMBER
Fetal anomalies v0.3293 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Fetal anomalies v0.3293 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3293 IFT52 Zornitza Stark Marked gene: IFT52 as ready
Fetal anomalies v0.3293 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Fetal anomalies v0.3293 IFT52 Zornitza Stark Classified gene: IFT52 as Green List (high evidence)
Fetal anomalies v0.3293 IFT52 Zornitza Stark Gene: ift52 has been classified as Green List (High Evidence).
Fetal anomalies v0.3292 ICK Zornitza Stark Marked gene: ICK as ready
Fetal anomalies v0.3292 ICK Zornitza Stark Gene: ick has been classified as Green List (High Evidence).
Fetal anomalies v0.3292 ICK Zornitza Stark Publications for gene: ICK were set to 24853502; 19185282; 27466187; 27069622
Fetal anomalies v0.3291 ICK Zornitza Stark Classified gene: ICK as Green List (high evidence)
Fetal anomalies v0.3291 ICK Zornitza Stark Gene: ick has been classified as Green List (High Evidence).
Fetal anomalies v0.3290 ICK Zornitza Stark changed review comment from: 6 affected individuals from 2 Amish families reported originally (founder effect); another Turkish family reported since. However, renal cysts only reported in the Amish families, emerging ciliopathy gene, renal phenotype remains to be elucidated.
Sources: Expert list; to: Ciliopathy phenotype.

Sources: Expert list
Fetal anomalies v0.3290 ICK Zornitza Stark edited their review of gene: ICK: Changed rating: GREEN; Changed phenotypes: Endocrine-cerebroosteodysplasia, MIM# 612651
Fetal anomalies v0.3290 CTNS Zornitza Stark Marked gene: CTNS as ready
Fetal anomalies v0.3290 CTNS Zornitza Stark Gene: ctns has been classified as Red List (Low Evidence).
Fetal anomalies v0.3290 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from CYSTINOSIS NEPHROPATHIC TYPE; CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE to Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, nephropathic MIM#219800; Cystinosis, ocular nonnephropathic MIM#219750
Fetal anomalies v0.3289 CTNS Zornitza Stark Publications for gene: CTNS were set to
Fetal anomalies v0.3288 CTNS Zornitza Stark reviewed gene: CTNS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3288 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Fetal anomalies v0.3288 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3288 SLC52A2 Zornitza Stark Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2 to Brown-Vialetto-Van Laere syndrome 2 (MIM#614707)
Fetal anomalies v0.3287 SLC52A2 Zornitza Stark Publications for gene: SLC52A2 were set to 22740598; 24253200
Fetal anomalies v0.3286 SLC4A4 Zornitza Stark Marked gene: SLC4A4 as ready
Fetal anomalies v0.3286 SLC4A4 Zornitza Stark Gene: slc4a4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3286 SLC4A4 Zornitza Stark Phenotypes for gene: SLC4A4 were changed from PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES to Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278)
Fetal anomalies v0.3285 SLC39A13 Zornitza Stark Marked gene: SLC39A13 as ready
Fetal anomalies v0.3285 SLC39A13 Zornitza Stark Gene: slc39a13 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3285 SLC39A13 Zornitza Stark Phenotypes for gene: SLC39A13 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA to Ehlers-Danlos syndrome, spondylodysplastic type, 3 (MIM#612350)
Fetal anomalies v0.3284 SLC39A13 Zornitza Stark Publications for gene: SLC39A13 were set to
Fetal anomalies v0.3283 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Fetal anomalies v0.3283 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Fetal anomalies v0.3283 ZBTB24 Zornitza Stark Classified gene: ZBTB24 as Green List (high evidence)
Fetal anomalies v0.3283 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Fetal anomalies v0.3282 SLC25A26 Zornitza Stark Marked gene: SLC25A26 as ready
Fetal anomalies v0.3282 SLC25A26 Zornitza Stark Gene: slc25a26 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3282 SLC25A26 Zornitza Stark Phenotypes for gene: SLC25A26 were changed from INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY to Combined oxidative phosphorylation deficiency 28 (MIM#616794)
Fetal anomalies v0.3281 SLC25A26 Zornitza Stark Publications for gene: SLC25A26 were set to
Fetal anomalies v0.3280 SLC25A26 Zornitza Stark Classified gene: SLC25A26 as Amber List (moderate evidence)
Fetal anomalies v0.3280 SLC25A26 Zornitza Stark Gene: slc25a26 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3279 CTNS Belinda Chong reviewed gene: CTNS: Rating: RED; Mode of pathogenicity: None; Publications: 32564281, 20301574, 9537412, 31068690; Phenotypes: Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, nephropathic MIM#219800, Cystinosis, ocular nonnephropathic MIM#219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3279 SLC52A2 Daniel Flanagan reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: None; Publications: 10797435, 22740598, 22864630; Phenotypes: Brown-Vialetto-Van Laere syndrome 2 (MIM#614707); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3279 SLC4A4 Daniel Flanagan reviewed gene: SLC4A4: Rating: RED; Mode of pathogenicity: None; Publications: 10545938, 11274232; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3279 SLC39A13 Daniel Flanagan reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: None; Publications: 18985159, 18513683, 28306229, 28306225; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 3 (MIM#612350); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3279 ZBTB24 Krithika Murali gene: ZBTB24 was added
gene: ZBTB24 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 32865561; 21596365; 29023266; 32061411; 21906047; 28128455; 23739126; 22786748
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069
Review for gene: ZBTB24 was set to GREEN
Added comment: Well reported association with ICF2 (immunodeficiency-centromeric instability facial anomalies syndrome 2). Patients have immunodeficiency (mainly hypo/agammaglobulinemia in the presence of B cells), recurrent infections (namely respiratory and gastrointestinal) and dysmorphic facies.

Although antenatal features not thoroughly described for published cases, low birth weight has been a reported feature as well as hypertelorism and micrognathia/retrognathia - these have the potential to be detected prenatally.

PMID 32865561 Helfricht et al 2020 - "loss of ZBTB24 in B cells from mice and ICF2 patients affects nonhomologous end-joining (NHEJ) during immunoglobulin class-switch recombination and consequently impairs immunoglobulin production and isotype balance".

PMID 32061411 Banday. et al 2020 - report a patient with this condition and granulomatous hepatitis. Review phenotype of previously reported patients, low birth weight and facial dysmorphism including micrognathia noted in other cases.

PMID 29023266 Conrad et al 2017 - describe a 17 month old boy with recurrent infections, growth failure, facial anomalies (including hyperterlorism/low set ears), and inflammatory bowel disease. No antenatal information.

PMID 28128455 van den Boogaard 2017 - 5 new patients described

PMID 23739126 Nitta et al 2013 - report 3 unrelated patients, x1 patient - lower birth weight and head circumference. At age 5 had macrocephaly, hyperterlorism. Noted to have bilateral hydronephrosis. x1 patient BW 2660g, micrognathia, hyperterlorism.

PMID 21906047 Chouery et al 2012 - 3 siblings from a Lebanese family with novel homozygous LoF variant. Apparently normal pregnancies, at time of diagnostic assessment HC between the 5th and 15th centiles, height below the 5th percentile. Dysmorphic features including high arched palate, small chin, retrognathism and everted lower lips.

PMID 22786748 Cerbone et al 2012 - report an 8 year old M of consanguineous Moroccan ancestry with ID, dysmorphic features, cafe au last macules and a large arachnoid cyst in the right temporal region, causing compression of the temporal lobe and lateral ventricle

PMID 21596365 de Greef et al 2011 - report 4 new unrelated patients, no antenatal information
Sources: Literature
Fetal anomalies v0.3279 SLC25A26 Daniel Flanagan reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28 (MIM#616794); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3279 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Fetal anomalies v0.3279 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3279 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (MIM#607483)
Fetal anomalies v0.3278 SLC19A3 Zornitza Stark Publications for gene: SLC19A3 were set to
Fetal anomalies v0.3277 SIX1 Zornitza Stark Marked gene: SIX1 as ready
Fetal anomalies v0.3277 SIX1 Zornitza Stark Gene: six1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3277 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23 to Deafness, autosomal dominant 23 (MIM# 605192); Branchiootic syndrome 3 (MIM# 608389)
Fetal anomalies v0.3276 SIX1 Zornitza Stark Mode of inheritance for gene: SIX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3275 SIX1 Zornitza Stark reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3275 SIM1 Zornitza Stark Marked gene: SIM1 as ready
Fetal anomalies v0.3275 SIM1 Zornitza Stark Gene: sim1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3275 SIM1 Zornitza Stark Mode of inheritance for gene: SIM1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3274 SIK1 Zornitza Stark Marked gene: SIK1 as ready
Fetal anomalies v0.3274 SIK1 Zornitza Stark Gene: sik1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3274 SIK1 Zornitza Stark Phenotypes for gene: SIK1 were changed from NEONATAL EPILEPSY SPECTRUM to Developmental and epileptic encephalopathy 30 (MIM#616341)
Fetal anomalies v0.3273 SIK1 Zornitza Stark Publications for gene: SIK1 were set to
Fetal anomalies v0.3272 SIK1 Zornitza Stark Mode of inheritance for gene: SIK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3271 SDHA Zornitza Stark Marked gene: SDHA as ready
Fetal anomalies v0.3271 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3271 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from LEIGH SYNDROME to Cardiomyopathy, dilated, 1GG (MIM#613642); Mitochondrial complex II deficiency, nuclear type 1 (MIM#252011)
Fetal anomalies v0.3270 SDHA Zornitza Stark Publications for gene: SDHA were set to
Fetal anomalies v0.3269 SDHA Zornitza Stark Classified gene: SDHA as Amber List (moderate evidence)
Fetal anomalies v0.3269 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3268 HMX1 Zornitza Stark Marked gene: HMX1 as ready
Fetal anomalies v0.3268 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3268 HMX1 Zornitza Stark Phenotypes for gene: HMX1 were changed from OCULOAURICULAR SYNDROME to Oculoauricular syndrome, MIM#612109
Fetal anomalies v0.3267 HMX1 Zornitza Stark Classified gene: HMX1 as Green List (high evidence)
Fetal anomalies v0.3267 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3266 HIST1H4C Zornitza Stark Marked gene: HIST1H4C as ready
Fetal anomalies v0.3266 HIST1H4C Zornitza Stark Gene: hist1h4c has been classified as Green List (High Evidence).
Fetal anomalies v0.3266 HIST1H4C Zornitza Stark Phenotypes for gene: HIST1H4C were changed from HIST1H4C to Growth delay, microcephaly and intellectual disability
Fetal anomalies v0.3265 HIST1H4C Zornitza Stark Publications for gene: HIST1H4C were set to
Fetal anomalies v0.3264 HIST1H4C Zornitza Stark Mode of inheritance for gene: HIST1H4C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3263 HIST1H4C Zornitza Stark Classified gene: HIST1H4C as Green List (high evidence)
Fetal anomalies v0.3263 HIST1H4C Zornitza Stark Gene: hist1h4c has been classified as Green List (High Evidence).
Fetal anomalies v0.3262 SLC19A3 Daniel Flanagan reviewed gene: SLC19A3: Rating: RED; Mode of pathogenicity: None; Publications: 23423671, 24878502, 19387023, 20065143; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (MIM#607483); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3262 HIST1H1E Zornitza Stark Marked gene: HIST1H1E as ready
Fetal anomalies v0.3262 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Fetal anomalies v0.3262 HIST1H1E Zornitza Stark Publications for gene: HIST1H1E were set to
Fetal anomalies v0.3261 HIST1H1E Zornitza Stark Mode of inheritance for gene: HIST1H1E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3260 HIST1H1E Zornitza Stark Classified gene: HIST1H1E as Green List (high evidence)
Fetal anomalies v0.3260 HIST1H1E Zornitza Stark Gene: hist1h1e has been classified as Green List (High Evidence).
Fetal anomalies v0.3259 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Fetal anomalies v0.3259 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Red List (Low Evidence).
Fetal anomalies v0.3259 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from MUCOPOLYSACCHARIDOSIS TYPE 3C to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657
Fetal anomalies v0.3258 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Fetal anomalies v0.3257 HGSNAT Zornitza Stark Classified gene: HGSNAT as Red List (low evidence)
Fetal anomalies v0.3257 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Red List (Low Evidence).
Fetal anomalies v0.3256 HGSNAT Zornitza Stark edited their review of gene: HGSNAT: Changed rating: RED
Fetal anomalies v0.3256 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Fetal anomalies v0.3256 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3256 HESX1 Zornitza Stark Publications for gene: HESX1 were set to
Fetal anomalies v0.3255 HESX1 Zornitza Stark Classified gene: HESX1 as Green List (high evidence)
Fetal anomalies v0.3255 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3254 HESX1 Zornitza Stark changed review comment from: Variants in this gene are associated with a spectrum of abnormalities: isolated pituitary deficiency through to septo-optic dysplasia. Optic nerve hypoplasia reported as part of this rather than AMC.; to: Variants in this gene are associated with a spectrum of abnormalities including corpus callosum abnormalities and hand abnormalities.
Fetal anomalies v0.3254 HESX1 Zornitza Stark edited their review of gene: HESX1: Changed rating: GREEN; Changed phenotypes: Septooptic dysplasia, MIM# 182230, Pituitary hormone deficiency, combined, 5, MIM# 182230
Fetal anomalies v0.3254 SIX1 Daniel Flanagan reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 23 (MIM# 605192), Branchiootic syndrome 3 (MIM# 608389); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3254 SIM1 Daniel Flanagan reviewed gene: SIM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3254 HADHB Zornitza Stark Marked gene: HADHB as ready
Fetal anomalies v0.3254 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Fetal anomalies v0.3254 HADHB Zornitza Stark Classified gene: HADHB as Green List (high evidence)
Fetal anomalies v0.3254 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Fetal anomalies v0.3253 HADHB Zornitza Stark changed review comment from: ID is part of the phenotype.; to: SGA and cardiomyopathy reported.
Fetal anomalies v0.3253 GTF2E2 Zornitza Stark Marked gene: GTF2E2 as ready
Fetal anomalies v0.3253 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3253 GTF2E2 Zornitza Stark Phenotypes for gene: GTF2E2 were changed from DNA Repair-Proficient Trichothiodystrophy to Trichothiodystrophy 6, nonphotosensitive, MIM #616943
Fetal anomalies v0.3252 GTF2E2 Zornitza Stark Publications for gene: GTF2E2 were set to
Fetal anomalies v0.3251 GTF2E2 Zornitza Stark Classified gene: GTF2E2 as Red List (low evidence)
Fetal anomalies v0.3251 GTF2E2 Zornitza Stark Gene: gtf2e2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3250 GTF2E2 Zornitza Stark commented on gene: GTF2E2: Microcephaly reported but onset uncertain. Craniosynostosis in one individual.
Fetal anomalies v0.3250 GTF2E2 Zornitza Stark edited their review of gene: GTF2E2: Changed rating: RED
Fetal anomalies v0.3250 SIK1 Daniel Flanagan reviewed gene: SIK1: Rating: RED; Mode of pathogenicity: None; Publications: 25839329; Phenotypes: Developmental and epileptic encephalopathy 30 (MIM#616341); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3250 GSPT2 Zornitza Stark Marked gene: GSPT2 as ready
Fetal anomalies v0.3250 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3250 GSPT2 Zornitza Stark Phenotypes for gene: GSPT2 were changed from XL INTELLECTUAL DISABILITY to XL intellectual disability
Fetal anomalies v0.3249 GSPT2 Zornitza Stark Publications for gene: GSPT2 were set to
Fetal anomalies v0.3248 GSPT2 Zornitza Stark Classified gene: GSPT2 as Red List (low evidence)
Fetal anomalies v0.3248 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3247 SDHA Daniel Flanagan reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 20551992, 22972948, 12794685; Phenotypes: Cardiomyopathy, dilated, 1GG (MIM#613642), Mitochondrial complex II deficiency, nuclear type 1 (MIM#252011); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3247 GRIN2D Zornitza Stark Marked gene: GRIN2D as ready
Fetal anomalies v0.3247 GRIN2D Zornitza Stark Gene: grin2d has been classified as Red List (Low Evidence).
Fetal anomalies v0.3247 GRIN2D Zornitza Stark Phenotypes for gene: GRIN2D were changed from Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability
Fetal anomalies v0.3246 GRIN2D Zornitza Stark Publications for gene: GRIN2D were set to
Fetal anomalies v0.3245 GRIN2D Zornitza Stark Mode of pathogenicity for gene: GRIN2D was changed from to Other
Fetal anomalies v0.3244 GRIN2D Zornitza Stark Classified gene: GRIN2D as Red List (low evidence)
Fetal anomalies v0.3244 GRIN2D Zornitza Stark Gene: grin2d has been classified as Red List (Low Evidence).
Fetal anomalies v0.3243 GRIN2D Zornitza Stark changed review comment from: Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism.
Sources: Expert list; to: Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism.

Clinical presentation is typically post-natal.

Sources: Expert list
Fetal anomalies v0.3243 GRIN2D Zornitza Stark edited their review of gene: GRIN2D: Changed rating: RED
Fetal anomalies v0.3243 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Fetal anomalies v0.3243 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3243 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME to Ectodermal dysplasia/short stature syndrome MIM#616029
Fetal anomalies v0.3242 GRHL2 Zornitza Stark Publications for gene: GRHL2 were set to
Fetal anomalies v0.3241 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3241 GPAA1 Zornitza Stark Marked gene: GPAA1 as ready
Fetal anomalies v0.3241 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3241 GPAA1 Zornitza Stark Phenotypes for gene: GPAA1 were changed from Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
Fetal anomalies v0.3240 GPAA1 Zornitza Stark Publications for gene: GPAA1 were set to
Fetal anomalies v0.3239 GPAA1 Zornitza Stark Classified gene: GPAA1 as Red List (low evidence)
Fetal anomalies v0.3239 GPAA1 Zornitza Stark Gene: gpaa1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3238 GPAA1 Zornitza Stark changed review comment from: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.; to: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.

Clinical presentation is typically post-natal.
Fetal anomalies v0.3238 GPAA1 Zornitza Stark edited their review of gene: GPAA1: Changed rating: RED
Fetal anomalies v0.3238 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Fetal anomalies v0.3238 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3238 UQCC2 Zornitza Stark Classified gene: UQCC2 as Green List (high evidence)
Fetal anomalies v0.3238 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3237 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Fetal anomalies v0.3237 CPS1 Zornitza Stark Gene: cps1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3237 CPS1 Zornitza Stark Phenotypes for gene: CPS1 were changed from CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY to Carbamoylphosphate synthetase I deficiency MIM#237300
Fetal anomalies v0.3236 CPS1 Zornitza Stark Publications for gene: CPS1 were set to
Fetal anomalies v0.3235 CPS1 Zornitza Stark reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3235 UQCC2 Krithika Murali gene: UQCC2 was added
gene: UQCC2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC2 were set to 24385928; 28804536
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824
Review for gene: UQCC2 was set to GREEN
Added comment: Biallelic variants associated with mitochondrial complex III deficiency. 2 unrelated families and variant-specific functional evidence/segregation information provided.

PMID 24385928 Tucker et al 2013 - report a patient with homozygous splice site UQCC2 variants. Presented with severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction of consanguineous Lebanese ancestry. Supportive functional studies including using patient fibroblasts.

PMID: 28804536 Feichtinger et al 2017 - report a second unrelated patient of consanguineous Turkish ancestry with UQCC2 deficiency, a female infant born at 32 weeks gestation after a a pregnancy complicated by IUGR and oligohydramnios. Followed by a fulminant postnatal course including respiratory distress syndrome, developed epileptic seizures progressing to status epilepticus, profound lactic acidosis with elevated urinary pyruvate and death at day 33 of life. Homozygous missense UQCC2 variants identified leading to a severe reduction of UQCC2 protein in patient's muscle and fibroblast cells.
Sources: Literature
Fetal anomalies v0.3235 CPS1 Belinda Chong reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3235 GNB5 Zornitza Stark Marked gene: GNB5 as ready
Fetal anomalies v0.3235 GNB5 Zornitza Stark Gene: gnb5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3235 GNB5 Zornitza Stark Phenotypes for gene: GNB5 were changed from Sinus Bradycardia and Cognitive Disability to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)
Fetal anomalies v0.3234 GNB5 Zornitza Stark Publications for gene: GNB5 were set to
Fetal anomalies v0.3233 GNB5 Zornitza Stark Classified gene: GNB5 as Red List (low evidence)
Fetal anomalies v0.3233 GNB5 Zornitza Stark Gene: gnb5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3232 GNB5 Zornitza Stark changed review comment from: Multiple affected individuals reported.
Sources: Expert list; to: Presentation is typically post-natal.

Sources: Expert list
Fetal anomalies v0.3232 GNB5 Zornitza Stark edited their review of gene: GNB5: Changed rating: RED
Fetal anomalies v0.3232 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Fetal anomalies v0.3232 GNAQ Zornitza Stark Gene: gnaq has been classified as Red List (Low Evidence).
Fetal anomalies v0.3232 GNAQ Zornitza Stark Phenotypes for gene: GNAQ were changed from Congenital Hemangioma to Sturge-Weber syndrome, somatic, mosaic, MIM#185300
Fetal anomalies v0.3231 GNAQ Zornitza Stark Mode of inheritance for gene: GNAQ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Fetal anomalies v0.3230 GNAQ Zornitza Stark Classified gene: GNAQ as Red List (low evidence)
Fetal anomalies v0.3230 GNAQ Zornitza Stark Gene: gnaq has been classified as Red List (Low Evidence).
Fetal anomalies v0.3229 GNAQ Zornitza Stark changed review comment from: ID can be part of the phenotype; however this condition is due to somatic mosaic gain of function variants so there may be issues with detection depending on tissue used and sequencing depth.; to: This condition is due to somatic mosaic gain of function variants so there may be issues with detection depending on tissue used and sequencing depth.
Fetal anomalies v0.3229 GNAQ Zornitza Stark edited their review of gene: GNAQ: Changed rating: RED
Fetal anomalies v0.3229 GNAI1 Zornitza Stark Marked gene: GNAI1 as ready
Fetal anomalies v0.3229 GNAI1 Zornitza Stark Gene: gnai1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3229 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to GNAI1 syndrome; Developmental delay, seizures, and hypotonia
Fetal anomalies v0.3228 GNAI1 Zornitza Stark Publications for gene: GNAI1 were set to
Fetal anomalies v0.3227 GNAI1 Zornitza Stark Mode of inheritance for gene: GNAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3226 GNAI1 Zornitza Stark Classified gene: GNAI1 as Red List (low evidence)
Fetal anomalies v0.3226 GNAI1 Zornitza Stark Gene: gnai1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3225 GNAI1 Zornitza Stark changed review comment from: 7 de novo missense and 1 PTV variants reported in the DDD paper Table 1.; to: 7 de novo missense and 1 PTV variants reported in the DDD paper Table 1. Typically presents post-natally.
Fetal anomalies v0.3225 GNAI1 Zornitza Stark edited their review of gene: GNAI1: Changed rating: RED
Fetal anomalies v0.3225 GNA14 Zornitza Stark Marked gene: GNA14 as ready
Fetal anomalies v0.3225 GNA14 Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3225 GNA14 Zornitza Stark Classified gene: GNA14 as Red List (low evidence)
Fetal anomalies v0.3225 GNA14 Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3224 GMNN Zornitza Stark Marked gene: GMNN as ready
Fetal anomalies v0.3224 GMNN Zornitza Stark Gene: gmnn has been classified as Green List (High Evidence).
Fetal anomalies v0.3224 GMNN Zornitza Stark Publications for gene: GMNN were set to
Fetal anomalies v0.3223 GMNN Zornitza Stark Mode of inheritance for gene: GMNN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3222 GMNN Zornitza Stark Classified gene: GMNN as Green List (high evidence)
Fetal anomalies v0.3222 GMNN Zornitza Stark Gene: gmnn has been classified as Green List (High Evidence).
Fetal anomalies v0.3221 GMNN Zornitza Stark changed review comment from: Two of the three reported individuals had ID.
Sources: Expert list; to: IUGR is a key feature.

Sources: Expert list
Fetal anomalies v0.3221 GMNN Zornitza Stark edited their review of gene: GMNN: Changed rating: GREEN; Changed phenotypes: Meier-Gorlin syndrome 6, MIM# 616835
Fetal anomalies v0.3221 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
Fetal anomalies v0.3221 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3221 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from NEPHRONOPHTHISIS 7 to Nephronophthisis 7, OMIM#611498; MONDO:0012680
Fetal anomalies v0.3220 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to
Fetal anomalies v0.3219 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
Fetal anomalies v0.3219 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3219 GFPT1 Zornitza Stark Publications for gene: GFPT1 were set to
Fetal anomalies v0.3218 GFPT1 Zornitza Stark Classified gene: GFPT1 as Red List (low evidence)
Fetal anomalies v0.3218 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3217 GFPT1 Zornitza Stark changed review comment from: 15 unrelated families reported with bi-allelic variants and a congenital myasthenic syndrome. Two families with leukoencephalopathy as well as CMS.

The GFPT1 gene encodes an isoform of glutamine:fructose-6-phosphate amidotransferase (GFAT), which catalyzes the transfer of an amino group from glutamine onto fructose-6-phosphate, yielding glucosamine 6-phosphate and glutamate. It is the first and rate-limiting enzyme of the hexosamine biosynthetic pathway. Hexosamine is the obligatory source of essential amino sugars for the synthesis of glycoproteins, glycolipids, and proteoglycans. Muscle samples from several patients showed decreased protein glycosylation, suggesting this is a disorder of glycosylation. However, there is also some data put forward in PMID 30635494 that this may be a mitochondrial condition.; to: 15 unrelated families reported with bi-allelic variants and a congenital myasthenic syndrome. Two families with leukoencephalopathy as well as CMS.

Presentation typically in childhood/adolescence.
Fetal anomalies v0.3217 GFPT1 Zornitza Stark edited their review of gene: GFPT1: Changed rating: RED
Fetal anomalies v0.3217 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Fetal anomalies v0.3217 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3217 GALNT2 Zornitza Stark changed review comment from: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature; to: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.

Microcephaly and poor growth but age of onset of these features is uncertain.

Sources: Literature
Fetal anomalies v0.3217 GALNT2 Zornitza Stark edited their review of gene: GALNT2: Changed phenotypes: Congenital disorder of glycosylation, type IIt, MIM# 618885
Fetal anomalies v0.3217 GALNT2 Zornitza Stark edited their review of gene: GALNT2: Changed rating: AMBER
Fetal anomalies v0.3217 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Fetal anomalies v0.3217 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3217 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3, 607681
Fetal anomalies v0.3216 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Fetal anomalies v0.3215 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3214 GABRG2 Zornitza Stark Classified gene: GABRG2 as Red List (low evidence)
Fetal anomalies v0.3214 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3213 GABRG2 Zornitza Stark changed review comment from: Multiple unrelated families reported, variable severity of both seizures and ID.; to: Multiple unrelated families reported, variable severity of both seizures and ID. Typically presents post-natally.
Fetal anomalies v0.3213 GABRG2 Zornitza Stark edited their review of gene: GABRG2: Changed rating: RED
Fetal anomalies v0.3213 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Fetal anomalies v0.3213 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3213 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from JUVENILE MYOCLONIC EPILEPSY; EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Fetal anomalies v0.3212 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Fetal anomalies v0.3211 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3210 GABRA1 Zornitza Stark Classified gene: GABRA1 as Red List (low evidence)
Fetal anomalies v0.3210 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3209 GABRA1 Zornitza Stark changed review comment from: PMID: 11992121; 1 large family with Juvenile Myoclonic Epilepsy PMID: 21714819; 2 probands with idiopathic generalized epilepsy PMID: 24623842; 4 patients with Dravet syndrome PMID: 30842224; non-MECP2 probands with Rett-like syndromes categorised into 1) typical RTT, 2) atypical RTT, 3) RTT-like phenotype. Total of 1 family with SNV in GABRA1 in Rett-like cohort.; to: PMID: 11992121; 1 large family with Juvenile Myoclonic Epilepsy PMID: 21714819; 2 probands with idiopathic generalized epilepsy PMID: 24623842; 4 patients with Dravet syndrome PMID: 30842224; non-MECP2 probands with Rett-like syndromes categorised into 1) typical RTT, 2) atypical RTT, 3) RTT-like phenotype. Total of 1 family with SNV in GABRA1 in Rett-like cohort.

Typically presents post-natally.
Fetal anomalies v0.3209 GABRA1 Zornitza Stark edited their review of gene: GABRA1: Changed rating: RED
Fetal anomalies v0.3209 FZD5 Zornitza Stark Marked gene: FZD5 as ready
Fetal anomalies v0.3209 FZD5 Zornitza Stark Gene: fzd5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3209 FZD5 Zornitza Stark Publications for gene: FZD5 were set to
Fetal anomalies v0.3208 FZD5 Zornitza Stark Classified gene: FZD5 as Red List (low evidence)
Fetal anomalies v0.3208 FZD5 Zornitza Stark Gene: fzd5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3207 FZD5 Zornitza Stark edited their review of gene: FZD5: Changed rating: RED
Fetal anomalies v0.3207 FZD5 Zornitza Stark changed review comment from: Four unrelated families reported.
Sources: Literature; to: Four unrelated families reported. Coloboma tends to be isolated, which would be difficult to detect antenatally.
Sources: Literature
Fetal anomalies v0.3207 FUT8 Zornitza Stark Marked gene: FUT8 as ready
Fetal anomalies v0.3207 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Fetal anomalies v0.3207 FUT8 Zornitza Stark Publications for gene: FUT8 were set to
Fetal anomalies v0.3206 FUT8 Zornitza Stark Classified gene: FUT8 as Green List (high evidence)
Fetal anomalies v0.3206 FUT8 Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence).
Fetal anomalies v0.3205 FUT8 Zornitza Stark changed review comment from: Three unrelated individuals reported with bi-allelic variants in this gene.
Sources: Expert list; to: Three unrelated individuals reported with bi-allelic variants in this gene. IUGR and congenital anomalies reported.
Sources: Expert list
Fetal anomalies v0.3205 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Fetal anomalies v0.3205 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3205 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from FUCOSIDOSIS to Fucosidosis, MIM# 230000
Fetal anomalies v0.3204 FUCA1 Zornitza Stark Classified gene: FUCA1 as Red List (low evidence)
Fetal anomalies v0.3204 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3203 FRRS1L Zornitza Stark Marked gene: FRRS1L as ready
Fetal anomalies v0.3203 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Red List (Low Evidence).
Fetal anomalies v0.3203 FRRS1L Zornitza Stark Phenotypes for gene: FRRS1L were changed from Epileptic encephalopathy with continuous spike-and-wave during sleep to Epileptic encephalopathy, early infantile, 37, MIM#616981
Fetal anomalies v0.3202 FRRS1L Zornitza Stark Publications for gene: FRRS1L were set to
Fetal anomalies v0.3201 FRRS1L Zornitza Stark Classified gene: FRRS1L as Red List (low evidence)
Fetal anomalies v0.3201 FRRS1L Zornitza Stark Gene: frrs1l has been classified as Red List (Low Evidence).
Fetal anomalies v0.3200 FRRS1L Zornitza Stark changed review comment from: Five unrelated individuals reported.
Sources: Expert list; to: Five unrelated individuals reported. Presentation is typically post-natal.
Sources: Expert list
Fetal anomalies v0.3200 FRRS1L Zornitza Stark edited their review of gene: FRRS1L: Changed rating: RED
Fetal anomalies v0.3200 FRMPD4 Zornitza Stark Marked gene: FRMPD4 as ready
Fetal anomalies v0.3200 FRMPD4 Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence).
Fetal anomalies v0.3200 FRMPD4 Zornitza Stark Phenotypes for gene: FRMPD4 were changed from Intellectual Disability to Intellectual Disability, X-linked 104, MIM#300983
Fetal anomalies v0.3199 FRMPD4 Zornitza Stark Publications for gene: FRMPD4 were set to
Fetal anomalies v0.3198 FRMPD4 Zornitza Stark Classified gene: FRMPD4 as Green List (high evidence)
Fetal anomalies v0.3198 FRMPD4 Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence).
Fetal anomalies v0.3197 FRMPD4 Zornitza Stark changed review comment from: Multiple affected individuals from unrelated families.; to: Multiple affected individuals from unrelated families. Corpus callosum abnormalities, retrognathia reported.
Fetal anomalies v0.3197 FOXP4 Zornitza Stark Marked gene: FOXP4 as ready
Fetal anomalies v0.3197 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3197 FOXP4 Zornitza Stark Mode of inheritance for gene: FOXP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3196 FOXP2 Zornitza Stark Marked gene: FOXP2 as ready
Fetal anomalies v0.3196 FOXP2 Zornitza Stark Gene: foxp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3196 FOXP2 Zornitza Stark Phenotypes for gene: FOXP2 were changed from SPEECH-LANGUAGE DISORDER 1 to Speech-language disorder-1, MIM# 602081
Fetal anomalies v0.3195 FOXP2 Zornitza Stark Publications for gene: FOXP2 were set to
Fetal anomalies v0.3194 FOXP2 Zornitza Stark Mode of inheritance for gene: FOXP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3193 FOXP2 Zornitza Stark Classified gene: FOXP2 as Red List (low evidence)
Fetal anomalies v0.3193 FOXP2 Zornitza Stark Gene: foxp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3192 FOXP2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association but typically presents post-natally.
Fetal anomalies v0.3192 FOXP2 Zornitza Stark edited their review of gene: FOXP2: Changed rating: RED
Fetal anomalies v0.3192 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Fetal anomalies v0.3192 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Fetal anomalies v0.3192 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from 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 to Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986
Fetal anomalies v0.3191 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Fetal anomalies v0.3190 FIG4 Zornitza Stark Classified gene: FIG4 as Green List (high evidence)
Fetal anomalies v0.3190 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Fetal anomalies v0.3189 FANCM Zornitza Stark Marked gene: FANCM as ready
Fetal anomalies v0.3189 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Fetal anomalies v0.3189 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from FANCONI ANEMIA; FANCM-RELATED FANCONI ANEMIA to Fanconi anaemia
Fetal anomalies v0.3188 FANCM Zornitza Stark Classified gene: FANCM as Red List (low evidence)
Fetal anomalies v0.3188 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Fetal anomalies v0.3187 FANCL Zornitza Stark Marked gene: FANCL as ready
Fetal anomalies v0.3187 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Fetal anomalies v0.3187 FANCL Zornitza Stark Publications for gene: FANCL were set to
Fetal anomalies v0.3186 FANCL Zornitza Stark Classified gene: FANCL as Green List (high evidence)
Fetal anomalies v0.3186 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Fetal anomalies v0.3185 SF3B2 Zornitza Stark Marked gene: SF3B2 as ready
Fetal anomalies v0.3185 SF3B2 Zornitza Stark Gene: sf3b2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3185 SF3B2 Zornitza Stark Classified gene: SF3B2 as Green List (high evidence)
Fetal anomalies v0.3185 SF3B2 Zornitza Stark Gene: sf3b2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3184 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Fetal anomalies v0.3184 SEPT9 Zornitza Stark Gene: sept9 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3184 SEPT9 Zornitza Stark Classified gene: SEPT9 as Red List (low evidence)
Fetal anomalies v0.3184 SEPT9 Zornitza Stark Gene: sept9 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3183 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3183 PLCH1 Zornitza Stark Marked gene: PLCH1 as ready
Fetal anomalies v0.3183 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3183 PLCH1 Zornitza Stark Classified gene: PLCH1 as Amber List (moderate evidence)
Fetal anomalies v0.3183 PLCH1 Zornitza Stark Gene: plch1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3182 PLEKHA5 Zornitza Stark Marked gene: PLEKHA5 as ready
Fetal anomalies v0.3182 PLEKHA5 Zornitza Stark Gene: plekha5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3182 PLEKHA5 Zornitza Stark Classified gene: PLEKHA5 as Amber List (moderate evidence)
Fetal anomalies v0.3182 PLEKHA5 Zornitza Stark Gene: plekha5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3181 PLEKHA7 Zornitza Stark Marked gene: PLEKHA7 as ready
Fetal anomalies v0.3181 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3181 PLEKHA7 Zornitza Stark Classified gene: PLEKHA7 as Amber List (moderate evidence)
Fetal anomalies v0.3181 PLEKHA7 Zornitza Stark Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3180 PPP1R13L Zornitza Stark Marked gene: PPP1R13L as ready
Fetal anomalies v0.3180 PPP1R13L Zornitza Stark Gene: ppp1r13l has been classified as Green List (High Evidence).
Fetal anomalies v0.3180 PPP1R13L Zornitza Stark Classified gene: PPP1R13L as Green List (high evidence)
Fetal anomalies v0.3180 PPP1R13L Zornitza Stark Gene: ppp1r13l has been classified as Green List (High Evidence).
Fetal anomalies v0.3179 METTL23 Zornitza Stark Marked gene: METTL23 as ready
Fetal anomalies v0.3179 METTL23 Zornitza Stark Gene: mettl23 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3179 METTL23 Zornitza Stark Classified gene: METTL23 as Red List (low evidence)
Fetal anomalies v0.3179 METTL23 Zornitza Stark Gene: mettl23 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3178 LRRC32 Zornitza Stark Marked gene: LRRC32 as ready
Fetal anomalies v0.3178 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3178 LRRC32 Zornitza Stark Classified gene: LRRC32 as Amber List (moderate evidence)
Fetal anomalies v0.3178 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3177 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Fetal anomalies v0.3177 SCN8A Zornitza Stark Gene: scn8a has been classified as Red List (Low Evidence).
Fetal anomalies v0.3177 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA to Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive; Myoclonus, familial, 2, MIM# 618364; paroxysmal kinesigenic dyskinesias; Cognitive impairment with or without cerebellar ataxia, MIM# 614306
Fetal anomalies v0.3176 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Fetal anomalies v0.3176 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3176 RFWD3 Zornitza Stark Phenotypes for gene: RFWD3 were changed from ?Fanconi anemia, complementation group W, OMIM:617784 to Fanconi anaemia, complementation group W, OMIM:617784
Fetal anomalies v0.3175 RAB39B Zornitza Stark Marked gene: RAB39B as ready
Fetal anomalies v0.3175 RAB39B Zornitza Stark Gene: rab39b has been classified as Red List (Low Evidence).
Fetal anomalies v0.3175 RAB39B Zornitza Stark Phenotypes for gene: RAB39B were changed from MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS to Intellectual developmental disorder, X-linked 72 MIM#300271; Waisman syndrome MIM#311510
Fetal anomalies v0.3174 RAB39B Zornitza Stark Publications for gene: RAB39B were set to 29152164; 20159109
Fetal anomalies v0.3173 LRP6 Zornitza Stark Marked gene: LRP6 as ready
Fetal anomalies v0.3173 LRP6 Zornitza Stark Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3173 LRP6 Zornitza Stark Classified gene: LRP6 as Amber List (moderate evidence)
Fetal anomalies v0.3173 LRP6 Zornitza Stark Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3172 PTCHD1 Zornitza Stark Marked gene: PTCHD1 as ready
Fetal anomalies v0.3172 PTCHD1 Zornitza Stark Gene: ptchd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3172 PTCHD1 Zornitza Stark Phenotypes for gene: PTCHD1 were changed from AUTISM/ID to intellectual disability MIM#300830
Fetal anomalies v0.3171 PTCHD1 Zornitza Stark Publications for gene: PTCHD1 were set to
Fetal anomalies v0.3170 PSMB8 Zornitza Stark Marked gene: PSMB8 as ready
Fetal anomalies v0.3170 PSMB8 Zornitza Stark Gene: psmb8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3170 PSMB8 Zornitza Stark Phenotypes for gene: PSMB8 were changed from NAKAJO SYNDROME to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Fetal anomalies v0.3169 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to
Fetal anomalies v0.3168 PRSS12 Zornitza Stark Marked gene: PRSS12 as ready
Fetal anomalies v0.3168 PRSS12 Zornitza Stark Gene: prss12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3168 PRSS12 Zornitza Stark Phenotypes for gene: PRSS12 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 to Intellectual disability, PRSS12 related MIM#249500
Fetal anomalies v0.3167 PRSS12 Zornitza Stark Publications for gene: PRSS12 were set to
Fetal anomalies v0.3166 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Fetal anomalies v0.3166 PRPS1 Zornitza Stark Gene: prps1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3166 PRPS1 Zornitza Stark Phenotypes for gene: PRPS1 were changed from DEAFNESS X-LINKED TYPE 1; PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5; ARTS SYNDROME to Arts syndrome MIM#301835
Fetal anomalies v0.3165 PRPS1 Zornitza Stark Publications for gene: PRPS1 were set to
Fetal anomalies v0.3164 PRPS1 Zornitza Stark Classified gene: PRPS1 as Amber List (moderate evidence)
Fetal anomalies v0.3164 PRPS1 Zornitza Stark Gene: prps1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3163 PPP3CA Zornitza Stark changed review comment from: The mono-allelic condition is relevant antenatally. However, only 2 individuals reported.

DEE tends to present post-natally.; to: Condition causing multiple congenital anomalies is postulated to be due to GoF variants. However, only 2 individuals reported.

DEE postulated to be due to LoF variants, and presents post-natally.
Fetal anomalies v0.3163 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Fetal anomalies v0.3163 PPT1 Zornitza Stark Gene: ppt1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3163 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744
Fetal anomalies v0.3162 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Fetal anomalies v0.3161 PPA2 Zornitza Stark Marked gene: PPA2 as ready
Fetal anomalies v0.3161 PPA2 Zornitza Stark Gene: ppa2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3161 PPA2 Zornitza Stark Phenotypes for gene: PPA2 were changed from Sudden arrhythmic cardiac death after infectious or alcohol trigger to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222
Fetal anomalies v0.3160 PPA2 Zornitza Stark Publications for gene: PPA2 were set to
Fetal anomalies v0.3159 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Fetal anomalies v0.3159 PLP1 Zornitza Stark Gene: plp1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3159 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 1; SPASTIC PARAPLEGIA X-LINKED TYPE 2 to Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920
Fetal anomalies v0.3158 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Fetal anomalies v0.3157 LDB3 Zornitza Stark Marked gene: LDB3 as ready
Fetal anomalies v0.3157 LDB3 Zornitza Stark Gene: ldb3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3157 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from MYOPATHY MYOFIBRILLAR TYPE 4; LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C to Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Cardiomyopathy, hypertrophic, 24 MIM#601493; Left ventricular noncompaction 3 MIM#601493; Myopathy, myofibrillar, 4 MIM#609452
Fetal anomalies v0.3156 LDB3 Zornitza Stark Publications for gene: LDB3 were set to 17394203
Fetal anomalies v0.3155 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3154 Zornitza Stark removed gene:IL17RD from the panel
Fetal anomalies v0.3153 IGSF1 Zornitza Stark edited their review of gene: IGSF1: Changed rating: RED
Fetal anomalies v0.3153 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Fetal anomalies v0.3153 IGSF1 Zornitza Stark Added comment: Comment when marking as ready: Not LGA, unlikely to present antenatally
Fetal anomalies v0.3153 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3153 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT to Hypothyroidism, central, and testicular enlargement MIM#300888
Fetal anomalies v0.3152 IGSF1 Zornitza Stark Publications for gene: IGSF1 were set to
Fetal anomalies v0.3151 SF3B2 Krithika Murali gene: SF3B2 was added
gene: SF3B2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF3B2 were set to 34344887
Phenotypes for gene: SF3B2 were set to Craniofacial microsomia
Review for gene: SF3B2 was set to GREEN
Added comment: No new relevant published evidence since PanelApp review Aug 2021

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Twenty individuals from seven families reported with de novo or transmitted haploinsufficient variants in SF3B2. Affected individuals had mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities.

Targeted morpholino knockdown of SF3B2 in Xenopus resulted in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease.

The families were ascertained from a cohort and the authors suggest that haploinsufficient variants in SF3B2 are the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases.
Sources: Literature
Fetal anomalies v0.3151 SEPT9 Krithika Murali gene: SEPT9 was added
gene: SEPT9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEPT9 were set to 16186812; 19451530; 19939853; 19139049; 18492087
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, MIM# 162100
Review for gene: SEPT9 was set to AMBER
Added comment: No new relevant published evidence since last PanelApp review May 2021

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Only one report identified from 2008 of dysmorphic features including cleft palate co-occurring with HNA.

New gene name is SEPTIN9, also note founder variants as well as 5'UTR variants and intragenic duplications reported.
Sources: Literature
Fetal anomalies v0.3151 PLCH1 Krithika Murali gene: PLCH1 was added
gene: PLCH1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations
Review for gene: PLCH1 was set to AMBER
Added comment: No new published evidence since last PanelApp review April 2021

--
PMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome.
Sources: Literature
Fetal anomalies v0.3151 PLEKHA5 Krithika Murali gene: PLEKHA5 was added
gene: PLEKHA5 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLEKHA5 were set to 29805042
Phenotypes for gene: PLEKHA5 were set to cleft lip; cleft palate
Review for gene: PLEKHA5 was set to AMBER
Added comment: No new published evidence since last PanelApp review April 2020

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One de novo variant reported, another 5 '3C' rare variants reported in 6 families in this cohort; unclear if monogenic or polygenic contribution to CL/P.
Sources: Literature, Expert list
Fetal anomalies v0.3151 PLEKHA7 Krithika Murali gene: PLEKHA7 was added
gene: PLEKHA7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLEKHA7 were set to 29805042
Phenotypes for gene: PLEKHA7 were set to Cleft palate
Review for gene: PLEKHA7 was set to AMBER
Added comment: No new evidence since last PanelApp review in Jan 2021

--

Six rare variants identified in 4 individuals in a CL/P cohort, however, only one of these classified as likely pathogenic. One individual had bi-allelic variants. Some supportive functional data
Sources: Literature
Fetal anomalies v0.3151 PPP1R13L Krithika Murali gene: PPP1R13L was added
gene: PPP1R13L was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 32666529; 28864777
Phenotypes for gene: PPP1R13L were set to Dilated cardiomyopathy, onset in infancy; Cleft lip and palate
Review for gene: PPP1R13L was set to GREEN
Added comment: No new information since last PanelApp review June 2021

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At least 6 unrelated families. NMD-predicted, missense and stop-loss (extension) variants have been reported in individuals with autosomal recessive PPP1R13L-related syndrome. Patients described with biallelic pathogenic variants in PPP1R13L all had severe infantile-onset dilated cardiomyopathy, with additional features including cleft lip and palate, wedge-shaped teeth, and sparse, dry, woolly hair described in several individuals. Death due to HF progression before 5yo reported in cases that didn't receive a heart transplant. Cognitive delay also reported in two unrelated individuals (PMID: 28069640, PMID: 32666529).
Sources: Literature
Fetal anomalies v0.3151 METTL23 Krithika Murali gene: METTL23 was added
gene: METTL23 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL23 were set to 32878022; 32439618; 32067349; 24626631; 24501276
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44 - #615942
Review for gene: METTL23 was set to RED
Added comment: Biallelic variants associated with syndromic ID. Published studies provide no or limited antenatal information with no consistent prenatal phenotype described.

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PMID: 32878022 – Khan et al 2020 - homozygous missense variants identified in consanguineous Pakistani family with 3 affected siblings having ID, epilepsy, behavioural issues, hypotonia and dysmorphic features (prominent large-size eyes, eyebrows, ears, short upturned nose with flat nasal bridge, and thin upper lip). Authors report that prenatal, perinatal and neonatal medical records of all patients were normal.

PMID 32439618 – Smaili et al 2020 report two Moroccan siblings presenting with mild intellectual disability and dysmorphic features. WES identified homozygous METTL23 gene variants. Describe uneventful pregnancies and postnatal course. Macrocephaly reported in both siblings (HC 52cm in a 7 year old M and 50cm in 6 yo F) - no information regarding HC of parents provided, macrocephaly not a consistently reported feature of this condition.

PMID: 32067349 – Almannai et al 2020 - 6 individuals from 4 families - 2 families unrelated, 2 families come from same Saudi tribe and are therefore likely to be distantly related with same homozygous METTL23 variant identified in both. No prenatal features or immediate postnatal issues described related to this condtion. One subject reported to have an MRI-B showing mild ventriculomegaly at a later age which may reflect mild white matter volume loss. This subject also had a 618 Kilobases duplication at 7p11.2 (57,261,112-57,878,853) identified on CGH array.

PMID: 24626631 – Bernkopf 2014 - describe 2 unrelated families. Provide no antenatal information or report no issues antenatally/at birth apart from one baby being large and cyanosed postnatally

PMID: 24501276 – Reiff et al 2014 - report 7 affected members of a large, consanguineous Arab family with ID and mild dysmorphic features. X1 patient had cleft uvula and submucosal cleft palate.
Sources: Literature
Fetal anomalies v0.3151 LRRC32 Krithika Murali gene: LRRC32 was added
gene: LRRC32 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to 30976112
Phenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074
Review for gene: LRRC32 was set to AMBER
Added comment: Gene previously reviewed for PanelApp Feb 2021 - no new relevant publications since

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Three individuals from two consanguineous families with cleft palate, proliferative retinopathy, and developmental delay had the same homozygous biallelic variant, c.1630C>T; p.(Arg544Ter), segregated and shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Fetal anomalies v0.3151 SCN8A Ain Roesley reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive, Myoclonus, familial, 2, MIM# 618364, paroxysmal kinesigenic dyskinesias, Cognitive impairment with or without cerebellar ataxia, MIM# 614306; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.3151 RFWD3 Ain Roesley reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: 28691929; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 RAB39B Ain Roesley reviewed gene: RAB39B: Rating: RED; Mode of pathogenicity: None; Publications: 34761259, 20159109, 25434005, 27066548, 26399558, 27943471, 28851564, 28851564, 29152164, 33880059, 27448726, 32670181; Phenotypes: Intellectual developmental disorder, X-linked 72 MIM#300271, Waisman syndrome MIM#311510; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3151 LRP6 Krithika Murali gene: LRP6 was added
gene: LRP6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP6 were set to 16126904; 30950205; 26387593; 26963285; 28813618; 29500247; 33164649; 34306029
Phenotypes for gene: LRP6 were set to Tooth agenesis, selective, 7 - MIM#616724; cleft lip/palate
Review for gene: LRP6 was set to AMBER
Added comment: LoF variants known to be associated with tooth agenesis. In addition, x2 unrelated families from 2 different studies with heterozygous LRP6 variant had tooth agenesis and cleft lip/palate (PMID 29500247; 26963285). Growth failure reported in some individuals but unclear if prenatal in onset (PMID 26963285). Minor finger/ear anomalies reported in x2 patients (PMID 26387593; 30950205)- unlikely to be detected antenatally and one of the reported patients (30950205) had x2 chromosome deletions, one of which involved LRP6 and multiple other genes.

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PMID: 34306029 Huang et al 2021 - Heterozygous LRP6: c.2570G > A (p.R857H), harbored by six members of a Chinese family, including 4 with tooth agenesis. Sparse hair another phenotypic feature.

PMID: 33164649 Yu et al 2021 - identified 4 novel LRP6 heterozygous mutations in 4 of 77 oligodontia patients. One patient with a nonsense paternally inherited variant had a hypohidrotic ectodermal dysplasia phenotype - no antenatal features, father had oligodontia. Supportive functional evidence

PMID: 29500247 Basha et al 2018 - Nonsense LRP6 variant identified in a family with cleft lip/palate. Proband had bilateral cleft lip and palate with missing upper lateral incisors, mother had bilateral cleft lip. x1 unaffected brother but family members not reassessed for oligodontia after variant identified.

PMID: 28813618 Dinckan et al 2018 - heterozygous splice site LRP6 variant identified in 1 family with isolated tooth agenesis. Affected family members also had mild periocular hyperpigmentation and hypoplastic alae nasi - thought to be unrelated to phenotype

PMID: 26963285 Ockeloen et al 2016 - frameshift variant identified in patient with tooth agenesis and orofacial clefting - boy born with bilateral cleft lip, L) sided cleft of the alveolus and complete cleft of the hard and soft palate. Also noted to have growth retardation, hypermetropia and small median alveolar manibular cleft. Maternal relatives with variant had severe tooth agenesis but no clefting. Canonical splice site variant identified in a patient with isolated severe tooth agenesis. Targeted resequencing showed statistically significant enrichment of unique LRP6 variants in tooth agenesis patients (7/67 versus 13/706 controls), not orofacial clefting cohort. 4/7 of these patients required growth hormone therapy and 3/7 had clinodactyly in addition to dental anomalies.

PMID: 26387593 – Massink et al 2015 - x4 LoF heterozygous LRP6 variants identified in 4 unrelated families with isolated severe tooth agenesis. All affected members of one family showed minor anatomical variation of the ear and underdevelopment of the thumb

PMID: 30950205 Ross et al 2019 - Proband with oligodontia and thrombocytopenia, also had mild finger and ear anomalies. Array revealed an interstitial loss of 150 kb in 8p23.1 encompassing MCPH1 and ANGPT2 and an interstitial loss of 290 kb in 12p13.2 encompassing ETV6, BCL2L14 and LRP6.
Sources: Literature
Fetal anomalies v0.3151 PTCHD1 Ain Roesley reviewed gene: PTCHD1: Rating: RED; Mode of pathogenicity: None; Publications: 33856728, 25131214; Phenotypes: intellectual disability MIM#300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3151 PSMB8 Ain Roesley reviewed gene: PSMB8: Rating: RED; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 PRSS12 Ain Roesley reviewed gene: PRSS12: Rating: RED; Mode of pathogenicity: None; Publications: 12459588, 22090715, 23344636; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 PRPS1 Ain Roesley reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32781272, 24961627; Phenotypes: Arts syndrome MIM#301835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3151 PPT1 Ain Roesley reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 PPA2 Ain Roesley reviewed gene: PPA2: Rating: RED; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, alcohol-induced, 617223, Sudden cardiac failure, infantile, 617222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 PLP1 Ain Roesley reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: None; Publications: 20301361; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Spastic paraplegia 2, X-linked MIM#312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.3151 LDB3 Ain Roesley reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268, 27546599, 25911362; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493, Cardiomyopathy, hypertrophic, 24 MIM#601493, Left ventricular noncompaction 3 MIM#601493, Myopathy, myofibrillar, 4 MIM#609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3151 IL17RD Ain Roesley reviewed gene: IL17RD: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3151 IGSF1 Ain Roesley reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26840047; Phenotypes: Hypothyroidism, central, and testicular enlargement MIM#300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.3151 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Fetal anomalies v0.3151 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Fetal anomalies v0.3151 KAT5 Zornitza Stark Classified gene: KAT5 as Green List (high evidence)
Fetal anomalies v0.3151 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Fetal anomalies v0.3150 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Fetal anomalies v0.3150 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3150 INTS1 Zornitza Stark Classified gene: INTS1 as Green List (high evidence)
Fetal anomalies v0.3150 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3149 COL25A1 Zornitza Stark Marked gene: COL25A1 as ready
Fetal anomalies v0.3149 COL25A1 Zornitza Stark Gene: col25a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3149 COL25A1 Zornitza Stark Classified gene: COL25A1 as Green List (high evidence)
Fetal anomalies v0.3149 COL25A1 Zornitza Stark Gene: col25a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3148 COL25A1 Zornitza Stark gene: COL25A1 was added
gene: COL25A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL25A1 were set to 35077597; 26437029
Phenotypes for gene: COL25A1 were set to Arthrogryposis multiplex congenita MONDO:0015168
Review for gene: COL25A1 was set to GREEN
Added comment: 6 cases from 4 unrelated families with AMC as a feature of the phenotype PMID: 35077597 - 5 patients from 3 unrelated families with biallelic missense and splice site COL25A1 variants presenting with arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder phenotype PMID: 26437029 - Patient: 273182 in DECIPHER with compound het missense variants. Phenotype includes Congenital finger flexion contractures, Contracture of the distal interphalangeal joint of the 2nd finger, Duane anomaly
Sources: Literature
Fetal anomalies v0.3147 HYAL2 Zornitza Stark Marked gene: HYAL2 as ready
Fetal anomalies v0.3147 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3147 HYAL2 Zornitza Stark Classified gene: HYAL2 as Green List (high evidence)
Fetal anomalies v0.3147 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3146 HOXA2 Zornitza Stark Marked gene: HOXA2 as ready
Fetal anomalies v0.3146 HOXA2 Zornitza Stark Gene: hoxa2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3146 HOXA2 Zornitza Stark Classified gene: HOXA2 as Green List (high evidence)
Fetal anomalies v0.3146 HOXA2 Zornitza Stark Gene: hoxa2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3145 ESRP2 Zornitza Stark Marked gene: ESRP2 as ready
Fetal anomalies v0.3145 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3145 ESRP2 Zornitza Stark Classified gene: ESRP2 as Amber List (moderate evidence)
Fetal anomalies v0.3145 ESRP2 Zornitza Stark Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3144 EIF3F Zornitza Stark Marked gene: EIF3F as ready
Fetal anomalies v0.3144 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Fetal anomalies v0.3144 EIF3F Zornitza Stark Phenotypes for gene: EIF3F were changed from ntellectual developmental disorder, autosomal recessive 67- MIM#618295 to Intellectual developmental disorder, autosomal recessive 67- MIM#618295
Fetal anomalies v0.3143 EIF3F Zornitza Stark Classified gene: EIF3F as Green List (high evidence)
Fetal anomalies v0.3143 EIF3F Zornitza Stark Gene: eif3f has been classified as Green List (High Evidence).
Fetal anomalies v0.3142 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Fetal anomalies v0.3142 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3142 COL9A3 Zornitza Stark Classified gene: COL9A3 as Green List (high evidence)
Fetal anomalies v0.3142 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3141 FTO Zornitza Stark Marked gene: FTO as ready
Fetal anomalies v0.3141 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3141 FTO Zornitza Stark Marked gene: FTO as ready
Fetal anomalies v0.3141 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3141 FTO Zornitza Stark Classified gene: FTO as Amber List (moderate evidence)
Fetal anomalies v0.3141 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3140 KAT5 Krithika Murali gene: KAT5 was added
gene: KAT5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT5 were set to 32822602
Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities- MIM#619103
Review for gene: KAT5 was set to GREEN
Added comment: PMID: 32822602 Humbert et al 2020 - single study reporting 3 individuals with syndromic ID and de novo heterozygous missense variants in KAT5, supportive functional data

Individual 1 – diagnosed as an adult, syndromic ID, brachydactyly, partial agenesis of the corpus callosum

Indidual 2 – 13 yo M with ID and multiple malformations – born at 38 weeks with a unilateral CL/P, horshoe kidney, progressive cerebellar atrophy, dysgenesis of the corpus callosum

Individual 3 – presented with congenital microcephay, short stature, VSD, dysplastic pulmonary valve with supravalvular and valvular stenosis, submucous cleft, hypospadias, MRI B PMG R) sylvian fissure, cystic dilation of 4th ventricle and inferior cerebellar vermis atrophy
Sources: Literature
Fetal anomalies v0.3140 INTS1 Krithika Murali gene: INTS1 was added
gene: INTS1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 30622326; 31428919
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies - MIM#618571
Review for gene: INTS1 was set to GREEN
Added comment: PMID: 28542170 Oegema et al 2017 - 3 unrelated individuals with syndromic ID of Dutch ancestry showed the same homozygous truncating INTS1 mutation - 1/3 Cleft palate/lip, 1/3 renal malformation

PMID: 30622326 – Krall et al 2019 - 5 patients from 4 families with biallelic sequence variants in INTS1. The patients manifested absent or severely limited speech, an abnormal gait, hypotonia and cataracts. Other phenotypic features included:
o Micropthalmia – 2/5
o Frontal bossing 2/5
o Hypertelorism – 5/5
o Microretrognathia – 4/5
o Renal malformation 2/5


PMID: 31428919 – Zhang et al 2020 - 2 Chinese siblings with ID found to have INTST1 compound het variants, both had cataracts, facial dysmorphism, short stature, severe ID and anomalous genitalia
Sources: Literature
Fetal anomalies v0.3140 HYAL2 Krithika Murali gene: HYAL2 was added
gene: HYAL2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 34906488; 28081210; 23172227; 26515055
Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations
Review for gene: HYAL2 was set to GREEN
Added comment: PMID 28081210 Muggenthaler et al 2017 - 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies

PMID 34906488 Fasham et al 2021 - report 10 additional individuals from 6 unrelated families (Amish x2 - same founder variant as in previous study, Romanian, Italian, Northern European ancestry)

Combined reported phenotypic features of 17 individuals from both studies most relevant in the prenatal setting include:
• Hyperterlorism 13/16
• External ear anomalies – 11/14
• Cleft lip/palate – 10/17
• Micrognathia – 9/14
• Cardiac anomalies 12/17
Sources: Literature
Fetal anomalies v0.3140 HOXA2 Krithika Murali gene: HOXA2 was added
gene: HOXA2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HOXA2 were set to 18394579; 23775976; 27503514; 28109504; 31567444; 32649979
Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD) - MIM#612290
Review for gene: HOXA2 was set to GREEN
Added comment: Heterozygous variants associated with non-syndromic microtia and hearing loss reported in over 5 families

Homozygous variant associated with severe microtia, hearing loss and partial cleft palate reported in 3 affected individuals in 1 family.

Supportive mouse models

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PMID: 18394579 Alasti et al 2008 - first identified 3 affected individuals from one consanguineous Persian family also had partial cleft palate with homozygous HOXA2 variant. Only family with AR inheritance reported so far.

PMID: 23775976 Brown et al 2013 – multiple affected individuals from one family with non-syndromic bilateral microtia and hearing loss segregating as an autosomal dominant trait. Exome sequencing identified heterozygous protein truncating HOXA2 nonsense change (c.703C>T, p.Q235*).

PMID: 27503514 Piceci et al 2017 – reported one family with isolated bilateral microtia segregating as an autosomal dominant trait. Heterozygous protein truncating nonsense variant identified [c.670G>T, p.(Glu224*)] segregating in all affected individuals

PMID: 28109504 Hao et al 2017 - 2 novel variants in the 5’ UTR of HOXA2 identified in a screen of patients with microtia, limited phenotypic information

PMID: 31567444 Meddaugh et al 2020 - reported heterozygous variant in 4-year-old Caucasian male with bilateral dysplastic ears and conductive hearing loss.

PMID: 32649979 Si et al 2020 – reported two Chinese families with non-syndromic bilateral microtia identifying two separate heterozygous nonsense HOXA2 variants
Sources: Literature
Fetal anomalies v0.3140 FTO Krithika Murali gene: FTO was added
gene: FTO was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTO were set to 19559399; 26378117
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism - MIM#612938; multiple congenital malformations
Review for gene: FTO was set to AMBER
Added comment: Biallelic variants associated with syndromic ID reported in 2 unrelated families.

PMID: 26378117 Daoud et al 2016 - homozygous missense variant identified in a female proband. 3rd child to consanguineous Tunisian parents. Proband also carried a paternally inherited balanced translocation. Antenatal USS identified IUGR. Postnatal Echo showed PDA and hypertrabeculation of LV apex.

PMID 19559399 Boissel et al 2009 - homozygous missense variant identified in 9 affected individuals from a consanguineous Palestinian Arab family. Phenotypic features identified most pertinent to the prenatal setting include: 3/7 IUGR, 7/7 retrognathia, congenital heart disease 6/8, lissencephaly 3/8, hypertrophic cardiomyopathy 4/8, hydrocephalus 4/8, cleft palate/bifid uvula 3/6.
Sources: Literature
Fetal anomalies v0.3140 ESRP2 Krithika Murali gene: ESRP2 was added
gene: ESRP2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ESRP2 were set to 29805042
Phenotypes for gene: ESRP2 were set to Cleft lip
Review for gene: ESRP2 was set to AMBER
Added comment: No new publications since last PanelApp review Feb 2021

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PMID: 29805042 Cox et al. Identified ESRP2 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr16:g.68266284C>T;p.Arg315) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant (chr16:g.68265234G>A;p.Arg520*) in another family.
Sources: Literature
Fetal anomalies v0.3140 EIF3F Krithika Murali gene: EIF3F was added
gene: EIF3F was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 33736665
Phenotypes for gene: EIF3F were set to ntellectual developmental disorder, autosomal recessive 67- MIM#618295
Review for gene: EIF3F was set to GREEN
Added comment: No new publications since PanelApp review Oct 2021

Hüffmeier et al (2021) reported 21 patients who were homozygous/compound heterozygous for Phe232Val variant in EIF3F. All affected individuals had developmental delay and speech delay. About half had behavioural problems, altered muscular tone, hearing loss, and short stature (3/7 from birth). The study suggests that microcephaly (4/10 from birth), reduced sensitivity to pain, cleft lip/palate (1/21), congenital heart defect (1/21), gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum.
Sources: Literature
Fetal anomalies v0.3140 COL9A3 Krithika Murali gene: COL9A3 was added
gene: COL9A3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COL9A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL9A3 were set to 33570243; 31090205; 30450842; 25381065; 24273071; 15551337
Phenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy - MIM#600969; Stickler syndrome
Review for gene: COL9A3 was set to GREEN
Added comment: 6 patients from 4 families reported with biallelic variants associated with a Stickler syndrome like phenotype. All of these cases characterised by the absence of cleft palate, which is noted more commonly in other autosomal dominant forms of Stickler syndrome.

Potential antenatally detectable features described with biallelic COL9A3 variants include fetal growth restriction (1/6), midface hypoplasia (6/6), tibial and femoral bowing (1/6)

PMID 33570243 Markova et al 2021 - report a patient with novel Class 4 compound heterozygous COL9A3 variants confirmed to be in trans. Antenatal USS identified fetal growth restriction in the third trimester. Examination findings by clinical geneticist aged 2 provided, including dysmorphic facial features noted - slightly flattened nasal bridge, small nose, mild mid-facial hypoplasia, high palate.

PMID 31090205 – Nixon et al 2019 - homozygous COL9A3 variant identified in proband, consanguineous family. Antenatal phenotype not provided, mid-facial hypoplasia noted.

PMID: 30450842 – Hanson-Kahn et al 2018 - proband homozygous for LoF COL9A3 variants.
Phenotypic features included moderate to severe sensorineural hearing loss, high myopia, mid-face hypoplasia and both tibial and femoral bowing at birth.

PMID 24273071 Faletra et al 2014 - first reported family with AR COL9A3 associated Stickler syndrome due to homozygous LoF variants. 3 siblings with hearing loss, midface hypoplasia, high myopia, variable severity ID from consanguineous Moroccan family.

--
Variants in COL9A3 have previously been associated with autosomal dominant multiple epiphyseal dysplasia, susceptibility to an intervertebral disc disease, and hearing loss. Generally milder phenotype than individuals with biallelic variants. However, PMID 33633367 Nash et al 2021 - report 2 families with heterozygous COL9A3 variants with a more severe Stickler-like phenotype including severe peripheral lattice vitreoretinal abnormalities and mild/moderate sensorineural hearing loss in some cases. No antenatal information provided
Sources: Literature
Fetal anomalies v0.3140 ANKRD17 Krithika Murali gene: ANKRD17 was added
gene: ANKRD17 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD17 were set to 33909992
Phenotypes for gene: ANKRD17 were set to Chopra-Amiel-Gordon syndrome - MIM#619504; multiple congenital malformations
Review for gene: ANKRD17 was set to GREEN
Added comment: 33909992 - Chopra et al 2021 reported 34 individuals from 33 families with a syndromic ID

Multiple cases with antenatal anomalies or features detectable antenatally reported
- 3/34 with cleft lip and/or palate (including 2 with Pierre Robin sequence)
- 1/34 retrognathia
- 5/34 renal anomalies including 3 with unilateral renal agenesis and 1 with antenatal diagnosis of horseshoe kidney
- 2/34 microcephaly
- 4/34 macrocephaly (1 noted on 37/40 antenatal USS to have macrocephaly and enlarged cisterna magna, 1 also had NSD1 variant)
- 5/34 IUGR/fetal growth concerns
-1/34 with VSD
Sources: Literature
Fetal anomalies v0.3140 ACBD5 Krithika Murali gene: ACBD5 was added
gene: ACBD5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 27799409; 23105016; 33427402; 34668366
Phenotypes for gene: ACBD5 were set to Retinal dystrophy with leukodystrophy - MIM#618863
Review for gene: ACBD5 was set to RED
Added comment: Biallelic ACBD5 variants cause impairment of very long-chain fatty acid metabolism. Patients have retinal dystrophy and leukodystrophy. Other features include ataxia, spastic paraparesis, developmental delay and facial dysmorphism. One patient with cleft palate reported but this may be an incidental finding and not related to this condition. No other antenatal features reported.

--

PMID 27799409 Ferdinandusse et al 2017 - patient born full-term with cleft palate, progressive leukodystrophy, ataxia, retinal dystrophy and facial dysmorphism

PMID 23105016 Abu-Safieh et al 2013 - limited phenotypic information, reported 3 siblings with homozygous splice site ACBD5 variants with spastic paraparesis and leukodystrophy.

PMID: 33427402 Bartlett et al 2020 - 36 year old F proband born at term after an uncomplicated pregnancy, normal growth parameters.

PMID: 34668366 Gorukmez et al 2021 - x2 siblings with homozygous variant – no antenatal features reported
Sources: Literature
Fetal anomalies v0.3140 ROBO3 Belinda Chong reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16525029, 15105459; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3140 CFAP74 Zornitza Stark Marked gene: CFAP74 as ready
Fetal anomalies v0.3140 CFAP74 Zornitza Stark Gene: cfap74 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3140 CFAP74 Zornitza Stark Classified gene: CFAP74 as Red List (low evidence)
Fetal anomalies v0.3140 CFAP74 Zornitza Stark Gene: cfap74 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3139 HAND2 Zornitza Stark Marked gene: HAND2 as ready
Fetal anomalies v0.3139 HAND2 Zornitza Stark Gene: hand2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3139 HAND2 Zornitza Stark Classified gene: HAND2 as Amber List (moderate evidence)
Fetal anomalies v0.3139 HAND2 Zornitza Stark Gene: hand2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3138 RMND1 Belinda Chong reviewed gene: RMND1: Rating: RED; Mode of pathogenicity: None; Publications: 23022099, 25604853, 27843092; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3138 QRICH1 Zornitza Stark Marked gene: QRICH1 as ready
Fetal anomalies v0.3138 QRICH1 Zornitza Stark Gene: qrich1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3138 QRICH1 Zornitza Stark Phenotypes for gene: QRICH1 were changed from QRICH1 syndrome to Ververi-Brady syndrome, MIM#617982
Fetal anomalies v0.3137 QRICH1 Zornitza Stark Publications for gene: QRICH1 were set to
Fetal anomalies v0.3136 QARS Zornitza Stark Marked gene: QARS as ready
Fetal anomalies v0.3136 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Fetal anomalies v0.3136 QARS Zornitza Stark Phenotypes for gene: QARS were changed from MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Fetal anomalies v0.3135 QARS Zornitza Stark Publications for gene: QARS were set to
Fetal anomalies v0.3134 QARS Zornitza Stark Classified gene: QARS as Green List (high evidence)
Fetal anomalies v0.3134 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Fetal anomalies v0.3133 PXDN Zornitza Stark Marked gene: PXDN as ready
Fetal anomalies v0.3133 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Fetal anomalies v0.3133 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Fetal anomalies v0.3132 PXDN Zornitza Stark Publications for gene: PXDN were set to
Fetal anomalies v0.3131 PXDN Zornitza Stark Classified gene: PXDN as Green List (high evidence)
Fetal anomalies v0.3131 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Fetal anomalies v0.3130 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Fetal anomalies v0.3130 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3130 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to 25152457; 31903955
Fetal anomalies v0.3129 PSAT1 Zornitza Stark Classified gene: PSAT1 as Green List (high evidence)
Fetal anomalies v0.3129 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3128 PSAT1 Zornitza Stark edited their review of gene: PSAT1: Changed phenotypes: Neu-Laxova syndrome 2, MIM# 616038
Fetal anomalies v0.3128 PSAT1 Zornitza Stark changed review comment from: Neu-Laxova syndrome: severe perinatal presentation with high mortality, not relevant to this panel. PSAT1 deficiency: single family described, ID is part of the phenotype. There is probably a spectrum of disorders related to this gene, downgrade to Amber on this panel for now.; to: Neu-Laxova syndrome: severe perinatal presentation with high mortality.
Fetal anomalies v0.3128 PSAT1 Zornitza Stark edited their review of gene: PSAT1: Changed rating: GREEN
Fetal anomalies v0.3128 PRUNE1 Zornitza Stark Marked gene: PRUNE1 as ready
Fetal anomalies v0.3128 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3128 PRUNE1 Zornitza Stark Classified gene: PRUNE1 as Green List (high evidence)
Fetal anomalies v0.3128 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3127 PREPL Zornitza Stark Marked gene: PREPL as ready
Fetal anomalies v0.3127 PREPL Zornitza Stark Gene: prepl has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3127 PREPL Zornitza Stark Phenotypes for gene: PREPL were changed from HYPOTONIA-CYSTINURIA SYNDROME to Myasthenic syndrome, congenital, 22, MIM#616224; Hypotonia-cystinuria syndrome
Fetal anomalies v0.3126 PREPL Zornitza Stark Publications for gene: PREPL were set to
Fetal anomalies v0.3125 PREPL Zornitza Stark edited their review of gene: PREPL: Added comment: At least six unrelated individuals and bi-allelic variants of this gene; however, several are said to have normal EMG/nerve conduction studies, therefore uncertain if this is truly a myasthenic syndrome.

In addition, different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. Presentation for these is post-natal.; Changed rating: AMBER; Changed publications: 29483676, 28726805, 24610330, 27472506
Fetal anomalies v0.3125 POP1 Zornitza Stark Marked gene: POP1 as ready
Fetal anomalies v0.3125 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3125 POP1 Zornitza Stark Publications for gene: POP1 were set to
Fetal anomalies v0.3124 POP1 Zornitza Stark Classified gene: POP1 as Green List (high evidence)
Fetal anomalies v0.3124 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3123 POP1 Zornitza Stark changed review comment from: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.; to: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.

At least 4 unrelated families reported.
Fetal anomalies v0.3123 POP1 Zornitza Stark edited their review of gene: POP1: Changed publications: 21455487, 27380734, 28067412
Fetal anomalies v0.3123 POP1 Zornitza Stark changed review comment from: Primarily a skeletal dysplasia, mild LD described in some but overall I don't think this is the right panel.; to: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.
Fetal anomalies v0.3123 POP1 Zornitza Stark edited their review of gene: POP1: Changed rating: GREEN
Fetal anomalies v0.3123 POLE Zornitza Stark Marked gene: POLE as ready
Fetal anomalies v0.3123 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Fetal anomalies v0.3123 POLE Zornitza Stark Phenotypes for gene: POLE were changed from severe growth failure of prenatal onset; IUGR; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) to IMAGE-I syndrome 618336
Fetal anomalies v0.3122 POLE Zornitza Stark Publications for gene: POLE were set to 23230001; 25948378
Fetal anomalies v0.3121 POLE Zornitza Stark Classified gene: POLE as Green List (high evidence)
Fetal anomalies v0.3121 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Fetal anomalies v0.3120 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Fetal anomalies v0.3120 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Fetal anomalies v0.3120 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
Fetal anomalies v0.3119 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Fetal anomalies v0.3118 PLPBP Zornitza Stark Classified gene: PLPBP as Green List (high evidence)
Fetal anomalies v0.3118 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Fetal anomalies v0.3117 PLPBP Zornitza Stark changed review comment from: Over 20 individuals reported. The most severe phenotypes were associated with variants leading to loss of function of PLPBP or significantly affecting protein stability/PLP-binding.; to: Over 20 individuals reported. The most severe phenotypes were associated with variants leading to loss of function of PLPBP or significantly affecting protein stability/PLP-binding.

Abnormal fetal movements reported.
Fetal anomalies v0.3117 PLG Zornitza Stark Marked gene: PLG as ready
Fetal anomalies v0.3117 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Fetal anomalies v0.3117 PLG Zornitza Stark Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090 to Plasminogen deficiency, type I, MIM# 217090; Hydrocephalus
Fetal anomalies v0.3116 PLG Zornitza Stark Publications for gene: PLG were set to
Fetal anomalies v0.3115 PLG Zornitza Stark Classified gene: PLG as Green List (high evidence)
Fetal anomalies v0.3115 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Fetal anomalies v0.3114 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Fetal anomalies v0.3114 PLD1 Zornitza Stark Gene: pld1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3114 PLD1 Zornitza Stark Classified gene: PLD1 as Green List (high evidence)
Fetal anomalies v0.3114 PLD1 Zornitza Stark Gene: pld1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3113 TOPORS Zornitza Stark Marked gene: TOPORS as ready
Fetal anomalies v0.3113 TOPORS Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3113 TOPORS Zornitza Stark Classified gene: TOPORS as Amber List (moderate evidence)
Fetal anomalies v0.3113 TOPORS Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3112 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from Diarrhea 3, secretory sodium, congenital, syndromic - MIM#270420; congenital secretory sodium diarrhea 3 - MONDO0010036 to Diarrhoea 3, secretory sodium, congenital, syndromic - MIM#270420; congenital secretory sodium diarrhea 3 - MONDO#0010036
Fetal anomalies v0.3111 SPINT2 Zornitza Stark reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 3, secretory sodium, congenital, syndromic - MIM#270420, congenital secretory sodium diarrhea 3 - MONDO#0010036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3111 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Fetal anomalies v0.3111 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3111 SPINT2 Zornitza Stark Classified gene: SPINT2 as Green List (high evidence)
Fetal anomalies v0.3111 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3110 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Fetal anomalies v0.3110 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3110 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Fetal anomalies v0.3110 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3109 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Fetal anomalies v0.3109 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3109 RPS28 Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence)
Fetal anomalies v0.3109 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3108 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Fetal anomalies v0.3108 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Fetal anomalies v0.3108 RPL15 Zornitza Stark Classified gene: RPL15 as Green List (high evidence)
Fetal anomalies v0.3108 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Fetal anomalies v0.3107 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Fetal anomalies v0.3107 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3107 PNPLA6 Zornitza Stark Classified gene: PNPLA6 as Amber List (moderate evidence)
Fetal anomalies v0.3107 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3106 TOPORS Krithika Murali gene: TOPORS was added
gene: TOPORS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOPORS were set to 34132027
Phenotypes for gene: TOPORS were set to MONDO:0005308; ciliopathy; postaxial polydactyly; multiple lingual hamartomas; dysmorphic features
Review for gene: TOPORS was set to AMBER
Added comment: Gene recently reviewed, no new publications since

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PMID:34132027 - Two unrelated probands with postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features both found to be homozygous for the same missense variant (p.Pro10Gln). Suggested possible founder allele. Further search did not identify any additional publications.

Note mono-allelic variants associated with RP.
Sources: Literature
Fetal anomalies v0.3106 SPINT2 Krithika Murali reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33029133, 29575628, 28716867, 24142340, 30445423, 19185281, 20009592, 24142340; Phenotypes: Diarrhea 3, secretory sodium, congenital, syndromic - MIM#270420, congenital secretory sodium diarrhea 3 - MONDO#0010036; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3106 SPINT2 Krithika Murali gene: SPINT2 was added
gene: SPINT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to 19185281; 20009592; 24142340; 30445423; 33547739; 33374714; 33029133
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic - MIM#270420; congenital secretory sodium diarrhea 3 - MONDO0010036
Fetal anomalies v0.3106 RPS29 Krithika Murali gene: RPS29 was added
gene: RPS29 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS29 were set to 24829207
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13 - MIM#615909
Review for gene: RPS29 was set to AMBER
Added comment: 2 unrelated families reported with Diamond Blackfan anaemia. DBA known to be associated with congenital malformations. 1 affected individual reported in this publication to have congenital aortic stenosis and Sprengel deformity.
Sources: Literature
Fetal anomalies v0.3106 RPS28 Krithika Murali gene: RPS28 was added
gene: RPS28 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS28 were set to 24942156
Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164
Review for gene: RPS28 was set to AMBER
Added comment: 2 unrelated families reported in 2014. Antenatally detectable phenotypic features included cleft palate, micrognathia, cardiac, auricular and renal anomalies
Sources: Literature
Fetal anomalies v0.3106 PYROXD1 Zornitza Stark Marked gene: PYROXD1 as ready
Fetal anomalies v0.3106 PYROXD1 Zornitza Stark Gene: pyroxd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3106 PYROXD1 Zornitza Stark Phenotypes for gene: PYROXD1 were changed from Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization to Myopathy, myofibrillar, 8 (MIM#617258)
Fetal anomalies v0.3105 PYROXD1 Zornitza Stark Publications for gene: PYROXD1 were set to
Fetal anomalies v0.3104 PYROXD1 Zornitza Stark Classified gene: PYROXD1 as Red List (low evidence)
Fetal anomalies v0.3104 PYROXD1 Zornitza Stark Gene: pyroxd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3103 RPL15 Krithika Murali gene: RPL15 was added
gene: RPL15 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RPL15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPL15 were set to 20301769; 29599205; 23812780
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12 - MIM#615550; multiple congenital malformations; hydrops
Review for gene: RPL15 was set to GREEN
Added comment: Known association with Diamond Blackfan anaemia (~1% of cases) which in turn is known to be associated with congenital malformations (craniofacial, upper limb, heart and genitourinary malformations). 3 of 4 patients with truncating RPL15 variants had severe non-immune hydrops fetalis and required intrauterine transfusions.
Sources: Literature
Fetal anomalies v0.3103 PYGM Zornitza Stark Marked gene: PYGM as ready
Fetal anomalies v0.3103 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Fetal anomalies v0.3103 PYGM Zornitza Stark Publications for gene: PYGM were set to
Fetal anomalies v0.3102 PYGM Zornitza Stark Classified gene: PYGM as Red List (low evidence)
Fetal anomalies v0.3102 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Fetal anomalies v0.3101 PTPN14 Zornitza Stark Marked gene: PTPN14 as ready
Fetal anomalies v0.3101 PTPN14 Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence).
Fetal anomalies v0.3101 PTPN14 Zornitza Stark Publications for gene: PTPN14 were set to
Fetal anomalies v0.3100 PTPN14 Zornitza Stark Classified gene: PTPN14 as Green List (high evidence)
Fetal anomalies v0.3100 PTPN14 Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence).
Fetal anomalies v0.3099 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Fetal anomalies v0.3099 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3099 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from 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 to Glycogen storage disease of heart, lethal congenital, OMIM:261740; Lethal congenital glycogen storage disease of heart, MONDO:0009867
Fetal anomalies v0.3098 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to
Fetal anomalies v0.3097 PRKAG2 Zornitza Stark Classified gene: PRKAG2 as Green List (high evidence)
Fetal anomalies v0.3097 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Fetal anomalies v0.3096 PPP3CA Zornitza Stark Marked gene: PPP3CA as ready
Fetal anomalies v0.3096 PPP3CA Zornitza Stark Gene: ppp3ca has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3096 PPP3CA Zornitza Stark Phenotypes for gene: PPP3CA were changed from Severe Neurodevelopmental Disease with Seizures to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265
Fetal anomalies v0.3095 PPP3CA Zornitza Stark Publications for gene: PPP3CA were set to
Fetal anomalies v0.3094 PPP3CA Zornitza Stark reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3094 POLR1A Zornitza Stark Marked gene: POLR1A as ready
Fetal anomalies v0.3094 POLR1A Zornitza Stark Gene: polr1a has been classified as Green List (High Evidence).
Fetal anomalies v0.3094 POLR1A Zornitza Stark Publications for gene: POLR1A were set to
Fetal anomalies v0.3093 POLR1A Zornitza Stark Mode of inheritance for gene: POLR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3092 POLR1A Zornitza Stark Classified gene: POLR1A as Green List (high evidence)
Fetal anomalies v0.3092 POLR1A Zornitza Stark Gene: polr1a has been classified as Green List (High Evidence).
Fetal anomalies v0.3091 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Fetal anomalies v0.3091 POLG2 Zornitza Stark Gene: polg2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3091 POLG2 Zornitza Stark Publications for gene: POLG2 were set to
Fetal anomalies v0.3090 POLG2 Zornitza Stark Classified gene: POLG2 as Red List (low evidence)
Fetal anomalies v0.3090 POLG2 Zornitza Stark Gene: polg2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3089 POLG2 Zornitza Stark reviewed gene: POLG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3089 PLCB4 Zornitza Stark Marked gene: PLCB4 as ready
Fetal anomalies v0.3089 PLCB4 Zornitza Stark Gene: plcb4 has been classified as Green List (High Evidence).
Fetal anomalies v0.3089 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from AURICULOCONDYLAR SYNDROME to Auriculocondylar syndrome 2, MIM# 614669
Fetal anomalies v0.3088 PLCB4 Zornitza Stark Publications for gene: PLCB4 were set to
Fetal anomalies v0.3087 PLCB4 Zornitza Stark Mode of inheritance for gene: PLCB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.3086 PLCB4 Zornitza Stark Classified gene: PLCB4 as Green List (high evidence)
Fetal anomalies v0.3086 PLCB4 Zornitza Stark Gene: plcb4 has been classified as Green List (High Evidence).
Fetal anomalies v0.3085 WDR26 Zornitza Stark reviewed gene: WDR26: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.3085 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Fetal anomalies v0.3084 PNPLA6 Krithika Murali gene: PNPLA6 was added
gene: PNPLA6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 35069422; 33818269; 25299038; 33210227; 33141049; 32758583; 32586184
Phenotypes for gene: PNPLA6 were set to Oliver-McFarlane syndrome - MIM#275400
Review for gene: PNPLA6 was set to AMBER
Added comment: Heterogenous group of neurodegenerative conditions associated with biallelic PNPLA6 gene variants with childhood or adult onset symptoms. Oliver-McFarlane syndrome (OMFS) though is a rare congenital disorder characterised by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. Congenital hypogonadism is present in half of patients. Low birth weight, preterm delivery and being small for gestational age has been reported as a feature of OMFS. One case of microcephaly has been reported. Overall, limited prenatal phenotypic information for all reported cases of OMFS but associated growth restriction has the potential to be detected antenatally.

--

33818269 - report two unrelated patients with Oliver McFarlane syndrome with biallelic PNPLA6 variants who were born pre-term and small for gestational age.

32758583 Liu et al 2020 - report one boy with Oliver McFarlane syndrome diagnosed with microcephaly and small for gestational age after delivery at 35 weeks.
Sources: Literature
Fetal anomalies v0.3084 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Fetal anomalies v0.3084 PDE6D Zornitza Stark Gene: pde6d has been classified as Green List (High Evidence).
Fetal anomalies v0.3084 PDE6D Zornitza Stark Classified gene: PDE6D as Green List (high evidence)
Fetal anomalies v0.3084 PDE6D Zornitza Stark Gene: pde6d has been classified as Green List (High Evidence).
Fetal anomalies v0.3083 NPM1 Zornitza Stark Marked gene: NPM1 as ready
Fetal anomalies v0.3083 NPM1 Zornitza Stark Gene: npm1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3083 NPM1 Zornitza Stark Phenotypes for gene: NPM1 were changed from Dyskeratosis congenita to Dyskeratosis congenita, MONDO:0015780, NPM1-related
Fetal anomalies v0.3082 NPM1 Zornitza Stark Classified gene: NPM1 as Amber List (moderate evidence)
Fetal anomalies v0.3082 NPM1 Zornitza Stark Gene: npm1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3081 KIAA0825 Zornitza Stark Marked gene: KIAA0825 as ready
Fetal anomalies v0.3081 KIAA0825 Zornitza Stark Gene: kiaa0825 has been classified as Green List (High Evidence).
Fetal anomalies v0.3081 KIAA0825 Zornitza Stark Classified gene: KIAA0825 as Green List (high evidence)
Fetal anomalies v0.3081 KIAA0825 Zornitza Stark Gene: kiaa0825 has been classified as Green List (High Evidence).
Fetal anomalies v0.3080 IQCE Zornitza Stark Marked gene: IQCE as ready
Fetal anomalies v0.3080 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Fetal anomalies v0.3080 IQCE Zornitza Stark Classified gene: IQCE as Green List (high evidence)
Fetal anomalies v0.3080 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Fetal anomalies v0.3079 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Fetal anomalies v0.3079 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Fetal anomalies v0.3079 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Fetal anomalies v0.3079 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Fetal anomalies v0.3078 HMGB1 Zornitza Stark Marked gene: HMGB1 as ready
Fetal anomalies v0.3078 HMGB1 Zornitza Stark Gene: hmgb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3078 HMGB1 Zornitza Stark Phenotypes for gene: HMGB1 were changed from microcephaly; intellectual disability to Neurodevelopmental disorder MONDO:0700092, HMGB1-related; microcephaly; intellectual disability
Fetal anomalies v0.3077 HMGB1 Zornitza Stark Classified gene: HMGB1 as Green List (high evidence)
Fetal anomalies v0.3077 HMGB1 Zornitza Stark Gene: hmgb1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3076 FAM92A Zornitza Stark Marked gene: FAM92A as ready
Fetal anomalies v0.3076 FAM92A Zornitza Stark Gene: fam92a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3076 FAM92A Zornitza Stark Classified gene: FAM92A as Amber List (moderate evidence)
Fetal anomalies v0.3076 FAM92A Zornitza Stark Gene: fam92a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3075 PDSS2 Zornitza Stark Marked gene: PDSS2 as ready
Fetal anomalies v0.3075 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3075 PDSS2 Zornitza Stark Phenotypes for gene: PDSS2 were changed from COENZYME Q10 DEFICIENCY, PRIMARY, 3 to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Fetal anomalies v0.3074 PDSS2 Zornitza Stark Publications for gene: PDSS2 were set to
Fetal anomalies v0.3073 PDHX Zornitza Stark Marked gene: PDHX as ready
Fetal anomalies v0.3073 PDHX Zornitza Stark Gene: pdhx has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3073 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from LACTICACIDEMIA DUE TO PDX1 DEFICIENCY to Lactic acidaemia due to PDX1 deficiency MIM#245349
Fetal anomalies v0.3072 PDHX Zornitza Stark Publications for gene: PDHX were set to
Fetal anomalies v0.3071 PDHX Zornitza Stark Classified gene: PDHX as Amber List (moderate evidence)
Fetal anomalies v0.3071 PDHX Zornitza Stark Gene: pdhx has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3070 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Fetal anomalies v0.3070 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Fetal anomalies v0.3070 TRRAP Zornitza Stark Classified gene: TRRAP as Green List (high evidence)
Fetal anomalies v0.3070 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Fetal anomalies v0.3069 G6PD Zornitza Stark Marked gene: G6PD as ready
Fetal anomalies v0.3069 G6PD Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence).
Fetal anomalies v0.3069 G6PD Zornitza Stark Classified gene: G6PD as Red List (low evidence)
Fetal anomalies v0.3069 G6PD Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence).
Fetal anomalies v0.3068 NT5C3A Zornitza Stark Marked gene: NT5C3A as ready
Fetal anomalies v0.3068 NT5C3A Zornitza Stark Gene: nt5c3a has been classified as Red List (Low Evidence).
Fetal anomalies v0.3068 NT5C3A Zornitza Stark Phenotypes for gene: NT5C3A were changed from HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY to Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120
Fetal anomalies v0.3067 NT5C3A Zornitza Stark Publications for gene: NT5C3A were set to
Fetal anomalies v0.3066 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Fetal anomalies v0.3066 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3066 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Fetal anomalies v0.3065 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Fetal anomalies v0.3064 MYBPC1 Zornitza Stark Publications for gene: MYBPC1 were set to
Fetal anomalies v0.3063 NDUFS8 Zornitza Stark Marked gene: NDUFS8 as ready
Fetal anomalies v0.3063 NDUFS8 Zornitza Stark Gene: ndufs8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3063 NDUFS8 Zornitza Stark Phenotypes for gene: NDUFS8 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222
Fetal anomalies v0.3062 NDUFS8 Zornitza Stark Publications for gene: NDUFS8 were set to
Fetal anomalies v0.3061 MUSK Zornitza Stark Publications for gene: MUSK were set to
Fetal anomalies v0.3060 MTOR Zornitza Stark Publications for gene: MTOR were set to
Fetal anomalies v0.3059 MTOR Zornitza Stark Mode of pathogenicity for gene: MTOR was changed from to Other
Fetal anomalies v0.3058 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3057 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Fetal anomalies v0.3057 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3057 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Fetal anomalies v0.3056 NDUFA1 Zornitza Stark Publications for gene: NDUFA1 were set to
Fetal anomalies v0.3055 MYO5A Zornitza Stark Marked gene: MYO5A as ready
Fetal anomalies v0.3055 MYO5A Zornitza Stark Gene: myo5a has been classified as Red List (Low Evidence).
Fetal anomalies v0.3055 MYO5A Zornitza Stark Phenotypes for gene: MYO5A were changed from GRISCELLI SYNDROME TYPE 3; ELEJALDE SYNDROME to Griscelli syndrome, type 1 MIM#214450
Fetal anomalies v0.3054 MYO5A Zornitza Stark Publications for gene: MYO5A were set to
Fetal anomalies v0.3053 LTBP2 Zornitza Stark Marked gene: LTBP2 as ready
Fetal anomalies v0.3053 LTBP2 Zornitza Stark Gene: ltbp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3053 LTBP2 Zornitza Stark Phenotypes for gene: LTBP2 were changed from MICROSPHEROPHAKIA; PRIMARY CONGENITAL GLAUCOMA TYPE 3D to Glaucoma 3, primary congenital, D 613086; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750
Fetal anomalies v0.3052 LTBP2 Zornitza Stark Publications for gene: LTBP2 were set to
Fetal anomalies v0.3051 MTO1 Zornitza Stark Publications for gene: MTO1 were set to
Fetal anomalies v0.3050 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Fetal anomalies v0.3050 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3050 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from LEIGH SYNDROME, FRENCH-CANADIAN TYPE to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Fetal anomalies v0.3049 LRPPRC Zornitza Stark Publications for gene: LRPPRC were set to
Fetal anomalies v0.3048 LRPPRC Zornitza Stark Classified gene: LRPPRC as Amber List (moderate evidence)
Fetal anomalies v0.3048 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3047 MPLKIP Zornitza Stark Publications for gene: MPLKIP were set to
Fetal anomalies v0.3046 MPDU1 Zornitza Stark Publications for gene: MPDU1 were set to
Fetal anomalies v0.3045 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to
Fetal anomalies v0.3044 MNX1 Zornitza Stark Mode of inheritance for gene: MNX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3043 MMP21 Zornitza Stark Publications for gene: MMP21 were set to
Fetal anomalies v0.3042 MLYCD Zornitza Stark Publications for gene: MLYCD were set to
Fetal anomalies v0.3041 LMOD1 Zornitza Stark Marked gene: LMOD1 as ready
Fetal anomalies v0.3041 LMOD1 Zornitza Stark Gene: lmod1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3041 LMOD1 Zornitza Stark Phenotypes for gene: LMOD1 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362
Fetal anomalies v0.3040 LMOD1 Zornitza Stark Publications for gene: LMOD1 were set to
Fetal anomalies v0.3039 LMOD1 Zornitza Stark Classified gene: LMOD1 as Amber List (moderate evidence)
Fetal anomalies v0.3039 LMOD1 Zornitza Stark Gene: lmod1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3038 LEMD3 Zornitza Stark Marked gene: LEMD3 as ready
Fetal anomalies v0.3038 LEMD3 Zornitza Stark Gene: lemd3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3038 LEMD3 Zornitza Stark Phenotypes for gene: LEMD3 were changed from BUSCHKE-OLLENDORFF SYNDROME; MELORHEOSTOSIS to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700
Fetal anomalies v0.3037 LEMD3 Zornitza Stark Mode of inheritance for gene: LEMD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3036 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Fetal anomalies v0.3036 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3036 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome; SPINOCEREBELLAR ATAXIA TYPE15 to Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360; Gillespie syndrome, MIM# 206700
Fetal anomalies v0.3035 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Fetal anomalies v0.3034 UROS Zornitza Stark Marked gene: UROS as ready
Fetal anomalies v0.3034 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Fetal anomalies v0.3034 UROS Zornitza Stark Classified gene: UROS as Green List (high evidence)
Fetal anomalies v0.3034 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Fetal anomalies v0.3033 MVK Zornitza Stark Marked gene: MVK as ready
Fetal anomalies v0.3033 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Fetal anomalies v0.3033 MVK Zornitza Stark Classified gene: MVK as Green List (high evidence)
Fetal anomalies v0.3033 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Fetal anomalies v0.3032 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Fetal anomalies v0.3032 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3032 LAMB2 Zornitza Stark Classified gene: LAMB2 as Amber List (moderate evidence)
Fetal anomalies v0.3032 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3031 PYROXD1 Belinda Chong reviewed gene: PYROXD1: Rating: RED; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833; Phenotypes: Myopathy, myofibrillar, 8 (MIM#617258); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3031 PYGM Belinda Chong reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: 1701414, 8316268, 17915571, 17994553, 21880526; Phenotypes: McArdle disease, MIM# 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3031 PTPN14 Belinda Chong reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 20826270, https://doi.org/10.1016/j.mgene.2017.07.006; Phenotypes: Choanal atresia and lymphedema MIM#613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3031 PRKAG2 Belinda Chong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877279, 17667862, 32646569; Phenotypes: Glycogen storage disease of heart, lethal congenital MIM#261740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3031 PPP3CA Belinda Chong reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: None; Publications: 29432562, 28942967, 28942967; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265, Developmental and epileptic encephalopathy 91 617711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3031 POLR1A Belinda Chong reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037, 28051070; Phenotypes: Acrofacial dysostosis, Cincinnati type, (MIM#616462); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.3031 POLG2 Belinda Chong reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3031 PLCB4 Belinda Chong reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22560091, 23315542, 33131036, 32201334, 28328130, 27007857, 23913798; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.3031 PLCB1 Zornitza Stark Marked gene: PLCB1 as ready
Fetal anomalies v0.3031 PLCB1 Zornitza Stark Gene: plcb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3031 PLCB1 Zornitza Stark Phenotypes for gene: PLCB1 were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 to Epileptic encephalopathy, early infantile, 12 (MIM#613722)
Fetal anomalies v0.3030 PLCB1 Zornitza Stark Publications for gene: PLCB1 were set to
Fetal anomalies v0.3029 PLCB1 Zornitza Stark Classified gene: PLCB1 as Red List (low evidence)
Fetal anomalies v0.3029 PLCB1 Zornitza Stark Gene: plcb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3028 PLCB1 Zornitza Stark reviewed gene: PLCB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 12 (MIM#613722); Mode of inheritance: None
Fetal anomalies v0.3028 PLAG1 Zornitza Stark Marked gene: PLAG1 as ready
Fetal anomalies v0.3028 PLAG1 Zornitza Stark Gene: plag1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3028 PLAG1 Zornitza Stark Publications for gene: PLAG1 were set to
Fetal anomalies v0.3027 PLAG1 Zornitza Stark Mode of inheritance for gene: PLAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3026 PLAG1 Zornitza Stark Classified gene: PLAG1 as Green List (high evidence)
Fetal anomalies v0.3026 PLAG1 Zornitza Stark Gene: plag1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3025 PLAG1 Zornitza Stark reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28796236, 29913240, 33291420, 32546215; Phenotypes: Silver-Russell syndrome, MIM#618907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3025 PLAA Zornitza Stark Marked gene: PLAA as ready
Fetal anomalies v0.3025 PLAA Zornitza Stark Gene: plaa has been classified as Green List (High Evidence).
Fetal anomalies v0.3025 PLAA Zornitza Stark Phenotypes for gene: PLAA were changed from Lethal Infantile Epileptic Encephalopathy to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527
Fetal anomalies v0.3024 PLAA Zornitza Stark Publications for gene: PLAA were set to
Fetal anomalies v0.3023 PLAA Zornitza Stark Classified gene: PLAA as Green List (high evidence)
Fetal anomalies v0.3023 PLAA Zornitza Stark Gene: plaa has been classified as Green List (High Evidence).
Fetal anomalies v0.3022 PLAA Zornitza Stark changed review comment from: NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy.

At least 5 families reported.; to: NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy.

At least 5 families reported. Mouse model.
Fetal anomalies v0.3022 PLAA Zornitza Stark edited their review of gene: PLAA: Changed rating: GREEN
Fetal anomalies v0.3022 PLAA Zornitza Stark reviewed gene: PLAA: Rating: ; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3022 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Fetal anomalies v0.3022 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Fetal anomalies v0.3022 PIK3C2A Zornitza Stark Publications for gene: PIK3C2A were set to
Fetal anomalies v0.3021 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Fetal anomalies v0.3021 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Fetal anomalies v0.3020 PIK3C2A Zornitza Stark changed review comment from: Three unrelated families, ID is part of the phenotype.
Sources: Expert list; to: Three unrelated families, cataracts and skeletal abnormalities are part of the phenotype.
Sources: Expert list
Fetal anomalies v0.3020 PIH1D3 Zornitza Stark Marked gene: PIH1D3 as ready
Fetal anomalies v0.3020 PIH1D3 Zornitza Stark Gene: pih1d3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3020 PIH1D3 Zornitza Stark Publications for gene: PIH1D3 were set to
Fetal anomalies v0.3019 PIH1D3 Zornitza Stark Classified gene: PIH1D3 as Green List (high evidence)
Fetal anomalies v0.3019 PIH1D3 Zornitza Stark Gene: pih1d3 has been classified as Green List (High Evidence).
Fetal anomalies v0.3018 PIGY Zornitza Stark Marked gene: PIGY as ready
Fetal anomalies v0.3018 PIGY Zornitza Stark Gene: pigy has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3018 PIGY Zornitza Stark Phenotypes for gene: PIGY were changed from Glycosylphosphatidylinositol deficiency to Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809
Fetal anomalies v0.3017 PIGY Zornitza Stark Publications for gene: PIGY were set to
Fetal anomalies v0.3016 PIGY Zornitza Stark changed review comment from: Two unrelated families only; variable phenotype described. One family had a promoter region homozygous variant.; to: Two unrelated families only; variable phenotype described. One family had a promoter region homozygous variant.

Joint contractures, microcephaly, cataracts and other ultrasound-detectable abnormalities reported.
Fetal anomalies v0.3016 PIGN Zornitza Stark Marked gene: PIGN as ready
Fetal anomalies v0.3016 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Fetal anomalies v0.3016 PIGN Zornitza Stark Publications for gene: PIGN were set to
Fetal anomalies v0.3015 PIGN Zornitza Stark Classified gene: PIGN as Green List (high evidence)
Fetal anomalies v0.3015 PIGN Zornitza Stark Gene: pign has been classified as Green List (High Evidence).
Fetal anomalies v0.3014 PIGG Zornitza Stark Marked gene: PIGG as ready
Fetal anomalies v0.3014 PIGG Zornitza Stark Gene: pigg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3014 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from Intellectual Disability with Seizures and Hypotonia to Intellectual developmental disorder, autosomal recessive 53, MIM#616917
Fetal anomalies v0.3013 PIGG Zornitza Stark Publications for gene: PIGG were set to
Fetal anomalies v0.3012 PIGG Zornitza Stark changed review comment from: Five patients from 3 unrelated families described with bi-allelic variants in this gene.
Sources: Expert Review; to: Five patients from 3 unrelated families described with bi-allelic variants in this gene.

Some had brain abnormalities (cerebellar atrophy and thin CC): uncertain if this is a consistent/prominent feature of this disorder at present. Otherwise, clinical presentation is typically post-natal.

Sources: Expert Review
Fetal anomalies v0.3012 PIGG Zornitza Stark edited their review of gene: PIGG: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 53, MIM#616917
Fetal anomalies v0.3012 PIGG Zornitza Stark edited their review of gene: PIGG: Changed rating: AMBER
Fetal anomalies v0.3012 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Fetal anomalies v0.3012 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3012 PIBF1 Zornitza Stark Publications for gene: PIBF1 were set to
Fetal anomalies v0.3011 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Fetal anomalies v0.3011 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.3010 PHF21A Zornitza Stark Marked gene: PHF21A as ready
Fetal anomalies v0.3010 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Fetal anomalies v0.3010 PHF21A Zornitza Stark Phenotypes for gene: PHF21A were changed from POTOCKI-SHAFFER SYNDROME to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIIM# 618725
Fetal anomalies v0.3009 PHF21A Zornitza Stark Publications for gene: PHF21A were set to
Fetal anomalies v0.3008 PHF21A Zornitza Stark Mode of inheritance for gene: PHF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3007 PHF21A Zornitza Stark Classified gene: PHF21A as Green List (high evidence)
Fetal anomalies v0.3007 PHF21A Zornitza Stark Gene: phf21a has been classified as Green List (High Evidence).
Fetal anomalies v0.3006 PHF21A Zornitza Stark changed review comment from: Macrocephaly at birth.; to: Macrosomia at birth.
Fetal anomalies v0.3006 PHF21A Zornitza Stark commented on gene: PHF21A: Macrocephaly at birth.
Fetal anomalies v0.3006 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed publications: 30578875, 31231132, 33098103, 30157810, 28704707, 28543917, 24931394
Fetal anomalies v0.3006 PGM3 Zornitza Stark changed review comment from: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation.

Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity.

More than 10 unrelated families reported.

Typically presents post-natally.; to: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation.

Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity.

More than 10 unrelated families reported.

Typically presents post-natally. However, more severe presentations with skeletal abnormalities and congenital malformations reported in PMID 28543917 and 24931394.
Fetal anomalies v0.3006 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed publications: 30578875, 31231132, 33098103, 30157810, 28704707, 28543917 24931394
Fetal anomalies v0.3006 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed rating: AMBER
Fetal anomalies v0.3006 PGM3 Zornitza Stark Classified gene: PGM3 as Amber List (moderate evidence)
Fetal anomalies v0.3006 PGM3 Zornitza Stark Gene: pgm3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3005 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Fetal anomalies v0.3005 PGM3 Zornitza Stark Gene: pgm3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3005 PGM3 Zornitza Stark Publications for gene: PGM3 were set to 28543917; 24931394
Fetal anomalies v0.3004 PGM3 Zornitza Stark Classified gene: PGM3 as Red List (low evidence)
Fetal anomalies v0.3004 PGM3 Zornitza Stark Gene: pgm3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3003 PGM3 Zornitza Stark changed review comment from: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation.

Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity.

More than 10 unrelated families reported.; to: Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation.

Bi-allelic variants in this gene are associated with a primary immunodeficiency syndrome characterised by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity.

More than 10 unrelated families reported.

Typically presents post-natally.
Fetal anomalies v0.3003 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed rating: RED
Fetal anomalies v0.3003 WDR26 Seb Lunke Marked gene: WDR26 as ready
Fetal anomalies v0.3003 WDR26 Seb Lunke Gene: wdr26 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3003 WDR26 Seb Lunke Phenotypes for gene: WDR26 were changed from Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features to Skraban-Deardorff syndrome, MIM#617616; Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Fetal anomalies v0.3002 WDR26 Seb Lunke Publications for gene: WDR26 were set to
Fetal anomalies v0.3001 WDR26 Seb Lunke Classified gene: WDR26 as Amber List (moderate evidence)
Fetal anomalies v0.3001 WDR26 Seb Lunke Added comment: Comment on list classification: Craniofacial features to subtle for US, brain abnormalities are not always present and also subtle.
Fetal anomalies v0.3001 WDR26 Seb Lunke Gene: wdr26 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3000 WDR34 Seb Lunke Marked gene: WDR34 as ready
Fetal anomalies v0.3000 WDR34 Seb Lunke Gene: wdr34 has been classified as Green List (High Evidence).
Fetal anomalies v0.3000 WDR34 Seb Lunke Phenotypes for gene: WDR34 were changed from SHORT-RIB POLYDACTYLY SYNDROME TYPE III; SEVERE ASPHYXIATING THORACIC DYSPLASIA to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633
Fetal anomalies v0.2999 WDR34 Seb Lunke Publications for gene: WDR34 were set to
Fetal anomalies v0.2998 WDR35 Seb Lunke Marked gene: WDR35 as ready
Fetal anomalies v0.2998 WDR35 Seb Lunke Gene: wdr35 has been classified as Green List (High Evidence).
Fetal anomalies v0.2998 WDR35 Seb Lunke Publications for gene: WDR35 were set to
Fetal anomalies v0.2997 WDR35 Seb Lunke Phenotypes for gene: WDR35 were changed from CRANIOECTODERMAL DYSPLASIA 2; SHORT RIB-POLYDACTYLY SYNDROME, TYPE V to Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569
Fetal anomalies v0.2996 WDR60 Seb Lunke Marked gene: WDR60 as ready
Fetal anomalies v0.2996 WDR60 Seb Lunke Gene: wdr60 has been classified as Green List (High Evidence).
Fetal anomalies v0.2996 WDR60 Seb Lunke Publications for gene: WDR60 were set to
Fetal anomalies v0.2995 WDR60 Seb Lunke Phenotypes for gene: WDR60 were changed from SHORT-RIB POLYDACTYLY; JEUNE SYNDROMES to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
Fetal anomalies v0.2994 WDR62 Seb Lunke Marked gene: WDR62 as ready
Fetal anomalies v0.2994 WDR62 Seb Lunke Gene: wdr62 has been classified as Green List (High Evidence).
Fetal anomalies v0.2994 WDR62 Seb Lunke Phenotypes for gene: WDR62 were changed from MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Fetal anomalies v0.2993 PDE6D Krithika Murali gene: PDE6D was added
gene: PDE6D was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6D were set to 30423442; 24166846
Phenotypes for gene: PDE6D were set to Joubert syndrome 22 - MIM#615665
Review for gene: PDE6D was set to GREEN
Added comment: Biallelic variants associated with Joubert syndrome identified in 2 families. Antenatal detection possible.

30423442 Megarbane et al 2018
Report homozygous truncating PDE6D variant in a male infant with post-axial polydactyly noted at birth on all extremities. Brain MRI at 6 months of age showed cerebellar vermis agenesis, hypoplastic corpus callosum, cortical atrophy of the temporal lobes and molar tooth sign.

PMID 24166846 Thomas et al 2014 report a consanguineous family with three affected and 2 healthy sibs. Features noted in both liveborn children:
- 1/2 IUGR
- 1/2 facial dysmorphism
- 2/2 postaxial polydactyly
- 1/2 syndactyly
- 1/2 renal hypoplasia
- 2/2 microphthalmia
- 1/2 supportive MRI-B features
- 1/2 coloboma

3rd sibling is a male fetus terminated at 14 weeks gestation following findings of brain anomalies and polydactyly.

Supportive animal models
Sources: Literature
Fetal anomalies v0.2993 NPM1 Krithika Murali gene: NPM1 was added
gene: NPM1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to Dyskeratosis congenita
Review for gene: NPM1 was set to AMBER
Added comment: Heterozygous variants identified in 2 patients with dyskeratosis congenita (DKC).

x1 patient with NPM1 missense mutation presented with severe growth defects at birth, thumb abnormalities and thrombocytopenia.

x1 patient with in-frame NPM1 deletion presented with skin pigmentation abnormalities, nail dystrophy, microcephaly, developmental delay, short stature, skeletal abnormalities in the
radius and bone marrow failure by age 6.

Some of these features may be amenable to antenatal detection.
Sources: Literature
Fetal anomalies v0.2993 PGAP1 Zornitza Stark Marked gene: PGAP1 as ready
Fetal anomalies v0.2993 PGAP1 Zornitza Stark Gene: pgap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2993 PGAP1 Zornitza Stark Phenotypes for gene: PGAP1 were changed from Intellectual disability, encephalopathy, impaired GPI-anchor maturation to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802
Fetal anomalies v0.2992 PGAP1 Zornitza Stark Publications for gene: PGAP1 were set to
Fetal anomalies v0.2991 PGAP1 Zornitza Stark Classified gene: PGAP1 as Green List (high evidence)
Fetal anomalies v0.2991 PGAP1 Zornitza Stark Gene: pgap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2990 PGAP1 Zornitza Stark reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2990 PET100 Zornitza Stark Marked gene: PET100 as ready
Fetal anomalies v0.2990 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Fetal anomalies v0.2990 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Fetal anomalies v0.2989 PET100 Zornitza Stark Publications for gene: PET100 were set to
Fetal anomalies v0.2988 PET100 Zornitza Stark Classified gene: PET100 as Green List (high evidence)
Fetal anomalies v0.2988 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Fetal anomalies v0.2987 PET100 Zornitza Stark changed review comment from: Founder effect in 6 Australian families of Lebanese origin (M1?) reported originally; functional data. Second family with different variants also reported; and another 2 Lebanese families with same founder variant.; to: Founder effect in 6 Australian families of Lebanese origin (M1?) reported originally; functional data. Second family with different variants also reported; and another 2 Lebanese families with same founder variant.

IUGR is a feature.
Fetal anomalies v0.2987 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Fetal anomalies v0.2987 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2987 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from COENZYME Q10 DEFICIENCY, PRIMARY, 2 to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Fetal anomalies v0.2986 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Fetal anomalies v0.2985 PDSS1 Zornitza Stark Classified gene: PDSS1 as Red List (low evidence)
Fetal anomalies v0.2985 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2984 PDSS1 Zornitza Stark reviewed gene: PDSS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2984 PDE10A Zornitza Stark Marked gene: PDE10A as ready
Fetal anomalies v0.2984 PDE10A Zornitza Stark Gene: pde10a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2984 PDE10A Zornitza Stark Phenotypes for gene: PDE10A were changed from Childhood-Onset Chorea with Bilateral Striatal Lesions to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921; Striatal degeneration, autosomal dominant, MIM#616922
Fetal anomalies v0.2983 PDE10A Zornitza Stark Publications for gene: PDE10A were set to
Fetal anomalies v0.2982 PDE10A Zornitza Stark Mode of inheritance for gene: PDE10A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2981 PDE10A Zornitza Stark Classified gene: PDE10A as Red List (low evidence)
Fetal anomalies v0.2981 PDE10A Zornitza Stark Gene: pde10a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2980 PDE10A Zornitza Stark Deleted their comment
Fetal anomalies v0.2980 PDE10A Zornitza Stark Deleted their comment
Fetal anomalies v0.2980 PDE10A Zornitza Stark edited their review of gene: PDE10A: Added comment: Both disorders typically present post-natally.; Changed rating: RED; Changed phenotypes: Dyskinesia, limb and orofacial, infantile-onset, MIM#616921, Striatal degeneration, autosomal dominant, MIM#616922; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2980 Zornitza Stark removed gene:PDE6H from the panel
Fetal anomalies v0.2979 PAICS Zornitza Stark Marked gene: PAICS as ready
Fetal anomalies v0.2979 PAICS Zornitza Stark Gene: paics has been classified as Red List (Low Evidence).
Fetal anomalies v0.2979 PAICS Zornitza Stark Classified gene: PAICS as Red List (low evidence)
Fetal anomalies v0.2979 PAICS Zornitza Stark Gene: paics has been classified as Red List (Low Evidence).
Fetal anomalies v0.2978 PAICS Zornitza Stark reviewed gene: PAICS: Rating: RED; Mode of pathogenicity: None; Publications: 31600779; Phenotypes: Polyhydramnios, multiple congenital abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2978 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Fetal anomalies v0.2978 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2978 PACS1 Zornitza Stark Phenotypes for gene: PACS1 were changed from INTELLECTUAL DISABILITY to Schuurs-Hoeijmakers syndrome (MIM# 615009)
Fetal anomalies v0.2977 PACS1 Zornitza Stark Publications for gene: PACS1 were set to 30712880
Fetal anomalies v0.2976 PACS1 Zornitza Stark Mode of inheritance for gene: PACS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2975 KIAA0825 Krithika Murali gene: KIAA0825 was added
gene: KIAA0825 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0825 were set to 33776623; 32147526; 30982135
Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10 - MIM#618498
Review for gene: KIAA0825 was set to GREEN
Added comment: 4 families of Pakistani/Sindhi origin reported with post-axial polydactyly
Sources: Literature
Fetal anomalies v0.2975 PACS1 Zornitza Stark Classified gene: PACS1 as Green List (high evidence)
Fetal anomalies v0.2975 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2974 PACS1 Zornitza Stark changed review comment from: Multiple individuals reported with recurrent p.Arg203Trp variant; in vitro assays is suggestive of dominant-negative disease mechanism; to: Multiple individuals reported with recurrent p.Arg203Trp variant; in vitro assays is suggestive of dominant-negative disease mechanism

Brain, cardiac and renal abnormalities reported.
Fetal anomalies v0.2974 P4HB Zornitza Stark Marked gene: P4HB as ready
Fetal anomalies v0.2974 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Fetal anomalies v0.2974 P4HB Zornitza Stark Publications for gene: P4HB were set to
Fetal anomalies v0.2973 P4HB Zornitza Stark Mode of inheritance for gene: P4HB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2972 P4HB Zornitza Stark Classified gene: P4HB as Green List (high evidence)
Fetal anomalies v0.2972 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Fetal anomalies v0.2971 OTUD5 Zornitza Stark Marked gene: OTUD5 as ready
Fetal anomalies v0.2971 OTUD5 Zornitza Stark Gene: otud5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2971 OTUD5 Zornitza Stark Classified gene: OTUD5 as Green List (high evidence)
Fetal anomalies v0.2971 OTUD5 Zornitza Stark Gene: otud5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2970 IQCE Krithika Murali gene: IQCE was added
gene: IQCE was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 31549751; 28488682
Phenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 - MIM#617642
Review for gene: IQCE was set to GREEN
Added comment: Known association with polydactyly, syndactyly and brachydactyly.
Sources: Literature
Fetal anomalies v0.2970 IFT27 Krithika Murali gene: IFT27 was added
gene: IFT27 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19-MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Biallelic variants associated with Bardet-Biedl syndrome. Phenotypic features detectable antenatally include polydactyly, cardiac and brain anomalies also reported.
Sources: Literature
Fetal anomalies v0.2970 HMGB1 Krithika Murali gene: HMGB1 was added
gene: HMGB1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGB1 were set to 34164801
Phenotypes for gene: HMGB1 were set to microcephaly; intellectual disability
Review for gene: HMGB1 was set to GREEN
Added comment: 34164801 Uguen et al 2021 report 6 unrelated individuals with LoF HMGB1 variants associated with syndromic ID. 4 individuals reported to have microcephaly - majority noted to have microcephaly at birth +/- growth restriction.
Sources: Literature
Fetal anomalies v0.2970 FAM92A Krithika Murali gene: FAM92A was added
gene: FAM92A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM92A were set to 30395363
Phenotypes for gene: FAM92A were set to Polydactyly, postaxial, type A9 - MIM#618219
Review for gene: FAM92A was set to AMBER
Added comment: 30395363 - homozygous nonsense variants in FAM92A segregated with postaxial polydactyly in x1 consanguineous Parkistani family. Supportive mouse model reported.
Sources: Literature
Fetal anomalies v0.2970 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Fetal anomalies v0.2970 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Fetal anomalies v0.2970 OSGEP Zornitza Stark Publications for gene: OSGEP were set to
Fetal anomalies v0.2969 OSGEP Zornitza Stark Classified gene: OSGEP as Green List (high evidence)
Fetal anomalies v0.2969 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Fetal anomalies v0.2968 OSGEP Zornitza Stark changed review comment from: 25 families reported.
Sources: Expert list; to: 25 families reported. IUGR and oligohydramnios are a feature.
Sources: Expert list
Fetal anomalies v0.2968 NUS1 Zornitza Stark Marked gene: NUS1 as ready
Fetal anomalies v0.2968 NUS1 Zornitza Stark Gene: nus1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2968 NUS1 Zornitza Stark Publications for gene: NUS1 were set to 31656175; 29100083; 610463; 25066056
Fetal anomalies v0.2967 NUS1 Zornitza Stark Phenotypes for gene: NUS1 were changed from Epilepsy and intellectual disability to Congenital disorder of glycosylation, type 1aa, MIM#617082
Fetal anomalies v0.2966 NUS1 Zornitza Stark Publications for gene: NUS1 were set to
Fetal anomalies v0.2965 NUS1 Zornitza Stark Mode of inheritance for gene: NUS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2964 NUS1 Zornitza Stark edited their review of gene: NUS1: Added comment: The CDG disorder caused by bi-allelic variants in this gene has iUGR as a feature. Note limited reports (one published, one ClinVar).

The DEE disorder associated with mono-allelic variants typically presents post-natally.; Changed rating: AMBER; Changed phenotypes: Congenital disorder of glycosylation, type 1aa; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2964 NUP88 Zornitza Stark Marked gene: NUP88 as ready
Fetal anomalies v0.2964 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Fetal anomalies v0.2964 NUP88 Zornitza Stark Classified gene: NUP88 as Green List (high evidence)
Fetal anomalies v0.2964 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Fetal anomalies v0.2963 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Fetal anomalies v0.2963 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2963 NUP62 Zornitza Stark Phenotypes for gene: NUP62 were changed from INFANTILE STRIATONIGRAL DEGENERATION to Striatonigral degeneration, infantile, MIM#271930
Fetal anomalies v0.2962 NUP62 Zornitza Stark Classified gene: NUP62 as Red List (low evidence)
Fetal anomalies v0.2962 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2961 NUP62 Zornitza Stark changed review comment from: A neurodegenerative disorder rather than ID.; to: A neurodegenerative disorder with post-natal onset.
Fetal anomalies v0.2961 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Fetal anomalies v0.2961 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2961 NTRK2 Zornitza Stark Phenotypes for gene: NTRK2 were changed from Epilepsy and intellectual disability to Obesity, hyperphagia, and developmental delay, MIM# 613886; Developmental and epileptic encephalopathy 58, MIM# 617830
Fetal anomalies v0.2960 NTRK2 Zornitza Stark Publications for gene: NTRK2 were set to
Fetal anomalies v0.2959 NTRK2 Zornitza Stark Mode of inheritance for gene: NTRK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2958 NTRK2 Zornitza Stark Classified gene: NTRK2 as Red List (low evidence)
Fetal anomalies v0.2958 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2957 NTRK2 Zornitza Stark changed review comment from: Three unrelated individuals reported with this phenotype.
Note recurrent missense in this gene also causes EE.
Sources: Expert list; to: Clinical presentation for both disorders is typically post-natal.

Sources: Expert list
Fetal anomalies v0.2957 NTRK2 Zornitza Stark edited their review of gene: NTRK2: Changed rating: RED; Changed phenotypes: Obesity, hyperphagia, and developmental delay, MIM# 613886, Developmental and epileptic encephalopathy 58, MIM# 617830
Fetal anomalies v0.2957 NSUN2 Zornitza Stark Marked gene: NSUN2 as ready
Fetal anomalies v0.2957 NSUN2 Zornitza Stark Gene: nsun2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2957 NSUN2 Zornitza Stark Phenotypes for gene: NSUN2 were changed from AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 to Mental retardation, autosomal recessive 5, MIM# 611091
Fetal anomalies v0.2956 NSUN2 Zornitza Stark Publications for gene: NSUN2 were set to
Fetal anomalies v0.2955 NSUN2 Zornitza Stark edited their review of gene: NSUN2: Added comment: Low birth weight reported. Microcephaly also reported, age of onset unclear.; Changed rating: AMBER; Changed publications: 22541559, 22541562, 22577224
Fetal anomalies v0.2955 NRXN2 Zornitza Stark Marked gene: NRXN2 as ready
Fetal anomalies v0.2955 NRXN2 Zornitza Stark Gene: nrxn2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2955 NRXN2 Zornitza Stark Phenotypes for gene: NRXN2 were changed from AUTISM to Autism
Fetal anomalies v0.2954 NRXN2 Zornitza Stark Publications for gene: NRXN2 were set to
Fetal anomalies v0.2953 NRXN2 Zornitza Stark Mode of inheritance for gene: NRXN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2952 NRXN2 Zornitza Stark Classified gene: NRXN2 as Red List (low evidence)
Fetal anomalies v0.2952 NRXN2 Zornitza Stark Gene: nrxn2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2951 PDSS2 Ain Roesley reviewed gene: PDSS2: Rating: RED; Mode of pathogenicity: None; Publications: 29032433, 25349199, 17186472, 21723727, 10972372; Phenotypes: Coenzyme Q10 deficiency, primary, 3 MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2951 NDUFV1 Ain Roesley edited their review of gene: NDUFV1: Changed rating: RED
Fetal anomalies v0.2951 PDHX Ain Roesley reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: None; Publications: 20002125 34873726 33092611 30981218 25087164 22766002; Phenotypes: Lacticacidemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2951 TRRAP Krithika Murali gene: TRRAP was added
gene: TRRAP was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism- #618454; multiple congenital anomalies
Review for gene: TRRAP was set to GREEN
Added comment: 13 unrelated individuals reported with a complex syndromic neurodevelopmental disorder associated with malformations that can be detected antenatally. This includes, brain, heart, kidney, urogenital anomalies, abdominal wall hernias, cleft lip/palate
Sources: Literature
Fetal anomalies v0.2951 G6PD Krithika Murali reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: None; Publications: 1316704, 26279483, 18177777, 17825683, 1127504, 7472841; Phenotypes: Haemolytic anaemia, G6PD deficient (300908); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2951 G6PD Krithika Murali Deleted their review
Fetal anomalies v0.2951 G6PD Krithika Murali gene: G6PD was added
gene: G6PD was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: G6PD were set to 1316704; 26279483; 18177777; 17825683; 1127504; 7472841
Phenotypes for gene: G6PD were set to Haemolytic anaemia, G6PD deficient (300908)
Review for gene: G6PD was set to AMBER
Added comment: Well-known association with G6PD deficiency. Borderline red-amber gene for fetal anomalies. However, as features of anaemia can sometimes be detected in fetus antenatally and therapeutic/maternal trigger avoidance options available, I have favoured amber rating.

PMID: 26279483 Keller et al 2015 - report a mother who is a carrier for a G6PD variant (Guadalajara variant) with a family history of a brother and paternal uncle who died as neonates from severe hydrops. She was counselled to avoid substances that could precipitate oxidative stress from 22 weeks gestation onwards. During her first pregnancy, a male fetus was found to have mild cardiomegaly at 31 weeks with elevated MCAPSV - suggestive of anaemia. Intrauterine transfusion instituted. Presence of maternally inherited G6PD variant confirmed in the fetus.

There are other case reports of hydrops fetalis presumed secondary to G6PD deficiency but evidence is limited..

4999390; 1127504 - older studies, no genomic confirmation available.

4999390 Perkins et al 1971 - Mother presumed to be a carrier for G6PD deficiency and all 3 babies presumed to have the same
- 1st child neonatal jaundice with abnormal G6PD test result and death at 59 days of life from undetermined cause
- 2nd pregnancy - mother given sulfizoxazole for UTI during pregnancy, delivered stillborn infant at 36 weeks with hydrops fetalis and severe anaemia
- 3rd child - well, neonatal jaundice and abnormal G6PD test.

Mother O neg blood group, all three babies +ve blood group, DAT -ve and RhoGam given each pregnancy.

1127504 - Mentzer and Collier et al 1975
Male infant died at 2 hours of life with evidence of haemolysis and autopsy findings of hydrops. G6PD screening test in baby abnormal. Mother had low-normal G6PD activity, abnormal ascorbate cyanide test, abnormal MTT cytochemical however no abnormal migrating band of G6PD activity was present on electrophoresis. URTI episode during pregnancy, ascorbic acid consumption and fava bean consumption noted. G6PD deficiency presumed in mother and infant but not genomically confirmed.

23719252; 24999569 - Two case reports identified. However, a second diagnosis was present in both and the G6PD deficiency may have contributed to severity rather than being the primary factor.
Sources: Literature
Fetal anomalies v0.2951 NT5C3A Ain Roesley reviewed gene: NT5C3A: Rating: RED; Mode of pathogenicity: None; Publications: 11369620, 12714505, 30951028, 25153905; Phenotypes: Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2951 NDUFV1 Ain Roesley reviewed gene: NDUFV1: Rating: ; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2951 MYBPC1 Alison Yeung Marked gene: MYBPC1 as ready
Fetal anomalies v0.2951 MYBPC1 Alison Yeung Gene: mybpc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2951 MYBPC1 Alison Yeung Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915
Fetal anomalies v0.2950 MYBPC1 Alison Yeung reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 1B, MIM# 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2950 NDUFS8 Ain Roesley reviewed gene: NDUFS8: Rating: RED; Mode of pathogenicity: None; Publications: 23430795, 9837812, 15159508, 22499348, 20818383, 20819849; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2950 MUSK Alison Yeung Marked gene: MUSK as ready
Fetal anomalies v0.2950 MUSK Alison Yeung Gene: musk has been classified as Green List (High Evidence).
Fetal anomalies v0.2950 MUSK Alison Yeung Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101
Fetal anomalies v0.2949 MUSK Alison Yeung reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: None
Fetal anomalies v0.2949 MTOR Alison Yeung Marked gene: MTOR as ready
Fetal anomalies v0.2949 MTOR Alison Yeung Gene: mtor has been classified as Green List (High Evidence).
Fetal anomalies v0.2949 MTOR Alison Yeung Phenotypes for gene: MTOR were changed from Smith-Kingsmore syndrome to Smith-Kingsmore syndrome, MIM# 616638
Fetal anomalies v0.2948 MTOR Alison Yeung reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Kingsmore syndrome, MIM#616638; Mode of inheritance: None
Fetal anomalies v0.2948 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2948 NDUFS7 Ain Roesley Deleted their review
Fetal anomalies v0.2948 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: 34797029; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2948 NDUFA1 Ain Roesley reviewed gene: NDUFA1: Rating: RED; Mode of pathogenicity: None; Publications: 29506883, 19185523, 17262856, 21596602; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Fetal anomalies v0.2948 MYO5A Ain Roesley reviewed gene: MYO5A: Rating: RED; Mode of pathogenicity: None; Publications: 32275080, 22711375, 25283056; Phenotypes: Griscelli syndrome, type 1 MIM#214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2948 LTBP2 Ain Roesley reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: None; Publications: 19656777, 19361779, 20617341, 32165823, 30380740, 30565850; Phenotypes: Glaucoma 3, primary congenital, D 613086, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2948 MTO1 Alison Yeung Marked gene: MTO1 as ready
Fetal anomalies v0.2948 MTO1 Alison Yeung Gene: mto1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2948 MTO1 Alison Yeung Phenotypes for gene: MTO1 were changed from INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS to Combined oxidative phosphorylation deficiency 10, MIM# 61702
Fetal anomalies v0.2947 MTO1 Alison Yeung reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 10, MIM# 61702; Mode of inheritance: None
Fetal anomalies v0.2947 MSL3 Alison Yeung Marked gene: MSL3 as ready
Fetal anomalies v0.2947 MSL3 Alison Yeung Gene: msl3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2947 MSL3 Alison Yeung Phenotypes for gene: MSL3 were changed from Basilicata-Akhtar syndrome, 301032; MSL3 syndrome to Basilicata-Akhtar syndrome, MIM# 301032
Fetal anomalies v0.2946 MSL3 Alison Yeung reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Basilicata-Akhtar syndrome, MIM# 301032; Mode of inheritance: None
Fetal anomalies v0.2946 LRPPRC Ain Roesley reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 32972427, 26510951, 21266382; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2946 MOCS1 Alison Yeung Marked gene: MOCS1 as ready
Fetal anomalies v0.2946 MOCS1 Alison Yeung Gene: mocs1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2946 MPLKIP Alison Yeung Marked gene: MPLKIP as ready
Fetal anomalies v0.2946 MPLKIP Alison Yeung Gene: mplkip has been classified as Green List (High Evidence).
Fetal anomalies v0.2946 MPLKIP Alison Yeung Phenotypes for gene: MPLKIP were changed from TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013
Fetal anomalies v0.2945 MPLKIP Alison Yeung reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; Mode of inheritance: None
Fetal anomalies v0.2945 MPDU1 Alison Yeung Marked gene: MPDU1 as ready
Fetal anomalies v0.2945 MPDU1 Alison Yeung Gene: mpdu1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2945 MPDU1 Alison Yeung Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211 to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Fetal anomalies v0.2945 MPDU1 Alison Yeung Phenotypes for gene: MPDU1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Fetal anomalies v0.2944 MPDU1 Alison Yeung Added comment: Comment on phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211
Fetal anomalies v0.2944 MPDU1 Alison Yeung Phenotypes for gene: MPDU1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.2943 MPDU1 Alison Yeung commented on gene: MPDU1: Fetal presentation includes microcephaly and severe growth restriction
Fetal anomalies v0.2943 MPDU1 Alison Yeung reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180; Mode of inheritance: None
Fetal anomalies v0.2943 MOCS1 Alison Yeung Phenotypes for gene: MOCS1 were changed from MOLYBDENUM COFACTOR DEFICIENCY to Molybdenum cofactor deficiency A, MIM# 252150
Fetal anomalies v0.2942 MOCS1 Alison Yeung reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2942 MNX1 Alison Yeung Marked gene: MNX1 as ready
Fetal anomalies v0.2942 MNX1 Alison Yeung Gene: mnx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2942 MNX1 Alison Yeung Phenotypes for gene: MNX1 were changed from CURRARINO SYNDROME to Currarino syndrome, MIM# 176450
Fetal anomalies v0.2941 MNX1 Alison Yeung reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Currarino syndrome, MIM# 176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2941 MMP21 Alison Yeung Marked gene: MMP21 as ready
Fetal anomalies v0.2941 MMP21 Alison Yeung Gene: mmp21 has been classified as Green List (High Evidence).
Fetal anomalies v0.2941 MMP21 Alison Yeung Phenotypes for gene: MMP21 were changed from MMP21-associated heterotaxy to Heterotaxy, visceral, 7, autosomal, MIM# 616749
Fetal anomalies v0.2940 MMP21 Alison Yeung reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2940 MLYCD Alison Yeung Marked gene: MLYCD as ready
Fetal anomalies v0.2940 MLYCD Alison Yeung Gene: mlycd has been classified as Green List (High Evidence).
Fetal anomalies v0.2940 MLYCD Alison Yeung Phenotypes for gene: MLYCD were changed from MALONYL-COA DECARBOXYLASE DEFICIENCY to Malonyl-CoA decarboxylase deficiency, MIM# 248360
Fetal anomalies v0.2939 MLYCD Alison Yeung reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2939 LMOD1 Ain Roesley reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28292896; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2939 LEMD3 Ain Roesley reviewed gene: LEMD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Buschke-Ollendorff syndrome MIM#166700, Osteopoikilosis with or without melorheostosis MIM#166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2939 ITPR1 Ain Roesley reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Spinocerebellar ataxia 15 MIM#606658, Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360, Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2939 STAT5B Zornitza Stark Marked gene: STAT5B as ready
Fetal anomalies v0.2939 STAT5B Zornitza Stark Gene: stat5b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2939 STAT5B Zornitza Stark Phenotypes for gene: STAT5B were changed from GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590
Fetal anomalies v0.2938 STAT5B Zornitza Stark reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2938 STAC3 Zornitza Stark Marked gene: STAC3 as ready
Fetal anomalies v0.2938 STAC3 Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2938 STAC3 Zornitza Stark Publications for gene: STAC3 were set to 30168660
Fetal anomalies v0.2937 STAC3 Zornitza Stark Classified gene: STAC3 as Green List (high evidence)
Fetal anomalies v0.2937 STAC3 Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2936 ST3GAL3 Zornitza Stark Marked gene: ST3GAL3 as ready
Fetal anomalies v0.2936 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2936 ST3GAL3 Zornitza Stark Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 to Mental retardation, autosomal recessive 12 MIM# 611090; Developmental and epileptic encephalopathy 15, MIM# 615006
Fetal anomalies v0.2935 ST3GAL3 Zornitza Stark Publications for gene: ST3GAL3 were set to
Fetal anomalies v0.2934 ST3GAL3 Zornitza Stark Classified gene: ST3GAL3 as Red List (low evidence)
Fetal anomalies v0.2934 ST3GAL3 Zornitza Stark Gene: st3gal3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2933 ST3GAL3 Zornitza Stark changed review comment from: PMID: 31584066 reports on two di-chorionic infant twins p.Y220*, presenting with epileptic encephalopathy with impaired neuromotor development.; to: Clinical presentation is typically post-natal.
Fetal anomalies v0.2933 ST3GAL3 Zornitza Stark edited their review of gene: ST3GAL3: Changed rating: RED; Changed phenotypes: Mental retardation, autosomal recessive 12 MIM# 611090, Developmental and epileptic encephalopathy 15, MIM# 615006
Fetal anomalies v0.2933 SPECC1L Zornitza Stark Marked gene: SPECC1L as ready
Fetal anomalies v0.2933 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Fetal anomalies v0.2933 SPECC1L Zornitza Stark Phenotypes for gene: SPECC1L were changed from ?Facial clefting, oblique, 1, OMIM:600251; Hypertelorism, Teebi type, MONDO:0007780; Opitz GBBB syndrome, type II, OMIM:145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779; Tessier number 4 facial cleft, MONDO:0010850; Hypertelorism, Teebi type, OMIM:145420 to Opitz GBBB syndrome, type II, MIM# 145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779
Fetal anomalies v0.2932 SPECC1L Zornitza Stark Publications for gene: SPECC1L were set to
Fetal anomalies v0.2931 SPECC1L Zornitza Stark Mode of inheritance for gene: SPECC1L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2930 SPECC1L Zornitza Stark Classified gene: SPECC1L as Green List (high evidence)
Fetal anomalies v0.2930 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Fetal anomalies v0.2929 SP7 Zornitza Stark Marked gene: SP7 as ready
Fetal anomalies v0.2929 SP7 Zornitza Stark Gene: sp7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2929 SP7 Zornitza Stark Classified gene: SP7 as Red List (low evidence)
Fetal anomalies v0.2929 SP7 Zornitza Stark Gene: sp7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2928 SP7 Zornitza Stark reviewed gene: SP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XII, MIM# 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2928 SOX6 Zornitza Stark Marked gene: SOX6 as ready
Fetal anomalies v0.2928 SOX6 Zornitza Stark Gene: sox6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2928 SOX6 Zornitza Stark Publications for gene: SOX6 were set to
Fetal anomalies v0.2927 SOX6 Zornitza Stark Mode of inheritance for gene: SOX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2926 SOX6 Zornitza Stark Classified gene: SOX6 as Green List (high evidence)
Fetal anomalies v0.2926 SOX6 Zornitza Stark Gene: sox6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2925 SOX6 Zornitza Stark changed review comment from: Comment when marking as ready: Most individuals had ID, ranging from mild to severe.; to: Comment when marking as ready: Congenital anomalies, in particular craniosynostosis.
Fetal anomalies v0.2925 SOX5 Zornitza Stark Marked gene: SOX5 as ready
Fetal anomalies v0.2925 SOX5 Zornitza Stark Gene: sox5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2925 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY to Lamb-Shaffer syndrome, MIM#616803
Fetal anomalies v0.2924 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Fetal anomalies v0.2923 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2922 SOX5 Zornitza Stark Classified gene: SOX5 as Red List (low evidence)
Fetal anomalies v0.2922 SOX5 Zornitza Stark Gene: sox5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2921 SOX5 Zornitza Stark changed review comment from: Comment when marking as ready: Note many cases reported of intragenic deletion.; to: Comment when marking as ready: Note many cases reported of intragenic deletion.

Presentation is typically post-natal.
Fetal anomalies v0.2921 SOX5 Zornitza Stark edited their review of gene: SOX5: Changed rating: RED
Fetal anomalies v0.2921 SOX18 Zornitza Stark Marked gene: SOX18 as ready
Fetal anomalies v0.2921 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Fetal anomalies v0.2921 SOX18 Zornitza Stark Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073; Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823 to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Fetal anomalies v0.2920 SOX18 Zornitza Stark Publications for gene: SOX18 were set to
Fetal anomalies v0.2919 SOX18 Zornitza Stark Classified gene: SOX18 as Green List (high evidence)
Fetal anomalies v0.2919 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Fetal anomalies v0.2918 SNRPE Zornitza Stark Marked gene: SNRPE as ready
Fetal anomalies v0.2918 SNRPE Zornitza Stark Gene: snrpe has been classified as Red List (Low Evidence).
Fetal anomalies v0.2918 SNRPE Zornitza Stark Phenotypes for gene: SNRPE were changed from AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX to Hypotrichosis 11, MIM #615059
Fetal anomalies v0.2917 SNRPE Zornitza Stark Mode of inheritance for gene: SNRPE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2916 SNRPE Zornitza Stark Classified gene: SNRPE as Red List (low evidence)
Fetal anomalies v0.2916 SNRPE Zornitza Stark Gene: snrpe has been classified as Red List (Low Evidence).
Fetal anomalies v0.2915 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Fetal anomalies v0.2915 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Fetal anomalies v0.2915 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to 28388629; 21073448; 15968592
Fetal anomalies v0.2914 SNAP29 Zornitza Stark Classified gene: SNAP29 as Green List (high evidence)
Fetal anomalies v0.2914 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Fetal anomalies v0.2913 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Fetal anomalies v0.2913 SNAP25 Zornitza Stark Gene: snap25 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2913 SNAP25 Zornitza Stark Phenotypes for gene: SNAP25 were changed from Epilepsy and intellectual disability to Myasthenic syndrome, congenital, 18, MIM# 616330; Developmental and epileptic encephalopathy
Fetal anomalies v0.2912 SNAP25 Zornitza Stark Publications for gene: SNAP25 were set to
Fetal anomalies v0.2911 SNAP25 Zornitza Stark Mode of inheritance for gene: SNAP25 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2910 SNAP25 Zornitza Stark reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: None; Publications: 25381298; Phenotypes: Myasthenic syndrome, congenital, 18, MIM# 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2910 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Fetal anomalies v0.2910 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2910 SMPD4 Zornitza Stark Classified gene: SMPD4 as Green List (high evidence)
Fetal anomalies v0.2910 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2909 SMG9 Zornitza Stark Marked gene: SMG9 as ready
Fetal anomalies v0.2909 SMG9 Zornitza Stark Gene: smg9 has been classified as Green List (High Evidence).
Fetal anomalies v0.2909 SMG9 Zornitza Stark Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, 616920; SMG9 Multiple Congenital Anomaly Syndrome to Heart and brain malformation syndrome, MIM# 616920
Fetal anomalies v0.2908 SMG9 Zornitza Stark Classified gene: SMG9 as Green List (high evidence)
Fetal anomalies v0.2908 SMG9 Zornitza Stark Gene: smg9 has been classified as Green List (High Evidence).
Fetal anomalies v0.2907 SMG9 Zornitza Stark changed review comment from: Three unrelated families reported, severe congenital malformation syndrome, ID is part of the phenotype in survivors.
Sources: Expert list; to: Three unrelated families reported, severe congenital malformation syndrome.
Sources: Expert list
Fetal anomalies v0.2907 SMARCC1 Zornitza Stark Marked gene: SMARCC1 as ready
Fetal anomalies v0.2907 SMARCC1 Zornitza Stark Gene: smarcc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2907 SMARCC1 Zornitza Stark Classified gene: SMARCC1 as Green List (high evidence)
Fetal anomalies v0.2907 SMARCC1 Zornitza Stark Gene: smarcc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2906 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Fetal anomalies v0.2906 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Fetal anomalies v0.2906 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to 27569547; 31299140
Fetal anomalies v0.2905 SLC5A7 Zornitza Stark Classified gene: SLC5A7 as Green List (high evidence)
Fetal anomalies v0.2905 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Fetal anomalies v0.2904 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Fetal anomalies v0.2904 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2904 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Fetal anomalies v0.2903 SLC29A3 Zornitza Stark Classified gene: SLC29A3 as Green List (high evidence)
Fetal anomalies v0.2903 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2902 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Fetal anomalies v0.2902 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2902 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184
Fetal anomalies v0.2901 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to
Fetal anomalies v0.2900 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2899 SLC25A4 Zornitza Stark Classified gene: SLC25A4 as Green List (high evidence)
Fetal anomalies v0.2899 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2898 SLC25A4 Zornitza Stark changed review comment from: Variants in this gene cause both dominant and recessive disease. MIM#617184 reported as causing profound hypotonia and frequent need for respiratory support; the other two conditions, one AR and the other AD, appear less severe. Not convinced ID is an intrinsic part of the phenotype.; to: Variants in this gene cause both dominant and recessive disease. MIM#617184 reported as causing profound hypotonia and frequent need for respiratory support; the other two conditions, one AR and the other AD, appear less severe.
Fetal anomalies v0.2898 SLC25A4 Zornitza Stark edited their review of gene: SLC25A4: Added comment: Hypertrophic cardiomyopathy is an early feature.; Changed rating: GREEN; Changed phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2898 SLC1A2 Zornitza Stark Marked gene: SLC1A2 as ready
Fetal anomalies v0.2898 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2898 SLC1A2 Zornitza Stark Phenotypes for gene: SLC1A2 were changed from Developmental and epileptic encephalopathy 41 617105 to Developmental and epileptic encephalopathy 41, MIM# 617105
Fetal anomalies v0.2897 SLC1A2 Zornitza Stark Phenotypes for gene: SLC1A2 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 41 617105
Fetal anomalies v0.2896 SLC1A2 Zornitza Stark Publications for gene: SLC1A2 were set to
Fetal anomalies v0.2895 SLC1A2 Zornitza Stark Mode of inheritance for gene: SLC1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2894 SLC1A2 Zornitza Stark Classified gene: SLC1A2 as Red List (low evidence)
Fetal anomalies v0.2894 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2893 SLC1A2 Zornitza Stark edited their review of gene: SLC1A2: Changed rating: RED
Fetal anomalies v0.2893 SLC1A2 Zornitza Stark changed review comment from: Four unrelated individuals reported.
Sources: Expert list; to: Four unrelated individuals reported. Post-natal presentation.
Sources: Expert list
Fetal anomalies v0.2893 SLC18A3 Zornitza Stark Marked gene: SLC18A3 as ready
Fetal anomalies v0.2893 SLC18A3 Zornitza Stark Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2893 SLC18A3 Zornitza Stark Publications for gene: SLC18A3 were set to 31059209
Fetal anomalies v0.2892 UROS Krithika Murali gene: UROS was added
gene: UROS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROS were set to 34187847; 34828434; 15065102
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic - MIM#263700; hydrops fetalis; multiple congenital anomalies
Review for gene: UROS was set to GREEN
Added comment: Biallelic variants associated with congenital erytropoietic porphyria (CEP).

PMID 34187847 Khalouaoui A et al 2021 report one infant with CEP secondary to homozygous UROS variants. Prenatal ultrasound at 25 weeks of gestation revealed an increased nuchal translucency and myocardial hypertrophy.

PMID: 34828434 Arnaud et al 2021 - report one fetus miscarried in the 2nd trimester with 22 weeks ultrasound showing hyperechogenic small intestine with short femurs. Subsequent pregnancy MTOP after antenatal USS showed hygroma coli, ascites, short femurs, double outlet right ventricle. Genomic sequencing on stored fetal DNA samples confirmed homozygous UROS p.Cys73Arg variants in both fetuses.

PMID 15065102 Lazebnik et al 2004 reported the prenatal findings of two siblings with CEP secondary to homozygous pathogenic C73R variants. 1st child - USS at 17.5 weeks gestation showed increased nuchal thickness (9.7mm) with mild ascites, pericardial effusion, and skin oedema which persisted on subsequent scans. 2nd child - 16 week USS showed increased nuchal thickness (8.7mm) with scalp oedema, ascites, pericardial effusion, skin oedema and hepatomegaly.

Other cases with antenatal features, particularly non-immune hydrops, secondary to suspected CEP reported but not confirmed molecularly.
Sources: Literature
Fetal anomalies v0.2892 MVK Krithika Murali gene: MVK was added
gene: MVK was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807; 16722536
Phenotypes for gene: MVK were set to Mevalonic aciduria-#610377; Hyper-IgD syndrome - #260920
Review for gene: MVK was set to GREEN
Added comment: Biallelic MVK variants associated with mevalonate kinate deficiencies - an overlapping spectrum of phenotypes includes mevalonic aciduria (MVA) on the severe end and hyper-IgD syndrome (HIDS) generally having a less severe clinical course and later diagnosis.

Fetal manifestations of MVA reported include microcephaly and hydrops fetalis.
Sources: Literature
Fetal anomalies v0.2892 LAMB2 Krithika Murali gene: LAMB2 was added
gene: LAMB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 16450351
Phenotypes for gene: LAMB2 were set to Pierson syndrome-MIM#609049; Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199
Review for gene: LAMB2 was set to AMBER
Added comment: Biallelic variants associated with Pierson syndrome. Phenotypic features include congenital nephrotic syndrome, ocular anomalies including microcoria. Most affected individuals die early from renal disease with survivors tending to have ID/visual loss.

Prenatal features reported in 1 consanguineous Turkish family with 4 pregnancies affected by Pierson syndrome. Antenatal ultrasound features noted include:
- 2/4 homogenous hyperechogenicity of the kidneys similar to bone tissue
- 2/4 enlargement of fetal kidneys
- 2/4 bilateral pyelectasis
- 1/4 oligohydramnios --> anhydramnios
- 1/4 hydrops
- 1/4 ancencephaly

All 4 fetuses had ultrasound anomalies. Anencephaly seen in the 4th pregnancy noted at 11 weeks resulting in MTOP. Homozygosity for LAMB2 variant confirmed. PM showed that kidneys were appropriate for gestational age. I could not find another case report of anencephaly with Pierson syndrome, this may be an incidental finding.
Sources: Literature
Fetal anomalies v0.2892 HS2ST1 Zornitza Stark Marked gene: HS2ST1 as ready
Fetal anomalies v0.2892 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2892 HS2ST1 Zornitza Stark Classified gene: HS2ST1 as Green List (high evidence)
Fetal anomalies v0.2892 HS2ST1 Zornitza Stark Gene: hs2st1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2891 FLNC Zornitza Stark Marked gene: FLNC as ready
Fetal anomalies v0.2891 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Fetal anomalies v0.2891 FLNC Zornitza Stark Phenotypes for gene: FLNC were changed from Arthrogryposis; congenital myopathy; Cardiomyopathy, familial restrictive 5 - MIM #617047; Cardiomyopathy, familial hypertrophic, 26 -MIM# 617047; Myopathy, distal, 4 - #614065; Myopathy, myofibrillar, 5 - MIM#609524 to Arthrogryposis; congenital myopathy; Myopathy, myofibrillar, 5 - MIM#609524
Fetal anomalies v0.2890 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Fetal anomalies v0.2890 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Fetal anomalies v0.2889 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Fetal anomalies v0.2888 MKKS Zornitza Stark Publications for gene: MKKS were set to
Fetal anomalies v0.2887 MFRP Zornitza Stark Phenotypes for gene: MFRP were changed from MICROPHTHALMIA ISOLATED TYPE 5; NANOPHTHALMOS 2 to Microphthalmia, isolated 5, MIM# 611040
Fetal anomalies v0.2886 MFRP Zornitza Stark Publications for gene: MFRP were set to
Fetal anomalies v0.2885 MFRP Zornitza Stark Deleted their review
Fetal anomalies v0.2885 IQCB1 Zornitza Stark Deleted their review
Fetal anomalies v0.2885 IARS Zornitza Stark Publications for gene: IARS were set to 27426735
Fetal anomalies v0.2884 SIX6 Zornitza Stark Marked gene: SIX6 as ready
Fetal anomalies v0.2884 SIX6 Zornitza Stark Gene: six6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2884 SIX6 Zornitza Stark Publications for gene: SIX6 were set to
Fetal anomalies v0.2883 SIX6 Zornitza Stark changed review comment from: Four unrelated families and a dog model.; to: Four unrelated families and a dog model. Microphthalmia in some individuals, otherwise features would not generally be detectable ante-natally.
Fetal anomalies v0.2883 SIX6 Zornitza Stark edited their review of gene: SIX6: Changed rating: AMBER
Fetal anomalies v0.2883 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Fetal anomalies v0.2883 SHANK3 Zornitza Stark Gene: shank3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2883 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Fetal anomalies v0.2882 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2881 SHANK3 Zornitza Stark Classified gene: SHANK3 as Red List (low evidence)
Fetal anomalies v0.2881 SHANK3 Zornitza Stark Gene: shank3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2880 SHANK3 Zornitza Stark changed review comment from: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features. Well established gene-disease association, deletions are common.; to: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features. Well established gene-disease association, deletions are common.

Clinical presentation is typically post-natal.
Fetal anomalies v0.2880 SHANK3 Zornitza Stark edited their review of gene: SHANK3: Changed rating: RED
Fetal anomalies v0.2880 SHANK1 Zornitza Stark Marked gene: SHANK1 as ready
Fetal anomalies v0.2880 SHANK1 Zornitza Stark Gene: shank1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2880 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from AUTISM to Neurodevelopmental disorder, MONDO:0700092, SHANK1-related
Fetal anomalies v0.2879 SHANK1 Zornitza Stark Publications for gene: SHANK1 were set to
Fetal anomalies v0.2878 SHANK1 Zornitza Stark Mode of inheritance for gene: SHANK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2877 SHANK1 Zornitza Stark Classified gene: SHANK1 as Red List (low evidence)
Fetal anomalies v0.2877 SHANK1 Zornitza Stark Gene: shank1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2876 SHANK1 Zornitza Stark reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SHANK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2876 SGSH Zornitza Stark Marked gene: SGSH as ready
Fetal anomalies v0.2876 SGSH Zornitza Stark Gene: sgsh has been classified as Red List (Low Evidence).
Fetal anomalies v0.2876 SGSH Zornitza Stark Phenotypes for gene: SGSH were changed from MUCOPOLYSACCHARIDOSIS TYPE 3A to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; MONDO:0009655
Fetal anomalies v0.2875 SGSH Zornitza Stark Publications for gene: SGSH were set to
Fetal anomalies v0.2874 SGSH Zornitza Stark Classified gene: SGSH as Red List (low evidence)
Fetal anomalies v0.2874 SGSH Zornitza Stark Gene: sgsh has been classified as Red List (Low Evidence).
Fetal anomalies v0.2873 SGSH Zornitza Stark edited their review of gene: SGSH: Changed rating: RED
Fetal anomalies v0.2873 SETD2 Zornitza Stark Marked gene: SETD2 as ready
Fetal anomalies v0.2873 SETD2 Zornitza Stark Gene: setd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2873 SETD2 Zornitza Stark Phenotypes for gene: SETD2 were changed from SETD2-associated Overgrowth Syndrome to Luscan-Lumish syndrome, MIM#616831
Fetal anomalies v0.2872 SETD2 Zornitza Stark Publications for gene: SETD2 were set to
Fetal anomalies v0.2871 SETD2 Zornitza Stark Mode of inheritance for gene: SETD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2870 SETD2 Zornitza Stark Classified gene: SETD2 as Green List (high evidence)
Fetal anomalies v0.2870 SETD2 Zornitza Stark Gene: setd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2869 SETD2 Zornitza Stark changed review comment from: Multiple affected individuals with macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures; to: Multiple affected individuals with macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures.

Chiari malformation and ventriculomegaly reported.
Fetal anomalies v0.2869 SETD1A Zornitza Stark Marked gene: SETD1A as ready
Fetal anomalies v0.2869 SETD1A Zornitza Stark Gene: setd1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2869 SETD1A Zornitza Stark Phenotypes for gene: SETD1A were changed from INTELLECTUAL DISABILITY to Epilepsy, early-onset, with or without developmental delay, MIM# 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Fetal anomalies v0.2868 SETD1A Zornitza Stark Publications for gene: SETD1A were set to
Fetal anomalies v0.2867 SETD1A Zornitza Stark Mode of inheritance for gene: SETD1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2866 SETD1A Zornitza Stark Classified gene: SETD1A as Red List (low evidence)
Fetal anomalies v0.2866 SETD1A Zornitza Stark Gene: setd1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2865 SETD1A Zornitza Stark changed review comment from: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.

In addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.; to: OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.

In addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.

Presentation of both disorders is typically post-natal.
Fetal anomalies v0.2865 SETD1A Zornitza Stark edited their review of gene: SETD1A: Changed rating: RED
Fetal anomalies v0.2865 SECISBP2 Zornitza Stark Marked gene: SECISBP2 as ready
Fetal anomalies v0.2865 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2865 SECISBP2 Zornitza Stark Phenotypes for gene: SECISBP2 were changed from THYROID HORMONE METABOLISM, ABNORMAL to Thyroid hormone metabolism, abnormal, MIM# 609698
Fetal anomalies v0.2864 SECISBP2 Zornitza Stark Publications for gene: SECISBP2 were set to
Fetal anomalies v0.2863 SECISBP2 Zornitza Stark Classified gene: SECISBP2 as Red List (low evidence)
Fetal anomalies v0.2863 SECISBP2 Zornitza Stark Gene: secisbp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2862 SECISBP2 Zornitza Stark reviewed gene: SECISBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone metabolism, abnormal, MIM# 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2862 SEC24D Zornitza Stark Marked gene: SEC24D as ready
Fetal anomalies v0.2862 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Fetal anomalies v0.2862 SEC24D Zornitza Stark Phenotypes for gene: SEC24D were changed from SYNDROMIC OSTEOGENESIS IMPERFECTA to Cole-Carpenter syndrome 2, MIM# 616294
Fetal anomalies v0.2861 SEC24D Zornitza Stark Publications for gene: SEC24D were set to
Fetal anomalies v0.2860 SEC24D Zornitza Stark Classified gene: SEC24D as Green List (high evidence)
Fetal anomalies v0.2860 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Fetal anomalies v0.2859 SCN3A Zornitza Stark Marked gene: SCN3A as ready
Fetal anomalies v0.2859 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Fetal anomalies v0.2859 SCN3A Zornitza Stark Phenotypes for gene: SCN3A were changed from Focal epilepsy to Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development
Fetal anomalies v0.2858 SCN3A Zornitza Stark Publications for gene: SCN3A were set to
Fetal anomalies v0.2857 SCN3A Zornitza Stark Mode of pathogenicity for gene: SCN3A was changed from to Other
Fetal anomalies v0.2856 SCN3A Zornitza Stark Mode of inheritance for gene: SCN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2855 SCN3A Zornitza Stark Classified gene: SCN3A as Green List (high evidence)
Fetal anomalies v0.2855 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Fetal anomalies v0.2854 SCLT1 Zornitza Stark Marked gene: SCLT1 as ready
Fetal anomalies v0.2854 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2854 SCLT1 Zornitza Stark Phenotypes for gene: SCLT1 were changed from Senior-L ken Syndrome; No OMIM phenotype; Oro-facio-digital syndrome type IX to Orofaciodigital syndrome type IX; Senior-Loken syndrome; Bardet-Biedl syndrome
Fetal anomalies v0.2853 SCLT1 Zornitza Stark Publications for gene: SCLT1 were set to 28486600; 30425282; 23348840; 24285566; 28005958
Fetal anomalies v0.2852 SCLT1 Zornitza Stark Classified gene: SCLT1 as Green List (high evidence)
Fetal anomalies v0.2852 SCLT1 Zornitza Stark Gene: sclt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2851 SCLT1 Zornitza Stark changed review comment from: Established ciliopathy gene but no clear association with ciliopathy/JS-type structural brain abnormalities.; to: Established ciliopathy gene.
Fetal anomalies v0.2851 SCLT1 Zornitza Stark edited their review of gene: SCLT1: Changed rating: GREEN
Fetal anomalies v0.2851 SASS6 Zornitza Stark Marked gene: SASS6 as ready
Fetal anomalies v0.2851 SASS6 Zornitza Stark Gene: sass6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2851 SASS6 Zornitza Stark Phenotypes for gene: SASS6 were changed from ?Microcephaly 14, primary, autosomal recessive 616402 to Microcephaly 14, primary, autosomal recessive, MIM# 616402
Fetal anomalies v0.2850 SASS6 Zornitza Stark Publications for gene: SASS6 were set to 24951542
Fetal anomalies v0.2849 HS2ST1 Krithika Murali gene: HS2ST1 was added
gene: HS2ST1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Neurofacioskeletal syndrome with or without renal agenesis-MIM#619194; multiple congenital anomalies; arthrogryposis
Review for gene: HS2ST1 was set to GREEN
Added comment: PMID 33159882 - Scheenberger et al 2020

Biallelic HS2ST1 variants associated with disease reported in 4 affected individuals from 3 unrelated families, including one affected fetus with arthrogryposis, skeletal anomalies, bilateral renal agenesis. Other congenital anomalies reported include agenesis or hypoplasia of the corpus callosum.
Sources: Literature
Fetal anomalies v0.2849 SACS Zornitza Stark Marked gene: SACS as ready
Fetal anomalies v0.2849 SACS Zornitza Stark Gene: sacs has been classified as Red List (Low Evidence).
Fetal anomalies v0.2849 SACS Zornitza Stark Phenotypes for gene: SACS were changed from SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Fetal anomalies v0.2848 SACS Zornitza Stark Publications for gene: SACS were set to
Fetal anomalies v0.2847 SACS Zornitza Stark Classified gene: SACS as Red List (low evidence)
Fetal anomalies v0.2847 SACS Zornitza Stark Gene: sacs has been classified as Red List (Low Evidence).
Fetal anomalies v0.2846 SACS Zornitza Stark changed review comment from: ID has only been reported in a minority of individuals; predominantly a motor phenotype.; to: Progressive condition, onset in infancy/childhood.
Fetal anomalies v0.2846 SACS Zornitza Stark edited their review of gene: SACS: Changed rating: RED
Fetal anomalies v0.2846 FLNC Krithika Murali changed review comment from: ClinGen definitive gene-disease validation for myofibrillar myopathy type 5 and dilated cardiomyopathy. Predominantly adult onset phenotype, AD inheritance. 4 unrelated cases with likely de novo FLNC variants presenting with congenital myopathy and arthrogryposis have also been reported which are features amenable to antenatal detection.

PMID 29858533 Kiselev et al reported 4 unrelated patients with early onset myopathy and restrictive cardiomyopathy. 3/4 also presented with arthrogryposis.

x1 patient required delivery via CS due to breech presentation and at birth was noted to have arthrogryposis and hip dysplasia - de novo FLNC variant confirmed. RCM diagnosed age 2

x1 patient noted to have IUGR in a pregnancy complicated by pre-eclampsia. At birth was noted to have arthrogryposis, hip subluxation and abdominal wall weakness with herniation. RCM diagnosed age 6 months. Variant not present in unaffected mother, paternal DNA unavailable.

x1 patient required CS delivery due to insufficient rotation in birth canal. Noted to have arthrogryposis at birth. Variant confirmed to be de novo

x1 patient presented with muscle weakness first year of life, RCM age 3. Parents declined genetic testing.

---
Other cases of interest

PMID 30260051 Schubert et al 2018 - report two restrictive cardiomyopathy families with childhood onset disease with age 1 being the earliest age of diagnosis in a DCDA monozygotic twin who was also diagnosed with a small VSD perinatally. Both twins were also noted to have extra-cardiac manifestations at the time of diagnosis including developmental delay, hypotonia, dysmorphic facial features, and clasped thumbs with onset of kidney dysfunction age 3 post-cardiac transplant.

PMID: 32516863 – Kolbel et al 2020 report one neonate with homozygous FLNC variant c.1325C>G (p.Pro442Arg). Absent from gnomad. Presented with weak suck first month of life with subsequent motor development delay, generalised muscular hypotonia, contractures. Variant confirmed in both unaffected parents. Authors postulate this is a novel case of homozygous FLNC variants associated with congenital presentation. This is a single case report, only heterozygous variants reported so far including in congenital presentations, both parents with het variants unaffected. Possibility of an alternative genetic explanation for this patient's presentation not excluded.
Sources: Literature; to: ClinGen definitive gene-disease validation for myofibrillar myopathy type 5 and dilated cardiomyopathy. Predominantly adult onset phenotype, AD inheritance. 4 unrelated cases with likely de novo FLNC variants presenting with congenital myopathy and arthrogryposis have also been reported. These features/complications of these features are amenable to antenatal detection.

PMID 29858533 Kiselev et al reported 4 unrelated patients with early onset myopathy and restrictive cardiomyopathy. 3/4 also presented with arthrogryposis.

x1 patient required delivery via CS due to breech presentation and at birth was noted to have arthrogryposis and hip dysplasia - de novo FLNC variant confirmed. RCM diagnosed age 2

x1 patient noted to have IUGR in a pregnancy complicated by pre-eclampsia. At birth was noted to have arthrogryposis, hip subluxation and abdominal wall weakness with herniation. RCM diagnosed age 6 months. Variant not present in unaffected mother, paternal DNA unavailable.

x1 patient required CS delivery due to insufficient rotation in birth canal. Noted to have arthrogryposis at birth. Variant confirmed to be de novo

x1 patient presented with muscle weakness first year of life, RCM age 3. Parents declined genetic testing.

---
Other cases of interest

PMID 30260051 Schubert et al 2018 - report two restrictive cardiomyopathy families with childhood onset disease with age 1 being the earliest age of diagnosis in a DCDA monozygotic twin who was also diagnosed with a small VSD perinatally. Both twins were also noted to have extra-cardiac manifestations at the time of diagnosis including developmental delay, hypotonia, dysmorphic facial features, and clasped thumbs with onset of kidney dysfunction age 3 post-cardiac transplant.

PMID: 32516863 – Kolbel et al 2020 report one neonate with homozygous FLNC variant c.1325C>G (p.Pro442Arg). Absent from gnomad. Presented with weak suck first month of life with subsequent motor development delay, generalised muscular hypotonia, contractures. Variant confirmed in both unaffected parents. Authors postulate this is a novel case of homozygous FLNC variants associated with congenital presentation. This is a single case report, only heterozygous variants reported so far including in congenital presentations, both parents with het variants unaffected. Possibility of an alternative genetic explanation for this patient's presentation not excluded.
Sources: Literature
Fetal anomalies v0.2846 FLNC Krithika Murali gene: FLNC was added
gene: FLNC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to 29858533; 30260051; 32516863
Phenotypes for gene: FLNC were set to Arthrogryposis; congenital myopathy; Cardiomyopathy, familial restrictive 5 - MIM #617047; Cardiomyopathy, familial hypertrophic, 26 -MIM# 617047; Myopathy, distal, 4 - #614065; Myopathy, myofibrillar, 5 - MIM#609524
Review for gene: FLNC was set to GREEN
Added comment: ClinGen definitive gene-disease validation for myofibrillar myopathy type 5 and dilated cardiomyopathy. Predominantly adult onset phenotype, AD inheritance. 4 unrelated cases with likely de novo FLNC variants presenting with congenital myopathy and arthrogryposis have also been reported which are features amenable to antenatal detection.

PMID 29858533 Kiselev et al reported 4 unrelated patients with early onset myopathy and restrictive cardiomyopathy. 3/4 also presented with arthrogryposis.

x1 patient required delivery via CS due to breech presentation and at birth was noted to have arthrogryposis and hip dysplasia - de novo FLNC variant confirmed. RCM diagnosed age 2

x1 patient noted to have IUGR in a pregnancy complicated by pre-eclampsia. At birth was noted to have arthrogryposis, hip subluxation and abdominal wall weakness with herniation. RCM diagnosed age 6 months. Variant not present in unaffected mother, paternal DNA unavailable.

x1 patient required CS delivery due to insufficient rotation in birth canal. Noted to have arthrogryposis at birth. Variant confirmed to be de novo

x1 patient presented with muscle weakness first year of life, RCM age 3. Parents declined genetic testing.

---
Other cases of interest

PMID 30260051 Schubert et al 2018 - report two restrictive cardiomyopathy families with childhood onset disease with age 1 being the earliest age of diagnosis in a DCDA monozygotic twin who was also diagnosed with a small VSD perinatally. Both twins were also noted to have extra-cardiac manifestations at the time of diagnosis including developmental delay, hypotonia, dysmorphic facial features, and clasped thumbs with onset of kidney dysfunction age 3 post-cardiac transplant.

PMID: 32516863 – Kolbel et al 2020 report one neonate with homozygous FLNC variant c.1325C>G (p.Pro442Arg). Absent from gnomad. Presented with weak suck first month of life with subsequent motor development delay, generalised muscular hypotonia, contractures. Variant confirmed in both unaffected parents. Authors postulate this is a novel case of homozygous FLNC variants associated with congenital presentation. This is a single case report, only heterozygous variants reported so far including in congenital presentations, both parents with het variants unaffected. Possibility of an alternative genetic explanation for this patient's presentation not excluded.
Sources: Literature
Fetal anomalies v0.2846 MKS1 Alison Yeung Marked gene: MKS1 as ready
Fetal anomalies v0.2846 MKS1 Alison Yeung Gene: mks1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2846 MKS1 Alison Yeung Phenotypes for gene: MKS1 were changed from MECKEL SYNDROME TYPE 1; BARDET-BIEDL SYNDROME TYPE 13 to Joubert syndrome 28, MIM# 617121; MONDO:0014928; Meckel syndrome 1, MIM# 249000; MONDO:0009571
Fetal anomalies v0.2845 MKKS Alison Yeung Marked gene: MKKS as ready
Fetal anomalies v0.2845 MKKS Alison Yeung Gene: mkks has been classified as Green List (High Evidence).
Fetal anomalies v0.2845 MKKS Alison Yeung Phenotypes for gene: MKKS were changed from BARDET-BIEDL SYNDROME TYPE 6; MCKUSICK-KAUFMAN SYNDROME to McKusick-Kaufman syndrome, MIM# 236700; Bardet-Biedl syndrome 6, MIM# 605231
Fetal anomalies v0.2844 MGP Alison Yeung Marked gene: MGP as ready
Fetal anomalies v0.2844 MGP Alison Yeung Gene: mgp has been classified as Green List (High Evidence).
Fetal anomalies v0.2844 MGP Alison Yeung Phenotypes for gene: MGP were changed from KEUTEL SYNDROME to Keutel syndrome, MIM #245150
Fetal anomalies v0.2843 MGP Alison Yeung reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2843 MTM1 Alison Yeung Marked gene: MTM1 as ready
Fetal anomalies v0.2843 MTM1 Alison Yeung Gene: mtm1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2843 MTM1 Alison Yeung Phenotypes for gene: MTM1 were changed from MYOTUBULAR MYOPATHY, X-LINKED to Myotubular myopathy, X-linked, MIM# 310400
Fetal anomalies v0.2842 MTM1 Alison Yeung reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2842 MFSD2A Alison Yeung Marked gene: MFSD2A as ready
Fetal anomalies v0.2842 MFSD2A Alison Yeung Gene: mfsd2a has been classified as Green List (High Evidence).
Fetal anomalies v0.2842 MFSD2A Alison Yeung Phenotypes for gene: MFSD2A were changed from Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, MIM# 616486
Fetal anomalies v0.2841 MFRP Alison Yeung Marked gene: MFRP as ready
Fetal anomalies v0.2841 MFRP Alison Yeung Gene: mfrp has been classified as Red List (Low Evidence).
Fetal anomalies v0.2841 MFRP Alison Yeung Classified gene: MFRP as Red List (low evidence)
Fetal anomalies v0.2841 MFRP Alison Yeung Added comment: Comment on list classification: Ocular anomalies not detectable on US. No extra-ocular fetal anomalies reported. Marked as Red for fetal anomalies gene panel
Fetal anomalies v0.2841 MFRP Alison Yeung Gene: mfrp has been classified as Red List (Low Evidence).
Fetal anomalies v0.2840 MFRP Alison Yeung changed review comment from: Bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Ocular abnormalities not detectable on fetal US and no association with extra-ocular fetal anomalies.; to: Bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Ocular abnormalities not detectable on fetal US and no association with extra-ocular fetal anomalies.
Fetal anomalies v0.2840 MFRP Alison Yeung reviewed gene: MFRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2840 IQCB1 Alison Yeung Marked gene: IQCB1 as ready
Fetal anomalies v0.2840 IQCB1 Alison Yeung Added comment: Comment when marking as ready: Not associated with fetal anomalies. Marked as RED for fetal anomalies panel
Fetal anomalies v0.2840 IQCB1 Alison Yeung Gene: iqcb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2840 IQCB1 Alison Yeung Classified gene: IQCB1 as Red List (low evidence)
Fetal anomalies v0.2840 IQCB1 Alison Yeung Gene: iqcb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2839 IQCB1 Alison Yeung reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2839 IARS Alison Yeung Phenotypes for gene: IARS were changed from Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, OMIM# 617093
Fetal anomalies v0.2838 IARS Alison Yeung reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426735, 27891590; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2838 IARS Alison Yeung Marked gene: IARS as ready
Fetal anomalies v0.2838 IARS Alison Yeung Gene: iars has been classified as Green List (High Evidence).
Fetal anomalies v0.2838 CTU2 Alison Yeung Marked gene: CTU2 as ready
Fetal anomalies v0.2838 CTU2 Alison Yeung Gene: ctu2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2838 TNNI2 Zornitza Stark Marked gene: TNNI2 as ready
Fetal anomalies v0.2838 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2838 TNNI2 Zornitza Stark Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B 601680 to Arthrogryposis multiplex congenita, distal, type 2B MIM#601680
Fetal anomalies v0.2837 TNNI2 Zornitza Stark Publications for gene: TNNI2 were set to
Fetal anomalies v0.2836 TNNI2 Zornitza Stark Mode of inheritance for gene: TNNI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2835 TNNI2 Zornitza Stark changed review comment from: Gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility demonstrated for at least two variants.; to: Gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility demonstrated for at least two variants.

Perinatal presentation.
Fetal anomalies v0.2835 TNNT1 Zornitza Stark Marked gene: TNNT1 as ready
Fetal anomalies v0.2835 TNNT1 Zornitza Stark Gene: tnnt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2835 TNNT1 Zornitza Stark Phenotypes for gene: TNNT1 were changed from Nemaline myopathy, Amish type 605355 to Nemaline myopathy 5, Amish type, MIM# 605355
Fetal anomalies v0.2834 TNNT1 Zornitza Stark Publications for gene: TNNT1 were set to
Fetal anomalies v0.2833 ACP5 Zornitza Stark Publications for gene: ACP5 were set to
Fetal anomalies v0.2832 ACAN Zornitza Stark Phenotypes for gene: ACAN were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY to Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800
Fetal anomalies v0.2831 ACAN Zornitza Stark Publications for gene: ACAN were set to
Fetal anomalies v0.2830 NOVA2 Zornitza Stark Marked gene: NOVA2 as ready
Fetal anomalies v0.2830 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2830 NOVA2 Zornitza Stark Phenotypes for gene: NOVA2 were changed from Intellectual disability with ataxia/spasticity to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
Fetal anomalies v0.2829 NOVA2 Zornitza Stark Publications for gene: NOVA2 were set to
Fetal anomalies v0.2828 NOVA2 Zornitza Stark Mode of pathogenicity for gene: NOVA2 was changed from to Other
Fetal anomalies v0.2827 NOVA2 Zornitza Stark Mode of inheritance for gene: NOVA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2826 NOVA2 Zornitza Stark Classified gene: NOVA2 as Green List (high evidence)
Fetal anomalies v0.2826 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2825 NOVA2 Zornitza Stark changed review comment from: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism.
Sources: Literature; to: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism.

Structural brain abnormalities reported.


Sources: Literature
Fetal anomalies v0.2825 KIF26B Zornitza Stark Marked gene: KIF26B as ready
Fetal anomalies v0.2825 KIF26B Zornitza Stark Gene: kif26b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2825 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF26B were set to 30151950
Phenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
Review for gene: KIF26B was set to RED
Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity.
Sources: Expert Review
Fetal anomalies v0.2824 ACP5 Alison Yeung Marked gene: ACP5 as ready
Fetal anomalies v0.2824 ACP5 Alison Yeung Gene: acp5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2824 ACP5 Alison Yeung Phenotypes for gene: ACP5 were changed from SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
Fetal anomalies v0.2823 ACP5 Alison Yeung reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26854080, 26951490, 21217755, 26789720, 2363422, 21217752; Phenotypes: Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2823 ACAN Alison Yeung Marked gene: ACAN as ready
Fetal anomalies v0.2823 ACAN Alison Yeung Gene: acan has been classified as Green List (High Evidence).
Fetal anomalies v0.2823 ACAN Alison Yeung reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24762113, 27870580, 19110214, 30124491, 28331218, 20137779; Phenotypes: Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2823 SLC45A1 Zornitza Stark Marked gene: SLC45A1 as ready
Fetal anomalies v0.2823 SLC45A1 Zornitza Stark Gene: slc45a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2823 SLC45A1 Zornitza Stark Phenotypes for gene: SLC45A1 were changed from Intellectual disability and epilepsy to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532
Fetal anomalies v0.2822 SLC45A1 Zornitza Stark Publications for gene: SLC45A1 were set to
Fetal anomalies v0.2821 SLC45A1 Zornitza Stark Classified gene: SLC45A1 as Red List (low evidence)
Fetal anomalies v0.2821 SLC45A1 Zornitza Stark Gene: slc45a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2820 SLC45A1 Zornitza Stark changed review comment from: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present.

Two families reported and some functional data.; to: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present.

Two families reported and some functional data.

Clinical presentation is typically post-natal.
Fetal anomalies v0.2820 SLC45A1 Zornitza Stark edited their review of gene: SLC45A1: Changed rating: RED
Fetal anomalies v0.2820 SLC35A1 Zornitza Stark Marked gene: SLC35A1 as ready
Fetal anomalies v0.2820 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2820 SLC35A1 Zornitza Stark Phenotypes for gene: SLC35A1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type IIf, MIM# 603585
Fetal anomalies v0.2819 SLC35A1 Zornitza Stark Publications for gene: SLC35A1 were set to
Fetal anomalies v0.2818 SLC35A1 Zornitza Stark changed review comment from: Three unrelated families reported.; to: Three unrelated families reported, variable severity, including onset. Microcephaly reported, but onset uncertain.
Fetal anomalies v0.2818 SLC35A1 Zornitza Stark edited their review of gene: SLC35A1: Changed rating: AMBER
Fetal anomalies v0.2818 PAX7 Zornitza Stark Marked gene: PAX7 as ready
Fetal anomalies v0.2818 PAX7 Zornitza Stark Gene: pax7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2818 PAX7 Zornitza Stark Classified gene: PAX7 as Red List (low evidence)
Fetal anomalies v0.2818 PAX7 Zornitza Stark Gene: pax7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2817 PAX7 Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: Progressive disorder, onset in infancy.
Fetal anomalies v0.2817 DNAH2 Zornitza Stark Marked gene: DNAH2 as ready
Fetal anomalies v0.2817 DNAH2 Zornitza Stark Gene: dnah2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2817 DNAH2 Zornitza Stark Phenotypes for gene: DNAH2 were changed from Hydrops; Complex cardiopathy to Hydrops; complex congenital heart disease; heterotaxy
Fetal anomalies v0.2816 TSPAN7 Zornitza Stark Marked gene: TSPAN7 as ready
Fetal anomalies v0.2816 TSPAN7 Zornitza Stark Gene: tspan7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2816 TSPAN7 Zornitza Stark Phenotypes for gene: TSPAN7 were changed from MENTAL RETARDATION X-LINKED TYPE 58 to Intellectual developmental disorder, X-linked 58, MIM# 300210
Fetal anomalies v0.2815 TSPAN7 Zornitza Stark reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM# 300210; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2815 Zornitza Stark removed gene:TRAPPC2 from the panel
Fetal anomalies v0.2814 Zornitza Stark removed gene:TPP1 from the panel
Fetal anomalies v0.2813 TOGARAM1 Zornitza Stark Marked gene: TOGARAM1 as ready
Fetal anomalies v0.2813 TOGARAM1 Zornitza Stark Gene: togaram1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2813 Zornitza Stark removed gene:TMPRSS6 from the panel
Fetal anomalies v0.2812 Zornitza Stark removed gene:TNFRSF11B from the panel
Fetal anomalies v0.2811 Zornitza Stark removed gene:TNFRSF13B from the panel
Fetal anomalies v0.2810 MEGF8 Zornitza Stark Marked gene: MEGF8 as ready
Fetal anomalies v0.2810 MEGF8 Zornitza Stark Gene: megf8 has been classified as Green List (High Evidence).
Fetal anomalies v0.2810 MEGF8 Zornitza Stark Phenotypes for gene: MEGF8 were changed from CARPENTER SYNDROME to Carpenter syndrome 2, MIM #614976
Fetal anomalies v0.2809 MEGF8 Zornitza Stark Publications for gene: MEGF8 were set to
Fetal anomalies v0.2808 MEGF8 Zornitza Stark changed review comment from: ID is described in this condition.
Sources: Expert list; to: Craniosynostosis and polysyndactyly.


Sources: Expert list
Fetal anomalies v0.2808 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Fetal anomalies v0.2808 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Fetal anomalies v0.2808 MEF2C Zornitza Stark Phenotypes for gene: MEF2C were changed from MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266
Fetal anomalies v0.2807 MEF2C Zornitza Stark Publications for gene: MEF2C were set to
Fetal anomalies v0.2806 MEF2C Zornitza Stark Mode of inheritance for gene: MEF2C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2805 MEF2C Zornitza Stark Tag SV/CNV tag was added to gene: MEF2C.
Fetal anomalies v0.2805 MED12 Zornitza Stark Marked gene: MED12 as ready
Fetal anomalies v0.2805 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Fetal anomalies v0.2805 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from LUJAN-FRYNS SYNDROME; OPITZ-KAVEGGIA SYNDROME to Lujan-Fryns syndrome, MIM# 309520; Opitz-Kaveggia syndrome, MIM# 305450
Fetal anomalies v0.2804 MED12 Zornitza Stark Publications for gene: MED12 were set to
Fetal anomalies v0.2803 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Fetal anomalies v0.2803 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2803 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from MICROCEPHALY PRIMARY TYPE 1 to Microcephaly 1, primary, autosomal recessive, MIM# 251200
Fetal anomalies v0.2802 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Fetal anomalies v0.2801 MCPH1 Zornitza Stark changed review comment from: Well established primary micorcephaly gene.

Sources: Literature; to: Well established primary microcephaly gene.

Sources: Literature
Fetal anomalies v0.2801 MCPH1 Zornitza Stark changed review comment from: Single individual reported as part of a CDH cohort.
Sources: Literature; to: Well established primary micorcephaly gene.

Sources: Literature
Fetal anomalies v0.2801 MCPH1 Zornitza Stark edited their review of gene: MCPH1: Changed rating: GREEN; Changed phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200
Fetal anomalies v0.2801 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Fetal anomalies v0.2801 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2801 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from MUCOLIPIDOSIS IV to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Fetal anomalies v0.2800 MCOLN1 Zornitza Stark Publications for gene: MCOLN1 were set to
Fetal anomalies v0.2799 MCOLN1 Zornitza Stark edited their review of gene: MCOLN1: Added comment: Prenatal presentations with brain abnormalities reported.; Changed rating: GREEN; Changed publications: 33963976
Fetal anomalies v0.2799 MCOLN1 Zornitza Stark edited their review of gene: MCOLN1: Changed rating: RED
Fetal anomalies v0.2799 MATN3 Zornitza Stark Marked gene: MATN3 as ready
Fetal anomalies v0.2799 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2799 MATN3 Zornitza Stark Phenotypes for gene: MATN3 were changed from Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728); Epiphyseal dysplasia, multiple, 5 (MIM#607078) to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728
Fetal anomalies v0.2798 MATN3 Zornitza Stark Mode of inheritance for gene: MATN3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2797 MATN3 Zornitza Stark reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2797 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Fetal anomalies v0.2797 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2797 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC SYNDROME 1 to 3MC syndrome 1, MIM# 257920; MONDO:0009770
Fetal anomalies v0.2796 MASP1 Zornitza Stark Publications for gene: MASP1 were set to
Fetal anomalies v0.2795 MAPRE2 Zornitza Stark Marked gene: MAPRE2 as ready
Fetal anomalies v0.2795 MAPRE2 Zornitza Stark Gene: mapre2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2795 MAPRE2 Zornitza Stark Phenotypes for gene: MAPRE2 were changed from Symmetric circumferential skin creases, congenital, 2, 616734 to Symmetric circumferential skin creases, congenital, 2, MIM#616734
Fetal anomalies v0.2794 MAPRE2 Zornitza Stark Mode of inheritance for gene: MAPRE2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.2793 MAPRE2 Zornitza Stark changed review comment from: ID is part of the phenotype, more severe in those with bi-allelic variants.
Sources: Expert list; to: Cleft palate and microcephaly reported.

Sources: Expert list
Fetal anomalies v0.2793 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Fetal anomalies v0.2793 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2793 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from CARDIOFACIOCUTANEOUS SYNDROME to Cardiofaciocutaneous syndrome 4, MIM# 615280
Fetal anomalies v0.2792 MAP2K2 Zornitza Stark Publications for gene: MAP2K2 were set to
Fetal anomalies v0.2791 MAP2K2 Zornitza Stark Mode of pathogenicity for gene: MAP2K2 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 v0.2790 MAP2K2 Zornitza Stark Mode of inheritance for gene: MAP2K2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2789 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Fetal anomalies v0.2789 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2789 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from CARDIOFACIOCUTANEOUS SYNDROME to Cardiofaciocutaneous syndrome 3, MIM# 615279
Fetal anomalies v0.2788 MAP2K1 Zornitza Stark Publications for gene: MAP2K1 were set to
Fetal anomalies v0.2787 MAP2K1 Zornitza Stark Mode of pathogenicity for gene: MAP2K1 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 v0.2786 MAP2K1 Zornitza Stark Mode of inheritance for gene: MAP2K1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2785 MAGEL2 Zornitza Stark Marked gene: MAGEL2 as ready
Fetal anomalies v0.2785 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2785 MAGEL2 Zornitza Stark Phenotypes for gene: MAGEL2 were changed from ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547; Schaaf-Yang syndrome to Schaaf-Yang syndrome, MIM# 615547
Fetal anomalies v0.2784 MAGEL2 Zornitza Stark Publications for gene: MAGEL2 were set to 26365340; 27195816
Fetal anomalies v0.2783 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Fetal anomalies v0.2783 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2783 MAB21L2 Zornitza Stark Phenotypes for gene: MAB21L2 were changed from MICROPHTHALMIA, SYNDROMIC 14 to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Fetal anomalies v0.2782 MAB21L2 Zornitza Stark Publications for gene: MAB21L2 were set to
Fetal anomalies v0.2781 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Fetal anomalies v0.2781 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2781 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from Noonan syndrome 10, 616564; Fetal hydrops to Noonan syndrome 10, MIM#616564; Noonan syndrome 2, MIM#605275; Fetal hydrops
Fetal anomalies v0.2780 LZTR1 Zornitza Stark Mode of pathogenicity for gene: LZTR1 was changed from to Other
Fetal anomalies v0.2779 LZTR1 Zornitza Stark Publications for gene: LZTR1 were set to
Fetal anomalies v0.2778 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Fetal anomalies v0.2778 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2778 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from Bardet-Biedl syndrome 17 615994 to Bardet-Biedl syndrome 17, MIM# 615994
Fetal anomalies v0.2777 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Fetal anomalies v0.2776 LZTFL1 Zornitza Stark Deleted their comment
Fetal anomalies v0.2776 LYST Zornitza Stark Marked gene: LYST as ready
Fetal anomalies v0.2776 LYST Zornitza Stark Gene: lyst has been classified as Red List (Low Evidence).
Fetal anomalies v0.2776 LYST Zornitza Stark Phenotypes for gene: LYST were changed from CHEDIAK-HIGASHI SYNDROME to Chediak-Higashi syndrome, MIM#214500
Fetal anomalies v0.2775 LYST Zornitza Stark Classified gene: LYST as Red List (low evidence)
Fetal anomalies v0.2775 LYST Zornitza Stark Gene: lyst has been classified as Red List (Low Evidence).
Fetal anomalies v0.2774 LYST Zornitza Stark commented on gene: LYST: Presentation is typically post-natal.
Fetal anomalies v0.2774 LYST Zornitza Stark edited their review of gene: LYST: Changed rating: RED
Fetal anomalies v0.2774 LYST Zornitza Stark Deleted their comment
Fetal anomalies v0.2774 LYST Zornitza Stark Deleted their comment
Fetal anomalies v0.2774 LRRC6 Zornitza Stark Marked gene: LRRC6 as ready
Fetal anomalies v0.2774 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2774 LRRC6 Zornitza Stark Phenotypes for gene: LRRC6 were changed from PRIMARY CILIARY DISKINESIA to Ciliary dyskinesia, primary, 19, MIM# 614935
Fetal anomalies v0.2773 LRRC6 Zornitza Stark Publications for gene: LRRC6 were set to
Fetal anomalies v0.2772 LRRC6 Zornitza Stark changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported. Situs inversus is a feature.
Fetal anomalies v0.2772 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Fetal anomalies v0.2772 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2772 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from HIGH BONE MASS TRAIT; ENDOSTEAL HYPEROSTOSIS WORTH TYPE; VITREORETINOPATHY EXUDATIVE TYPE 4; OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME to Osteoporosis-pseudoglioma syndrome, MIM# 259770; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Fetal anomalies v0.2771 LRP5 Zornitza Stark Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2770 LRP5 Zornitza Stark changed review comment from: ID generally normal in all of these conditions.; to: Variants in this gene are associated with multiple disorders. Some have congenital anomalies as a feature.
Fetal anomalies v0.2770 LRP5 Zornitza Stark edited their review of gene: LRP5: Changed rating: GREEN; Changed phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770, Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Fetal anomalies v0.2770 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Fetal anomalies v0.2770 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2770 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from DONNAI-BARROW SYNDROME to Donnai-Barrow syndrome, MIM# 222448
Fetal anomalies v0.2769 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Fetal anomalies v0.2769 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Fetal anomalies v0.2769 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from NAIL-PATELLA SYNDROME to Nail-patella syndrome, MIM# 161200, MONDO:0008061
Fetal anomalies v0.2768 LMX1B Zornitza Stark Publications for gene: LMX1B were set to
Fetal anomalies v0.2767 LMX1B Zornitza Stark Mode of inheritance for gene: LMX1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2766 LMX1B Zornitza Stark changed review comment from: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. >300 families reported.; to: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. >300 families reported.

Prenatal presentations with abnormal limb movement reported.
Fetal anomalies v0.2766 LMX1B Zornitza Stark Deleted their comment
Fetal anomalies v0.2766 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed publications: 29089684
Fetal anomalies v0.2766 LMOD3 Zornitza Stark Marked gene: LMOD3 as ready
Fetal anomalies v0.2766 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2766 LMOD3 Zornitza Stark Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 616165 to Nemaline myopathy 10, MIM# 616165
Fetal anomalies v0.2765 LMOD3 Zornitza Stark Publications for gene: LMOD3 were set to
Fetal anomalies v0.2764 LMNA Zornitza Stark Marked gene: LMNA as ready
Fetal anomalies v0.2764 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Fetal anomalies v0.2764 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from 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 to Restrictive dermopathy, lethal, MIM# 275210; Mandibuloacral dysplasia, MIM# 248370
Fetal anomalies v0.2763 LMNA Zornitza Stark Deleted their comment
Fetal anomalies v0.2763 LMNA Zornitza Stark edited their review of gene: LMNA: Added comment: Variants in this gene are associated with multiple phenotypes. The more severe end of the spectrum may present antenatally.; Changed rating: GREEN; Changed phenotypes: Restrictive dermopathy, lethal, MIM# 275210, Mandibuloacral dysplasia, MIM# 248370; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2763 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Fetal anomalies v0.2763 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2763 LMBRD1 Zornitza Stark Phenotypes for gene: LMBRD1 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF to Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380
Fetal anomalies v0.2762 LMBRD1 Zornitza Stark Classified gene: LMBRD1 as Red List (low evidence)
Fetal anomalies v0.2762 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2761 LMBRD1 Zornitza Stark changed review comment from: DD/ID reported in many affected individuals.; to: Onset in infancy.
Fetal anomalies v0.2761 LMBRD1 Zornitza Stark edited their review of gene: LMBRD1: Changed rating: RED
Fetal anomalies v0.2761 LMBR1 Zornitza Stark Marked gene: LMBR1 as ready
Fetal anomalies v0.2761 LMBR1 Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2761 LMBR1 Zornitza Stark Phenotypes for gene: LMBR1 were changed from Acheiropody 200500; Triphalangeal thumb, type I 174500; Laurin-Sandrow syndrome 135750; Triphalangeal thumb-polysyndactyly syndrome 174500; Hypoplastic or aplastic tibia with polydactyly 188740; Polydactyly, preaxial type II 174500; Syndactyly, type IV 186200 to Laurin-Sandrow syndrome, MIM# 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I, MIM# 174500; Syndactyly, type IV, MIM# 186200; Acheiropody, MIM# 200500; Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500; Hypoplastic or aplastic tibia with polydactyly, MIM# 188740