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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
Leukodystrophy - paediatric v0.243 ABCC9 Zornitza Stark Marked gene: ABCC9 as ready
Leukodystrophy - paediatric v0.243 ABCC9 Zornitza Stark Gene: abcc9 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.243 ABCC9 Zornitza Stark Classified gene: ABCC9 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.243 ABCC9 Zornitza Stark Gene: abcc9 has been classified as Amber List (Moderate Evidence).
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).
Leukodystrophy - paediatric v0.242 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: ABCC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC9 were set to 31575858
Phenotypes for gene: ABCC9 were set to Intellectual disability and myopathy syndrome, MIM# 619719
Review for gene: ABCC9 was set to AMBER
Added comment: PMID 31575858: Report of 6 cases from 2 families, all with homozygous c.1320+1G>A. Phenotype of mild ID, similar facies, myopathy, cerebral white matter hyperintensities, and cardiac systolic dysfunction in the oldest cases.
'This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function'.
Sources: Literature
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
Intellectual disability syndromic and non-syndromic v0.4470 ABCC9 Zornitza Stark Marked gene: ABCC9 as ready
Intellectual disability syndromic and non-syndromic v0.4470 ABCC9 Zornitza Stark Gene: abcc9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4470 ABCC9 Zornitza Stark Phenotypes for gene: ABCC9 were changed from to Intellectual disability and myopathy syndrome, MIM# 619719; Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome
Intellectual disability syndromic and non-syndromic v0.4469 ABCC9 Zornitza Stark Mode of inheritance for gene: ABCC9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4468 ABCC9 Zornitza Stark reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31575858, 22610116, 22608503; Phenotypes: Intellectual disability and myopathy syndrome, MIM# 619719, Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10808 ABCC9 Zornitza Stark Phenotypes for gene: ABCC9 were changed from Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome; mild ID, similar facies, myopathy, cerebral white matter hyperintensities; cardiac systolic dysfunction to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome; Intellectual disability and myopathy syndrome, MIM# 619719
Mendeliome v0.10807 ABCC9 Zornitza Stark Mode of inheritance for gene: ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10806 ABCC9 Zornitza Stark edited their review of gene: ABCC9: Changed phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850, Cantu syndrome, Intellectual disability and myopathy syndrome, MIM# 619719
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
Mendeliome v0.10806 ACP5 Zornitza Stark Phenotypes for gene: ACP5 were changed from to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
Mendeliome v0.10805 ACP5 Zornitza Stark Publications for gene: ACP5 were set to
Mendeliome v0.10804 ACP5 Zornitza Stark Mode of inheritance for gene: ACP5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10803 ACP2 Zornitza Stark Phenotypes for gene: ACP2 were changed from to Lysosomal acid phosphatase deficiency, MIM# 200950
Mendeliome v0.10802 ACP2 Zornitza Stark Publications for gene: ACP2 were set to
Mendeliome v0.10801 ACP2 Zornitza Stark Mode of inheritance for gene: ACP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Cerebellar and Pontocerebellar Hypoplasia v1.43 TBCE Zornitza Stark Marked gene: TBCE as ready
Cerebellar and Pontocerebellar Hypoplasia v1.43 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Ataxia - paediatric v0.322 TBCE Zornitza Stark Marked gene: TBCE as ready
Ataxia - paediatric v0.322 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Regression v0.397 PIK3R5 Zornitza Stark Marked gene: PIK3R5 as ready
Regression v0.397 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Regression v0.397 PIK3R5 Zornitza Stark Phenotypes for gene: PIK3R5 were changed from to Ataxia-oculomotor apraxia 3, OMIM #615217
Regression v0.396 PIK3R5 Zornitza Stark Publications for gene: PIK3R5 were set to
Regression v0.395 PIK3R5 Zornitza Stark Mode of inheritance for gene: PIK3R5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.394 PIK3R5 Zornitza Stark Classified gene: PIK3R5 as Red List (low evidence)
Regression v0.394 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Regression v0.393 PIK3R5 Zornitza Stark reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: None; Publications: 22065524; Phenotypes: Ataxia-oculomotor apraxia 3, OMIM #615217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10800 PIK3R5 Zornitza Stark Marked gene: PIK3R5 as ready
Mendeliome v0.10800 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Mendeliome v0.10800 PIK3R5 Zornitza Stark Phenotypes for gene: PIK3R5 were changed from to Ataxia-oculomotor apraxia 3, OMIM #615217
Mendeliome v0.10799 PIK3R5 Zornitza Stark Publications for gene: PIK3R5 were set to
Mendeliome v0.10798 PIK3R5 Zornitza Stark Mode of inheritance for gene: PIK3R5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10797 PIK3R5 Zornitza Stark Classified gene: PIK3R5 as Red List (low evidence)
Mendeliome v0.10797 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Mendeliome v0.10796 PIK3R5 Zornitza Stark reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: None; Publications: 22065524; Phenotypes: Ataxia-oculomotor apraxia 3, OMIM #615217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.322 PIK3R5 Zornitza Stark Marked gene: PIK3R5 as ready
Ataxia - paediatric v0.322 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.322 PIGS Zornitza Stark Marked gene: PIGS as ready
Ataxia - paediatric v0.322 PIGS Zornitza Stark Gene: pigs has been classified as Green List (High Evidence).
Ataxia - paediatric v0.322 PIGS Zornitza Stark Publications for gene: PIGS were set to PubMed: 30269814, 33410539
Ataxia - paediatric v0.321 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Ataxia - paediatric v0.321 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Ataxia - paediatric v0.321 NUBPL Zornitza Stark Publications for gene: NUBPL were set to PubMed: 23553477, 32518176,
Cerebellar and Pontocerebellar Hypoplasia v1.43 NOVA2 Zornitza Stark Marked gene: NOVA2 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.43 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
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
Ataxia - paediatric v0.320 NOVA2 Zornitza Stark Marked gene: NOVA2 as ready
Ataxia - paediatric v0.320 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
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
Microcephaly v1.95 KIF26B Zornitza Stark Marked gene: KIF26B as ready
Microcephaly v1.95 KIF26B Zornitza Stark Gene: kif26b has been classified as Red List (Low Evidence).
Microcephaly v1.95 KIF26B Zornitza Stark edited their review of gene: KIF26B: Changed rating: RED
Microcephaly v1.95 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Microcephaly. 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
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
Arthrogryposis v0.320 KIF26B Zornitza Stark Marked gene: KIF26B as ready
Arthrogryposis v0.320 KIF26B Zornitza Stark Gene: kif26b has been classified as Red List (Low Evidence).
Arthrogryposis v0.320 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Arthrogryposis. 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
Cerebellar and Pontocerebellar Hypoplasia v1.43 Zornitza Stark removed gene:AL592103.1 from the panel
Cerebellar and Pontocerebellar Hypoplasia v1.42 KIF26B Zornitza Stark Marked gene: KIF26B as ready
Cerebellar and Pontocerebellar Hypoplasia v1.42 KIF26B Zornitza Stark Gene: kif26b has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.42 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Cerebellar and Pontocerebellar Hypoplasia. 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
Mendeliome v0.10796 KIF26B Zornitza Stark Marked gene: KIF26B as ready
Mendeliome v0.10796 KIF26B Zornitza Stark Gene: kif26b has been classified as Red List (Low Evidence).
Mendeliome v0.10796 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Mendeliome. 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
Mendeliome v0.10795 ACP5 Alison Yeung Marked gene: ACP5 as ready
Mendeliome v0.10795 ACP5 Alison Yeung Gene: acp5 has been classified as Green List (High Evidence).
Mendeliome v0.10795 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
Mendeliome v0.10795 ACP2 Alison Yeung Marked gene: ACP2 as ready
Mendeliome v0.10795 ACP2 Alison Yeung Gene: acp2 has been classified as Red List (Low Evidence).
Mendeliome v0.10795 ACP2 Alison Yeung Classified gene: ACP2 as Red List (low evidence)
Mendeliome v0.10795 ACP2 Alison Yeung Gene: acp2 has been classified as Red List (Low Evidence).
Mendeliome v0.10794 ACP2 Alison Yeung reviewed gene: ACP2: Rating: RED; Mode of pathogenicity: None; Publications: 5410815; Phenotypes: Lysosomal acid phosphatase deficiency, OMIM# 200950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Cerebellar and Pontocerebellar Hypoplasia v1.41 TBCE Chirag Patel Classified gene: TBCE as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.41 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Ataxia - paediatric v0.320 TBCE Chirag Patel Classified gene: TBCE as Green List (high evidence)
Ataxia - paediatric v0.320 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.40 TBCE Chirag Patel gene: TBCE was added
gene: TBCE was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to PubMed: 27666369
Phenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207
Review for gene: TBCE was set to GREEN
Added comment: 5 patients from 3 unrelated Italian families with progressive encephalopathy with amyotrophy and optic atrophy (PEAMO), and biallelic variants in TCBE gene (WES or Sanger). PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy.
Sources: Literature
Ataxia - paediatric v0.319 TBCE Chirag Patel gene: TBCE was added
gene: TBCE was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to PubMed: 27666369
Phenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207
Review for gene: TBCE was set to GREEN
Added comment: 5 patients from 3 unrelated Italian families with progressive encephalopathy with amyotrophy and optic atrophy (PEAMO), and biallelic variants in TCBE gene (WES or Sanger). PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.39 PIK3R5 Chirag Patel gene: PIK3R5 was added
gene: PIK3R5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3R5 were set to PubMed: 22065524
Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3, OMIM #615217
Review for gene: PIK3R5 was set to RED
Added comment: Al Tassan et al. (2012) reported 4 sibs, from consanguineous Saudi Arabian family, with ataxia-oculomotor apraxia. The proband developed progressive unsteady gait and had frequent falls at age 14 years with later onset of arm dysmetria and dysarthria. He became wheelchair-bound at age 23. Ocular movement was impaired, with slowed saccadic eye movements and head-eye lag resulting in head thrust, but smooth pursuit was normal. He had severe limb and axial dysmetria with mild distal atrophy and weakness affecting the lower limbs more than the upper limbs. He also had distal sensory impairment, more prominent in the lower limbs, areflexia, and axonal sensory polyneuropathy with absent sensory nerve action potentials in the lower limbs. Laboratory studies showed increased level of alpha-fetoprotein, and brain MRI showed atrophy of the cerebellar folia and vermis. His 3 sibs were similarly affected. A homozygous mutation in the PIK3R5 gene (P629S) was found by linkage analysis followed by sequencing of the genes within the region.
Sources: Literature
Ataxia - paediatric v0.318 PIK3R5 Chirag Patel gene: PIK3R5 was added
gene: PIK3R5 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3R5 were set to PubMed: 22065524
Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3, OMIM #615217
Review for gene: PIK3R5 was set to RED
Added comment: Al Tassan et al. (2012) reported 4 sibs, from consanguineous Saudi Arabian family, with ataxia-oculomotor apraxia. The proband developed progressive unsteady gait and had frequent falls at age 14 years with later onset of arm dysmetria and dysarthria. He became wheelchair-bound at age 23. Ocular movement was impaired, with slowed saccadic eye movements and head-eye lag resulting in head thrust, but smooth pursuit was normal. He had severe limb and axial dysmetria with mild distal atrophy and weakness affecting the lower limbs more than the upper limbs. He also had distal sensory impairment, more prominent in the lower limbs, areflexia, and axonal sensory polyneuropathy with absent sensory nerve action potentials in the lower limbs. Laboratory studies showed increased level of alpha-fetoprotein, and brain MRI showed atrophy of the cerebellar folia and vermis. His 3 sibs were similarly affected. A homozygous mutation in the PIK3R5 gene (P629S) was found by linkage analysis followed by sequencing of the genes within the region.
Sources: Literature
Ataxia - paediatric v0.317 PIGS Chirag Patel Classified gene: PIGS as Green List (high evidence)
Ataxia - paediatric v0.317 PIGS Chirag Patel Gene: pigs has been classified as Green List (High Evidence).
Ataxia - paediatric v0.316 PIGS Chirag Patel gene: PIGS was added
gene: PIGS was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to PubMed: 30269814, 33410539
Phenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95, OMIM # 618143
Review for gene: PIGS was set to GREEN
Added comment: DEE95 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. Mutiple patients reported with biallelic variants. Some functional evidence with decreased levels of GPI-anchored proteins compared to controls.
Sources: Literature
Ataxia - paediatric v0.315 NUBPL Chirag Patel Classified gene: NUBPL as Green List (high evidence)
Ataxia - paediatric v0.315 NUBPL Chirag Patel Gene: nubpl has been classified as Green List (High Evidence).
Ataxia - paediatric v0.314 NUBPL Chirag Patel gene: NUBPL was added
gene: NUBPL was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBPL were set to PubMed: 23553477, 32518176,
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242
Review for gene: NUBPL was set to GREEN
Added comment: Many patients reported with biallelic variants in gene with mitochondrial complex I deficiency. Presents with various neurodevelopmental issues including ataxia.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.38 NOVA2 Chirag Patel Classified gene: NOVA2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.38 NOVA2 Chirag Patel Gene: nova2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.38 NOVA2 Chirag Patel Classified gene: NOVA2 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.38 NOVA2 Chirag Patel Gene: nova2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.313 NOVA2 Chirag Patel Classified gene: NOVA2 as Green List (high evidence)
Ataxia - paediatric v0.313 NOVA2 Chirag Patel Gene: nova2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.313 NOVA2 Chirag Patel Classified gene: NOVA2 as Green List (high evidence)
Ataxia - paediatric v0.313 NOVA2 Chirag Patel Gene: nova2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.37 NOVA2 Chirag Patel gene: NOVA2 was added
gene: NOVA2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOVA2 were set to PMID: 32197073
Phenotypes for gene: NOVA2 were set to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859
Review for gene: NOVA2 was set to GREEN
Added comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. Early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder. Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum.
Sources: Literature
Ataxia - paediatric v0.312 NOVA2 Chirag Patel gene: NOVA2 was added
gene: NOVA2 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOVA2 were set to PMID: 32197073
Phenotypes for gene: NOVA2 were set to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859
Review for gene: NOVA2 was set to GREEN
Added comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. Early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder. Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.36 AL592103.1 Chirag Patel gene: AL592103.1 was added
gene: AL592103.1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: AL592103.1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AL592103.1 were set to PMID: 30151950
Phenotypes for gene: AL592103.1 were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
Review for gene: AL592103.1 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: Literature
Genetic Epilepsy v0.1434 SLC45A1 Zornitza Stark Marked gene: SLC45A1 as ready
Genetic Epilepsy v0.1434 SLC45A1 Zornitza Stark Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1434 SLC45A1 Zornitza Stark Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532
Genetic Epilepsy v0.1433 SLC45A1 Zornitza Stark Publications for gene: SLC45A1 were set to
Genetic Epilepsy v0.1432 SLC45A1 Zornitza Stark Mode of inheritance for gene: SLC45A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1431 SLC45A1 Zornitza Stark Classified gene: SLC45A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1431 SLC45A1 Zornitza Stark Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
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
Ataxia - paediatric v0.311 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Ataxia - paediatric v0.311 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.311 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546
Ataxia - paediatric v0.310 BRAT1 Zornitza Stark reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.35 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.35 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.35 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546
Mendeliome v0.10794 CHP1 Zornitza Stark Marked gene: CHP1 as ready
Mendeliome v0.10794 CHP1 Zornitza Stark Gene: chp1 has been classified as Green List (High Evidence).
Mendeliome v0.10794 CHP1 Zornitza Stark Classified gene: CHP1 as Green List (high evidence)
Mendeliome v0.10794 CHP1 Zornitza Stark Gene: chp1 has been classified as Green List (High Evidence).
Mendeliome v0.10793 CHP1 Zornitza Stark gene: CHP1 was added
gene: CHP1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHP1 were set to 29379881; 32787936
Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, MIM #618438
Review for gene: CHP1 was set to GREEN
Added comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.

Decreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse.
Sources: Expert Review
Ataxia - paediatric v0.310 CHP1 Zornitza Stark Marked gene: CHP1 as ready
Ataxia - paediatric v0.310 CHP1 Zornitza Stark Gene: chp1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.310 CHP1 Zornitza Stark Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Ataxia - paediatric v0.309 CHP1 Zornitza Stark Classified gene: CHP1 as Amber List (moderate evidence)
Ataxia - paediatric v0.309 CHP1 Zornitza Stark Gene: chp1 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.308 CHP1 Zornitza Stark reviewed gene: CHP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 9, autosomal recessive, OMIM #618438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.150 CHP1 Zornitza Stark Marked gene: CHP1 as ready
Ataxia - adult onset v0.150 CHP1 Zornitza Stark Gene: chp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.150 CHP1 Zornitza Stark Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Ataxia - adult onset v0.149 CHP1 Zornitza Stark Classified gene: CHP1 as Amber List (moderate evidence)
Ataxia - adult onset v0.149 CHP1 Zornitza Stark Gene: chp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.148 CHP1 Zornitza Stark reviewed gene: CHP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebellar and Pontocerebellar Hypoplasia v1.34 CHP1 Zornitza Stark Marked gene: CHP1 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.34 CHP1 Zornitza Stark Gene: chp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.34 CHP1 Zornitza Stark Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Combined Immunodeficiency v1.12 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679 to Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Combined Immunodeficiency v1.11 PI4KA Zornitza Stark edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621, Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Mendeliome v0.10792 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621 to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621; Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Mendeliome v0.10791 PI4KA Zornitza Stark edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621, Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Cardiomyopathy_Paediatric v0.121 FNIP1 Zornitza Stark Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Cardiomyopathy_Paediatric v0.120 FNIP1 Zornitza Stark edited their review of gene: FNIP1: Changed phenotypes: Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Combined Immunodeficiency v1.11 FNIP1 Zornitza Stark Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Combined Immunodeficiency v1.10 FNIP1 Zornitza Stark edited their review of gene: FNIP1: Changed phenotypes: Hypertrophic Cardiomyopathy, Primary Immunodeficiency, Agammaglobulinemia, Neutropenia, Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Combined Immunodeficiency v1.10 FNIP1 Zornitza Stark edited their review of gene: FNIP1: Changed phenotypes: Hypertrophic Cardiomyopathy, Primary Immunodeficiency, Agammaglobulinemia, NeutropeniaImmunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Mendeliome v0.10791 FNIP1 Zornitza Stark Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Mendeliome v0.10790 FNIP1 Zornitza Stark reviewed gene: FNIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10790 TCF12 Zornitza Stark Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, MIM# 615314; Kallman syndrome to Craniosynostosis 3, MIM# 615314; Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallman syndrome
Mendeliome v0.10789 TCF12 Zornitza Stark edited their review of gene: TCF12: Changed phenotypes: Craniosynostosis 3, MIM# 615314, Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718, Kallman syndrome
Differences of Sex Development v0.238 TCF12 Zornitza Stark Phenotypes for gene: TCF12 were changed from Kallmann syndrome to Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallmann syndrome
Differences of Sex Development v0.237 TCF12 Zornitza Stark edited their review of gene: TCF12: Changed phenotypes: Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718, Kallmann syndrome
Predominantly Antibody Deficiency v0.95 SPI1 Zornitza Stark Phenotypes for gene: SPI1 were changed from Agammaglobulinaemia to Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Predominantly Antibody Deficiency v0.94 SPI1 Zornitza Stark edited their review of gene: SPI1: Changed phenotypes: Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Mendeliome v0.10789 SPI1 Zornitza Stark Phenotypes for gene: SPI1 were changed from Agammaglobulinaemia to Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Mendeliome v0.10788 SPI1 Zornitza Stark edited their review of gene: SPI1: Changed phenotypes: Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Cerebellar and Pontocerebellar Hypoplasia v1.33 CHP1 Chirag Patel Classified gene: CHP1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.33 CHP1 Chirag Patel Gene: chp1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.148 CHP1 Chirag Patel Classified gene: CHP1 as Green List (high evidence)
Ataxia - adult onset v0.148 CHP1 Chirag Patel Gene: chp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.32 CHP1 Chirag Patel gene: CHP1 was added
gene: CHP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM #618438
Review for gene: CHP1 was set to GREEN
Added comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.

Decreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse.
Sources: Literature
Ataxia - adult onset v0.147 CHP1 Chirag Patel gene: CHP1 was added
gene: CHP1 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM #618438
Review for gene: CHP1 was set to GREEN
Added comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.

Decreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse.
Sources: Literature
Mendeliome v0.10788 CYS1 Zornitza Stark Marked gene: CYS1 as ready
Mendeliome v0.10788 CYS1 Zornitza Stark Gene: cys1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10788 CYS1 Zornitza Stark Classified gene: CYS1 as Amber List (moderate evidence)
Mendeliome v0.10788 CYS1 Zornitza Stark Gene: cys1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10787 CYS1 Zornitza Stark gene: CYS1 was added
gene: CYS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYS1 were set to 34521872
Phenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642
Review for gene: CYS1 was set to AMBER
Added comment: Single family reported. However, extensive experimental data, including mouse model.
Sources: Literature
Ataxia - paediatric v0.308 CHP1 Chirag Patel Classified gene: CHP1 as Green List (high evidence)
Ataxia - paediatric v0.308 CHP1 Chirag Patel Gene: chp1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.307 CHP1 Chirag Patel gene: CHP1 was added
gene: CHP1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHP1 were set to PMID: 29379881, 32787936
Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM #618438
Review for gene: CHP1 was set to GREEN
Added comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.

Decreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse.
Sources: Literature
Renal Ciliopathies and Nephronophthisis v1.8 CYS1 Zornitza Stark Marked gene: CYS1 as ready
Renal Ciliopathies and Nephronophthisis v1.8 CYS1 Zornitza Stark Gene: cys1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v1.8 CYS1 Zornitza Stark Classified gene: CYS1 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v1.8 CYS1 Zornitza Stark Gene: cys1 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v1.7 CYS1 Zornitza Stark gene: CYS1 was added
gene: CYS1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYS1 were set to 34521872
Phenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642
Review for gene: CYS1 was set to AMBER
Added comment: Single family reported. However, extensive experimental data, including mouse model.
Sources: Literature
Ataxia - paediatric v0.306 BRAT1 Chirag Patel Classified gene: BRAT1 as Green List (high evidence)
Ataxia - paediatric v0.306 BRAT1 Chirag Patel Gene: brat1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.31 BRAT1 Chirag Patel Classified gene: BRAT1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.31 BRAT1 Chirag Patel Gene: brat1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.306 BRAT1 Chirag Patel Classified gene: BRAT1 as Green List (high evidence)
Ataxia - paediatric v0.306 BRAT1 Chirag Patel Gene: brat1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.30 BRAT1 Chirag Patel gene: BRAT1 was added
gene: BRAT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546
Phenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Review for gene: BRAT1 was set to GREEN
Added comment: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene.
Sources: Literature
Ataxia - paediatric v0.305 BRAT1 Chirag Patel gene: BRAT1 was added
gene: BRAT1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546
Phenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Review for gene: BRAT1 was set to GREEN
Added comment: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene.
Sources: Literature
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
Fetal anomalies v0.2760 LMBR1 Zornitza Stark changed review comment from: Radial aplasia but with ulnar dimelia. Reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb.
Sources: Expert list; to: Variants are associated with multiple types of limb anomalies.

Note that the reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb.
Sources: Expert list
Fetal anomalies v0.2760 LMBR1 Zornitza Stark edited their review of gene: LMBR1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2760 LMBR1 Zornitza Stark edited their review of gene: LMBR1: Changed phenotypes: 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
Fetal anomalies v0.2760 ISPD Zornitza Stark Marked gene: ISPD as ready
Fetal anomalies v0.2760 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Fetal anomalies v0.2760 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from WALKER WARBURG SYNDROME to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643
Fetal anomalies v0.2759 ISPD Zornitza Stark Publications for gene: ISPD were set to
Fetal anomalies v0.2758 ERGIC1 Zornitza Stark Marked gene: ERGIC1 as ready
Fetal anomalies v0.2758 ERGIC1 Zornitza Stark Gene: ergic1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2758 ERGIC1 Zornitza Stark Classified gene: ERGIC1 as Green List (high evidence)
Fetal anomalies v0.2758 ERGIC1 Zornitza Stark Gene: ergic1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2757 ERBB3 Zornitza Stark Marked gene: ERBB3 as ready
Fetal anomalies v0.2757 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2757 ERBB3 Zornitza Stark Classified gene: ERBB3 as Green List (high evidence)
Fetal anomalies v0.2757 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2756 ERGIC1 Krithika Murali gene: ERGIC1 was added
gene: ERGIC1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC1 were set to 28317099; 34037256; 31230720
Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100
Review for gene: ERGIC1 was set to GREEN
Added comment: Recent Panelapp review by Z. Stark Oct 2021 - no new publications since

---

Pehlivan et al. 2019 (PMID:31230720) identified the third case of arthrogryposis in a child who harboured a previously unreported homozygous variant (c.782G>A; p.Gly261Asp) in this gene. Parents were heterozygous carriers. Functional studies were not performed.
Created: 14 Oct 2021, 7:23 a.m. | Last Modified: 14 Oct 2021, 7:23 a.m.
Panel Version: 0.9373

Reinstein et al. (2018) used WES in a large consanguineous Israeli Arab kindred consisting of 16 patients affected with the neurogenic type of arthrogryposis multiplex congenita. They identified a homozygous missense (V98E) mutation in ERGIC1 gene, which segregated with the disorder in the kindred, and was not found in the ExAC database or in 212 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed. ERGIC1 encodes a cycling membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.

Marconi et al (2021) used genome sequencing in a consanguineous family with 2 affected siblings presenting congenital arthrogryposis and some facial dysmorphism. They identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents.
Sources: Literature
Sources: Literature
Fetal anomalies v0.2756 ERBB3 Krithika Murali gene: ERBB3 was added
gene: ERBB3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 31752936; 17701904; 33720042
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease (HSCR, aganglionic megacolon) MIM#142623
Review for gene: ERBB3 was set to GREEN
Added comment: Biallelic variants associated with multi-system disorder, including gut dysmotility/Hirschsprung disease; with or without contractures.
--

PMID 33497358: 6 individuals from 4 unrelated families reported with severe gut dysmotility and other features of neurocristinopathy including short-segment HSCR, progressive axonal peripheral neuropathy, dysautonomia, hypopigmentation, deafness. Note variants in this gene have also recently been linked to Hirschsprung's disease.

PMID 17701904: Lethal congenital contractual syndrome: Two families reported with contractures, positional approach used in gene discovery (2007).

PMID 33720042 - Seven variants (missense and frameshfit) from four independent families with Hirschsprung disease (HSCR) reported. All reported individuals variably associated with conditions such as HSCR, chronic intestinal pseudo-obstruction, peripheral neuropathy, and arthrogryposis. Functional study revealed mutant proteins reduced protein expression or altered phosphorylation of the mutant receptors.
Sources: Literature
Fetal anomalies v0.2756 INVS Zornitza Stark Marked gene: INVS as ready
Fetal anomalies v0.2756 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Fetal anomalies v0.2756 INVS Zornitza Stark Phenotypes for gene: INVS were changed from Nephronophthisis 2 602088 to Nephronophthisis 2, MIM# 602088
Fetal anomalies v0.2755 INVS Zornitza Stark Publications for gene: INVS were set to
Fetal anomalies v0.2754 INSR Zornitza Stark Marked gene: INSR as ready
Fetal anomalies v0.2754 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Fetal anomalies v0.2754 INSR Zornitza Stark Phenotypes for gene: INSR were changed from DONOHUE SYNDROME 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549; Hyperinsulinemic hypoglycemia, familial, 5 609968; Rabson-Mendenhall syndrome 262190 to Leprechaunism, MIM# 246200
Fetal anomalies v0.2753 INSR Zornitza Stark changed review comment from: ID is not part of the phenotype of Leprechaunism, and some of the individuals with Rabson-Mendenhall are described as 'mentally precocious'.; to: IUGR
Fetal anomalies v0.2753 INSR Zornitza Stark edited their review of gene: INSR: Changed phenotypes: Leprechaunism, MIM# 246200
Fetal anomalies v0.2753 INSR Zornitza Stark edited their review of gene: INSR: Changed rating: GREEN
Fetal anomalies v0.2753 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Fetal anomalies v0.2753 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Fetal anomalies v0.2753 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS; JOUBERT SYNDROME TYPE 1 to Joubert syndrome 1, MIM# 213300; MONDO:0008944
Fetal anomalies v0.2752 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Fetal anomalies v0.2751 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Fetal anomalies v0.2751 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Fetal anomalies v0.2751 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; INCONTINENTIA PIGMENTI; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA to ncontinentia pigmenti, MIM# 308300
Fetal anomalies v0.2750 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Mendeliome v0.10786 KIF1B Zornitza Stark Classified gene: KIF1B as Red List (low evidence)
Mendeliome v0.10786 KIF1B Zornitza Stark Gene: kif1b has been classified as Red List (Low Evidence).
Mendeliome v0.10785 KIF1B Zornitza Stark edited their review of gene: KIF1B: Added comment: Limited for both phenotypes.; Changed rating: RED
Hereditary Neuropathy_CMT - isolated v1.13 KIF1B Zornitza Stark Publications for gene: KIF1B were set to
Hereditary Neuropathy_CMT - isolated v1.12 KIF1B Zornitza Stark Mode of inheritance for gene: KIF1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.11 KIF1B Zornitza Stark Classified gene: KIF1B as Red List (low evidence)
Hereditary Neuropathy_CMT - isolated v1.11 KIF1B Zornitza Stark Gene: kif1b has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v1.10 KIF1B Zornitza Stark reviewed gene: KIF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2A1 MIM#118210; Mode of inheritance: None
Mendeliome v0.10785 CAMK2G Zornitza Stark Marked gene: CAMK2G as ready
Mendeliome v0.10785 CAMK2G Zornitza Stark Gene: camk2g has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10785 CAMK2G Zornitza Stark Classified gene: CAMK2G as Amber List (moderate evidence)
Mendeliome v0.10785 CAMK2G Zornitza Stark Gene: camk2g has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10784 CAMK2G Zornitza Stark gene: CAMK2G was added
gene: CAMK2G was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2G were set to 30184290; 23033978
Phenotypes for gene: CAMK2G were set to Mental retardation, autosomal dominant 59, MIM# 618522
Review for gene: CAMK2G was set to AMBER
Added comment: Two unrelated individuals reported with de novo (p.Arg292Pro) variant. Functional data suggests GoF.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4468 CAMK2G Zornitza Stark Publications for gene: CAMK2G were set to 30184290
Intellectual disability syndromic and non-syndromic v0.4467 CAMK2G Zornitza Stark Phenotypes for gene: CAMK2G were changed from Intellectual disability to Mental retardation, autosomal dominant 59, MIM# 618522
Intellectual disability syndromic and non-syndromic v0.4466 CAMK2G Zornitza Stark Marked gene: CAMK2G as ready
Intellectual disability syndromic and non-syndromic v0.4466 CAMK2G Zornitza Stark Gene: camk2g has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4466 CAMK2G Zornitza Stark Classified gene: CAMK2G as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4466 CAMK2G Zornitza Stark Gene: camk2g has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4465 CAMK2G Zornitza Stark edited their review of gene: CAMK2G: Changed publications: 30184290, 29100089
Intellectual disability syndromic and non-syndromic v0.4465 CAMK2G Zornitza Stark gene: CAMK2G was added
gene: CAMK2G was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2G were set to 30184290
Phenotypes for gene: CAMK2G were set to Intellectual disability
Mode of pathogenicity for gene: CAMK2G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CAMK2G was set to AMBER
Added comment: Two unrelated individuals reported with de novo (p.Arg292Pro) variant. Functional data suggests GoF.
Sources: Expert Review
Genetic Epilepsy v0.1430 CSNK2B Zornitza Stark Marked gene: CSNK2B as ready
Genetic Epilepsy v0.1430 CSNK2B Zornitza Stark Gene: csnk2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1430 CSNK2B Zornitza Stark Phenotypes for gene: CSNK2B were changed from to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732
Genetic Epilepsy v0.1429 CSNK2B Zornitza Stark Publications for gene: CSNK2B were set to
Genetic Epilepsy v0.1428 CSNK2B Zornitza Stark Mode of inheritance for gene: CSNK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1427 CSNK2B Zornitza Stark reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28585349, 28762608; Phenotypes: Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4464 CSNK2B Zornitza Stark Marked gene: CSNK2B as ready
Intellectual disability syndromic and non-syndromic v0.4464 CSNK2B Zornitza Stark Gene: csnk2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4464 CSNK2B Zornitza Stark Phenotypes for gene: CSNK2B were changed from to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732
Intellectual disability syndromic and non-syndromic v0.4463 CSNK2B Zornitza Stark Publications for gene: CSNK2B were set to
Intellectual disability syndromic and non-syndromic v0.4462 CSNK2B Zornitza Stark Mode of inheritance for gene: CSNK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4461 CSNK2B Zornitza Stark reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28585349, 28762608; Phenotypes: Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10783 CSNK2B Zornitza Stark Marked gene: CSNK2B as ready
Mendeliome v0.10783 CSNK2B Zornitza Stark Gene: csnk2b has been classified as Green List (High Evidence).
Mendeliome v0.10783 CSNK2B Zornitza Stark Phenotypes for gene: CSNK2B were changed from to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732
Mendeliome v0.10782 CSNK2B Zornitza Stark Publications for gene: CSNK2B were set to
Mendeliome v0.10781 CSNK2B Zornitza Stark Mode of inheritance for gene: CSNK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10780 CSNK2B Zornitza Stark reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28585349, 28762608; Phenotypes: Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Classified gene: RNU4ATAC as Green List (high evidence)
Syndromic Retinopathy v0.185 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.184 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 2801768; 29265708; 30368667
Phenotypes for gene: RNU4ATAC were set to Roifman syndrome, MIM# 616651; Lowry-Wood syndrome, MIM# 226960
Review for gene: RNU4ATAC was set to GREEN
Added comment: Retinal dystrophy reported.
Sources: Expert Review
Anophthalmia_Microphthalmia_Coloboma v1.12 PACS1 Zornitza Stark Marked gene: PACS1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.12 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.12 PACS1 Zornitza Stark Phenotypes for gene: PACS1 were changed from 615009 to Schuurs-Hoeijmakers syndrome, MIM# 615009
Anophthalmia_Microphthalmia_Coloboma v1.11 PACS1 Zornitza Stark Classified gene: PACS1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.11 PACS1 Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence).
Mendeliome v0.10780 NCAPD3 Zornitza Stark Marked gene: NCAPD3 as ready
Mendeliome v0.10780 NCAPD3 Zornitza Stark Gene: ncapd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10780 NCAPD3 Zornitza Stark Phenotypes for gene: NCAPD3 were changed from to Microcephaly 22, primary, autosomal recessive, MIM# 617984
Mendeliome v0.10779 NCAPD3 Zornitza Stark Publications for gene: NCAPD3 were set to
Mendeliome v0.10778 NCAPD3 Zornitza Stark Mode of inheritance for gene: NCAPD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10777 NCAPD3 Zornitza Stark Classified gene: NCAPD3 as Amber List (moderate evidence)
Mendeliome v0.10777 NCAPD3 Zornitza Stark Gene: ncapd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10776 NCAPD3 Zornitza Stark reviewed gene: NCAPD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27737959; Phenotypes: Microcephaly 22, primary, autosomal recessive, MIM# 617984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.119 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Hereditary Neuropathy - complex v0.119 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.119 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Hereditary Neuropathy - complex v0.119 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.118 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 35013551
Phenotypes for gene: SLC5A6 were set to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Review for gene: SLC5A6 was set to GREEN
Added comment: Multi-system potentially treatable disorder.

Five individuals from three families reported with motor neuropathies.
Sources: Literature
Mendeliome v0.10776 CYP2C8 Zornitza Stark Marked gene: CYP2C8 as ready
Mendeliome v0.10776 CYP2C8 Zornitza Stark Gene: cyp2c8 has been classified as Red List (Low Evidence).
Mendeliome v0.10776 CYP2C8 Zornitza Stark Phenotypes for gene: CYP2C8 were changed from to {Drug metabolism, altered, CYP2C8-related} 618018
Mendeliome v0.10775 CYP2C8 Zornitza Stark Classified gene: CYP2C8 as Red List (low evidence)
Mendeliome v0.10775 CYP2C8 Zornitza Stark Gene: cyp2c8 has been classified as Red List (Low Evidence).
Mendeliome v0.10774 CYP2C8 Zornitza Stark reviewed gene: CYP2C8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Drug metabolism, altered, CYP2C8-related} 618018; Mode of inheritance: None
Fetal anomalies v0.2749 MED25 Zornitza Stark Marked gene: MED25 as ready
Fetal anomalies v0.2749 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Fetal anomalies v0.2749 MED25 Zornitza Stark Classified gene: MED25 as Green List (high evidence)
Fetal anomalies v0.2749 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Fetal anomalies v0.2748 SHMT2 Zornitza Stark Marked gene: SHMT2 as ready
Fetal anomalies v0.2748 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2748 SHMT2 Zornitza Stark Classified gene: SHMT2 as Green List (high evidence)
Fetal anomalies v0.2748 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2747 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Fetal anomalies v0.2747 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2747 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Fetal anomalies v0.2747 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2746 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Fetal anomalies v0.2746 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2746 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Fetal anomalies v0.2746 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2745 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Fetal anomalies v0.2745 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Fetal anomalies v0.2745 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from polymicrogyria; PVNH; Periventricular nodular heterotopia 9, MIM# 618918 to Polymicrogyria; Periventricular nodular heterotopia 9, MIM# 618918
Fetal anomalies v0.2744 MAP1B Zornitza Stark Classified gene: MAP1B as Green List (high evidence)
Fetal anomalies v0.2744 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Fetal anomalies v0.2743 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Fetal anomalies v0.2743 ASTN1 Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2743 ASTN1 Zornitza Stark Publications for gene: ASTN1 were set to 29706646; 11861479
Fetal anomalies v0.2742 ASTN1 Zornitza Stark Classified gene: ASTN1 as Amber List (moderate evidence)
Fetal anomalies v0.2742 ASTN1 Zornitza Stark Gene: astn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2741 PDE3A Zornitza Stark Marked gene: PDE3A as ready
Fetal anomalies v0.2741 PDE3A Zornitza Stark Gene: pde3a has been classified as Green List (High Evidence).
Fetal anomalies v0.2741 PDE3A Zornitza Stark Classified gene: PDE3A as Green List (high evidence)
Fetal anomalies v0.2741 PDE3A Zornitza Stark Gene: pde3a has been classified as Green List (High Evidence).
Fetal anomalies v0.2740 HYAL1 Zornitza Stark Marked gene: HYAL1 as ready
Fetal anomalies v0.2740 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2740 HYAL1 Zornitza Stark Phenotypes for gene: HYAL1 were changed from MUCOPOLYSACCHARIDOSIS TYPE 9 to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093
Fetal anomalies v0.2739 HYAL1 Zornitza Stark Publications for gene: HYAL1 were set to
Fetal anomalies v0.2738 FMN1 Zornitza Stark Marked gene: FMN1 as ready
Fetal anomalies v0.2738 FMN1 Zornitza Stark Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2738 FMN1 Zornitza Stark Classified gene: FMN1 as Amber List (moderate evidence)
Fetal anomalies v0.2738 FMN1 Zornitza Stark Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2737 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Fetal anomalies v0.2737 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2737 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY; MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 to HSD10 mitochondrial disease, MIM# 300438
Fetal anomalies v0.2736 HSD17B10 Zornitza Stark Classified gene: HSD17B10 as Amber List (moderate evidence)
Fetal anomalies v0.2736 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2735 HPGD Zornitza Stark Marked gene: HPGD as ready
Fetal anomalies v0.2735 HPGD Zornitza Stark Gene: hpgd has been classified as Red List (Low Evidence).
Fetal anomalies v0.2735 HPGD Zornitza Stark Phenotypes for gene: HPGD were changed from CRANIOOSTEOARTHROPATHY to Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100; Cranioosteoarthropathy MIM#259100
Fetal anomalies v0.2734 HPGD Zornitza Stark Publications for gene: HPGD were set to
Fetal anomalies v0.2733 FAT1 Zornitza Stark Marked gene: FAT1 as ready
Fetal anomalies v0.2733 FAT1 Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2733 FAT1 Zornitza Stark Classified gene: FAT1 as Green List (high evidence)
Fetal anomalies v0.2733 FAT1 Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence).
Mendeliome v0.10774 HPGD Zornitza Stark Marked gene: HPGD as ready
Mendeliome v0.10774 HPGD Zornitza Stark Gene: hpgd has been classified as Green List (High Evidence).
Mendeliome v0.10774 HPGD Zornitza Stark Phenotypes for gene: HPGD were changed from to Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100; Cranioosteoarthropathy MIM#259100
Mendeliome v0.10773 HPGD Zornitza Stark Publications for gene: HPGD were set to
Mendeliome v0.10772 HPGD Zornitza Stark Mode of inheritance for gene: HPGD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10771 GLMN Zornitza Stark Marked gene: GLMN as ready
Mendeliome v0.10771 GLMN Zornitza Stark Gene: glmn has been classified as Green List (High Evidence).
Mendeliome v0.10771 GLMN Zornitza Stark Phenotypes for gene: GLMN were changed from to Glomuvenous malformations MIM#138000
Mendeliome v0.10770 GLMN Zornitza Stark Publications for gene: GLMN were set to
Mendeliome v0.10769 GLMN Zornitza Stark Mode of inheritance for gene: GLMN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2732 GLMN Zornitza Stark Marked gene: GLMN as ready
Fetal anomalies v0.2732 GLMN Zornitza Stark Gene: glmn has been classified as Red List (Low Evidence).
Fetal anomalies v0.2732 GLMN Zornitza Stark Phenotypes for gene: GLMN were changed from GLOMUVENOUS MALFORMATIONS to Glomuvenous malformations MIM#138000
Fetal anomalies v0.2731 GLMN Zornitza Stark Mode of inheritance for gene: GLMN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2730 GLMN Zornitza Stark reviewed gene: GLMN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2730 GK Zornitza Stark Marked gene: GK as ready
Fetal anomalies v0.2730 GK Zornitza Stark Gene: gk has been classified as Red List (Low Evidence).
Fetal anomalies v0.2730 GK Zornitza Stark Phenotypes for gene: GK were changed from GLYCEROL KINASE DEFICIENCY to Glycerol kinase deficiency MIM#307030
Intellectual disability syndromic and non-syndromic v0.4461 GDI1 Zornitza Stark Marked gene: GDI1 as ready
Intellectual disability syndromic and non-syndromic v0.4461 GDI1 Zornitza Stark Gene: gdi1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4461 GDI1 Zornitza Stark Phenotypes for gene: GDI1 were changed from to Intellectual developmental disorder, X-linked 41 MIM#300849
Intellectual disability syndromic and non-syndromic v0.4460 GDI1 Zornitza Stark Publications for gene: GDI1 were set to
Fetal anomalies v0.2729 MED25 Krithika Murali gene: MED25 was added
gene: MED25 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 25792360; 32816121; 32816121; 32324310
Phenotypes for gene: MED25 were set to multiple congenital anomalies; congenital heart defects; hypospadias, thin corpus callosum, cerebral ventricular dilatation; Basel-Vanagait-Smirin-Yosef syndrome - #616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Review for gene: MED25 was set to GREEN
Added comment: Multiple individuals reported - biallelic variants associated with severe syndromic neurodevelopmental disorder diagnosed from infancy.

PMID 32324310 - report one patient with antenatal ultrasound demonstrating cleft lip and clenched hands.

Additional features associated wtih this condition that may be diagnosed antenatally include cleft palate, cardiac septal defects, hypospadias, polymicrogyria, thin corpus callosum, microcephaly and cerebral ventricular dilatation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4459 GDI1 Zornitza Stark Mode of inheritance for gene: GDI1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.4458 GDI1 Zornitza Stark reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10768 GDI1 Zornitza Stark Marked gene: GDI1 as ready
Mendeliome v0.10768 GDI1 Zornitza Stark Gene: gdi1 has been classified as Green List (High Evidence).
Mendeliome v0.10768 GDI1 Zornitza Stark Phenotypes for gene: GDI1 were changed from to Intellectual developmental disorder, X-linked 41 MIM#300849
Mendeliome v0.10767 GDI1 Zornitza Stark Publications for gene: GDI1 were set to
Mendeliome v0.10766 GDI1 Zornitza Stark Mode of inheritance for gene: GDI1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.2729 GDI1 Zornitza Stark Marked gene: GDI1 as ready
Fetal anomalies v0.2729 GDI1 Zornitza Stark Gene: gdi1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2729 GDI1 Zornitza Stark Phenotypes for gene: GDI1 were changed from MENTAL RETARDATION X-LINKED TYPE 41; MENTAL RETARDATION X-LINKED TYPE 48 to Intellectual developmental disorder, X-linked 41 MIM#300849
Fetal anomalies v0.2728 SHMT2 Krithika Murali gene: SHMT2 was added
gene: SHMT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities - #619121
Review for gene: SHMT2 was set to GREEN
Added comment: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities particularly thin corpus callosum and polymicrogyria (NEDCASB) associated with biallelic SHMT2 variants. Antenatal detection of microcephaly reported.

--
Detailed PanelApp review Oct 2020 - no new evidence to add

García‑Cazorla et al. (2020 - PMID: 33015733) report 5 individuals (from 4 families) with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants.

All affected subjects presented similar phenotype incl. microcephaly at birth (5/5 with OFC < -2 SD though in 2/5 cases N OFC was observed later), DD and ID (1/5 mild-moderate, 1/5 moderate, 3/5 severe), motor dysfunction in the form of spastic (5/5) paraparesis, ataxia/dysmetria (3/4), intention tremor (in 3/?) and/or peripheral neuropathy (2 sibs). They exhibited corpus callosum hypoplasia (5/5) and perisylvian microgyria-like pattern (4/5). Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Common dysmorphic features incl. long palpebral/fissures, eversion of lateral third of lower eylids, arched eyebrows, long eyelashes, thin upper lip, short Vth finger, fetal pads, mild 2-3 toe syndactyly, proximally placed thumbs.

Biallelic variants were identified following exome sequencing in all (other investigations not mentioned). Identified variants were in all cases missense SNVs or in-frame del, which together with evidence from population databases and mouse model might suggest a hypomorphic effect of variants and intolerance/embryonic lethality for homozygous LoF ones.

SHMT2 encodes the mitohondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF.

Mitochondrial defect was suggested by presence of ragged red fibers in myocardial biopsy of one patient. Quadriceps and myocardial biopsies of the same individual were overall suggestive of myopathic changes.

While plasma metabolites were within N range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts , decrease in glycine/serine ratios, impared folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction.

Shmt2 ko in mice was previously shown to be embryonically lethal attributed to severe mitochondrial respiration defects, although there was no observed brain metabolic defect.

The authors performed Shmt2 knockdown in motoneurons in Drosophila, demonstrating neuromuscular junction (# of satellite boutons) and motility defects (climbing distance/velocity).
Sources: Literature
Fetal anomalies v0.2728 MAST1 Krithika Murali gene: MAST1 was added
gene: MAST1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations - #61827; corpus callosum anomalies; cortical malformations; cerebellar hypoplasia
Review for gene: MAST1 was set to GREEN
Added comment: Neurodevelopmental disorder with muscular hypotonia and varying brain anomalies which may be diagnosed antenatally.

Reported cases include x1 individual reported to have hydrocephalus antenatally (PMID 32818970). MRI-B at 17 months demonstrated polymicrogyria, hyperplastic corpus callosum, progressive pontine hypoplasia and enlarged ventricles.

Another female patient reported with antenatal findings of increased nuchal translucency in a pregnancy complicated by oligohydramnios, IUGR, pre-eclampsia and pre-term delivery at 32 weeks (PMID 32198973). Postnatally diagnosed with cortical malformations without cerebellar hypoplasia.

6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene (30449657). In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1 (30449657)
Sources: Literature
Fetal anomalies v0.2728 MAPK8IP3 Krithika Murali gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30945334; 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities - #618443; cerebral atrophy; corpus callosum anomalies; polymicrogyria
Review for gene: MAPK8IP3 was set to GREEN
Added comment: 13 unrelated individuals and 5 individuals from 4 families identified with de novo heterozygous MAPK8IP3 variants. Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy and hypoplasia of the corpus callosum consistently reported in affected individuals
Sources: Literature
Fetal anomalies v0.2728 MAP1B Krithika Murali gene: MAP1B was added
gene: MAP1B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP1B were set to 31317654; 33772511; 30150678; 30214071
Phenotypes for gene: MAP1B were set to polymicrogyria; PVNH; Periventricular nodular heterotopia 9, MIM# 618918
Review for gene: MAP1B was set to GREEN
Added comment: At least 5 families described with phenotypic features that include variable brain malformations potentially detectable antenatally.
Sources: Literature
Fetal anomalies v0.2728 ASTN1 Krithika Murali reviewed gene: ASTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27431290, 26539891, 29706646, 11861479; Phenotypes: Polymicrogyria, hypoplastic corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2728 GAMT Zornitza Stark Marked gene: GAMT as ready
Fetal anomalies v0.2728 GAMT Zornitza Stark Gene: gamt has been classified as Red List (Low Evidence).
Fetal anomalies v0.2728 GAMT Zornitza Stark Phenotypes for gene: GAMT were changed from GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY to Cerebral creatine deficiency syndrome 2 MIM#612736
Fetal anomalies v0.2727 NMNAT2 Zornitza Stark Marked gene: NMNAT2 as ready
Fetal anomalies v0.2727 NMNAT2 Zornitza Stark Gene: nmnat2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2727 NMNAT2 Zornitza Stark Phenotypes for gene: NMNAT2 were changed from hydropic placenta; hydrocephalus; micrognathia; bilateral hypoplastic lungs; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; cleft palate; hydrops fetalis; flexion contractures of all extremities; cystic hygroma to Hydrops fetalis and multiple fetal anomalies; polyneuropathy; erythromelalgia
Fetal anomalies v0.2726 NMNAT2 Zornitza Stark Publications for gene: NMNAT2 were set to 31132363; 23082226; 31136762
Mendeliome v0.10765 NMNAT2 Zornitza Stark Phenotypes for gene: NMNAT2 were changed from polyneuropathy; erythromelalgia to polyneuropathy; erythromelalgia; Hydrops fetalis and multiple fetal anomalies
Fetal anomalies v0.2725 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Fetal anomalies v0.2725 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2725 NKX6-2 Zornitza Stark Phenotypes for gene: NKX6-2 were changed from Progressive Spastic Ataxia and Hypomyelination to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; MONDO:0033043
Fetal anomalies v0.2724 ASTN1 Krithika Murali Deleted their review
Fetal anomalies v0.2724 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Fetal anomalies v0.2723 NKX6-2 Zornitza Stark Classified gene: NKX6-2 as Red List (low evidence)
Fetal anomalies v0.2723 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Red List (Low Evidence).
Clefting disorders v0.170 NECTIN1 Zornitza Stark Marked gene: NECTIN1 as ready
Clefting disorders v0.170 NECTIN1 Zornitza Stark Gene: nectin1 has been classified as Green List (High Evidence).
Clefting disorders v0.170 NECTIN1 Zornitza Stark Phenotypes for gene: NECTIN1 were changed from Cleft Lip with or without Cleft Palate; CLP, partial syndactyly of digits, intellectual disability, dysmorphism; Orofacial cleft 7, 225060; Cleft lip/Palate ectodermal dysplasia syndrome, 225060; Ectodermal dysplasia, Margarita Island type; Cleft lip; Zlotogora-Ogur syndrome to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Zlotogora-Ogur syndrome
Clefting disorders v0.169 NECTIN1 Zornitza Stark Publications for gene: NECTIN1 were set to 10932188; 26953873; 11559849
Fetal anomalies v0.2722 ASTN1 Krithika Murali gene: ASTN1 was added
gene: ASTN1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTN1 were set to 29706646; 11861479
Phenotypes for gene: ASTN1 were set to Polymicrogyria; hypoplastic corpus callosum
Review for gene: ASTN1 was set to AMBER
Added comment: No OMIM gene disease association. No updated evidence since previous PanelApp review April 2020.

PMID 29706646 - Wiszniewski et al 2018 - genomic analysis of individuals with disorders of cortical development. Identified one individual with compound het ASTN1 variants with diffuse polymicrogyria, spastic tetraplegia, epilepsy and developmental delay. Second consanguineous family with two sisters with homozygous missense variant in ASTN1 had hypoplastic corpus callosum.

Animal model demonstrates abnormal neuronal migration in Astn1-/- deficient mice (PMID 11861479).
Sources: Literature
Fetal anomalies v0.2722 NECTIN1 Zornitza Stark Marked gene: NECTIN1 as ready
Fetal anomalies v0.2722 NECTIN1 Zornitza Stark Gene: nectin1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2722 NECTIN1 Zornitza Stark Phenotypes for gene: NECTIN1 were changed from Orofacial cleft 7, OMIM:225060; Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 to Orofacial cleft 7, OMIM:225060; Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060; Zlotogora-Ogur syndrome
Fetal anomalies v0.2721 NECTIN1 Zornitza Stark Publications for gene: NECTIN1 were set to
Fetal anomalies v0.2720 NECTIN1 Zornitza Stark Classified gene: NECTIN1 as Green List (high evidence)
Fetal anomalies v0.2720 NECTIN1 Zornitza Stark Gene: nectin1 has been classified as Green List (High Evidence).
Mendeliome v0.10764 NECTIN1 Zornitza Stark Marked gene: NECTIN1 as ready
Mendeliome v0.10764 NECTIN1 Zornitza Stark Gene: nectin1 has been classified as Green List (High Evidence).
Mendeliome v0.10764 NECTIN1 Zornitza Stark Phenotypes for gene: NECTIN1 were changed from to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Zlotogora-Ogur syndrome
Mendeliome v0.10763 NECTIN1 Zornitza Stark Publications for gene: NECTIN1 were set to
Mendeliome v0.10762 NECTIN1 Zornitza Stark Mode of inheritance for gene: NECTIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2719 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from Mitochondrial complex I deficiency, nuclear type 30 MIM#301021 to Mitochondrial complex I deficiency, nuclear type 30 MIM#301021; Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952)
Fetal anomalies v0.2718 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Fetal anomalies v0.2718 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Fetal anomalies v0.2718 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME to Mitochondrial complex I deficiency, nuclear type 30 MIM#301021
Fetal anomalies v0.2717 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Fetal anomalies v0.2716 NDUFB11 Zornitza Stark Classified gene: NDUFB11 as Green List (high evidence)
Fetal anomalies v0.2716 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Fetal anomalies v0.2715 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Fetal anomalies v0.2715 NAGLU Zornitza Stark Gene: naglu has been classified as Red List (Low Evidence).
Fetal anomalies v0.2715 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from MUCOPOLYSACCHARIDOSIS TYPE 3B to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Fetal anomalies v0.2714 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Fetal anomalies v0.2713 NAGLU Zornitza Stark Classified gene: NAGLU as Red List (low evidence)
Fetal anomalies v0.2713 NAGLU Zornitza Stark Gene: naglu has been classified as Red List (Low Evidence).
Fetal anomalies v0.2712 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: None
Fetal anomalies v0.2712 PDE3A Krithika Murali gene: PDE3A was added
gene: PDE3A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome - #112410
Review for gene: PDE3A was set to GREEN
Added comment: Well-established association with hypertension and brachydactyly. Brachydactyly may be detectable antenatally.
Sources: Literature
Fetal anomalies v0.2712 HYAL1 Ain Roesley reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Phenotypes: 10339581, 18344557, 21559944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2712 FMN1 Krithika Murali gene: FMN1 was added
gene: FMN1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMN1 were set to 20610440; 19383632; 15202026
Phenotypes for gene: FMN1 were set to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects
Review for gene: FMN1 was set to AMBER
Added comment: No OMIM gene-disease association. No additional evidence since last review of this gene in Sep 2021.

PMID 20610440 - a 263 Kb homozygous deletion of FMN1 reported in an individual with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Supporting null mouse model with oligosyndactyly. A large duplication including FMN1 and GREM1 reported in another individual with Cenani–Lenz syndrome.
Sources: Literature
Fetal anomalies v0.2712 HSD17B10 Ain Roesley reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Congenital Diarrhoea v1.9 AGR2 Zornitza Stark Marked gene: AGR2 as ready
Congenital Diarrhoea v1.9 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v1.9 AGR2 Zornitza Stark Classified gene: AGR2 as Green List (high evidence)
Congenital Diarrhoea v1.9 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Congenital Diarrhoea v1.8 AGR2 Zornitza Stark gene: AGR2 was added
gene: AGR2 was added to Congenital Diarrhoea. Sources: Literature
Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGR2 were set to 34952832
Phenotypes for gene: AGR2 were set to CF-like disorder
Review for gene: AGR2 was set to GREEN
Added comment: 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants.
Sources: Literature
Ciliary Dyskinesia v1.16 AGR2 Zornitza Stark Marked gene: AGR2 as ready
Ciliary Dyskinesia v1.16 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.16 AGR2 Zornitza Stark Classified gene: AGR2 as Green List (high evidence)
Ciliary Dyskinesia v1.16 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.15 AGR2 Zornitza Stark gene: AGR2 was added
gene: AGR2 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGR2 were set to 34952832
Phenotypes for gene: AGR2 were set to CF-like disorder
Review for gene: AGR2 was set to GREEN
Added comment: 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants.
Sources: Literature
Mendeliome v0.10761 AGR2 Zornitza Stark Marked gene: AGR2 as ready
Mendeliome v0.10761 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Mendeliome v0.10761 AGR2 Zornitza Stark Classified gene: AGR2 as Green List (high evidence)
Mendeliome v0.10761 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2712 HPGD Ain Roesley reviewed gene: HPGD: Rating: RED; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10760 AGR2 Zornitza Stark gene: AGR2 was added
gene: AGR2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGR2 were set to 34952832
Phenotypes for gene: AGR2 were set to CF-like disorder
Review for gene: AGR2 was set to GREEN
Added comment: 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants.
Sources: Literature
Fetal anomalies v0.2712 FAT1 Krithika Murali gene: FAT1 was added
gene: FAT1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 30862798; 26905694; 34202629; 34013115; 33418956; 32902815
Phenotypes for gene: FAT1 were set to multiple congenital anomalies; nephropathy; ocular anomalies; hand and foot anomalies
Review for gene: FAT1 was set to GREEN
Added comment: No OMIM gene-disease association, but multiple affected individuals from unrelated families reported with biallelic FAT1 variants and syndromic features consisting of ocular anomalies, hand/foot malformations and nephropathy. Although diagnosis antenatally not yet reported, some phenotypic features are detectable antenatally.

PMID: 30862798 Larouchi et al 2019 - homozygous frameshift FAT1 variants identified in 10 affected individuals from 5 unrelated consanguineous families. The patients presented with syndromic features including ocular anomalies (ptosis, microphthalmia, coloboma, amblyopia), nephropathy (FSGS, proteinuria, haematuria), toe syndactyly and facial dysmorphism. Animal models showing that deletion of Fat1 leads to coloboma in mouse and zebrafish.

PMID 26905694 Gee et al 2016 – report recessive mutations in FAT1 in four unrelated consanguineous families with a combination of steroid-resistant nephrotic syndrome, tubular ectasia, haematuria and variable neurodevelopmental findings such ID, polymicrogyria and hydrocephalus. X1 child with pulmonary stenosis.

PMID: 34202629 Peluso et al 2021 – Homozygous FAT1 frameshift variant NM_005245.4:c.9729del identified in a child of consanguineous parents with bilateral anophthalmia and hand/foot malformations including - right split foot with 4 toes, 5 metacarpals, second toe duplication and preaxial polydactyly on the right hand. Patient also had congenital heart defects including VSD, ASD and bicuspid aortic valve. Proband also had a microarray which detected a maternally inherited 350 kb 15q26.3 duplication including OMIM morbid gene CERS3 (AR condition) and part of the OMIM morbid gene ADAMTS17 (AR condition). Mother healthy, CNV unrelated to patient’s phenotype.

PMID: 34013115 Fabretti et al 2021 – report 4 patients with biallelic FAT1 variants from 3 unrelated families with syndactyly, ophthalmologic and renal phenotype consistent with previously reported cases.

PMID: 33418956 Haug et al 2021 - Genetic analysis showed that proband with phenotypic features consistent with other reported cases was compound heterozygous for a frameshift FAT1 variant and 1.8Mb 4q35.2 del including FAT1.

PMID: 32902815 Rossanti et al 2021 – Biallelic FAT1 variants reported in a child with isolated mild proteinuria and no syndromic features
Sources: Literature
Leukodystrophy - adult onset v0.98 TPP2 Zornitza Stark Marked gene: TPP2 as ready
Leukodystrophy - adult onset v0.98 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.98 TPP2 Zornitza Stark Classified gene: TPP2 as Green List (high evidence)
Leukodystrophy - adult onset v0.98 TPP2 Zornitza Stark Gene: tpp2 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.97 TPP2 Zornitza Stark gene: TPP2 was added
gene: TPP2 was added to Leukodystrophy - adult onset. Sources: Expert Review
Mode of inheritance for gene: TPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPP2 were set to 25414442
Phenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Review for gene: TPP2 was set to GREEN
Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where 4/14 presented in adulthood with white matter leasions mimicking multiple sclerosis.
Sources: Expert Review
Mendeliome v0.10759 HPGD Ain Roesley reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10759 IKZF2 Zornitza Stark Marked gene: IKZF2 as ready
Mendeliome v0.10759 IKZF2 Zornitza Stark Gene: ikzf2 has been classified as Green List (High Evidence).
Mendeliome v0.10759 IKZF2 Zornitza Stark Classified gene: IKZF2 as Green List (high evidence)
Mendeliome v0.10759 IKZF2 Zornitza Stark Gene: ikzf2 has been classified as Green List (High Evidence).
Mendeliome v0.10758 IKZF2 Zornitza Stark gene: IKZF2 was added
gene: IKZF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF2 were set to 34920454
Phenotypes for gene: IKZF2 were set to Immune dysregulation
Review for gene: IKZF2 was set to GREEN
Added comment: Six individuals with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated haemophagocytic lymphohistiocytosis reported with variants in this gene. Patients exhibited hypogammaglobulinaemia, decreased number of T-follicular helper and NK-cells.
Sources: Literature
Disorders of immune dysregulation v0.104 IKZF2 Zornitza Stark Marked gene: IKZF2 as ready
Disorders of immune dysregulation v0.104 IKZF2 Zornitza Stark Gene: ikzf2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.104 IKZF2 Zornitza Stark Classified gene: IKZF2 as Green List (high evidence)
Disorders of immune dysregulation v0.104 IKZF2 Zornitza Stark Gene: ikzf2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.103 IKZF2 Zornitza Stark gene: IKZF2 was added
gene: IKZF2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF2 were set to 34920454
Phenotypes for gene: IKZF2 were set to Immune dysregulation
Review for gene: IKZF2 was set to GREEN
Added comment: Six individuals with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated haemophagocytic lymphohistiocytosis reported with variants in this gene. Patients exhibited hypogammaglobulinaemia, decreased number of T-follicular helper and NK-cells.
Sources: Literature
Mendeliome v0.10757 RHBDF2 Zornitza Stark Marked gene: RHBDF2 as ready
Mendeliome v0.10757 RHBDF2 Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence).
Mendeliome v0.10757 RHBDF2 Zornitza Stark Phenotypes for gene: RHBDF2 were changed from to Tylosis with esophageal cancer, MIM# 148500; Immune dysregulation
Mendeliome v0.10756 RHBDF2 Zornitza Stark Publications for gene: RHBDF2 were set to
Mendeliome v0.10755 RHBDF2 Zornitza Stark Mode of inheritance for gene: RHBDF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10754 RHBDF2 Zornitza Stark reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265016, 22638770, 34937930; Phenotypes: Tylosis with esophageal cancer, MIM# 148500, Immune dysregulation; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.102 RHBDF2 Zornitza Stark Marked gene: RHBDF2 as ready
Disorders of immune dysregulation v0.102 RHBDF2 Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.102 RHBDF2 Zornitza Stark Classified gene: RHBDF2 as Green List (high evidence)
Disorders of immune dysregulation v0.102 RHBDF2 Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark changed review comment from: At least 3 families reported.; to: At least 3 families reported. Missense variants.

Note bi-allelic LoF variants are associated with immune dysregulation.
Disorders of immune dysregulation v0.101 RHBDF2 Zornitza Stark gene: RHBDF2 was added
gene: RHBDF2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: RHBDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHBDF2 were set to 34937930
Phenotypes for gene: RHBDF2 were set to Pneumonia; Colitis; Immunodeficiency
Review for gene: RHBDF2 was set to GREEN
Added comment: 4 individuals from 2 families with LoF variants in this gene and recurrent infections. Functional data including mouse model.

Note mono allelic (missense) variants in this gene are associated with tylosis.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark Marked gene: RHBDF2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark Phenotypes for gene: RHBDF2 were changed from to Tylosis with oesophageal cancer, MIM# 148500
Palmoplantar Keratoderma and Erythrokeratoderma v0.109 RHBDF2 Zornitza Stark Publications for gene: RHBDF2 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.108 RHBDF2 Zornitza Stark Mode of inheritance for gene: RHBDF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.107 RHBDF2 Zornitza Stark reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265016, 22638770; Phenotypes: Tylosis with esophageal cancer, MIM# 148500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.170 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Polymicrogyria and Schizencephaly v0.170 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.170 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400 to D-bifunctional protein deficiency - MIM#261515
Polymicrogyria and Schizencephaly v0.169 HSD17B4 Zornitza Stark Classified gene: HSD17B4 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.169 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Mendeliome v0.10754 GLMN Ain Roesley reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 11845407, 24961656, 32538359; Phenotypes: Glomuvenous malformations MIM#138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2712 GLMN Ain Roesley reviewed gene: GLMN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomuvenous malformations MIM#138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2712 GK Ain Roesley reviewed gene: GK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycerol kinase deficiency MIM#307030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Polymicrogyria and Schizencephaly v0.168 HSD17B4 Krithika Murali changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)

Sources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)

Sources: Literature
Polymicrogyria and Schizencephaly v0.168 HSD17B4 Krithika Murali changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102)
Sources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319)

Sources: Literature
Mendeliome v0.10754 GDI1 Ain Roesley reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.2712 GDI1 Ain Roesley reviewed gene: GDI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.10754 ANGPT2 Zornitza Stark Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation-10, MIM#619369; Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops
Mendeliome v0.10753 ANGPT2 Zornitza Stark Publications for gene: ANGPT2 were set to 32908006
Mendeliome v0.10752 ANGPT2 Zornitza Stark Mode of inheritance for gene: ANGPT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10751 ANGPT2 Zornitza Stark edited their review of gene: ANGPT2: Added comment: Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents.; Changed publications: 32908006, 34876502; Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema, Hydrops; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Lymphoedema_nonsyndromic v0.29 ANGPT2 Zornitza Stark Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation-10, MIM#619369; Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops
Lymphoedema_nonsyndromic v0.28 ANGPT2 Zornitza Stark Publications for gene: ANGPT2 were set to 32908006
Lymphoedema_nonsyndromic v0.27 ANGPT2 Zornitza Stark Mode of inheritance for gene: ANGPT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Lymphoedema_nonsyndromic v0.26 ANGPT2 Zornitza Stark edited their review of gene: ANGPT2: Added comment: Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents.; Changed publications: 32908006, 34876502; Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema, Hydrops; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2712 GAMT Ain Roesley reviewed gene: GAMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2 MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2712 ANGPT2 Zornitza Stark Marked gene: ANGPT2 as ready
Fetal anomalies v0.2712 ANGPT2 Zornitza Stark Gene: angpt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2712 ANGPT2 Zornitza Stark Classified gene: ANGPT2 as Green List (high evidence)
Fetal anomalies v0.2712 ANGPT2 Zornitza Stark Gene: angpt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2711 ANGPT2 Zornitza Stark gene: ANGPT2 was added
gene: ANGPT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ANGPT2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 34876502; 32908006
Phenotypes for gene: ANGPT2 were set to Hydrops; Lymphatic malformation-10, MIM#619369
Review for gene: ANGPT2 was set to GREEN
Added comment: Mono-allelic disease: association with lymphoedema in 5 unrelated individuals PMID 32908006

Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents.
Sources: Literature
Polymicrogyria and Schizencephaly v0.168 HSD17B4 Krithika Murali gene: HSD17B4 was added
gene: HSD17B4 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD17B4 were set to 27790638; 32904102
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400
Review for gene: HSD17B4 was set to GREEN
Added comment: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Polymicrogyria has been reported with DBP deficiency (PMID 32904102)
Sources: Literature
Dystonia - complex v0.206 GAMT Zornitza Stark Publications for gene: GAMT were set to 19027335
Dystonia - complex v0.205 GAMT Zornitza Stark Classified gene: GAMT as Green List (high evidence)
Dystonia - complex v0.205 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Dystonia - complex v0.204 GAMT Zornitza Stark reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 19027335, 33996490, 12557293, 19288536, 16855203; Phenotypes: Cerebral creatine deficiency syndrome 2 MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10751 BET1 Zornitza Stark Marked gene: BET1 as ready
Mendeliome v0.10751 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10751 BET1 Zornitza Stark Classified gene: BET1 as Amber List (moderate evidence)
Mendeliome v0.10751 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10750 BET1 Zornitza Stark gene: BET1 was added
gene: BET1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BET1 were set to 34779586
Phenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy
Review for gene: BET1 was set to AMBER
Added comment: Three individuals from 2 unrelated families reported.
Sources: Literature
Genetic Epilepsy v0.1427 BET1 Zornitza Stark Marked gene: BET1 as ready
Genetic Epilepsy v0.1427 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1427 BET1 Zornitza Stark Classified gene: BET1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1427 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1426 BET1 Zornitza Stark gene: BET1 was added
gene: BET1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BET1 were set to 34779586
Phenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy
Review for gene: BET1 was set to AMBER
Added comment: Three individuals from 2 unrelated families reported.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v0.96 BET1 Zornitza Stark Marked gene: BET1 as ready
Muscular dystrophy and myopathy_Paediatric v0.96 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.96 BET1 Zornitza Stark Classified gene: BET1 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.96 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.95 BET1 Zornitza Stark gene: BET1 was added
gene: BET1 was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BET1 were set to 34779586
Phenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy
Review for gene: BET1 was set to AMBER
Added comment: Three individuals from 2 unrelated families reported.
Sources: Literature
Dystonia - complex v0.204 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive MIM#614487 to Spastic ataxia 5, autosomal recessive MIM#614487; Early-onset dystonia
Dystonia - complex v0.203 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to 22964162; 16541453
Dystonia - complex v0.202 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia - complex v0.201 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: 32219868; Phenotypes: Early-onset dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2710 NMNAT2 Ain Roesley reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31136762, 31132363, 25271157, 20126265; Phenotypes: Hydrops fetalis and multiple fetal anomalies, polyneuropathy, erythromelalgia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10749 NMNAT2 Ain Roesley reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31136762; Phenotypes: Hydrops fetalis and multiple fetal anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2710 NKX6-2 Ain Roesley reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560, MONDO:0033043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Clefting disorders v0.168 NECTIN1 Ain Roesley reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2710 NECTIN1 Ain Roesley reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10749 NECTIN1 Ain Roesley reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2710 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Fetal anomalies v0.2710 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2710 IGF2 Zornitza Stark Phenotypes for gene: IGF2 were changed from BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME to Growth restriction, severe, with distinctive facies, MIM#616489
Fetal anomalies v0.2709 IGF2 Zornitza Stark Publications for gene: IGF2 were set to
Fetal anomalies v0.2708 IGF2 Zornitza Stark changed review comment from: SRS phenotype, not associated with significant ID.; to: SRS phenotype.
Fetal anomalies v0.2708 IGF2 Zornitza Stark edited their review of gene: IGF2: Changed rating: GREEN
Fetal anomalies v0.2708 IGF1R Zornitza Stark Marked gene: IGF1R as ready
Fetal anomalies v0.2708 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
Fetal anomalies v0.2708 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO to Insulin-like growth factor I, resistance to, MIM# 270450
Fetal anomalies v0.2707 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Fetal anomalies v0.2706 IGF1 Zornitza Stark Marked gene: IGF1 as ready
Fetal anomalies v0.2706 IGF1 Zornitza Stark Gene: igf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2706 IGF1 Zornitza Stark Phenotypes for gene: IGF1 were changed from INSULIN-LIKE GROWTH FACTOR I DEFICIENCY to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747
Fetal anomalies v0.2705 IGF1 Zornitza Stark Publications for gene: IGF1 were set to
Fetal anomalies v0.2704 IGF1 Zornitza Stark Mode of inheritance for gene: IGF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2703 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Fetal anomalies v0.2703 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Fetal anomalies v0.2703 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from ASPHYXIATING THORACIC DYSTROPHY 2 to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Fetal anomalies v0.2702 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Fetal anomalies v0.2701 IFT43 Zornitza Stark Marked gene: IFT43 as ready
Fetal anomalies v0.2701 IFT43 Zornitza Stark Gene: ift43 has been classified as Green List (High Evidence).
Fetal anomalies v0.2701 IFT43 Zornitza Stark Phenotypes for gene: IFT43 were changed from CRANIOECTODERMAL DYSPLASIA TYPE 3 to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099
Fetal anomalies v0.2700 IFT43 Zornitza Stark Publications for gene: IFT43 were set to
Fetal anomalies v0.2699 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Fetal anomalies v0.2699 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Fetal anomalies v0.2699 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from JEUNE SYNDROME; MAINZER-SALDINO SYNDROME to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630; Bardet-Biedl syndrome
Fetal anomalies v0.2698 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Fetal anomalies v0.2697 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Fetal anomalies v0.2697 IFT122 Zornitza Stark Gene: ift122 has been classified as Green List (High Evidence).
Fetal anomalies v0.2697 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from CRANIOECTODERMAL DYSPLASIA to Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome
Fetal anomalies v0.2696 IFT122 Zornitza Stark Publications for gene: IFT122 were set to
Fetal anomalies v0.2695 IFITM5 Zornitza Stark Tag 5'UTR tag was added to gene: IFITM5.
Fetal anomalies v0.2695 IFITM5 Zornitza Stark Marked gene: IFITM5 as ready
Fetal anomalies v0.2695 IFITM5 Zornitza Stark Gene: ifitm5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2695 IFITM5 Zornitza Stark Phenotypes for gene: IFITM5 were changed from OSTEOGENESIS IMPERFECTA TYPE V to Osteogenesis imperfecta, type V MIM#610967
Fetal anomalies v0.2694 IFITM5 Zornitza Stark Publications for gene: IFITM5 were set to
Fetal anomalies v0.2693 IFITM5 Zornitza Stark Mode of inheritance for gene: IFITM5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2692 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Fetal anomalies v0.2692 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2692 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy, and diabetes syndrome 614231 to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
Fetal anomalies v0.2691 IER3IP1 Zornitza Stark Publications for gene: IER3IP1 were set to
Mendeliome v0.10749 PAX8 Zornitza Stark Marked gene: PAX8 as ready
Mendeliome v0.10749 PAX8 Zornitza Stark Gene: pax8 has been classified as Green List (High Evidence).
Mendeliome v0.10749 PAX8 Zornitza Stark Phenotypes for gene: PAX8 were changed from to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Mendeliome v0.10748 PAX8 Zornitza Stark Publications for gene: PAX8 were set to
Mendeliome v0.10747 PAX8 Zornitza Stark Mode of inheritance for gene: PAX8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10746 PAX8 Zornitza Stark reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33434492, 9590296, 11232006, 15356023, 15718293; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700, Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2690 PAX8 Zornitza Stark Phenotypes for gene: PAX8 were changed from Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Fetal anomalies v0.2689 PAX8 Zornitza Stark Publications for gene: PAX8 were set to
Fetal anomalies v0.2688 PAX8 Zornitza Stark Classified gene: PAX8 as Amber List (moderate evidence)
Fetal anomalies v0.2688 PAX8 Zornitza Stark Gene: pax8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2687 PAX8 Zornitza Stark changed review comment from: Typically presents post-natally.; to: Isolated congenital hypothyroidism typically presents post-natally.

However note PMID 33434492 reports 5 individuals identified in large cohorts with MRKHS and likely deleterious variants in PAX8. At least one of the individuals had congenital hypothyroidism together with features of MRKHS.
Fetal anomalies v0.2687 PAX8 Zornitza Stark edited their review of gene: PAX8: Changed rating: AMBER; Changed publications: 33434492; Changed phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700, Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Fetal anomalies v0.2687 PAX8 Zornitza Stark Marked gene: PAX8 as ready
Fetal anomalies v0.2687 PAX8 Zornitza Stark Gene: pax8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2687 PAX8 Zornitza Stark Phenotypes for gene: PAX8 were changed from CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700
Fetal anomalies v0.2686 PAX8 Zornitza Stark Mode of inheritance for gene: PAX8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2685 PAX8 Zornitza Stark Classified gene: PAX8 as Red List (low evidence)
Fetal anomalies v0.2685 PAX8 Zornitza Stark Gene: pax8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2684 PAX8 Zornitza Stark reviewed gene: PAX8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2684 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Fetal anomalies v0.2684 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2684 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from COLOBOMA OF OPTIC NERVE; FOVEAL HYPOPLASIA; ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY; PETERS ANOMALY; KERATITIS HEREDITARY; ANIRIDIA; BILATERAL OPTIC NERVE HYPOPLASIA to Microphthalmia; Coloboma, ocular, MIM# 120200
Fetal anomalies v0.2683 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Fetal anomalies v0.2682 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2681 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Fetal anomalies v0.2681 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2681 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from CRANIOFACIAL-DEAFNESS-HAND SYNDROME; WAARDENBURG SYNDROME, TYPE 1 to Craniofacial-deafness-hand syndrome, MIM#122880; Waardenburg syndrome, type 1, MIM#193500; Waardenburg syndrome, type 3, MIM#148820
Fetal anomalies v0.2680 PAX3 Zornitza Stark Mode of inheritance for gene: PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2679 PAX3 Zornitza Stark changed review comment from: ID is not part of the phenotype.; to: Skeletal abnormalities are part of the phenotype.
Fetal anomalies v0.2679 PAX3 Zornitza Stark edited their review of gene: PAX3: Changed rating: GREEN
Mendeliome v0.10746 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Mendeliome v0.10746 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Green List (High Evidence).
Mendeliome v0.10746 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Mendeliome v0.10745 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Mendeliome v0.10744 PAPSS2 Zornitza Stark Mode of inheritance for gene: PAPSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10743 PAPSS2 Zornitza Stark reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22791835, 25594860, 31461705, 23633440, 9771708, 19474428; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2679 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Fetal anomalies v0.2679 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2679 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Fetal anomalies v0.2678 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Fetal anomalies v0.2677 PAPSS2 Zornitza Stark reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2677 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Fetal anomalies v0.2677 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2677 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP N to Fanconi anaemia, complementation group N, MIM# 610832
Fetal anomalies v0.2676 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Fetal anomalies v0.2676 PAK3 Zornitza Stark Gene: pak3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2676 PAK3 Zornitza Stark changed review comment from: Well established gene-disease association, over 20 families reported.

PMID: 31943058 (2020) - Animal mouse model with a hemizygous variant (p.R67C) in the Pak3 gene, recapitulated some features of the human ID phenotype. Mutant male mice exhibited impairments in long-term spatial memory and pattern separation function, suggestive of altered hippocampal neurogenesis. Analysing critical periods of hippocampal neurogenesis revealed dysfunctional maturation and learning-associated recruitment, as well as accelerated death of selective populations of adult-born hippocampal neurons - offering a possible mechanism to the observed cognitive impairments.; to: Well established gene-disease association, over 20 families reported. Prenatal presentation with agenesis of corpus callosum reported, PMID 31843706.

PMID: 31943058 (2020) - Animal mouse model with a hemizygous variant (p.R67C) in the Pak3 gene, recapitulated some features of the human ID phenotype. Mutant male mice exhibited impairments in long-term spatial memory and pattern separation function, suggestive of altered hippocampal neurogenesis. Analysing critical periods of hippocampal neurogenesis revealed dysfunctional maturation and learning-associated recruitment, as well as accelerated death of selective populations of adult-born hippocampal neurons - offering a possible mechanism to the observed cognitive impairments.
Fetal anomalies v0.2676 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from AGENESIS OF THE CORPUS CALLOSUM; MENTAL RETARDATION X-LINKED TYPE 30 to Mental retardation, X-linked 30/47, MIM# 300558; Agenesis of the corpus callosum
Fetal anomalies v0.2675 PAK3 Zornitza Stark Publications for gene: PAK3 were set to 24556213
Fetal anomalies v0.2674 PAFAH1B1 Zornitza Stark Marked gene: PAFAH1B1 as ready
Fetal anomalies v0.2674 PAFAH1B1 Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2674 PAFAH1B1 Zornitza Stark Phenotypes for gene: PAFAH1B1 were changed from SUBCORTICAL BAND HETEROTOPIA; LISSENCEPHALY TYPE 1 to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830
Fetal anomalies v0.2673 PAFAH1B1 Zornitza Stark Publications for gene: PAFAH1B1 were set to
Fetal anomalies v0.2672 PAFAH1B1 Zornitza Stark Mode of inheritance for gene: PAFAH1B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2671 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Fetal anomalies v0.2671 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2671 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from MICROPHTHALMIA SYNDROMIC TYPE 5 to Microphthalmia, syndromic 5, MIM# 610125
Fetal anomalies v0.2670 OTX2 Zornitza Stark Publications for gene: OTX2 were set to
Fetal anomalies v0.2669 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2668 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Fetal anomalies v0.2668 ORC6 Zornitza Stark Gene: orc6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2668 ORC6 Zornitza Stark Phenotypes for gene: ORC6 were changed from MEIER-GORLIN SYNDROME 3 to Meier-Gorlin syndrome 3, MIM# 613803
Fetal anomalies v0.2667 ORC4 Zornitza Stark Marked gene: ORC4 as ready
Fetal anomalies v0.2667 ORC4 Zornitza Stark Gene: orc4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2667 ORC4 Zornitza Stark Phenotypes for gene: ORC4 were changed from MEIER-GORLIN SYNDROME 2 to Meier-Gorlin syndrome 2, MIM# 613800; MONDO:0013428
Fetal anomalies v0.2666 ORC1 Zornitza Stark Marked gene: ORC1 as ready
Fetal anomalies v0.2666 ORC1 Zornitza Stark Gene: orc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2666 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from MEIER-GORLIN SYNDROME 1 to Meier-Gorlin syndrome 1, MIM# 224690
Fetal anomalies v0.2665 ORC1 Zornitza Stark changed review comment from: Intellect typically normal.; to: IUGR is a feature.
Fetal anomalies v0.2665 ORC1 Zornitza Stark edited their review of gene: ORC1: Changed rating: GREEN
Fetal anomalies v0.2665 NDUFB11 Ain Roesley reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30423443, 25772934, 28050600); Phenotypes: Mitochondrial complex I deficiency, nuclear type 30 MIM#301021; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Fetal anomalies v0.2665 NAGLU Ain Roesley reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: None; Publications: 8650226; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10743 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to 28275242; 23281071
Mendeliome v0.10742 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Green List (high evidence)
Mendeliome v0.10742 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Green List (High Evidence).
Mendeliome v0.10741 UQCRC2 Zornitza Stark edited their review of gene: UQCRC2: Added comment: Third family with different variant reported, together with functional data.; Changed rating: GREEN; Changed publications: 28275242, 23281071, 33865955
Mitochondrial disease v0.688 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to 28275242; 23281071
Mitochondrial disease v0.687 UQCRC2 Zornitza Stark Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.686 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Green List (high evidence)
Mitochondrial disease v0.686 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Green List (High Evidence).
Mendeliome v0.10741 DNHD1 Zornitza Stark Phenotypes for gene: DNHD1 were changed from Male infertility due to sperm motility disorder (MONDO:0018395) to Spermatogenic failure 65, MIM# 619712
Mendeliome v0.10740 DNHD1 Zornitza Stark reviewed gene: DNHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 65, MIM# 619712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.30 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw MIM#615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Intellectual disability syndromic and non-syndromic v0.4458 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw; OMIM #615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Mendeliome v0.10740 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw MIM#615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Macrocephaly_Megalencephaly v0.100 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw MIM#615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Macrocephaly_Megalencephaly v0.99 STT3A Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iw, AR, OMIM #615596, Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.23 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw; OMIM #615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Congenital Disorders of Glycosylation v1.22 STT3A Zornitza Stark edited their review of gene: STT3A: Changed phenotypes: Congenital disorder of glycosylation, type Iw, AR, OMIM #615596, Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Ectodermal Dysplasia v0.66 CHD1 Chirag Patel Classified gene: CHD1 as Red List (low evidence)
Ectodermal Dysplasia v0.66 CHD1 Chirag Patel Gene: chd1 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.65 CHD1 Chirag Patel reviewed gene: CHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2665 WNT1 Zornitza Stark Deleted their review
Fetal anomalies v0.2665 WNT5A Zornitza Stark changed review comment from: LD/ID reported in ~20% according to this cohort/literature review.; to: Robinow syndrome is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies.
Fetal anomalies v0.2665 WNT7A Zornitza Stark changed review comment from: Although WNT7A-related conditions cause ulnar abnormalities, include in this panel due to phenotypic overlap (single forearm bone may be difficult to distinguish, particularly in non-specialist setting).
Sources: Expert list; to: Limb anomalies.


Sources: Expert list
Fetal anomalies v0.2665 ZIC1 Zornitza Stark Deleted their review
Fetal anomalies v0.2665 ZNF462 Zornitza Stark changed review comment from: 1 family (4 affected members), Weiss et al. (2017) identified a heterozygous nonsense ZNF462 mutation.
3 additional unrelated patients with a similar phenotype with heterozygous ZNF462 mutations.
14 unrelated patients with WSKA, Kruszka et al. (2019) identified heterozygous loss-of-function ZNF462 mutations.; to: 1 family (4 affected members), Weiss et al. (2017) identified a heterozygous nonsense ZNF462 mutation.
3 additional unrelated patients with a similar phenotype with heterozygous ZNF462 mutations.
14 unrelated patients with WSKA, Kruszka et al. (2019) identified heterozygous loss-of-function ZNF462 mutations.

Multiple congenital anomalies syndrome.
Fetal anomalies v0.2665 FOXL2 Zornitza Stark Marked gene: FOXL2 as ready
Fetal anomalies v0.2665 FOXL2 Zornitza Stark Gene: foxl2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2665 FOXL2 Zornitza Stark Phenotypes for gene: FOXL2 were changed from BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME to Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100)
Fetal anomalies v0.2664 FOXL2 Zornitza Stark Publications for gene: FOXL2 were set to
Fetal anomalies v0.2663 FOXL2 Zornitza Stark Mode of inheritance for gene: FOXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2662 FOXL2 Zornitza Stark Classified gene: FOXL2 as Red List (low evidence)
Fetal anomalies v0.2662 FOXL2 Zornitza Stark Gene: foxl2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2661 FN1 Zornitza Stark Marked gene: FN1 as ready
Fetal anomalies v0.2661 FN1 Zornitza Stark Gene: fn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2661 FN1 Zornitza Stark Phenotypes for gene: FN1 were changed from Spondylometaphyseal Dysplasia with Corner Fractures to Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)
Fetal anomalies v0.2660 FN1 Zornitza Stark Publications for gene: FN1 were set to
Fetal anomalies v0.2659 FN1 Zornitza Stark Mode of inheritance for gene: FN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2658 FN1 Zornitza Stark reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33605604; Phenotypes: Spondylometaphyseal dysplasia, corner fracture type (MIM#184255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4457 FMN2 Zornitza Stark Marked gene: FMN2 as ready
Intellectual disability syndromic and non-syndromic v0.4457 FMN2 Zornitza Stark Gene: fmn2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4457 FMN2 Zornitza Stark Phenotypes for gene: FMN2 were changed from to Intellectual developmental disorder, autosomal recessive 47, MIM#616193
Intellectual disability syndromic and non-syndromic v0.4456 FMN2 Zornitza Stark Publications for gene: FMN2 were set to
Intellectual disability syndromic and non-syndromic v0.4455 FMN2 Zornitza Stark Mode of inheritance for gene: FMN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4454 FMN2 Zornitza Stark reviewed gene: FMN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480035, 32162566, 24161494; Phenotypes: Intellectual developmental disorder, autosomal recessive 47, MIM#616193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10739 FMN2 Zornitza Stark Marked gene: FMN2 as ready
Mendeliome v0.10739 FMN2 Zornitza Stark Gene: fmn2 has been classified as Green List (High Evidence).
Mendeliome v0.10739 FMN2 Zornitza Stark Phenotypes for gene: FMN2 were changed from to Intellectual developmental disorder, autosomal recessive 47, MIM#616193
Mendeliome v0.10738 FMN2 Zornitza Stark Publications for gene: FMN2 were set to
Mendeliome v0.10737 FMN2 Zornitza Stark Mode of inheritance for gene: FMN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10736 FMN2 Zornitza Stark reviewed gene: FMN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480035, 32162566, 24161494; Phenotypes: Intellectual developmental disorder, autosomal recessive 47, MIM#616193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2658 FMN2 Zornitza Stark Marked gene: FMN2 as ready
Fetal anomalies v0.2658 FMN2 Zornitza Stark Gene: fmn2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2658 FMN2 Zornitza Stark Phenotypes for gene: FMN2 were changed from NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal recessive 47, MIM#616193
Fetal anomalies v0.2657 FMN2 Zornitza Stark Publications for gene: FMN2 were set to
Fetal anomalies v0.2656 FMN2 Zornitza Stark Classified gene: FMN2 as Red List (low evidence)
Fetal anomalies v0.2656 FMN2 Zornitza Stark Gene: fmn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10736 HAND1 Zornitza Stark Marked gene: HAND1 as ready
Mendeliome v0.10736 HAND1 Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10736 HAND1 Zornitza Stark Classified gene: HAND1 as Amber List (moderate evidence)
Mendeliome v0.10736 HAND1 Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10735 HAND1 Zornitza Stark Mode of inheritance for gene: HAND1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10734 HAND1 Zornitza Stark Publications for gene: HAND1 were set to
Mendeliome v0.10733 HAND1 Zornitza Stark Phenotypes for gene: HAND1 were changed from to Congenital heart disease, MONDO:0005453
Congenital Heart Defect v0.183 HAND1 Zornitza Stark Phenotypes for gene: HAND1 were changed from Congenital heart disease to Congenital heart disease, MONDO:0005453
Fetal anomalies v0.2655 HAND1 Zornitza Stark Marked gene: HAND1 as ready
Fetal anomalies v0.2655 HAND1 Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2655 HAND1 Zornitza Stark Phenotypes for gene: HAND1 were changed from Congenital heart defects to Congenital heart disease, MONDO:0005453
Fetal anomalies v0.2654 HAND1 Zornitza Stark Publications for gene: HAND1 were set to 19586923; 28112363; 18276607; 27942761; 31286141
Fetal anomalies v0.2653 HAND1 Zornitza Stark Classified gene: HAND1 as Amber List (moderate evidence)
Fetal anomalies v0.2653 HAND1 Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.182 HAND1 Zornitza Stark Marked gene: HAND1 as ready
Congenital Heart Defect v0.182 HAND1 Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.182 HAND1 Zornitza Stark Phenotypes for gene: HAND1 were changed from to Congenital heart disease
Congenital Heart Defect v0.181 HAND1 Zornitza Stark Publications for gene: HAND1 were set to
Congenital Heart Defect v0.180 HAND1 Zornitza Stark Mode of inheritance for gene: HAND1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.179 HAND1 Zornitza Stark Classified gene: HAND1 as Amber List (moderate evidence)
Congenital Heart Defect v0.179 HAND1 Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2652 FKBP8 Zornitza Stark Mode of inheritance for gene: FKBP8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2651 FKBP8 Zornitza Stark Classified gene: FKBP8 as Amber List (moderate evidence)
Fetal anomalies v0.2651 FKBP8 Zornitza Stark Gene: fkbp8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2650 FKBP8 Zornitza Stark reviewed gene: FKBP8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spina bifida, MONDO:0008449; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2650 FKBP8 Zornitza Stark Marked gene: FKBP8 as ready
Fetal anomalies v0.2650 FKBP8 Zornitza Stark Gene: fkbp8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2650 FKBP8 Zornitza Stark Phenotypes for gene: FKBP8 were changed from Spina bifida, HP:0002414; Vertebral segmentation defects to Spina bifida, MONDO:0008449
Fetal anomalies v0.2649 FKBP8 Zornitza Stark Classified gene: FKBP8 as Red List (low evidence)
Fetal anomalies v0.2649 FKBP8 Zornitza Stark Gene: fkbp8 has been classified as Red List (Low Evidence).
Mendeliome v0.10732 ILK Zornitza Stark Marked gene: ILK as ready
Mendeliome v0.10732 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Mendeliome v0.10732 ILK Zornitza Stark Phenotypes for gene: ILK were changed from to Dilated cardiomyopathy
Mendeliome v0.10731 ILK Zornitza Stark Publications for gene: ILK were set to
Mendeliome v0.10730 ILK Zornitza Stark Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10729 ILK Zornitza Stark Classified gene: ILK as Red List (low evidence)
Mendeliome v0.10729 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Mendeliome v0.10728 ILK Zornitza Stark reviewed gene: ILK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: None
Mendeliome v0.10728 ZIC4 Zornitza Stark Marked gene: ZIC4 as ready
Mendeliome v0.10728 ZIC4 Zornitza Stark Added comment: Comment when marking as ready: Two individuals reported with a deletion of ZIC1 and ZIC4 and Dandy-Walker malformation.
Mendeliome v0.10728 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Mendeliome v0.10728 ZIC4 Zornitza Stark Publications for gene: ZIC4 were set to
Mendeliome v0.10727 ZIC4 Zornitza Stark Classified gene: ZIC4 as Red List (low evidence)
Mendeliome v0.10727 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Regression v0.393 ZIC4 Zornitza Stark Marked gene: ZIC4 as ready
Regression v0.393 ZIC4 Zornitza Stark Added comment: Comment when marking as ready: Two individuals with deletions of ZIC4 and ZIC1 reported with Dandy-Walker malformation.
Regression v0.393 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Regression v0.393 ZIC4 Zornitza Stark Publications for gene: ZIC4 were set to
Regression v0.392 ZIC4 Zornitza Stark Classified gene: ZIC4 as Red List (low evidence)
Regression v0.392 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Mendeliome v0.10726 FKBP10 Zornitza Stark Marked gene: FKBP10 as ready
Mendeliome v0.10726 FKBP10 Zornitza Stark Gene: fkbp10 has been classified as Green List (High Evidence).
Mendeliome v0.10726 FKBP10 Zornitza Stark Phenotypes for gene: FKBP10 were changed from to Bruck syndrome 1, MONDO:0009806; Osteogenesis imperfecta, type XI, OMIM:610968; Osteogenesis imperfecta type 11, MONDO:0012592; Bruck syndrome 1, OMIM:259450
Mendeliome v0.10725 FKBP10 Zornitza Stark Publications for gene: FKBP10 were set to
Mendeliome v0.10724 FKBP10 Zornitza Stark Mode of inheritance for gene: FKBP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10723 FKBP10 Zornitza Stark reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20696291, 20362275, 20839288, 21567934, 21567934, 23712425, 22718341; Phenotypes: Bruck syndrome 1, MONDO:0009806, Osteogenesis imperfecta, type XI, OMIM:610968, Osteogenesis imperfecta type 11, MONDO:0012592, Bruck syndrome 1, OMIM:259450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2648 FKBP10 Zornitza Stark Marked gene: FKBP10 as ready
Fetal anomalies v0.2648 FKBP10 Zornitza Stark Gene: fkbp10 has been classified as Green List (High Evidence).
Fetal anomalies v0.2648 FKBP10 Zornitza Stark Publications for gene: FKBP10 were set to
Fetal anomalies v0.2647 FKBP10 Zornitza Stark Classified gene: FKBP10 as Green List (high evidence)
Fetal anomalies v0.2647 FKBP10 Zornitza Stark Gene: fkbp10 has been classified as Green List (High Evidence).
Fetal anomalies v0.2646 FGF9 Zornitza Stark Marked gene: FGF9 as ready
Fetal anomalies v0.2646 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Fetal anomalies v0.2646 FGF9 Zornitza Stark Phenotypes for gene: FGF9 were changed from MULTIPLE SYNOSTOSES SYNDROME TYPE 3 to Multiple synostoses syndrome 3, OMIM # 612961; Craniosynostosis
Fetal anomalies v0.2645 FGF9 Zornitza Stark Publications for gene: FGF9 were set to
Fetal anomalies v0.2644 FGF9 Zornitza Stark Mode of inheritance for gene: FGF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2643 FGF9 Zornitza Stark Classified gene: FGF9 as Green List (high evidence)
Fetal anomalies v0.2643 FGF9 Zornitza Stark Gene: fgf9 has been classified as Green List (High Evidence).
Mendeliome v0.10723 FAM46A Zornitza Stark Marked gene: FAM46A as ready
Mendeliome v0.10723 FAM46A Zornitza Stark Gene: fam46a has been classified as Green List (High Evidence).
Mendeliome v0.10723 FAM46A Zornitza Stark Phenotypes for gene: FAM46A were changed from to Osteogenesis imperfecta, type XVIII MIM#617952
Mendeliome v0.10722 FAM46A Zornitza Stark Publications for gene: FAM46A were set to
Mendeliome v0.10721 FAM46A Zornitza Stark Mode of inheritance for gene: FAM46A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10720 FAM46A Zornitza Stark Tag new gene name tag was added to gene: FAM46A.
Fetal anomalies v0.2642 FAM46A Zornitza Stark Tag new gene name tag was added to gene: FAM46A.
Fetal anomalies v0.2642 FAM46A Zornitza Stark Marked gene: FAM46A as ready
Fetal anomalies v0.2642 FAM46A Zornitza Stark Gene: fam46a has been classified as Green List (High Evidence).
Fetal anomalies v0.2642 FAM46A Zornitza Stark Publications for gene: FAM46A were set to
Fetal anomalies v0.2641 FAM46A Zornitza Stark Classified gene: FAM46A as Green List (high evidence)
Fetal anomalies v0.2641 FAM46A Zornitza Stark Gene: fam46a has been classified as Green List (High Evidence).
Mendeliome v0.10720 DYNC1I1 Zornitza Stark Marked gene: DYNC1I1 as ready
Mendeliome v0.10720 DYNC1I1 Zornitza Stark Gene: dync1i1 has been classified as Green List (High Evidence).
Mendeliome v0.10720 DYNC1I1 Zornitza Stark Classified gene: DYNC1I1 as Green List (high evidence)
Mendeliome v0.10720 DYNC1I1 Zornitza Stark Gene: dync1i1 has been classified as Green List (High Evidence).
Mendeliome v0.10719 DYNC1I1 Zornitza Stark Tag SV/CNV tag was added to gene: DYNC1I1.
Fetal anomalies v0.2640 DYNC1I1 Zornitza Stark Marked gene: DYNC1I1 as ready
Fetal anomalies v0.2640 DYNC1I1 Zornitza Stark Gene: dync1i1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2640 DYNC1I1 Zornitza Stark Classified gene: DYNC1I1 as Green List (high evidence)
Fetal anomalies v0.2640 DYNC1I1 Zornitza Stark Gene: dync1i1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2639 DYNC1I1 Zornitza Stark Tag SV/CNV tag was added to gene: DYNC1I1.
Mendeliome v0.10719 GATA5 Zornitza Stark Marked gene: GATA5 as ready
Mendeliome v0.10719 GATA5 Zornitza Stark Gene: gata5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10719 GATA5 Zornitza Stark Phenotypes for gene: GATA5 were changed from to Congenital heart defects, multiple types, 5 - #617912
Mendeliome v0.10718 GATA5 Zornitza Stark Publications for gene: GATA5 were set to
Mendeliome v0.10717 GATA5 Zornitza Stark Mode of inheritance for gene: GATA5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10716 GATA5 Zornitza Stark Classified gene: GATA5 as Amber List (moderate evidence)
Mendeliome v0.10716 GATA5 Zornitza Stark Gene: gata5 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.178 GATA5 Zornitza Stark Marked gene: GATA5 as ready
Congenital Heart Defect v0.178 GATA5 Zornitza Stark Gene: gata5 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.178 GATA5 Zornitza Stark Phenotypes for gene: GATA5 were changed from to Congenital heart defects, multiple types, 5 - #617912
Congenital Heart Defect v0.177 GATA5 Zornitza Stark Publications for gene: GATA5 were set to
Congenital Heart Defect v0.176 GATA5 Zornitza Stark Mode of inheritance for gene: GATA5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.175 GATA5 Zornitza Stark Classified gene: GATA5 as Amber List (moderate evidence)
Congenital Heart Defect v0.175 GATA5 Zornitza Stark Gene: gata5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2639 GATA5 Zornitza Stark Marked gene: GATA5 as ready
Fetal anomalies v0.2639 GATA5 Zornitza Stark Gene: gata5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2639 GATA5 Zornitza Stark Phenotypes for gene: GATA5 were changed from Congenital heart defects, multiple types, 5 - #617912 to Congenital heart defects, multiple types, 5 - MIM#617912
Fetal anomalies v0.2638 GATA5 Zornitza Stark Publications for gene: GATA5 were set to 27066509; 23289003; 22961344; 23031282
Fetal anomalies v0.2637 GATA5 Zornitza Stark Classified gene: GATA5 as Amber List (moderate evidence)
Fetal anomalies v0.2637 GATA5 Zornitza Stark Gene: gata5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2636 MYPN Zornitza Stark Marked gene: MYPN as ready
Fetal anomalies v0.2636 MYPN Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence).
Fetal anomalies v0.2636 MYPN Zornitza Stark Phenotypes for gene: MYPN were changed from Nemaline myopathy 11, autosomal recessive, 617336 to Nemaline myopathy 11, autosomal recessive, MIM# 617336
Fetal anomalies v0.2635 MYPN Zornitza Stark Publications for gene: MYPN were set to
Fetal anomalies v0.2634 MYPN Zornitza Stark Classified gene: MYPN as Red List (low evidence)
Fetal anomalies v0.2634 MYPN Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence).
Fetal anomalies v0.2633 MYPN Zornitza Stark reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.685 UQCRC2 John Christodoulou reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33865955; Phenotypes: motor delay, developmental delay, symmetric necrotic lesions in the brain stem suggesting Leigh-like syndrome, strabismus, cerebellar signs, lactic academia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10715 MYPN Zornitza Stark Marked gene: MYPN as ready
Mendeliome v0.10715 MYPN Zornitza Stark Gene: mypn has been classified as Green List (High Evidence).
Mendeliome v0.10715 MYPN Zornitza Stark Phenotypes for gene: MYPN were changed from to Nemaline myopathy 11, autosomal recessive MIM#617336 AR; cardiomyopathy MIM#615248 AD
Mendeliome v0.10714 MYPN Zornitza Stark Mode of inheritance for gene: MYPN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.2633 MYOD1 Zornitza Stark Marked gene: MYOD1 as ready
Fetal anomalies v0.2633 MYOD1 Zornitza Stark Gene: myod1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2633 MYOD1 Zornitza Stark Classified gene: MYOD1 as Green List (high evidence)
Fetal anomalies v0.2633 MYOD1 Zornitza Stark Gene: myod1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2632 MYO18B Zornitza Stark Marked gene: MYO18B as ready
Fetal anomalies v0.2632 MYO18B Zornitza Stark Gene: myo18b has been classified as Green List (High Evidence).
Fetal anomalies v0.2632 MYO18B Zornitza Stark Publications for gene: MYO18B were set to 27858739; 25748484; 27879346
Fetal anomalies v0.2631 MYO18B Zornitza Stark Classified gene: MYO18B as Green List (high evidence)
Fetal anomalies v0.2631 MYO18B Zornitza Stark Gene: myo18b has been classified as Green List (High Evidence).
Fetal anomalies v0.2630 MYLK Zornitza Stark Marked gene: MYLK as ready
Fetal anomalies v0.2630 MYLK Zornitza Stark Gene: mylk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2630 MYLK Zornitza Stark Phenotypes for gene: MYLK were changed from MMIH; Megacystis Microcolon Intestinal Hypoperistalsis Syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210
Fetal anomalies v0.2629 MECR Ain Roesley edited their review of gene: MECR: Changed phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MIM#617282
Fetal anomalies v0.2629 MYL9 Zornitza Stark Marked gene: MYL9 as ready
Fetal anomalies v0.2629 MYL9 Zornitza Stark Gene: myl9 has been classified as Green List (High Evidence).
Fetal anomalies v0.2629 MYL9 Zornitza Stark Phenotypes for gene: MYL9 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
Fetal anomalies v0.2628 MYL9 Zornitza Stark Publications for gene: MYL9 were set to 29453416; 33031641
Fetal anomalies v0.2627 MYL9 Zornitza Stark Classified gene: MYL9 as Green List (high evidence)
Fetal anomalies v0.2627 MYL9 Zornitza Stark Gene: myl9 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.17 MYL9 Zornitza Stark Publications for gene: MYL9 were set to 29453416; 33031641
Gastrointestinal neuromuscular disease v1.16 MYL9 Zornitza Stark Classified gene: MYL9 as Green List (high evidence)
Gastrointestinal neuromuscular disease v1.16 MYL9 Zornitza Stark Gene: myl9 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.15 MYL9 Zornitza Stark edited their review of gene: MYL9: Added comment: PMID:32621347; 3rd family with non-consanguineous parents and 3 TOPs.; Changed rating: GREEN; Changed publications: 33031641, 32621347
Mendeliome v0.10713 MYL9 Zornitza Stark Publications for gene: MYL9 were set to 29453416; 33031641
Mendeliome v0.10712 MYL9 Zornitza Stark Classified gene: MYL9 as Green List (high evidence)
Mendeliome v0.10712 MYL9 Zornitza Stark Gene: myl9 has been classified as Green List (High Evidence).
Mendeliome v0.10711 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Mendeliome v0.10711 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Mendeliome v0.10711 MSTO1 Zornitza Stark Phenotypes for gene: MSTO1 were changed from to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
Mendeliome v0.10710 MSTO1 Zornitza Stark Publications for gene: MSTO1 were set to
Mendeliome v0.10709 MSTO1 Zornitza Stark Mode of inheritance for gene: MSTO1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10708 MSTO1 Zornitza Stark reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, OMIM:617675, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2626 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Fetal anomalies v0.2626 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2626 MSTO1 Zornitza Stark Publications for gene: MSTO1 were set to 28544275; 29339779; 31130378; 31604776; 28554942
Fetal anomalies v0.2625 MSTO1 Zornitza Stark Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2624 MSTO1 Zornitza Stark Classified gene: MSTO1 as Green List (high evidence)
Fetal anomalies v0.2624 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2623 MED13L Zornitza Stark Marked gene: MED13L as ready
Fetal anomalies v0.2623 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Fetal anomalies v0.2623 MED13L Zornitza Stark Phenotypes for gene: MED13L were changed from INTELLECTUAL DISABILITY to Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789
Fetal anomalies v0.2622 MED13L Zornitza Stark Publications for gene: MED13L were set to
Fetal anomalies v0.2621 MED13L Zornitza Stark Mode of inheritance for gene: MED13L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2620 MED13L Zornitza Stark Classified gene: MED13L as Green List (high evidence)
Fetal anomalies v0.2620 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Fetal anomalies v0.2619 MED13L Zornitza Stark reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789; Mode of inheritance: None
Fetal anomalies v0.2619 MECR Zornitza Stark Marked gene: MECR as ready
Fetal anomalies v0.2619 MECR Zornitza Stark Gene: mecr has been classified as Red List (Low Evidence).
Fetal anomalies v0.2619 MECR Zornitza Stark Phenotypes for gene: MECR were changed from Childhood-Onset Dystonia and Optic Atrophy to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282
Fetal anomalies v0.2618 MECR Zornitza Stark Publications for gene: MECR were set to
Fetal anomalies v0.2617 MECR Zornitza Stark Classified gene: MECR as Red List (low evidence)
Fetal anomalies v0.2617 MECR Zornitza Stark Gene: mecr has been classified as Red List (Low Evidence).
Fetal anomalies v0.2616 MECOM Zornitza Stark Marked gene: MECOM as ready
Fetal anomalies v0.2616 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Fetal anomalies v0.2616 MECOM Zornitza Stark Phenotypes for gene: MECOM were changed from Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738
Fetal anomalies v0.2615 MECOM Zornitza Stark Publications for gene: MECOM were set to
Fetal anomalies v0.2614 MECOM Zornitza Stark Mode of inheritance for gene: MECOM was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2613 MECOM Zornitza Stark Classified gene: MECOM as Green List (high evidence)
Fetal anomalies v0.2613 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4454 MDH2 Zornitza Stark Marked gene: MDH2 as ready
Intellectual disability syndromic and non-syndromic v0.4454 MDH2 Zornitza Stark Gene: mdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4454 MDH2 Zornitza Stark Phenotypes for gene: MDH2 were changed from to Developmental and epileptic encephalopathy 51 MIM#617339
Intellectual disability syndromic and non-syndromic v0.4453 MDH2 Zornitza Stark Publications for gene: MDH2 were set to
Intellectual disability syndromic and non-syndromic v0.4452 MDH2 Zornitza Stark Mode of inheritance for gene: MDH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4451 MDH2 Zornitza Stark reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27989324, 34766628; Phenotypes: Developmental and epileptic encephalopathy 51 MIM#617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1425 MDH2 Zornitza Stark Marked gene: MDH2 as ready
Genetic Epilepsy v0.1425 MDH2 Zornitza Stark Gene: mdh2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1425 MDH2 Zornitza Stark Phenotypes for gene: MDH2 were changed from to Developmental and epileptic encephalopathy 51 MIM#617339
Genetic Epilepsy v0.1424 MDH2 Zornitza Stark Publications for gene: MDH2 were set to
Genetic Epilepsy v0.1423 MDH2 Zornitza Stark Mode of inheritance for gene: MDH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1422 MDH2 Zornitza Stark reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27989324, 34766628; Phenotypes: Developmental and epileptic encephalopathy 51 MIM#617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2612 MDH2 Zornitza Stark Marked gene: MDH2 as ready
Fetal anomalies v0.2612 MDH2 Zornitza Stark Gene: mdh2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2612 MDH2 Zornitza Stark Phenotypes for gene: MDH2 were changed from Early-Onset Severe Encephalopathy to Developmental and epileptic encephalopathy 51 MIM#617339
Fetal anomalies v0.2611 MDH2 Zornitza Stark Publications for gene: MDH2 were set to
Fetal anomalies v0.2610 MDH2 Zornitza Stark Classified gene: MDH2 as Red List (low evidence)
Fetal anomalies v0.2610 MDH2 Zornitza Stark Gene: mdh2 has been classified as Red List (Low Evidence).
Mendeliome v0.10708 MDH2 Zornitza Stark Marked gene: MDH2 as ready
Mendeliome v0.10708 MDH2 Zornitza Stark Gene: mdh2 has been classified as Green List (High Evidence).
Mendeliome v0.10708 MDH2 Zornitza Stark Phenotypes for gene: MDH2 were changed from to Developmental and epileptic encephalopathy 51 MIM#617339
Mendeliome v0.10707 MDH2 Zornitza Stark Publications for gene: MDH2 were set to
Mendeliome v0.10706 MDH2 Zornitza Stark Mode of inheritance for gene: MDH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10705 FOXH1 Zornitza Stark Marked gene: FOXH1 as ready
Mendeliome v0.10705 FOXH1 Zornitza Stark Gene: foxh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10705 FOXH1 Zornitza Stark Phenotypes for gene: FOXH1 were changed from to Congenital heart disease; holoprosencephaly
Mendeliome v0.10704 FOXH1 Zornitza Stark Publications for gene: FOXH1 were set to
Mendeliome v0.10703 FOXH1 Zornitza Stark Mode of inheritance for gene: FOXH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10702 FOXH1 Zornitza Stark Classified gene: FOXH1 as Amber List (moderate evidence)
Mendeliome v0.10702 FOXH1 Zornitza Stark Gene: foxh1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.174 FOXH1 Zornitza Stark Marked gene: FOXH1 as ready
Congenital Heart Defect v0.174 FOXH1 Zornitza Stark Gene: foxh1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.174 FOXH1 Zornitza Stark Phenotypes for gene: FOXH1 were changed from to Congenital heart disease
Congenital Heart Defect v0.173 FOXH1 Zornitza Stark Publications for gene: FOXH1 were set to
Congenital Heart Defect v0.172 FOXH1 Zornitza Stark Mode of inheritance for gene: FOXH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.171 FOXH1 Zornitza Stark Classified gene: FOXH1 as Amber List (moderate evidence)
Congenital Heart Defect v0.171 FOXH1 Zornitza Stark Gene: foxh1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2609 FOXH1 Zornitza Stark Marked gene: FOXH1 as ready
Fetal anomalies v0.2609 FOXH1 Zornitza Stark Gene: foxh1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2609 FOXH1 Zornitza Stark Publications for gene: FOXH1 were set to 19933292; 18538293; 19525021
Fetal anomalies v0.2608 FOXH1 Zornitza Stark Classified gene: FOXH1 as Amber List (moderate evidence)
Fetal anomalies v0.2608 FOXH1 Zornitza Stark Gene: foxh1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2607 FOXH1 Zornitza Stark edited their review of gene: FOXH1: Changed rating: AMBER
Mendeliome v0.10701 MBOAT7 Zornitza Stark Marked gene: MBOAT7 as ready
Mendeliome v0.10701 MBOAT7 Zornitza Stark Gene: mboat7 has been classified as Green List (High Evidence).
Mendeliome v0.10701 MBOAT7 Zornitza Stark Phenotypes for gene: MBOAT7 were changed from to intellectual disability MIM#617188
Mendeliome v0.10700 MBOAT7 Zornitza Stark Publications for gene: MBOAT7 were set to
Mendeliome v0.10699 MBOAT7 Zornitza Stark Mode of inheritance for gene: MBOAT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2607 MBOAT7 Zornitza Stark Marked gene: MBOAT7 as ready
Fetal anomalies v0.2607 MBOAT7 Zornitza Stark Gene: mboat7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2607 MBOAT7 Zornitza Stark Phenotypes for gene: MBOAT7 were changed from Intellectual Disability Accompanied by Epilepsy and Autistic Features to Intellectual disability MIM#617188
Fetal anomalies v0.2606 MBOAT7 Zornitza Stark Publications for gene: MBOAT7 were set to
Fetal anomalies v0.2605 MAT1A Zornitza Stark Marked gene: MAT1A as ready
Fetal anomalies v0.2605 MAT1A Zornitza Stark Gene: mat1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2605 MAT1A Zornitza Stark Mode of inheritance for gene: MAT1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2604 MAT1A Zornitza Stark Phenotypes for gene: MAT1A were changed from METHIONINE ADENOSYLTRANSFERASE DEFICIENCY to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids
Fetal anomalies v0.2603 MAT1A Zornitza Stark Publications for gene: MAT1A were set to
Fetal anomalies v0.2602 MAT1A Zornitza Stark Classified gene: MAT1A as Red List (low evidence)
Fetal anomalies v0.2602 MAT1A Zornitza Stark Gene: mat1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2601 MAP3K7 Zornitza Stark Marked gene: MAP3K7 as ready
Fetal anomalies v0.2601 MAP3K7 Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence).
Fetal anomalies v0.2601 MAP3K7 Zornitza Stark Publications for gene: MAP3K7 were set to
Fetal anomalies v0.2600 MAP3K7 Zornitza Stark Mode of inheritance for gene: MAP3K7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2599 MAP3K7 Zornitza Stark Classified gene: MAP3K7 as Green List (high evidence)
Fetal anomalies v0.2599 MAP3K7 Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence).
Fetal anomalies v0.2598 MAP3K20 Zornitza Stark Marked gene: MAP3K20 as ready
Fetal anomalies v0.2598 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Fetal anomalies v0.2598 MAP3K20 Zornitza Stark Classified gene: MAP3K20 as Green List (high evidence)
Fetal anomalies v0.2598 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Fetal anomalies v0.2597 MAP3K20 Zornitza Stark reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 6 with fiber-type disproportion MIM#617760, Split-foot malformation with mesoaxial polydactyly MIM#616890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.29 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Growth failure v1.29 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Growth failure v1.29 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Green List (high evidence)
Growth failure v1.29 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Growth failure v1.28 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
Review for gene: SCUBE3 was set to GREEN
Added comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype. Can present with growth retardation antenatally.
Sources: Expert Review
Fetal anomalies v0.2597 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Fetal anomalies v0.2597 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Mendeliome v0.10698 HAND2 Krithika Murali reviewed gene: HAND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26865696, 32134193, 26676105, 30217752, 20819618; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.170 HAND2 Krithika Murali reviewed gene: HAND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26865696, 32134193, 26676105, 30217752, 20819618; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2597 HAND2 Krithika Murali edited their review of gene: HAND2: Added comment: No OMIM gene disease association. Borderline red-amber gene.

PMID: 26676105 Lu et al 2016 - 145 unrelated patients with CHD, Han Chinese descent versus 200 unrelated controls had HAND2 gene sequencing. In x1 patient with ToF hetrozygous HAND2 c.140T>C p.L47P variant identified, parents unaffected, variant reported to be de novo but paternity not confirmed. Absent from gnomad, x1 het synonymous variant in this position only. Functional analysis showed reduced transcriptional activity

PMID: 32134193 Cohen et al 2020 - 31-month-old male with unicommissural unicuspid aortic valve, moderate aortic stenosis, and mild pulmonic stenosis. CMA identified 546kb deletion on chr 4q34.1 (174364195-174910239[GRCh37/hg19]). Deletion encompasses exons 1 and 2 of SCRG1, HAND2, and HAND2-AS1. Deletion paternally inherited - proband's father had history of ToF. Novel deletion - no similar deletions in Decipher or DGV. Proband also had CHD7 VUS (c.2830C>T, p.Arg944Cys) – but no features of CHARGE syndrome and CHD7 variant present in 7 hets in gnomad

PMID: 30217752 Liu et al 2019 - screened 206 unrelated Han Chinese patients with adult-onset idiopathic DCM and 300 unrelated controls. Identified HAND2 variant c.199G>T; p.(Glu67*). Authors report segregation of the variant with other affected individuals in the family including x2 with VSD/PDA

PMID: 26865696 Sun et al 2016 - HAND2 sequenced in 192 unrelated Han Chinese patient. Het p.S65I variant identified in a patient with VSD and present in all 7 family members with CHD and absent from 13 unaffected members.
Variant present in gnomad – 3 hets (x1 East Asian, x1 South Asian, x1 Latin American)

PMID 20819618 - Shen et al 2010 131 unrelated Han Chinese patients with ToF had HAND2 gene sequencing. Het c.32C>G p.Pro11Arg identified in x2 unrelated patients – no seg, not in gnomad but in area of low coverage.
c.42C>T – present in x1 patient with ToF + VSD – no segregation data, not in gnomad but in area of low coverage; Changed rating: AMBER; Changed publications: 26865696, 32134193, 26676105, 30217752, 20819618
Fetal anomalies v0.2597 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Fetal anomalies v0.2597 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2597 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia to Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719
Fetal anomalies v0.2596 SHANK2 Zornitza Stark Marked gene: SHANK2 as ready
Fetal anomalies v0.2596 SHANK2 Zornitza Stark Gene: shank2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2596 SHANK2 Zornitza Stark Phenotypes for gene: SHANK2 were changed from SUSCEPTIBILITY TO AUTISM TYPE 17 to {Autism susceptibility 17}, MIM# 613436
Fetal anomalies v0.2595 SHROOM3 Zornitza Stark Classified gene: SHROOM3 as Amber List (moderate evidence)
Fetal anomalies v0.2595 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2594 SHROOM3 Zornitza Stark reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2594 SHROOM3 Zornitza Stark Marked gene: SHROOM3 as ready
Fetal anomalies v0.2594 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2594 SHROOM3 Zornitza Stark Phenotypes for gene: SHROOM3 were changed from NEURAL TUBE DEFECT to Anencephaly; cleft lip and palate
Fetal anomalies v0.2593 SHROOM3 Zornitza Stark Classified gene: SHROOM3 as Red List (low evidence)
Fetal anomalies v0.2593 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2592 SHROOM3 Zornitza Stark Mode of inheritance for gene: SHROOM3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2591 SHROOM3 Zornitza Stark Publications for gene: SHROOM3 were set to
Intellectual disability syndromic and non-syndromic v0.4451 SIN3A Zornitza Stark Marked gene: SIN3A as ready
Intellectual disability syndromic and non-syndromic v0.4451 SIN3A Zornitza Stark Gene: sin3a has been classified as Green List (High Evidence).
Mendeliome v0.10698 SIN3A Zornitza Stark Marked gene: SIN3A as ready
Mendeliome v0.10698 SIN3A Zornitza Stark Gene: sin3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4451 SIN3A Zornitza Stark Phenotypes for gene: SIN3A were changed from to Witteveen-Kolk syndrome, OMIM # 613406
Mendeliome v0.10698 SIN3A Zornitza Stark Phenotypes for gene: SIN3A were changed from to Witteveen-Kolk syndrome, OMIM # 613406
Intellectual disability syndromic and non-syndromic v0.4450 SIN3A Zornitza Stark Publications for gene: SIN3A were set to
Mendeliome v0.10697 SIN3A Zornitza Stark Publications for gene: SIN3A were set to
Intellectual disability syndromic and non-syndromic v0.4449 SIN3A Zornitza Stark Mode of inheritance for gene: SIN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10696 SIN3A Zornitza Stark Mode of inheritance for gene: SIN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4448 SIN3A Zornitza Stark Mode of inheritance for gene: SIN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10695 SIN3A Zornitza Stark reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM # 613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2590 SIN3A Zornitza Stark Marked gene: SIN3A as ready
Fetal anomalies v0.2590 SIN3A Zornitza Stark Gene: sin3a has been classified as Green List (High Evidence).
Fetal anomalies v0.2590 SIN3A Zornitza Stark Phenotypes for gene: SIN3A were changed from SYNDROMIC INTELLECTUAL DISABILITY to Witteveen-Kolk syndrome, MIM # 613406
Fetal anomalies v0.2589 SIN3A Zornitza Stark Publications for gene: SIN3A were set to
Fetal anomalies v0.2588 SIN3A Zornitza Stark Mode of inheritance for gene: SIN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2587 SLC20A1 Zornitza Stark Marked gene: SLC20A1 as ready
Fetal anomalies v0.2587 SLC20A1 Zornitza Stark Gene: slc20a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2587 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Fetal anomalies v0.2587 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2587 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Fetal anomalies v0.2586 Zornitza Stark removed gene:SLC24A4 from the panel
Fetal anomalies v0.2585 Zornitza Stark removed gene:SMOC2 from the panel
Fetal anomalies v0.2584 SMS Zornitza Stark Marked gene: SMS as ready
Fetal anomalies v0.2584 SMS Zornitza Stark Gene: sms has been classified as Red List (Low Evidence).
Fetal anomalies v0.2584 SRP54 Zornitza Stark Marked gene: SRP54 as ready
Fetal anomalies v0.2584 SRP54 Zornitza Stark Gene: srp54 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2584 SRP54 Zornitza Stark Phenotypes for gene: SRP54 were changed from Syndromic neutropenia with Shwachman-Diamond-like features to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Fetal anomalies v0.2583 STX1B Zornitza Stark Marked gene: STX1B as ready
Fetal anomalies v0.2583 STX1B Zornitza Stark Gene: stx1b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2583 STX1B Zornitza Stark Phenotypes for gene: STX1B were changed from GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 to Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172
Mendeliome v0.10695 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Mendeliome v0.10695 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Mendeliome v0.10695 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491; Intellectual developmental disorder, X-linked 50, MIM# 300115
Mendeliome v0.10694 SYN1 Zornitza Stark Publications for gene: SYN1 were set to
Mendeliome v0.10693 SYN1 Zornitza Stark Mode of inheritance for gene: SYN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10692 SYN1 Zornitza Stark reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985377, 21441247, 28973667, 21441247, 34243774; Phenotypes: Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491, Intellectual developmental disorder, X-linked 50, MIM# 300115; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2582 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Fetal anomalies v0.2582 SYN1 Zornitza Stark Gene: syn1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2582 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491; Intellectual developmental disorder, X-linked 50, MIM# 300115
Fetal anomalies v0.2581 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Fetal anomalies v0.2581 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2581 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM to Developmental and epileptic encephalopathy 18, MIM #615476
Fetal anomalies v0.2580 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Fetal anomalies v0.2579 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Fetal anomalies v0.2579 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2579 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 to Developmental and epileptic encephalopathy 5, MIM# 613477
Fetal anomalies v0.2578 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to
Fetal anomalies v0.2577 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2576 SPTAN1 Zornitza Stark Deleted their review
Fetal anomalies v0.2576 EXOC3L2 Zornitza Stark Marked gene: EXOC3L2 as ready
Fetal anomalies v0.2576 EXOC3L2 Zornitza Stark Gene: exoc3l2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2576 EXOC3L2 Zornitza Stark Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; Meckel-Gruber-like syndrome to Dandy-Walker malformation, MONDO:0009072; Meckel-Gruber-like syndrome
Fetal anomalies v0.2575 EXOC3L2 Zornitza Stark Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448
Fetal anomalies v0.2574 EXPH5 Zornitza Stark Marked gene: EXPH5 as ready
Fetal anomalies v0.2574 EXPH5 Zornitza Stark Gene: exph5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2574 EXPH5 Zornitza Stark Phenotypes for gene: EXPH5 were changed from INHERITED SKIN FRAGILITY to Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM #615028
Fetal anomalies v0.2573 EXPH5 Zornitza Stark Publications for gene: EXPH5 were set to
Fetal anomalies v0.2572 EXPH5 Zornitza Stark Classified gene: EXPH5 as Red List (low evidence)
Fetal anomalies v0.2572 EXPH5 Zornitza Stark Gene: exph5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2571 EXPH5 Zornitza Stark reviewed gene: EXPH5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2571 ELMO2 Zornitza Stark Marked gene: ELMO2 as ready
Fetal anomalies v0.2571 ELMO2 Zornitza Stark Gene: elmo2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2571 ELMO2 Zornitza Stark Phenotypes for gene: ELMO2 were changed from Intraosseous Vascular Malformation to Vascular malformation, primary intraosseous, MIM# 606893
Mendeliome v0.10692 DCC Zornitza Stark Marked gene: DCC as ready
Mendeliome v0.10692 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Mendeliome v0.10692 DCC Zornitza Stark Phenotypes for gene: DCC were changed from to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542
Mendeliome v0.10691 DCC Zornitza Stark Publications for gene: DCC were set to
Mendeliome v0.10690 DCC Zornitza Stark Mode of inheritance for gene: DCC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10689 DCC Zornitza Stark reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20431009, 31697046, 21242494, 28250454, 28250456; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2570 DCC Zornitza Stark Marked gene: DCC as ready
Fetal anomalies v0.2570 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Fetal anomalies v0.2570 DCC Zornitza Stark Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542
Fetal anomalies v0.2569 DCC Zornitza Stark Publications for gene: DCC were set to
Fetal anomalies v0.2568 DCC Zornitza Stark Mode of inheritance for gene: DCC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2567 TAC3 Zornitza Stark Marked gene: TAC3 as ready
Fetal anomalies v0.2567 TAC3 Zornitza Stark Gene: tac3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2567 TAC3 Zornitza Stark Phenotypes for gene: TAC3 were changed from HYPOGONADOTROPIC HYPOGONADISM to Hypogonadotropic hypogonadism 10 with or without anosmia , MIM#614839
Fetal anomalies v0.2566 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Fetal anomalies v0.2566 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2566 TNFRSF13B Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2565 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from IMMUNODEFICIENCY, COMMON VARIABLE, 2 to Immunodeficiency, common variable, 2, MIM# 240500
Fetal anomalies v0.2564 NXN Zornitza Stark Marked gene: NXN as ready
Fetal anomalies v0.2564 NXN Zornitza Stark Gene: nxn has been classified as Green List (High Evidence).
Fetal anomalies v0.2564 NXN Zornitza Stark Publications for gene: NXN were set to
Mendeliome v0.10689 SNX10 Zornitza Stark Marked gene: SNX10 as ready
Mendeliome v0.10689 SNX10 Zornitza Stark Gene: snx10 has been classified as Green List (High Evidence).
Mendeliome v0.10689 SNX10 Zornitza Stark Phenotypes for gene: SNX10 were changed from to Osteopetrosis, autosomal recessive 8, MIM# 615085
Mendeliome v0.10688 SNX10 Zornitza Stark Publications for gene: SNX10 were set to
Mendeliome v0.10687 SNX10 Zornitza Stark Mode of inheritance for gene: SNX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10686 SNX10 Zornitza Stark reviewed gene: SNX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499339, 23123320, 33678645, 32278070, 30977576, 30898715; Phenotypes: Osteopetrosis, autosomal recessive 8, MIM# 615085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2563 SNX10 Zornitza Stark Marked gene: SNX10 as ready
Fetal anomalies v0.2563 SNX10 Zornitza Stark Gene: snx10 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4447 SOX11 Zornitza Stark Marked gene: SOX11 as ready
Intellectual disability syndromic and non-syndromic v0.4447 SOX11 Zornitza Stark Gene: sox11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4447 SOX11 Zornitza Stark Phenotypes for gene: SOX11 were changed from to Coffin-Siris syndrome 9, OMIM # 615866
Intellectual disability syndromic and non-syndromic v0.4446 SOX11 Zornitza Stark Publications for gene: SOX11 were set to 24886874; 33785884; 33430815; 33086258; 31530938
Intellectual disability syndromic and non-syndromic v0.4446 SOX11 Zornitza Stark Publications for gene: SOX11 were set to
Intellectual disability syndromic and non-syndromic v0.4445 SOX11 Zornitza Stark Mode of inheritance for gene: SOX11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2563 SOX11 Zornitza Stark Marked gene: SOX11 as ready
Fetal anomalies v0.2563 SOX11 Zornitza Stark Gene: sox11 has been classified as Green List (High Evidence).
Fetal anomalies v0.2563 SOX11 Zornitza Stark Phenotypes for gene: SOX11 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 to Coffin-Siris syndrome 9, OMIM # 615866
Fetal anomalies v0.2562 SOX11 Zornitza Stark Publications for gene: SOX11 were set to
Fetal anomalies v0.2561 SOX11 Zornitza Stark Mode of inheritance for gene: SOX11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10686 MEOX1 Zornitza Stark Marked gene: MEOX1 as ready
Mendeliome v0.10686 MEOX1 Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence).
Mendeliome v0.10686 MEOX1 Zornitza Stark Phenotypes for gene: MEOX1 were changed from to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Mendeliome v0.10685 MEOX1 Zornitza Stark Publications for gene: MEOX1 were set to
Mendeliome v0.10684 MEOX1 Zornitza Stark Mode of inheritance for gene: MEOX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10683 MEOX1 Zornitza Stark reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073994, 23290072; Phenotypes: Klippel-Feil syndrome 2, OMIM:214300, Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2560 MEOX1 Zornitza Stark Marked gene: MEOX1 as ready
Fetal anomalies v0.2560 MEOX1 Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2560 MEOX1 Zornitza Stark Publications for gene: MEOX1 were set to
Fetal anomalies v0.2559 OTUD6B Zornitza Stark Marked gene: OTUD6B as ready
Fetal anomalies v0.2559 OTUD6B Zornitza Stark Gene: otud6b has been classified as Green List (High Evidence).
Fetal anomalies v0.2559 OTUD6B Zornitza Stark Phenotypes for gene: OTUD6B were changed from Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452
Fetal anomalies v0.2558 OTUD6B Zornitza Stark Publications for gene: OTUD6B were set to
Mendeliome v0.10683 OTUD6B Zornitza Stark Marked gene: OTUD6B as ready
Mendeliome v0.10683 OTUD6B Zornitza Stark Gene: otud6b has been classified as Green List (High Evidence).
Mendeliome v0.10683 OTUD6B Zornitza Stark Phenotypes for gene: OTUD6B were changed from to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452
Mendeliome v0.10682 OTUD6B Zornitza Stark Publications for gene: OTUD6B were set to
Mendeliome v0.10681 OTUD6B Zornitza Stark Mode of inheritance for gene: OTUD6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10680 OTUD6B Zornitza Stark changed review comment from: IDDFSDA is a severe multisystem disorder characterized by global developmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. In 2017, 12 patients from 6 unrelated families with IDDFSDA identified with 4 homozygous mutations in the OTUD6B gene (WES and Sanger, and segregated with the disorder in the families). Other cases reported since. Suitable for fetal anomalies panel.; to: IDDFSDA is a severe multisystem disorder characterized by global developmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. In 2017, 12 patients from 6 unrelated families with IDDFSDA identified with 4 homozygous mutations in the OTUD6B gene (WES and Sanger, and segregated with the disorder in the families). Other cases reported since.
Mendeliome v0.10680 OTUD6B Zornitza Stark reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4444 OTUD6B Zornitza Stark Marked gene: OTUD6B as ready
Intellectual disability syndromic and non-syndromic v0.4444 OTUD6B Zornitza Stark Gene: otud6b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4444 OTUD6B Zornitza Stark Phenotypes for gene: OTUD6B were changed from to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452
Intellectual disability syndromic and non-syndromic v0.4443 OTUD6B Zornitza Stark Publications for gene: OTUD6B were set to
Intellectual disability syndromic and non-syndromic v0.4442 OTUD6B Zornitza Stark Mode of inheritance for gene: OTUD6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2557 SGCG Zornitza Stark Marked gene: SGCG as ready
Fetal anomalies v0.2557 SGCG Zornitza Stark Gene: sgcg has been classified as Red List (Low Evidence).
Fetal anomalies v0.2557 SLC6A17 Zornitza Stark Marked gene: SLC6A17 as ready
Fetal anomalies v0.2557 SLC6A17 Zornitza Stark Gene: slc6a17 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2557 SLC6A17 Zornitza Stark Phenotypes for gene: SLC6A17 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 to Mental retardation, autosomal recessive 48, MIM# 616269
Fetal anomalies v0.2556 RAB33B Zornitza Stark Marked gene: RAB33B as ready
Fetal anomalies v0.2556 RAB33B Zornitza Stark Gene: rab33b has been classified as Red List (Low Evidence).
Mendeliome v0.10680 SERPINH1 Zornitza Stark Marked gene: SERPINH1 as ready
Mendeliome v0.10680 SERPINH1 Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence).
Mendeliome v0.10680 SERPINH1 Zornitza Stark Phenotypes for gene: SERPINH1 were changed from to Osteogenesis imperfecta, type X, MIM# 613848; Osteogenesis imperfecta type 10, MONDO:0013459
Mendeliome v0.10679 SERPINH1 Zornitza Stark Publications for gene: SERPINH1 were set to
Mendeliome v0.10678 SERPINH1 Zornitza Stark Mode of inheritance for gene: SERPINH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10677 SERPINH1 Zornitza Stark reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343, 25510505, 31179625, 29520608; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848, Osteogenesis imperfecta type 10, MONDO:0013459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2556 SERPINH1 Zornitza Stark Marked gene: SERPINH1 as ready
Fetal anomalies v0.2556 SERPINH1 Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2556 SERPINH1 Zornitza Stark Publications for gene: SERPINH1 were set to
Fetal anomalies v0.2555 SERPINH1 Zornitza Stark Classified gene: SERPINH1 as Green List (high evidence)
Fetal anomalies v0.2555 SERPINH1 Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2554 SERPINH1 Zornitza Stark reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10677 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Mendeliome v0.10677 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence).
Mendeliome v0.10677 SERPINF1 Zornitza Stark Phenotypes for gene: SERPINF1 were changed from to Osteogenesis imperfecta, type VI, MIM# 613982
Mendeliome v0.10676 SERPINF1 Zornitza Stark Publications for gene: SERPINF1 were set to
Mendeliome v0.10675 SERPINF1 Zornitza Stark Mode of inheritance for gene: SERPINF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10674 SERPINF1 Zornitza Stark edited their review of gene: SERPINF1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10674 SERPINF1 Zornitza Stark reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353196, 23054245; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982; Mode of inheritance: None
Fetal anomalies v0.2554 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Fetal anomalies v0.2554 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2554 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Fetal anomalies v0.2554 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Fetal anomalies v0.2554 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM to Wiedemann-Rautenstrauch syndrome, MIM# 264090
Fetal anomalies v0.2553 POLR3A Zornitza Stark Publications for gene: POLR3A were set to
Fetal anomalies v0.2552 POLR3A Zornitza Stark Classified gene: POLR3A as Green List (high evidence)
Fetal anomalies v0.2552 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Fetal anomalies v0.2551 POLR3A Zornitza Stark reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30323018; Phenotypes: Wiedemann-Rautenstrauch syndrome, MIM# 264090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2551 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Fetal anomalies v0.2551 POLR3B Zornitza Stark Gene: polr3b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2551 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Fetal anomalies v0.2551 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2551 PYCR2 Zornitza Stark Phenotypes for gene: PYCR2 were changed from POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME to Leukodystrophy, hypomyelinating, 10, MIM# 616420
Mendeliome v0.10674 PITX1 Zornitza Stark Marked gene: PITX1 as ready
Mendeliome v0.10674 PITX1 Zornitza Stark Gene: pitx1 has been classified as Green List (High Evidence).
Mendeliome v0.10674 PITX1 Zornitza Stark Phenotypes for gene: PITX1 were changed from to Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800
Mendeliome v0.10673 PITX1 Zornitza Stark Publications for gene: PITX1 were set to
Mendeliome v0.10672 PITX1 Zornitza Stark Mode of inheritance for gene: PITX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10671 PITX1 Zornitza Stark reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21775501, 22258522, 18950742; Phenotypes: Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520, Clubfoot, MONDO:0007342, Liebenberg syndrome, OMIM:186550, Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2550 PITX1 Zornitza Stark Marked gene: PITX1 as ready
Fetal anomalies v0.2550 PITX1 Zornitza Stark Gene: pitx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2550 PITX1 Zornitza Stark Publications for gene: PITX1 were set to
Fetal anomalies v0.2549 PITX1 Zornitza Stark Mode of inheritance for gene: PITX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10671 ICAM1 Zornitza Stark Marked gene: ICAM1 as ready
Mendeliome v0.10671 ICAM1 Zornitza Stark Gene: icam1 has been classified as Red List (Low Evidence).
Mendeliome v0.10671 ICAM1 Zornitza Stark Classified gene: ICAM1 as Red List (low evidence)
Mendeliome v0.10671 ICAM1 Zornitza Stark Gene: icam1 has been classified as Red List (Low Evidence).
Mendeliome v0.10670 IRAK3 Zornitza Stark Marked gene: IRAK3 as ready
Mendeliome v0.10670 IRAK3 Zornitza Stark Gene: irak3 has been classified as Red List (Low Evidence).
Mendeliome v0.10670 IRAK3 Zornitza Stark Classified gene: IRAK3 as Red List (low evidence)
Mendeliome v0.10670 IRAK3 Zornitza Stark Gene: irak3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2548 FEZF1 Zornitza Stark Marked gene: FEZF1 as ready
Fetal anomalies v0.2548 FEZF1 Zornitza Stark Gene: fezf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2548 FEZF1 Zornitza Stark Phenotypes for gene: FEZF1 were changed from Hypogonadotropic hypogonadism 22, with or without anosmia, MIM# 616030 to Hypogonadotropic hypogonadism 22, with or without anosmia, MIM# 616030
Fetal anomalies v0.2547 FEZF1 Zornitza Stark Marked gene: FEZF1 as ready
Fetal anomalies v0.2547 FEZF1 Zornitza Stark Gene: fezf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2547 FEZF1 Zornitza Stark Phenotypes for gene: FEZF1 were changed from HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA to Hypogonadotropic hypogonadism 22, with or without anosmia, MIM# 616030
Fetal anomalies v0.2546 NAXE Zornitza Stark Marked gene: NAXE as ready
Fetal anomalies v0.2546 NAXE Zornitza Stark Gene: naxe has been classified as Red List (Low Evidence).
Fetal anomalies v0.2546 NAXE Zornitza Stark Phenotypes for gene: NAXE were changed from Lethal Neurometabolic Disorder of Early Childhood to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy , MIM#617186
Fetal anomalies v0.2545 TRMT10C Zornitza Stark Marked gene: TRMT10C as ready
Fetal anomalies v0.2545 TRMT10C Zornitza Stark Gene: trmt10c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2545 TRMT10C Zornitza Stark Publications for gene: TRMT10C were set to
Fetal anomalies v0.2544 TRMT10C Zornitza Stark edited their review of gene: TRMT10C: Changed publications: 27132592
Fetal anomalies v0.2544 TRMT10C Zornitza Stark Phenotypes for gene: TRMT10C were changed from Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies to Combined oxidative phosphorylation deficiency 30, MIM# 616974
Fetal anomalies v0.2543 TRMT10C Zornitza Stark Classified gene: TRMT10C as Amber List (moderate evidence)
Fetal anomalies v0.2543 TRMT10C Zornitza Stark Gene: trmt10c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2542 TRMT10C Zornitza Stark reviewed gene: TRMT10C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: None
Fetal anomalies v0.2542 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Fetal anomalies v0.2542 PBX1 Zornitza Stark Gene: pbx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2542 PBX1 Zornitza Stark Publications for gene: PBX1 were set to
Fetal anomalies v0.2541 PBX1 Zornitza Stark Mode of inheritance for gene: PBX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.105 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.105 PBX1 Zornitza Stark Gene: pbx1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.105 PBX1 Zornitza Stark Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.104 PBX1 Zornitza Stark Publications for gene: PBX1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.103 PBX1 Zornitza Stark Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2540 PFKM Zornitza Stark Marked gene: PFKM as ready
Fetal anomalies v0.2540 PFKM Zornitza Stark Gene: pfkm has been classified as Red List (Low Evidence).
Fetal anomalies v0.2540 TRPM7 Zornitza Stark Classified gene: TRPM7 as Amber List (moderate evidence)
Fetal anomalies v0.2540 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2539 TRPM7 Zornitza Stark changed review comment from: 4 variants identified in a stillbirth cohort. Some supportive evidence that these variants alter channel function.; to: 4 variants identified in a stillbirth cohort.

Ion channel expressed in the nervous and cardiac systems. The variant associated with ALS/dementia in the Guam population, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association.
Fetal anomalies v0.2539 TRPM7 Zornitza Stark edited their review of gene: TRPM7: Changed rating: AMBER
Fetal anomalies v0.2539 TRPM7 Zornitza Stark Marked gene: TRPM7 as ready
Fetal anomalies v0.2539 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2539 TRPM7 Zornitza Stark reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: None; Publications: 31423533; Phenotypes: Arrhythmia, stillbirth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2539 PTH Zornitza Stark Marked gene: PTH as ready
Fetal anomalies v0.2539 PTH Zornitza Stark Gene: pth has been classified as Red List (Low Evidence).
Fetal anomalies v0.2539 PTH Zornitza Stark Phenotypes for gene: PTH were changed from FAMILIAL ISOLATED HYPOPARATHYROIDISM to Hypoparathyroidism, familial isolated 1, MIM# 146200
Fetal anomalies v0.2538 SET Zornitza Stark Marked gene: SET as ready
Fetal anomalies v0.2538 SET Zornitza Stark Gene: set has been classified as Red List (Low Evidence).
Fetal anomalies v0.2538 SET Zornitza Stark Phenotypes for gene: SET were changed from SET syndrome to Mental retardation, autosomal dominant 58, MIM# 618106
Mendeliome v0.10669 CAPN10 Zornitza Stark Marked gene: CAPN10 as ready
Mendeliome v0.10669 CAPN10 Zornitza Stark Gene: capn10 has been classified as Red List (Low Evidence).
Mendeliome v0.10669 CAPN10 Zornitza Stark Phenotypes for gene: CAPN10 were changed from to {Diabetes mellitus, noninsulin-dependent 1} 601283
Mendeliome v0.10668 CAPN10 Zornitza Stark Publications for gene: CAPN10 were set to
Mendeliome v0.10667 CAPN10 Zornitza Stark Classified gene: CAPN10 as Red List (low evidence)
Mendeliome v0.10667 CAPN10 Zornitza Stark Gene: capn10 has been classified as Red List (Low Evidence).
Mendeliome v0.10666 SPARC Zornitza Stark Marked gene: SPARC as ready
Mendeliome v0.10666 SPARC Zornitza Stark Gene: sparc has been classified as Green List (High Evidence).
Mendeliome v0.10666 SPARC Zornitza Stark Phenotypes for gene: SPARC were changed from to Osteogenesis imperfecta, type XVII, MIM# 616507
Mendeliome v0.10665 SPARC Zornitza Stark Publications for gene: SPARC were set to
Mendeliome v0.10664 SPARC Zornitza Stark Mode of inheritance for gene: SPARC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10663 SPARC Zornitza Stark reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26027498, 34462290; Phenotypes: Osteogenesis imperfecta, type XVII, MIM# 616507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2537 SPARC Zornitza Stark Marked gene: SPARC as ready
Fetal anomalies v0.2537 SPARC Zornitza Stark Gene: sparc has been classified as Red List (Low Evidence).
Fetal anomalies v0.2537 MESD Zornitza Stark Marked gene: MESD as ready
Fetal anomalies v0.2537 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Mendeliome v0.10663 SLC39A7 Zornitza Stark edited their review of gene: SLC39A7: Changed rating: GREEN
Mendeliome v0.10663 SLC39A7 Zornitza Stark edited their review of gene: SLC39A7: Changed rating: RED
Fetal anomalies v0.2537 ALOXE3 Zornitza Stark edited their review of gene: ALOXE3: Changed rating: RED
Fetal anomalies v0.2537 ALOX12B Zornitza Stark edited their review of gene: ALOX12B: Changed rating: RED
Fetal anomalies v0.2537 NUAK2 Zornitza Stark Marked gene: NUAK2 as ready
Fetal anomalies v0.2537 NUAK2 Zornitza Stark Gene: nuak2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2537 NUAK2 Zornitza Stark Classified gene: NUAK2 as Amber List (moderate evidence)
Fetal anomalies v0.2537 NUAK2 Zornitza Stark Gene: nuak2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2536 NUAK2 Zornitza Stark reviewed gene: NUAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2536 NUAK2 Zornitza Stark Phenotypes for gene: NUAK2 were changed from Anencephaly to Anencephaly 2, OMIM #619452
Fetal anomalies v0.2535 FZD2 Zornitza Stark Marked gene: FZD2 as ready
Fetal anomalies v0.2535 FZD2 Zornitza Stark Gene: fzd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2535 FZD2 Zornitza Stark Publications for gene: FZD2 were set to
Fetal anomalies v0.2534 FZD2 Zornitza Stark Mode of inheritance for gene: FZD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2533 TRPV3 Zornitza Stark Marked gene: TRPV3 as ready
Fetal anomalies v0.2533 TRPV3 Zornitza Stark Gene: trpv3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2533 TRPV3 Zornitza Stark Phenotypes for gene: TRPV3 were changed from OLMSTED SYNDROME to Olmsted syndrome 1, MIM# 614594
Fetal anomalies v0.2532 TSFM Zornitza Stark Marked gene: TSFM as ready
Fetal anomalies v0.2532 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Fetal anomalies v0.2532 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from Combined oxidative phosphorylation deficiency 3 to Combined oxidative phosphorylation deficiency 3, MIM#610505
Fetal anomalies v0.2531 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Fetal anomalies v0.2531 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2531 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES to Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039
Fetal anomalies v0.2530 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to 32573066
Fetal anomalies v0.2529 TUBB3 Zornitza Stark Mode of inheritance for gene: TUBB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2528 TUBG1 Zornitza Stark Marked gene: TUBG1 as ready
Fetal anomalies v0.2528 TUBG1 Zornitza Stark Gene: tubg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2528 TUBG1 Zornitza Stark Phenotypes for gene: TUBG1 were changed from Posteriorly predominant pachygyria and severe microcephaly to Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412
Fetal anomalies v0.2527 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2526 VDR Zornitza Stark Marked gene: VDR as ready
Fetal anomalies v0.2526 VDR Zornitza Stark Gene: vdr has been classified as Red List (Low Evidence).
Fetal anomalies v0.2526 VDR Zornitza Stark Phenotypes for gene: VDR were changed from RICKETS VITAMIN D-DEPENDENT TYPE 2A to Rickets, vitamin D-resistant, type IIA, MIM# 277440
Fetal anomalies v0.2525 VEGFC Zornitza Stark Phenotypes for gene: VEGFC were changed from Lymphatic malformation 4 to Lymphatic malformation 4, MIM# 615907
Fetal anomalies v0.2524 VEGFC Zornitza Stark Mode of inheritance for gene: VEGFC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2523 VEGFC Zornitza Stark Classified gene: VEGFC as Amber List (moderate evidence)
Fetal anomalies v0.2523 VEGFC Zornitza Stark Gene: vegfc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2522 VEGFC Zornitza Stark reviewed gene: VEGFC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 4, MIM# 615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2522 VEGFC Zornitza Stark Marked gene: VEGFC as ready
Fetal anomalies v0.2522 VEGFC Zornitza Stark Gene: vegfc has been classified as Red List (Low Evidence).
Fetal anomalies v0.2522 WNT3 Zornitza Stark Marked gene: WNT3 as ready
Fetal anomalies v0.2522 WNT3 Zornitza Stark Gene: wnt3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2522 WNT3 Zornitza Stark Phenotypes for gene: WNT3 were changed from TETRA-AMELIA SYNDROME to Tetra-amelia syndrome 1, OMIM #273395
Fetal anomalies v0.2521 WNT1 Seb Lunke Marked gene: WNT1 as ready
Fetal anomalies v0.2521 WNT1 Seb Lunke Gene: wnt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2521 WNT1 Seb Lunke Publications for gene: WNT1 were set to
Fetal anomalies v0.2520 WNT5A Seb Lunke Marked gene: WNT5A as ready
Fetal anomalies v0.2520 WNT5A Seb Lunke Gene: wnt5a has been classified as Green List (High Evidence).
Fetal anomalies v0.2520 WNT5A Seb Lunke Phenotypes for gene: WNT5A were changed from WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT to Robinow syndrome, autosomal dominant 1; OMIM# 180700
Fetal anomalies v0.2519 WNT5A Seb Lunke Publications for gene: WNT5A were set to
Fetal anomalies v0.2518 WNT5A Seb Lunke Mode of inheritance for gene: WNT5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2517 WNT7A Seb Lunke Marked gene: WNT7A as ready
Fetal anomalies v0.2517 WNT7A Seb Lunke Gene: wnt7a has been classified as Green List (High Evidence).
Fetal anomalies v0.2517 WNT7A Seb Lunke Phenotypes for gene: WNT7A were changed from FUHRMANN SYNDROME; LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
Mendeliome v0.10663 WNT7A Seb Lunke Marked gene: WNT7A as ready
Mendeliome v0.10663 WNT7A Seb Lunke Gene: wnt7a has been classified as Green List (High Evidence).
Mendeliome v0.10663 WNT7A Seb Lunke Phenotypes for gene: WNT7A were changed from to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
Mendeliome v0.10662 WNT7A Seb Lunke Publications for gene: WNT7A were set to
Mendeliome v0.10661 WNT7A Seb Lunke Mode of inheritance for gene: WNT7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10660 WNT7A Seb Lunke reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21344627, 20949531, 16826533; Phenotypes: Fuhrmann syndrome, MIM# 228930, Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2516 WNT7A Seb Lunke Publications for gene: WNT7A were set to
Incidentalome v0.83 WT1 Seb Lunke Marked gene: WT1 as ready
Incidentalome v0.83 WT1 Seb Lunke Gene: wt1 has been classified as Green List (High Evidence).
Incidentalome v0.83 WT1 Seb Lunke Phenotypes for gene: WT1 were changed from to Denys-Drash syndrome, MIM# 194080; Frasier syndrome, MIM#136680; Wilms tumor, type 1, MIM#194070; Nephrotic syndrome, type 4, MIM#256370
Incidentalome v0.82 WT1 Seb Lunke Mode of inheritance for gene: WT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2515 WT1 Seb Lunke Marked gene: WT1 as ready
Fetal anomalies v0.2515 WT1 Seb Lunke Gene: wt1 has been classified as Green List (High Evidence).
Incidentalome v0.81 WT1 Seb Lunke reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Denys-Drash syndrome, MIM# 194080, Frasier syndrome, MIM#136680, Wilms tumor, type 1, MIM#194070, Nephrotic syndrome, type 4, MIM#256370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2515 WT1 Seb Lunke Phenotypes for gene: WT1 were changed from DENYS-DRASH SYNDROME; FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME to Denys-Drash syndrome, MIM# 194080; Frasier syndrome, MIM#136680
Fetal anomalies v0.2514 WT1 Seb Lunke Mode of inheritance for gene: WT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2513 XRCC4 Seb Lunke Marked gene: XRCC4 as ready
Fetal anomalies v0.2513 XRCC4 Seb Lunke Gene: xrcc4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2513 XRCC4 Seb Lunke Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, MIM#616541
Fetal anomalies v0.2512 XRCC4 Seb Lunke Publications for gene: XRCC4 were set to
Fetal anomalies v0.2511 XYLT1 Seb Lunke Marked gene: XYLT1 as ready
Fetal anomalies v0.2511 XYLT1 Seb Lunke Gene: xylt1 has been classified as Green List (High Evidence).
Mendeliome v0.10660 XYLT1 Seb Lunke Marked gene: XYLT1 as ready
Mendeliome v0.10660 XYLT1 Seb Lunke Gene: xylt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2511 XYLT1 Seb Lunke Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome
Mendeliome v0.10660 XYLT1 Seb Lunke Publications for gene: XYLT1 were set to
Fetal anomalies v0.2510 XYLT1 Seb Lunke Publications for gene: XYLT1 were set to
Fetal anomalies v0.2509 ZC4H2 Seb Lunke Marked gene: ZC4H2 as ready
Fetal anomalies v0.2509 ZC4H2 Seb Lunke Gene: zc4h2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2509 ZC4H2 Seb Lunke Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041 to Wieacker-Wolff syndrome, OMIM#314580; Wieacker-Wolff syndrome, female-restricted, OMIM#301041
Fetal anomalies v0.2508 ZC4H2 Seb Lunke Publications for gene: ZC4H2 were set to 30712880
Fetal anomalies v0.2507 ZEB2 Seb Lunke Marked gene: ZEB2 as ready
Fetal anomalies v0.2507 ZEB2 Seb Lunke Gene: zeb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2507 ZEB2 Seb Lunke Phenotypes for gene: ZEB2 were changed from MOWAT-WILSON SYNDROME to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Fetal anomalies v0.2506 ZEB2 Seb Lunke Publications for gene: ZEB2 were set to
Fetal anomalies v0.2505 ZEB2 Seb Lunke Mode of inheritance for gene: ZEB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10659 ZIC1 Seb Lunke Phenotypes for gene: ZIC1 were changed from to Structural brain anomalies with impaired intellectual development and craniosynostosis, OMIM#618736
Mendeliome v0.10658 ZIC1 Seb Lunke Marked gene: ZIC1 as ready
Mendeliome v0.10658 ZIC1 Seb Lunke Gene: zic1 has been classified as Green List (High Evidence).
Mendeliome v0.10658 ZIC1 Seb Lunke Publications for gene: ZIC1 were set to
Mendeliome v0.10657 ZIC1 Seb Lunke Mode of inheritance for gene: ZIC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10656 ZIC1 Seb Lunke reviewed gene: ZIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26340333, 30391508; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis, OMIM#618736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2504 ZIC1 Seb Lunke Marked gene: ZIC1 as ready
Fetal anomalies v0.2504 ZIC1 Seb Lunke Gene: zic1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2504 ZIC1 Seb Lunke Phenotypes for gene: ZIC1 were changed from CRANIOSYNOSTOSIS 6 to Structural brain anomalies with impaired intellectual development and craniosynostosis; OMIM#618736
Fetal anomalies v0.2503 ZIC1 Seb Lunke Publications for gene: ZIC1 were set to
Fetal anomalies v0.2502 ZIC1 Seb Lunke Mode of inheritance for gene: ZIC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2501 ZIC3 Seb Lunke Marked gene: ZIC3 as ready
Fetal anomalies v0.2501 ZIC3 Seb Lunke Gene: zic3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2501 ZIC3 Seb Lunke Phenotypes for gene: ZIC3 were changed from HETEROTAXY SYNDROME; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS to Congenital heart defects, nonsyndromic, 1, X-linked, MIM#306955; Heterotaxy, visceral, 1, X-linked, MIM#306955; VACTERL association, X-linked, MIM#314390
Fetal anomalies v0.2500 ZIC3 Seb Lunke Publications for gene: ZIC3 were set to
Fetal anomalies v0.2499 ZNF462 Seb Lunke Marked gene: ZNF462 as ready
Fetal anomalies v0.2499 ZNF462 Seb Lunke Gene: znf462 has been classified as Green List (High Evidence).
Fetal anomalies v0.2499 ZNF462 Seb Lunke Phenotypes for gene: ZNF462 were changed from Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay to Weiss-Kruszka syndrome; OMIM#618619
Fetal anomalies v0.2498 ZNF462 Seb Lunke Publications for gene: ZNF462 were set to
Fetal anomalies v0.2497 ZNF462 Seb Lunke Mode of inheritance for gene: ZNF462 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2496 STIL Zornitza Stark Marked gene: STIL as ready
Fetal anomalies v0.2496 STIL Zornitza Stark Gene: stil has been classified as Green List (High Evidence).
Fetal anomalies v0.2496 STIL Zornitza Stark Publications for gene: STIL were set to 29230157
Fetal anomalies v0.2495 STIL Zornitza Stark Classified gene: STIL as Green List (high evidence)
Fetal anomalies v0.2495 STIL Zornitza Stark Gene: stil has been classified as Green List (High Evidence).
Fetal anomalies v0.2494 STIL Zornitza Stark changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported. Brain abnormalities in one.
Mendeliome v0.10656 STRADA Zornitza Stark Marked gene: STRADA as ready
Mendeliome v0.10656 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Mendeliome v0.10656 STRADA Zornitza Stark Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Mendeliome v0.10655 STRADA Zornitza Stark Publications for gene: STRADA were set to
Mendeliome v0.10654 STRADA Zornitza Stark Mode of inheritance for gene: STRADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10653 STRADA Zornitza Stark reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17522105, 27170158, 28688840; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087, Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2494 STRADA Zornitza Stark Marked gene: STRADA as ready
Fetal anomalies v0.2494 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Fetal anomalies v0.2494 STRADA Zornitza Stark Publications for gene: STRADA were set to
Fetal anomalies v0.2493 STRADA Zornitza Stark Classified gene: STRADA as Green List (high evidence)
Fetal anomalies v0.2493 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Fetal anomalies v0.2492 SUFU Zornitza Stark Marked gene: SUFU as ready
Fetal anomalies v0.2492 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Fetal anomalies v0.2492 SUFU Zornitza Stark Phenotypes for gene: SUFU were changed from Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects to Basal cell nevus syndrome, MIM# 109400
Fetal anomalies v0.2491 SUFU Zornitza Stark Mode of inheritance for gene: SUFU was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2490 SUFU Zornitza Stark Classified gene: SUFU as Green List (high evidence)
Fetal anomalies v0.2490 SUFU Zornitza Stark Gene: sufu has been classified as Green List (High Evidence).
Fetal anomalies v0.2489 SUFU Zornitza Stark edited their review of gene: SUFU: Added comment: Rib anomalies and cleft palate are a feature of the mono-allelic disorder.

The signs of the bi-alellic disorder are relatively subtle and unlikely to be detectable antenatally.; Changed rating: GREEN; Changed phenotypes: Basal cell nevus syndrome, MIM# 109400; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2489 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Fetal anomalies v0.2489 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2489 SYNE1 Zornitza Stark Classified gene: SYNE1 as Green List (high evidence)
Fetal anomalies v0.2489 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2488 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Fetal anomalies v0.2488 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2488 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from ACROMELIC FRONTONASAL DYSOSTOSIS to Acromelic frontonasal dysostosis (MIM#603671)
Fetal anomalies v0.2487 ZSWIM6 Zornitza Stark Publications for gene: ZSWIM6 were set to
Fetal anomalies v0.2486 ZSWIM6 Zornitza Stark Mode of inheritance for gene: ZSWIM6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2485 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Green List (high evidence)
Fetal anomalies v0.2485 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2484 ZSWIM6 Zornitza Stark edited their review of gene: ZSWIM6: Added comment: Cleft palate and polydactyly are a feature of the skeletal disorder.

Congenital anomalies are not a prominent feature of the neurodevelopmental disorder associated with this gene.; Changed rating: GREEN; Changed phenotypes: Acromelic frontonasal dysostosis (MIM#603671); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2484 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Fetal anomalies v0.2484 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2484 ZNF423 Zornitza Stark Mode of pathogenicity for gene: ZNF423 was changed from to Other
Fetal anomalies v0.2483 ZMYND11 Zornitza Stark Marked gene: ZMYND11 as ready
Fetal anomalies v0.2483 ZMYND11 Zornitza Stark Gene: zmynd11 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2483 ZMYND11 Zornitza Stark Phenotypes for gene: ZMYND11 were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 30, MIM# 616083
Fetal anomalies v0.2482 ZMYND11 Zornitza Stark Publications for gene: ZMYND11 were set to
Fetal anomalies v0.2481 ZMYND11 Zornitza Stark Mode of inheritance for gene: ZMYND11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2480 ZMYND11 Zornitza Stark Classified gene: ZMYND11 as Red List (low evidence)
Fetal anomalies v0.2480 ZMYND11 Zornitza Stark Gene: zmynd11 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2479 ZMYND11 Zornitza Stark changed review comment from: New case series of additional 16 individuals reported, including four individuals from the same family. Common phenotypic features: developmental delay, particularly affecting speech, mild‐moderate intellectual disability, significant behavioral abnormalities, seizures, and hypotonia. There are subtle shared dysmorphic features, including prominent eyelashes and eyebrows, a depressed nasal bridge with bulbous nasal tip, anteverted nares, thin vermilion of the upper lip, and wide mouth. Novel features include brachydactyly and tooth enamel hypoplasia. Most identified variants are likely to result in premature truncation and/or nonsense‐mediated decay. Two ZMYND11 variants located in the final exon reported —p.(Gln586*) (likely escaping nonsense‐mediated decay) and p.(Cys574Arg)—are predicted to disrupt the MYND‐type zinc‐finger motif and likely interfere with binding to its interaction partners.; to: New case series of additional 16 individuals reported, including four individuals from the same family. Common phenotypic features: developmental delay, particularly affecting speech, mild‐moderate intellectual disability, significant behavioral abnormalities, seizures, and hypotonia. There are subtle shared dysmorphic features, including prominent eyelashes and eyebrows, a depressed nasal bridge with bulbous nasal tip, anteverted nares, thin vermilion of the upper lip, and wide mouth. Novel features include brachydactyly and tooth enamel hypoplasia. Most identified variants are likely to result in premature truncation and/or nonsense‐mediated decay. Two ZMYND11 variants located in the final exon reported —p.(Gln586*) (likely escaping nonsense‐mediated decay) and p.(Cys574Arg)—are predicted to disrupt the MYND‐type zinc‐finger motif and likely interfere with binding to its interaction partners.

Presentation is post-natal.
Fetal anomalies v0.2479 ZMYND11 Zornitza Stark edited their review of gene: ZMYND11: Changed rating: RED
Fetal anomalies v0.2479 ZMYND10 Zornitza Stark Marked gene: ZMYND10 as ready
Fetal anomalies v0.2479 ZMYND10 Zornitza Stark Gene: zmynd10 has been classified as Green List (High Evidence).
Fetal anomalies v0.2479 ZMYND10 Zornitza Stark Phenotypes for gene: ZMYND10 were changed from PRIMARY CILIARY DYSKINESIA-22 to Ciliary dyskinesia, primary, 22, MIM#615444
Fetal anomalies v0.2478 ZMYND10 Zornitza Stark Publications for gene: ZMYND10 were set to
Fetal anomalies v0.2477 ZMYND10 Zornitza Stark Classified gene: ZMYND10 as Green List (high evidence)
Fetal anomalies v0.2477 ZMYND10 Zornitza Stark Gene: zmynd10 has been classified as Green List (High Evidence).
Fetal anomalies v0.2476 ZMYND10 Zornitza Stark changed review comment from: More than 10 families reported.; to: More than 10 families reported. Situs inversus is a feature.
Fetal anomalies v0.2476 YWHAG Zornitza Stark Marked gene: YWHAG as ready
Fetal anomalies v0.2476 YWHAG Zornitza Stark Gene: ywhag has been classified as Red List (Low Evidence).
Fetal anomalies v0.2476 YWHAG Zornitza Stark Phenotypes for gene: YWHAG were changed from Early-Onset Epilepsy to Developmental and epileptic encephalopathy 56, (MIMI#617665)
Fetal anomalies v0.2475 YWHAG Zornitza Stark Publications for gene: YWHAG were set to
Fetal anomalies v0.2474 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2473 YWHAG Zornitza Stark Classified gene: YWHAG as Red List (low evidence)
Fetal anomalies v0.2473 YWHAG Zornitza Stark Gene: ywhag has been classified as Red List (Low Evidence).
Fetal anomalies v0.2472 YWHAG Zornitza Stark changed review comment from: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia.

PMID: 33393734 8x patients all de novo missense. Patient cohort shared with PMID: 31926053 7/8 have mild-mod ID 6/8 have seizures
PMID: 33767733 1x de novo missense and 1x nonsense familial with 6 affecteds. All patients from this study have febrile seizures but normal intelligence and motor development.
PMID: 33590706 1x de novo. mild ID and generalized tonic–clonic seizures; to: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia.

PMID: 33393734 8x patients all de novo missense. Patient cohort shared with PMID: 31926053 7/8 have mild-mod ID 6/8 have seizures
PMID: 33767733 1x de novo missense and 1x nonsense familial with 6 affecteds. All patients from this study have febrile seizures but normal intelligence and motor development.
PMID: 33590706 1x de novo. mild ID and generalized tonic–clonic seizures

Onset in first year of life.
Fetal anomalies v0.2472 YWHAG Zornitza Stark edited their review of gene: YWHAG: Changed rating: RED
Clefting disorders v0.168 YAP1 Zornitza Stark Marked gene: YAP1 as ready
Clefting disorders v0.168 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Clefting disorders v0.168 YAP1 Zornitza Stark Phenotypes for gene: YAP1 were changed from COB1; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433
Clefting disorders v0.167 YAP1 Zornitza Stark Publications for gene: YAP1 were set to 24462371
Clefting disorders v0.166 YAP1 Zornitza Stark Classified gene: YAP1 as Green List (high evidence)
Clefting disorders v0.166 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Clefting disorders v0.165 YAP1 Zornitza Stark reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462371, 27267789, 28801591; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10653 YAP1 Zornitza Stark Mode of inheritance for gene: YAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10652 YAP1 Zornitza Stark edited their review of gene: YAP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10652 YAP1 Zornitza Stark Marked gene: YAP1 as ready
Mendeliome v0.10652 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Mendeliome v0.10652 YAP1 Zornitza Stark Phenotypes for gene: YAP1 were changed from to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433
Mendeliome v0.10651 YAP1 Zornitza Stark Publications for gene: YAP1 were set to
Mendeliome v0.10650 YAP1 Zornitza Stark Mode of inheritance for gene: YAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10649 YAP1 Zornitza Stark reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462371, 27267789, 28801591; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2472 YAP1 Zornitza Stark Marked gene: YAP1 as ready
Fetal anomalies v0.2472 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2472 YAP1 Zornitza Stark Phenotypes for gene: YAP1 were changed from COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433
Fetal anomalies v0.2471 YAP1 Zornitza Stark Publications for gene: YAP1 were set to
Fetal anomalies v0.2470 YAP1 Zornitza Stark Mode of inheritance for gene: YAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2469 YAP1 Zornitza Stark Classified gene: YAP1 as Green List (high evidence)
Fetal anomalies v0.2469 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2468 XYLT2 Zornitza Stark Marked gene: XYLT2 as ready
Fetal anomalies v0.2468 XYLT2 Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2468 XYLT2 Zornitza Stark Phenotypes for gene: XYLT2 were changed from SPONDYLOOCULAR SYNDROME to Spondyloocular syndrome MIM# 605822
Fetal anomalies v0.2467 XYLT2 Zornitza Stark Publications for gene: XYLT2 were set to
Fetal anomalies v0.2466 XYLT2 Zornitza Stark Classified gene: XYLT2 as Green List (high evidence)
Fetal anomalies v0.2466 XYLT2 Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2465 XYLT2 Zornitza Stark changed review comment from: Cataracts are a key feature of this condition.
Sources: Expert list; to: Congenital heart defects.
Sources: Expert list
Fetal anomalies v0.2465 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Fetal anomalies v0.2465 WDR81 Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10649 WDR73 Zornitza Stark Marked gene: WDR73 as ready
Mendeliome v0.10649 WDR73 Zornitza Stark Gene: wdr73 has been classified as Green List (High Evidence).
Mendeliome v0.10649 WDR73 Zornitza Stark Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1, MIM#251300
Mendeliome v0.10648 WDR73 Zornitza Stark Publications for gene: WDR73 were set to
Mendeliome v0.10647 WDR73 Zornitza Stark Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10646 WDR73 Zornitza Stark reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466283, 26123727, 25873735, 26070982, 30315938; Phenotypes: Galloway-Mowat syndrome 1 MIM#251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2465 WDR73 Zornitza Stark Marked gene: WDR73 as ready
Fetal anomalies v0.2465 WDR73 Zornitza Stark Gene: wdr73 has been classified as Green List (High Evidence).
Fetal anomalies v0.2465 WDR73 Zornitza Stark Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome 1, 251300; GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME to Galloway-Mowat syndrome 1, MIM#251300
Fetal anomalies v0.2464 WDR73 Zornitza Stark Publications for gene: WDR73 were set to
Fetal anomalies v0.2463 WDR73 Zornitza Stark Classified gene: WDR73 as Green List (high evidence)
Fetal anomalies v0.2463 WDR73 Zornitza Stark Gene: wdr73 has been classified as Green List (High Evidence).
Fetal anomalies v0.2462 WDR73 Zornitza Stark reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galloway-Mowat syndrome 1 MIM#251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2462 WBP11 Zornitza Stark Marked gene: WBP11 as ready
Fetal anomalies v0.2462 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Fetal anomalies v0.2462 WBP11 Zornitza Stark Phenotypes for gene: WBP11 were changed from Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, #MIM:619227
Fetal anomalies v0.2461 WBP11 Zornitza Stark Mode of inheritance for gene: WBP11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2460 WBP11 Zornitza Stark Classified gene: WBP11 as Green List (high evidence)
Fetal anomalies v0.2460 WBP11 Zornitza Stark Gene: wbp11 has been classified as Green List (High Evidence).
Fetal anomalies v0.2459 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Fetal anomalies v0.2459 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2459 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 1 to Pontocerebellar hypoplasia type 1A MIM#607596
Fetal anomalies v0.2458 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Fetal anomalies v0.2457 VRK1 Zornitza Stark Classified gene: VRK1 as Green List (high evidence)
Fetal anomalies v0.2457 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2456 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Fetal anomalies v0.2456 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2456 VAMP1 Zornitza Stark Phenotypes for gene: VAMP1 were changed from Myasthenic syndrome, congenital, 25 to Myasthenic syndrome, congenital, 25, MIM# 618323
Fetal anomalies v0.2455 VAMP1 Zornitza Stark Classified gene: VAMP1 as Green List (high evidence)
Fetal anomalies v0.2455 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2454 USP9X Zornitza Stark Marked gene: USP9X as ready
Fetal anomalies v0.2454 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Fetal anomalies v0.2454 USP9X Zornitza Stark Phenotypes for gene: USP9X were changed from MENTAL RETARDATION, X-LINKED 99 to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)
Fetal anomalies v0.2453 USP9X Zornitza Stark Publications for gene: USP9X were set to
Fetal anomalies v0.2452 USP9X Zornitza Stark Classified gene: USP9X as Green List (high evidence)
Fetal anomalies v0.2452 USP9X Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence).
Fetal anomalies v0.2451 USP27X Zornitza Stark Marked gene: USP27X as ready
Fetal anomalies v0.2451 USP27X Zornitza Stark Gene: usp27x has been classified as Red List (Low Evidence).
Fetal anomalies v0.2451 USP27X Zornitza Stark Phenotypes for gene: USP27X were changed from INTELLECTUAL DISABILITY to Mental retardation, X-linked 105, MIM#300984
Fetal anomalies v0.2450 USP27X Zornitza Stark Publications for gene: USP27X were set to
Fetal anomalies v0.2449 USP27X Zornitza Stark Classified gene: USP27X as Red List (low evidence)
Fetal anomalies v0.2449 USP27X Zornitza Stark Gene: usp27x has been classified as Red List (Low Evidence).
Fetal anomalies v0.2448 USP27X Zornitza Stark changed review comment from: Four individuals from two unrelated families reported.
Sources: Expert list; to: Four individuals from two unrelated families reported. Post-natal presentation.

Sources: Expert list
Fetal anomalies v0.2448 USP27X Zornitza Stark edited their review of gene: USP27X: Changed rating: RED
Mendeliome v0.10646 USP18 Zornitza Stark Marked gene: USP18 as ready
Mendeliome v0.10646 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Mendeliome v0.10646 USP18 Zornitza Stark Phenotypes for gene: USP18 were changed from to Pseudo-TORCH syndrome 2 MIM#617397
Mendeliome v0.10645 USP18 Zornitza Stark Publications for gene: USP18 were set to
Mendeliome v0.10644 USP18 Zornitza Stark Mode of inheritance for gene: USP18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10643 USP18 Zornitza Stark edited their review of gene: USP18: Changed publications: 31940699, 12833411, 27325888
Mendeliome v0.10643 USP18 Zornitza Stark reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 2 MIM#617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2448 USP18 Zornitza Stark Marked gene: USP18 as ready
Fetal anomalies v0.2448 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Fetal anomalies v0.2448 USP18 Zornitza Stark Phenotypes for gene: USP18 were changed from Pseudo-TORCH syndrome 2, 617397 to Pseudo-TORCH syndrome 2, MIM#617397
Fetal anomalies v0.2447 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Fetal anomalies v0.2447 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Fetal anomalies v0.2446 USP18 Zornitza Stark reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 2 MIM#617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2446 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Fetal anomalies v0.2446 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Fetal anomalies v0.2446 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED to Mitochondrial complex III deficiency, nuclear type 4, MIM #615159
Fetal anomalies v0.2445 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Fetal anomalies v0.2444 UQCRQ Zornitza Stark Classified gene: UQCRQ as Red List (low evidence)
Fetal anomalies v0.2444 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Fetal anomalies v0.2443 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2443 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Fetal anomalies v0.2443 UQCRB Zornitza Stark Gene: uqcrb has been classified as Red List (Low Evidence).
Fetal anomalies v0.2443 UQCRB Zornitza Stark Phenotypes for gene: UQCRB were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED to Mitochondrial complex III deficiency, nuclear type 3, MIM #615158
Fetal anomalies v0.2442 UQCRB Zornitza Stark Publications for gene: UQCRB were set to
Fetal anomalies v0.2441 UQCRB Zornitza Stark Classified gene: UQCRB as Red List (low evidence)
Fetal anomalies v0.2441 UQCRB Zornitza Stark Gene: uqcrb has been classified as Red List (Low Evidence).
Fetal anomalies v0.2440 UQCRB Zornitza Stark reviewed gene: UQCRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM #615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2440 UBTF Zornitza Stark Marked gene: UBTF as ready
Fetal anomalies v0.2440 UBTF Zornitza Stark Gene: ubtf has been classified as Red List (Low Evidence).
Fetal anomalies v0.2440 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from Childhood-Onset Neurodegeneration to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Fetal anomalies v0.2439 UBTF Zornitza Stark Publications for gene: UBTF were set to
Fetal anomalies v0.2438 UBTF Zornitza Stark Mode of inheritance for gene: UBTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2437 UBTF Zornitza Stark Classified gene: UBTF as Red List (low evidence)
Fetal anomalies v0.2437 UBTF Zornitza Stark Gene: ubtf has been classified as Red List (Low Evidence).
Fetal anomalies v0.2436 UBTF Zornitza Stark edited their review of gene: UBTF: Changed rating: RED
Fetal anomalies v0.2436 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Fetal anomalies v0.2436 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Fetal anomalies v0.2436 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP T to Fanconi anaemia, complementation group T, MIM# 616435
Fetal anomalies v0.2435 UBE2T Zornitza Stark Publications for gene: UBE2T were set to 26046368
Fetal anomalies v0.2434 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Fetal anomalies v0.2434 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Fetal anomalies v0.2433 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Early-onset Dementia v0.154 CLN6 Bryony Thompson Marked gene: CLN6 as ready
Early-onset Dementia v0.154 CLN6 Bryony Thompson Gene: cln6 has been classified as Green List (High Evidence).
Early-onset Dementia v0.154 CLN6 Bryony Thompson Classified gene: CLN6 as Green List (high evidence)
Early-onset Dementia v0.154 CLN6 Bryony Thompson Gene: cln6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2433 TXNDC15 Zornitza Stark Marked gene: TXNDC15 as ready
Fetal anomalies v0.2433 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Fetal anomalies v0.2433 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel Gruber syndrome to Meckel Gruber syndrome, MONDO:0018921
Fetal anomalies v0.2432 TXNDC15 Zornitza Stark Publications for gene: TXNDC15 were set to 27894351
Fetal anomalies v0.2431 TXNDC15 Zornitza Stark Classified gene: TXNDC15 as Green List (high evidence)
Fetal anomalies v0.2431 TXNDC15 Zornitza Stark Gene: txndc15 has been classified as Green List (High Evidence).
Fetal anomalies v0.2430 TUFM Zornitza Stark Marked gene: TUFM as ready
Fetal anomalies v0.2430 TUFM Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
Fetal anomalies v0.2430 TUFM Zornitza Stark Phenotypes for gene: TUFM were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 to Combined oxidative phosphorylation deficiency 4, MIM #610678
Fetal anomalies v0.2429 TUFM Zornitza Stark Publications for gene: TUFM were set to
Fetal anomalies v0.2428 TUFM Zornitza Stark Classified gene: TUFM as Green List (high evidence)
Fetal anomalies v0.2428 TUFM Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
Fetal anomalies v0.2427 TUFM Zornitza Stark changed review comment from: IUGR is a feature.; to: IUGR is a feature. Micropolymicrogyria also reported.
Fetal anomalies v0.2427 TUFM Zornitza Stark reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2427 TUBGCP4 Zornitza Stark Marked gene: TUBGCP4 as ready
Fetal anomalies v0.2427 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2427 TUBGCP4 Zornitza Stark Phenotypes for gene: TUBGCP4 were changed from AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. to Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335
Fetal anomalies v0.2426 TUBGCP4 Zornitza Stark Classified gene: TUBGCP4 as Green List (high evidence)
Fetal anomalies v0.2426 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2425 TUBGCP4 Zornitza Stark edited their review of gene: TUBGCP4: Changed rating: GREEN
Fetal anomalies v0.2425 TUBGCP4 Zornitza Stark Deleted their comment
Microcephaly v1.94 TTI2 Zornitza Stark Marked gene: TTI2 as ready
Microcephaly v1.94 TTI2 Zornitza Stark Gene: tti2 has been classified as Green List (High Evidence).
Microcephaly v1.94 TTI2 Zornitza Stark Classified gene: TTI2 as Green List (high evidence)
Microcephaly v1.94 TTI2 Zornitza Stark Gene: tti2 has been classified as Green List (High Evidence).
Microcephaly v1.93 TTI2 Zornitza Stark gene: TTI2 was added
gene: TTI2 was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTI2 were set to 32061250; 23956177; 31737043
Phenotypes for gene: TTI2 were set to Mental retardation, autosomal recessive 39 (MIM#615541)
Review for gene: TTI2 was set to GREEN
Added comment: PMID: 32061250 reviews reports of TTI2-related ID in 6 families. Common features are microcephaly and DD, but there is phenotypic variability reported with syndromic and non-syndromic individuals. Other features include speech delay, short stature, dysmorphic features (high nasal bridge, deep-set eyes), strabismus and dyskenesia. Six missense and one NMD were reported in hom and cHet individuals. Functional evidence is limited, but suggestive of LoF (PMIDs: 23956177, 31737043).
Sources: Expert Review
Fetal anomalies v0.2425 TTI2 Zornitza Stark Marked gene: TTI2 as ready
Fetal anomalies v0.2425 TTI2 Zornitza Stark Gene: tti2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2425 TTI2 Zornitza Stark Phenotypes for gene: TTI2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 39 (MIM#615541); Microcephaly
Fetal anomalies v0.2424 TTI2 Zornitza Stark Publications for gene: TTI2 were set to
Fetal anomalies v0.2423 TTI2 Zornitza Stark Classified gene: TTI2 as Green List (high evidence)
Fetal anomalies v0.2423 TTI2 Zornitza Stark Gene: tti2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2422 TTC25 Zornitza Stark changed review comment from: 2 families reported with PCD. Mouse model showed immotile nodal cilia.
Gene ncodes a component of the outer dynein arm required to develop the main mechanical force to generate ciliary beats. (Gene is non coding in gnomad v2 and coding in v3); to: 2 families reported with PCD. Some individuals had situs inversus. Mouse model showed immotile nodal cilia.
Gene ncodes a component of the outer dynein arm required to develop the main mechanical force to generate ciliary beats. (Gene is non coding in gnomad v2 and coding in v3)
Fetal anomalies v0.2422 TTC25 Zornitza Stark Marked gene: TTC25 as ready
Fetal anomalies v0.2422 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2422 TTC25 Zornitza Stark Phenotypes for gene: TTC25 were changed from Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization to Ciliary dyskinesia, primary, 35 (MIM#617092)
Fetal anomalies v0.2421 TTC25 Zornitza Stark Publications for gene: TTC25 were set to
Fetal anomalies v0.2420 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Fetal anomalies v0.2420 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2420 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 to Pontocerebellar hypoplasia type 2C, MIM# 612390
Fetal anomalies v0.2419 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Fetal anomalies v0.2418 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Fetal anomalies v0.2418 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2417 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Fetal anomalies v0.2417 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2417 TSEN2 Zornitza Stark Phenotypes for gene: TSEN2 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 to Pontocerebellar hypoplasia type 2B (MIM#612389)
Fetal anomalies v0.2416 TSEN2 Zornitza Stark Publications for gene: TSEN2 were set to
Fetal anomalies v0.2415 TSEN2 Zornitza Stark Classified gene: TSEN2 as Green List (high evidence)
Fetal anomalies v0.2415 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2414 TSEN2 Zornitza Stark reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2B (MIM#612389); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2414 TSEN15 Zornitza Stark Marked gene: TSEN15 as ready
Fetal anomalies v0.2414 TSEN15 Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
Fetal anomalies v0.2414 TSEN15 Zornitza Stark Phenotypes for gene: TSEN15 were changed from Pontocerebellar Hypoplasia and Progressive Microcephaly to Pontocerebellar hypoplasia, type 2F MIM#617026
Fetal anomalies v0.2413 TSEN15 Zornitza Stark Publications for gene: TSEN15 were set to
Fetal anomalies v0.2412 TSEN15 Zornitza Stark Classified gene: TSEN15 as Green List (high evidence)
Fetal anomalies v0.2412 TSEN15 Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
Growth failure v1.27 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Growth failure v1.27 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Growth failure v1.27 TRMT10A Zornitza Stark Classified gene: TRMT10A as Green List (high evidence)
Growth failure v1.27 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Growth failure v1.26 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT10A were set to 24204302; 25053765; 33448213; 33067246; 26535115; 26526202; 26297882
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208
Review for gene: TRMT10A was set to GREEN
Added comment: More than 5 unrelated families reported, short stature is a key feature.
Sources: Expert Review
Fetal anomalies v0.2411 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Fetal anomalies v0.2411 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Fetal anomalies v0.2411 TRMT10A Zornitza Stark Phenotypes for gene: TRMT10A were changed from Microcephaly, short stature, and impaired glucose metabolism 1 to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208
Fetal anomalies v0.2410 TRMT10A Zornitza Stark Publications for gene: TRMT10A were set to
Fetal anomalies v0.2409 TRMT10A Zornitza Stark Classified gene: TRMT10A as Green List (high evidence)
Fetal anomalies v0.2409 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Fetal anomalies v0.2408 TRMT10A Zornitza Stark changed review comment from: More than 5 unrelated families reported. ID is a feature.; to: More than 5 unrelated families reported.
Fetal anomalies v0.2408 TRIO Zornitza Stark Marked gene: TRIO as ready
Fetal anomalies v0.2408 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Fetal anomalies v0.2408 TRIO Zornitza Stark Phenotypes for gene: TRIO were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 44, MIM# 617061
Fetal anomalies v0.2407 TRIO Zornitza Stark Publications for gene: TRIO were set to
Fetal anomalies v0.2406 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2405 TRIO Zornitza Stark Classified gene: TRIO as Green List (high evidence)
Fetal anomalies v0.2405 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Fetal anomalies v0.2404 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from Bardet-Biedl syndrome 11, MIM# 615988 to Bardet-Biedl syndrome 11, MIM# 615988; Muscular dystrophy, limb-girdle, autosomal recessive 8, MIM# 254110
Fetal anomalies v0.2403 TRIM32 Zornitza Stark changed review comment from: Single family reported in 2006.; to: BBS: Single family reported in 2006.

Muscular dystrophy: onset is typically in childhood.
Fetal anomalies v0.2403 TRIM32 Zornitza Stark edited their review of gene: TRIM32: Changed phenotypes: Bardet-Biedl syndrome 11, MIM# 615988, Muscular dystrophy, limb-girdle, autosomal recessive 8, MIM# 254110
Fetal anomalies v0.2403 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Fetal anomalies v0.2403 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2403 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from BARDET-BIEDL SYNDROME TYPE 11; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H to Bardet-Biedl syndrome 11, MIM# 615988
Fetal anomalies v0.2402 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Fetal anomalies v0.2402 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2401 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Fetal anomalies v0.2401 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Fetal anomalies v0.2401 TRAPPC12 Zornitza Stark Classified gene: TRAPPC12 as Green List (high evidence)
Fetal anomalies v0.2401 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Fetal anomalies v0.2400 TRAPPC12 Zornitza Stark edited their review of gene: TRAPPC12: Added comment: Agenesis of the corpus callosum and microcephaly.; Changed rating: GREEN
Fetal anomalies v0.2400 TRAPPC12 Zornitza Stark Deleted their comment
Fetal anomalies v0.2400 TRAPPC12 Zornitza Stark Deleted their comment
Fetal anomalies v0.2400 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Fetal anomalies v0.2400 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Fetal anomalies v0.2400 TRAPPC11 Zornitza Stark Phenotypes for gene: TRAPPC11 were changed from MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356
Fetal anomalies v0.2399 TRAPPC11 Zornitza Stark Publications for gene: TRAPPC11 were set to
Fetal anomalies v0.2398 TRAPPC11 Zornitza Stark Classified gene: TRAPPC11 as Green List (high evidence)
Fetal anomalies v0.2398 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Fetal anomalies v0.2397 TRAPPC11 Zornitza Stark reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2397 TRAPPC11 Zornitza Stark Deleted their review
Fetal anomalies v0.2397 TRAIP Zornitza Stark Marked gene: TRAIP as ready
Fetal anomalies v0.2397 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Fetal anomalies v0.2397 TRAIP Zornitza Stark Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 to Seckel syndrome 9, MIM#616777
Fetal anomalies v0.2396 TRAIP Zornitza Stark Classified gene: TRAIP as Green List (high evidence)
Fetal anomalies v0.2396 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Fetal anomalies v0.2395 TRAF3IP1 Zornitza Stark Marked gene: TRAF3IP1 as ready
Fetal anomalies v0.2395 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2395 TRAF3IP1 Zornitza Stark Phenotypes for gene: TRAF3IP1 were changed from Senior-Loken syndrome 9 to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712
Fetal anomalies v0.2394 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to 26487268; 18364699; 21945076
Fetal anomalies v0.2394 TRAF3IP1 Zornitza Stark Publications for gene: TRAF3IP1 were set to
Fetal anomalies v0.2393 TRAF3IP1 Zornitza Stark Classified gene: TRAF3IP1 as Green List (high evidence)
Fetal anomalies v0.2393 TRAF3IP1 Zornitza Stark Gene: traf3ip1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2392 TRAF3IP1 Zornitza Stark changed review comment from: 5 unrelated families, zebrafish and mouse models.; to: 5 unrelated families, zebrafish and mouse models.

Nephronophthisis is a key feature, polydactyly reported in some.
Fetal anomalies v0.2392 TOR1A Zornitza Stark Marked gene: TOR1A as ready
Fetal anomalies v0.2392 TOR1A Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence).
Fetal anomalies v0.2392 TOR1A Zornitza Stark Classified gene: TOR1A as Green List (high evidence)
Fetal anomalies v0.2392 TOR1A Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence).
Fetal anomalies v0.2391 TOE1 Zornitza Stark Marked gene: TOE1 as ready
Fetal anomalies v0.2391 TOE1 Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2391 TOE1 Zornitza Stark Publications for gene: TOE1 were set to
Fetal anomalies v0.2390 TOE1 Zornitza Stark Classified gene: TOE1 as Green List (high evidence)
Fetal anomalies v0.2390 TOE1 Zornitza Stark Gene: toe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2389 TNNT3 Zornitza Stark Marked gene: TNNT3 as ready
Fetal anomalies v0.2389 TNNT3 Zornitza Stark Gene: tnnt3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2389 TNNT3 Zornitza Stark Publications for gene: TNNT3 were set to 25337069; 32779773; 21402185; 17194691; 19142688
Fetal anomalies v0.2388 TNNT3 Zornitza Stark Mode of inheritance for gene: TNNT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2387 TNNT3 Zornitza Stark Classified gene: TNNT3 as Green List (high evidence)
Fetal anomalies v0.2387 TNNT3 Zornitza Stark Gene: tnnt3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2386 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Fetal anomalies v0.2386 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2386 TMX2 Zornitza Stark Classified gene: TMX2 as Green List (high evidence)
Fetal anomalies v0.2386 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2385 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Fetal anomalies v0.2385 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2385 TMTC3 Zornitza Stark Phenotypes for gene: TMTC3 were changed from Cobblestone Lissencephaly to Lissencephaly 8 (MIM#617255)
Fetal anomalies v0.2384 TMTC3 Zornitza Stark Publications for gene: TMTC3 were set to
Fetal anomalies v0.2383 TMTC3 Zornitza Stark Classified gene: TMTC3 as Green List (high evidence)
Fetal anomalies v0.2383 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2382 TMEM98 Zornitza Stark Marked gene: TMEM98 as ready
Fetal anomalies v0.2382 TMEM98 Zornitza Stark Gene: tmem98 has been classified as Green List (High Evidence).
Fetal anomalies v0.2382 TMEM98 Zornitza Stark Mode of inheritance for gene: TMEM98 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2381 TMEM98 Zornitza Stark Classified gene: TMEM98 as Green List (high evidence)
Fetal anomalies v0.2381 TMEM98 Zornitza Stark Gene: tmem98 has been classified as Green List (High Evidence).
Fetal anomalies v0.2380 TMEM38B Zornitza Stark Marked gene: TMEM38B as ready
Fetal anomalies v0.2380 TMEM38B Zornitza Stark Gene: tmem38b has been classified as Green List (High Evidence).
Fetal anomalies v0.2380 TMEM38B Zornitza Stark Publications for gene: TMEM38B were set to 23054245; 23316006
Fetal anomalies v0.2379 TMEM38B Zornitza Stark Classified gene: TMEM38B as Green List (high evidence)
Fetal anomalies v0.2379 TMEM38B Zornitza Stark Gene: tmem38b has been classified as Green List (High Evidence).
Fetal anomalies v0.2378 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Fetal anomalies v0.2378 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Fetal anomalies v0.2378 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296 to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296
Fetal anomalies v0.2377 TMEM216 Zornitza Stark Classified gene: TMEM216 as Green List (high evidence)
Fetal anomalies v0.2377 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Fetal anomalies v0.2376 TMEM107 Zornitza Stark Marked gene: TMEM107 as ready
Fetal anomalies v0.2376 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Green List (High Evidence).
Fetal anomalies v0.2376 TMEM107 Zornitza Stark Classified gene: TMEM107 as Green List (high evidence)
Fetal anomalies v0.2376 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Green List (High Evidence).
Fetal anomalies v0.2375 TMEM107 Zornitza Stark Deleted their comment
Fetal anomalies v0.2375 TMEM107 Zornitza Stark edited their review of gene: TMEM107: Added comment: Overall enough evidence variants cause a ciliopathy phenotype.; Changed rating: GREEN; Changed phenotypes: Meckel syndrome 13 (MIM#617562), Orofaciodigital syndrome XVI (MIM#617563), Joubert syndrome 29 617562; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2375 FOXL2 Belinda Chong reviewed gene: FOXL2: Rating: RED; Mode of pathogenicity: None; Publications: 31077882, 18642388, 17089161; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital Heart Defect v0.170 TKT Zornitza Stark Marked gene: TKT as ready
Congenital Heart Defect v0.170 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.170 TKT Zornitza Stark Classified gene: TKT as Amber List (moderate evidence)
Congenital Heart Defect v0.170 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.169 TKT Zornitza Stark gene: TKT was added
gene: TKT was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKT were set to 27259054
Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects; OMIM #617044
Review for gene: TKT was set to AMBER
Added comment: Boyle et al. (2016) reported 3 families with 5 affected individuals with proportionate short stature, developmental delay, and congenital heart defects. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division.

Two of the families had the same variant ?founder.
Sources: Expert Review
Growth failure v1.25 TKT Zornitza Stark Marked gene: TKT as ready
Growth failure v1.25 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Growth failure v1.25 TKT Zornitza Stark Classified gene: TKT as Amber List (moderate evidence)
Growth failure v1.25 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Growth failure v1.24 TKT Zornitza Stark gene: TKT was added
gene: TKT was added to Growth failure. Sources: Expert list
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKT were set to 27259054
Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects; OMIM #617044
Review for gene: TKT was set to AMBER
Added comment: Boyle et al. (2016) reported 3 families with 5 affected individuals with proportionate short stature, developmental delay, and congenital heart defects. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division.

Two of the families had the same variant ?founder.
Sources: Expert list
Fetal anomalies v0.2375 TKT Zornitza Stark Marked gene: TKT as ready
Fetal anomalies v0.2375 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2375 TKT Zornitza Stark Phenotypes for gene: TKT were changed from Short Stature, Developmental Delay, and Congenital Heart Defects to Short stature, developmental delay, and congenital heart defects; OMIM #617044
Fetal anomalies v0.2374 TKT Zornitza Stark Publications for gene: TKT were set to
Fetal anomalies v0.2373 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Fetal anomalies v0.2373 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2373 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from MENTAL RETARDATION, X-LINKED 12 to Mental retardation, X-linked 12/35 MIM#300957
Fetal anomalies v0.2372 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Fetal anomalies v0.2371 THOC2 Zornitza Stark Classified gene: THOC2 as Green List (high evidence)
Fetal anomalies v0.2371 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2370 THOC2 Zornitza Stark reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29851191; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2370 TENM3 Zornitza Stark Marked gene: TENM3 as ready
Fetal anomalies v0.2370 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2370 TENM3 Zornitza Stark Phenotypes for gene: TENM3 were changed from Microphthalmia, isolated, with coloboma 9, MONDO:0014059; Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145 to Microphthalmia, isolated, with coloboma 9, MONDO:0014059; Microphthalmia, syndromic 15, MIM#615145; coloboma
Fetal anomalies v0.2369 TENM3 Zornitza Stark Classified gene: TENM3 as Green List (high evidence)
Fetal anomalies v0.2369 TENM3 Zornitza Stark Gene: tenm3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2368 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Fetal anomalies v0.2368 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2368 TELO2 Zornitza Stark Publications for gene: TELO2 were set to
Fetal anomalies v0.2367 TELO2 Zornitza Stark Classified gene: TELO2 as Green List (high evidence)
Fetal anomalies v0.2367 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2366 TELO2 Zornitza Stark changed review comment from: Five unrelated families reported.
Sources: Expert list; to: Five unrelated families reported.

Microcephaly, congenital heart disease, renal malformations reported.
Sources: Expert list
Fetal anomalies v0.2366 FN1 Belinda Chong reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100092, 33605604; Phenotypes: Spondylometaphyseal dysplasia, corner fracture type (MIM#184255), Glomerulopathy with fibronectin deposits 2 (MIM#601894); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2366 FMN2 Belinda Chong reviewed gene: FMN2: Rating: RED; Mode of pathogenicity: None; Publications: 25480035, 32162566, 24161494; Phenotypes: Intellectual developmental disorder, autosomal recessive 47 MIM#616193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10643 HAND1 Krithika Murali reviewed gene: HAND1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31286141, 29016838, 29317578, 29179274, 28112363, 27942761, 26581070; Phenotypes: Congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2366 HAND1 Krithika Murali edited their review of gene: HAND1: Added comment: No OMIM gene disease association

PMID: 28112363 Li et al 2017 - HAND1 gene sequenced in 158 unrelated patients with CHDs and 600 controls. A de novo heterozygous truncating variant was identified (c.394A>T p.K132X) in a 5 month old body with double outlet right ventricle and VSD. Absent from gnomad, not present in unaffected parents or in controls. Functional analysis supported loss of HAND1 transcriptional activity.

PMID: 29317578 Wang et al 2017 – article in Chinese, abstract in English. A total of 125 patients with congenital VSD and 210 controls. HAND1 truncating variant identified in an individual with VSD( c.355G>T E119X ). Absent from population database, x1 missense variant at same position 28 hets and x1 synonymous variant with 1 het present in gnomad. No segregation data

PMID: 29179274 Zhi et al 2017 - A novel heterozygous mutation, a substitution of thymine for guanine at nucleotide 346 (c.346G>T), predicting the conversion of a glutamic acid-encoding codon into a stop codon at codon 116 (p.E116X), was detected in a patient with sporadic DCM out of a cohort of 120 Chinese patients with DCM versus 200 healthy controls. Absent from gnomad. No segregation data. Article in Chinese, abstract in English, unlikely to be congenital onset.

PMID: 27942761 Wang et al 2017 - 165 unrelated patients with CHD and 600 unrelated controls. Heterozygous missense HAND1 variant identified in a patient with TOF (c.352C>T p.R118C) . Functional studies supporting significantly reduced transcriptional activity, absent from gnomad, damaging in silicos, no parental testing.

PMID: 26581070 Zhou et al 2016 - heterozygous truncating HAND1 variant, c.313A > T p.R105X identified in a DCM family, absent in controls, reduced transcrptional activities, x1 het inframe deletion at the same position in gnomad and x1 synonymous variant. Segregated with family members with DCM and VSD.

PMID: 31286141 Firulli et al 2020 – mouse models showing that myocardial deletion of Hand1 resulted in morphological defects including interventricular septal defects, abnormal LV papillary muscles and cardiac conduction system defects
PMID: 29016838 Firulli et al 2017 - Hand1A126FS mutation does exhibit embryonic lethal cardiac defects in mouse models; Changed rating: AMBER; Changed publications: 31286141, 29016838, 29317578, 29179274, 28112363, 27942761, 26581070
Congenital Heart Defect v0.168 HAND1 Krithika Murali reviewed gene: HAND1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31286141, 29016838, 29317578, 29179274, 28112363, 27942761, 26581070; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2366 FKBP8 Belinda Chong reviewed gene: FKBP8: Rating: RED; Mode of pathogenicity: None; Publications: 32969478; Phenotypes: spina bifida HP:0002414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10643 ILK Paul De Fazio reviewed gene: ILK: Rating: AMBER; Mode of pathogenicity: None; Publications: 17646580, 27886618, 25163546; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.10643 ZIC4 Michelle Torres reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Regression v0.391 ZIC4 Michelle Torres reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Fetal anomalies v0.2366 FKBP10 Belinda Chong reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20696291, 20362275, 20839288, 21567934, 21567934, 23712425, 22718341; Phenotypes: Bruck syndrome 1 MIM#259450, Osteogenesis imperfecta, type XI MIM#610968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2366 FGF9 Belinda Chong reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140402, 28730625, 19589401, 33174625, 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961, Craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2366 FGF9 Belinda Chong Deleted their review
Fetal anomalies v0.2366 FGF9 Belinda Chong reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19589401, 28730625, 19219044; Phenotypes: Multiple synostoses syndrome 3 MIM#612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10643 FAM46A Belinda Chong reviewed gene: FAM46A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29358272; Phenotypes: Osteogenesis imperfecta, type XVIII MIM#617952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2366 FAM46A Belinda Chong edited their review of gene: FAM46A: Changed publications: 29358272
Fetal anomalies v0.2366 FAM46A Belinda Chong changed review comment from: Comment when marking as ready: HGNC approved name: TENT5A

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life.

In 4 children from 3 unrelated consanguineous families with osteogenesis imperfecta, Doyard et al. (2018) identified homozygosity for mutations in the FAM46A gene. The mutations were identified by exome sequencing and confirmed by Sanger sequencing.; to: Comment when marking as ready: HGNC approved name: TENT5A

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life.

In 4 children from 3 unrelated consanguineous families with osteogenesis imperfecta, Doyard et al. (2018) identified homozygosity for mutations in the FAM46A gene. The mutations were identified by exome sequencing and confirmed by Sanger sequencing.
Fetal anomalies v0.2366 FAM46A Belinda Chong reviewed gene: FAM46A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XVIII MIM#617952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10643 DYNC1I1 Krithika Murali gene: DYNC1I1 was added
gene: DYNC1I1 was added to Mendeliome. Sources: Expert Review,Literature
Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1I1 were set to 22914741; 25231166; 32219838
Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM)
Review for gene: DYNC1I1 was set to GREEN
Added comment: Gene disease association reviewed in Sept 2021 - no new publications.

At least 6 unrelated families with overlapping deletions that included exons 15 and 17 of DYNC1I1. Exons 15 and 17 have previously been shown to act as tissue-specific enhancers of Dlx5/6 in mouse and zebrafish. No SNVs reported in association with disease.
Sources: Expert Review, Literature
Fetal anomalies v0.2366 DYNC1I1 Krithika Murali gene: DYNC1I1 was added
gene: DYNC1I1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1I1 were set to 22914741; 25231166; 32219838
Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM)
Review for gene: DYNC1I1 was set to GREEN
Added comment: Gene disease association reviewed Sept 2021 - no new publications

At least 6 unrelated families with overlapping deletions that included exons 15 and 17 of DYNC1I1. Exons 15 and 17 have previously been shown to act as tissue-specific enhancers of Dlx5/6 in mouse and zebrafish. No SNVs reported in association with disease.
Sources: Literature
Mendeliome v0.10643 GATA5 Krithika Murali reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28180938, 27066509, 34461831, 30229885, 28285006, 25543888, 25515806, 24796370, 23295592, 23289003, 22961344; Phenotypes: Congenital heart defects, multiple types, 5 - #617912; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.168 GATA5 Krithika Murali reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28180938, 27066509, 34461831, 30229885, 28285006, 25543888, 25515806, 24796370, 23295592, 23289003, 22961344; Phenotypes: Congenital heart defects, multiple types, 5 - #617912; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2366 GATA5 Krithika Murali edited their review of gene: GATA5: Added comment: OMIM gene disease association for multiple congenital heart defects both AR and AD inheritance

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AR inheritance - x2 patients with congenital heart disease

PMID 28180938 Hempel et al 2017 - x1 DCDA twin female born at 28+6 weeks after PROM. Ascites, non-immune hydrops fetalis and VSD diagnosed prenatally at 20 weeks. Postnatally diagnosed with ASD, PDA, mild HCM and gallstones. Hydrops likely secondary to congenital heart disease. Also diagnosed with clitoromegaly with transient elevation in 17-hydroxyprogrogesterone till 10 weeks of age and normal adrenal androgen levels. 46 XX confirmed on karyotype. Proband compound het for paternally inherited GATA 5 c.56G > C, p.Ser19Trp variant and maternally inherited c.605C > T, p.Arg202Gln. Carrier arents and twin sister with c.605C > T, p.Arg202Gln unaffected. Arg202Gln absent from population database, p.Ser19Trp - 241 hets in gnomad not seen in homozygous form.

Supportive zebrafish models for GATA5 LoF. Previous mouse models suggest that GATA5 plays a role during mammalian embryogenesis, including heart developmen and progesterone receptor expression.

PMID: 27066509 Kassab et al 2015

Lebanese patient cohort with high rates of consangunity. A total of 185 patients with different forms of congenital heart disease (CHD)were screened for GATA4, GATA5, GATA6 variants + 150 healthy individuals. 2 patients with homozygous GATA5 varianst identified. One patient wtih aortic stenosis, coarctation of the aorta, VSD, PDA with homozygous p.T67P variants - in silicos benign, gnomad 4975 hets and 402 homozygotes. Another patient with double outlet right ventricle / ASD / pulmonary stenosis and homozygous p.Y142H – present in gnomad 39 hets, 0 homozygotes, unaffected consanguineous carrier parents.

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Multiple studies reporting AD inheritance for bicuspid aortic valve, congenital heart disease, DCM, AF - evidence conflicting

PMID 34461831 Ma et al 2021 BMC Cardiovascular Disorders - prospective recruitment of 130 unrelated patients with bicuspid aortic valve with complex congenital heart disease being one of the exclusion criteria. 2 heterozygous GATA5 variants identified present in population database. No segregation data.

PMID: 30229885 Alonso-Montes et al 2018, European Journal of Clinical Investigations - North of Spain cohort. 122 unrelated patients with bicuspid and 154 unaffected patients had GATA4, GATA5 and GATA6 sequencing. Missense p.Arg202Gln in GATA5 identified, absent from gnomad, in-silicos probably damaging, no segregation data.

Zhang et al 2015 PMID 25543888 - DCM cohort heterozygous GATA5 c.719G>A p.G240D identified in a family. Authors report co-segregation with DCM in multiple family members with associated VSD in 2 individuals, functional analyses showed diminished transcriptional activity. In-silicos predict possibily damaging. Variant absent from gnomad but in a region of low exome coverage

Shan et al 2014 PMID 25515806 - analysis of GATA5 gene promoter in 343 patients with VSD and 348 controls. Two novel variants reported in affected individuals but also present in unaffected parents.

PMID 24796370 Bonachea et al 2014 - Cohort of 78 bicuspid aortic patients (50 with isolated BAV and 28 with associated aortic coarctation) had GATA5 sanger sequencing analysis. x2 variants identified. p.Gln3Arg variant present in 447 hets in gnomad – inherited from unaffected mother, p.Leu233Pro – present in 359 hets – apparently de novo

PMID: 23289003 Wei et al 2013 Int Journal Medical Science - cohort of 130 unrelated patients with TOF and 200 unrelated controls. GATA5 c.559C>G p.R187G variant identified in affected individual – although variant absent from gnomad alternative aa change at same position present in gnomad including truncating frameshift variants. GATA5 c.620A>G p.H207R – absent from gnomad. Authors report co-segregation of both variants with TOF in multiple family members, some with additional congenital heart defects.

Wei et al Pediatric Cardiology 2013 PMID 22961344 - GATA5 sequenced in 120 unrelated patients with VSD and 200 controls. Heterozygous GATA5 variant p.L199V identified in a patient with VSD. Author reports co-segregation in multiple affected family members. Variant absent from gnomad with X1 synonymous het variant only at same position; Changed rating: AMBER; Changed publications: 28180938, 27066509, 34461831, 30229885, 28285006, 25543888, 25515806, 24796370, 23295592, 23289003, 22961344
Fetal anomalies v0.2366 TECPR2 Zornitza Stark Marked gene: TECPR2 as ready
Fetal anomalies v0.2366 TECPR2 Zornitza Stark Gene: tecpr2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2366 TECPR2 Zornitza Stark Phenotypes for gene: TECPR2 were changed from HEREDITARY SPASTIC PARAPARESIS to Spastic paraplegia 49, autosomal recessive, 615031; Autonomic-sensory neuropathy; Intellectual disability
Fetal anomalies v0.2365 TECPR2 Zornitza Stark Publications for gene: TECPR2 were set to
Fetal anomalies v0.2364 TECPR2 Zornitza Stark changed review comment from: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent.

Included due to mild CC abnormalities.; to: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent.

Included due to mild CC abnormalities, though clinical presentation is predominantly post-natal.
Fetal anomalies v0.2364 TECPR2 Zornitza Stark edited their review of gene: TECPR2: Changed rating: AMBER
Fetal anomalies v0.2364 TECPR2 Zornitza Stark changed review comment from: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent; to: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent.

Included due to mild CC abnormalities.
Fetal anomalies v0.2364 TCTEX1D2 Zornitza Stark Marked gene: TCTEX1D2 as ready
Fetal anomalies v0.2364 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2364 TCTEX1D2 Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from Jeune asphyxiating thoracic dystrophy; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 to Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
Fetal anomalies v0.2363 TCTEX1D2 Zornitza Stark Classified gene: TCTEX1D2 as Green List (high evidence)
Fetal anomalies v0.2363 TCTEX1D2 Zornitza Stark Gene: tctex1d2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2362 TCF20 Zornitza Stark Marked gene: TCF20 as ready
Fetal anomalies v0.2362 TCF20 Zornitza Stark Gene: tcf20 has been classified as Red List (Low Evidence).
Polydactyly v0.250 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Polydactyly v0.250 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Polydactyly v0.250 TBX22 Zornitza Stark Publications for gene: TBX22 were set to
Polydactyly v0.249 TBX22 Zornitza Stark Phenotypes for gene: TBX22 were changed from to Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905
Fetal anomalies v0.2362 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Polydactyly v0.248 TBX22 Zornitza Stark Mode of inheritance for gene: TBX22 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2361 TCF20 Zornitza Stark Classified gene: TCF20 as Red List (low evidence)
Fetal anomalies v0.2361 TCF20 Zornitza Stark Gene: tcf20 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2360 TCF20 Zornitza Stark changed review comment from: Many unrelated patients reported, including 24 families reported in Torti 2019 (PMID:30739909). Most variants are protein-truncating.; to: Many unrelated patients reported, including 24 families reported in Torti 2019 (PMID:30739909). Most variants are protein-truncating.

Typically presents post-natally.
Fetal anomalies v0.2360 TCF20 Zornitza Stark edited their review of gene: TCF20: Changed rating: RED
Polydactyly v0.247 TBX22 Zornitza Stark Classified gene: TBX22 as Red List (low evidence)
Polydactyly v0.247 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Polydactyly v0.247 TBX22 Zornitza Stark Classified gene: TBX22 as Red List (low evidence)
Polydactyly v0.247 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Mendeliome v0.10643 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Mendeliome v0.10643 TBX22 Zornitza Stark Gene: tbx22 has been classified as Green List (High Evidence).
Polydactyly v0.246 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: 11559848, 12374769, 14729838, 17868388, 22784330, 22784330; Phenotypes: Cleft palate with ankyloglossia, MIM# 303400, Abruzzo-Erickson syndrome, MIM# 302905; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10643 TBX22 Zornitza Stark Phenotypes for gene: TBX22 were changed from to Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905
Mendeliome v0.10642 TBX22 Zornitza Stark Publications for gene: TBX22 were set to
Mendeliome v0.10641 TBX22 Zornitza Stark Mode of inheritance for gene: TBX22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10640 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: GREEN; Mode of pathogenicity: None; Publications: 11559848, 12374769, 14729838, 17868388, 22784330, 22784330; Phenotypes: Cleft palate with ankyloglossia, MIM# 303400, Abruzzo-Erickson syndrome, MIM# 302905; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2360 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Fetal anomalies v0.2360 TBX22 Zornitza Stark Gene: tbx22 has been classified as Green List (High Evidence).
Fetal anomalies v0.2360 TBX22 Zornitza Stark Phenotypes for gene: TBX22 were changed from CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905 to Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905
Fetal anomalies v0.2359 TBX22 Zornitza Stark Publications for gene: TBX22 were set to 22784330
Fetal anomalies v0.2358 TBX22 Zornitza Stark Classified gene: TBX22 as Green List (high evidence)
Fetal anomalies v0.2358 TBX22 Zornitza Stark Gene: tbx22 has been classified as Green List (High Evidence).
Fetal anomalies v0.2357 TBX22 Zornitza Stark Deleted their comment
Fetal anomalies v0.2357 TBX22 Zornitza Stark edited their review of gene: TBX22: Added comment: More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.

Single family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate.; Changed publications: 11559848, 12374769, 14729838, 17868388, 22784330, 22784330
Fetal anomalies v0.2357 TBX22 Zornitza Stark edited their review of gene: TBX22: Changed rating: GREEN; Changed phenotypes: Cleft palate with ankyloglossia, MIM# 303400, Abruzzo-Erickson syndrome, MIM# 302905; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2357 TBR1 Zornitza Stark Marked gene: TBR1 as ready
Fetal anomalies v0.2357 TBR1 Zornitza Stark Gene: tbr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2357 TBR1 Zornitza Stark Phenotypes for gene: TBR1 were changed from AUTISM to Intellectual developmental disorder with autism and speech delay, MIM# 606053
Fetal anomalies v0.2356 TBR1 Zornitza Stark Publications for gene: TBR1 were set to
Fetal anomalies v0.2355 TBR1 Zornitza Stark Mode of inheritance for gene: TBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2354 TBR1 Zornitza Stark edited their review of gene: TBR1: Changed rating: AMBER
Fetal anomalies v0.2354 TBR1 Zornitza Stark changed review comment from: Heterozygous de novo PTC and missense variants reported in at least 7 unrelated patients with impaired intellectual development with autism and speech delay (PMID: 25232744, 30250039).; to: Heterozygous de novo PTC and missense variants reported in at least 7 unrelated patients with impaired intellectual development with autism and speech delay (PMID: 25232744, 30250039).

Pachygyria in some individuals.
Fetal anomalies v0.2354 TAF13 Zornitza Stark Marked gene: TAF13 as ready
Fetal anomalies v0.2354 TAF13 Zornitza Stark Gene: taf13 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2354 TAF13 Zornitza Stark Phenotypes for gene: TAF13 were changed from Autosomal-Recessive Intellectual Disability and Microcephaly to Mental retardation, autosomal recessive 60, MIM# 617432; Microcephaly
Fetal anomalies v0.2353 TAF13 Zornitza Stark Publications for gene: TAF13 were set to
Fetal anomalies v0.2352 MYPN Ain Roesley edited their review of gene: MYPN: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.2352 MYPN Ain Roesley reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: None; Publications: 28017374, 28220527, 31133047; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336 AR, cardiomyopathy MIM#615248 AD; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10640 MYPN Ain Roesley reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336 AR, cardiomyopathy MIM#615248 AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYOD1 Ain Roesley reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26733463, 30403323, 31260566; Phenotypes: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MIM#618975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYO18B Ain Roesley reviewed gene: MYO18B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25748484, 27858739, 32637634, 32184166, 27879346, 33179433; Phenotypes: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism MIM#616549; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYLK Ain Roesley changed review comment from: 2 consanguineous families for AR Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210

Well established for AD Aortic aneurysm, familial thoracic 7, MIM#600922; to: 2 consanguineous families for AR Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210
1x hom fs and 1x hom splice

Well established for AD Aortic aneurysm, familial thoracic 7, MIM#600922
Fetal anomalies v0.2352 MYLK Ain Roesley reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28602422; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYL9 Ain Roesley reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 32621347, 33264186, 29453416, 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MYLK Ain Roesley Deleted their review
Vascular Malformations_Germline v1.9 PDGFRB Bryony Thompson Classified gene: PDGFRB as Green List (high evidence)
Vascular Malformations_Germline v1.9 PDGFRB Bryony Thompson Gene: pdgfrb has been classified as Green List (High Evidence).
Fetal anomalies v0.2352 MYLK Ain Roesley reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32621347, 33264186, 29453416, 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 MYL9 Ain Roesley Deleted their comment
Mendeliome v0.10640 MYL9 Ain Roesley edited their review of gene: MYL9: Added comment: PMID:32621347;
3rd family with non-consanguineous parents and 3 TOPs. 2 were genotyped and found to be hom for the same deletion of exon 4 as reported by PMID: 29453416

Possibly 4th proband in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; Changed publications: 32621347, 33264186
Fetal anomalies v0.2352 MYL9 Ain Roesley Deleted their review
Fetal anomalies v0.2352 MYL9 Ain Roesley Deleted their comment
Mendeliome v0.10640 MYL9 Ain Roesley edited their review of gene: MYL9: Changed publications: 32621347
Fetal anomalies v0.2352 MYL9 Ain Roesley reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 29453416, 33031641, 33264186; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 MYL9 Ain Roesley reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33264186; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 MSTO1 Ain Roesley reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2352 MSTO1 Ain Roesley reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 FOXH1 Krithika Murali reviewed gene: FOXH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18538293, 19933292, 32003456, 12094232, 16304598; Phenotypes: Congenital heart disease, holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2352 MED13L Ain Roesley reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: None; Publications: 33930262, 29959045, 32646507; Phenotypes: Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2352 TACO1 Zornitza Stark Marked gene: TACO1 as ready
Fetal anomalies v0.2352 TACO1 Zornitza Stark Gene: taco1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2352 TACO1 Zornitza Stark Phenotypes for gene: TACO1 were changed from LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, OMIM #220110
Fetal anomalies v0.2351 TACO1 Zornitza Stark Publications for gene: TACO1 were set to
Fetal anomalies v0.2350 TACO1 Zornitza Stark Classified gene: TACO1 as Red List (low evidence)
Fetal anomalies v0.2350 TACO1 Zornitza Stark Gene: taco1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2349 TACO1 Zornitza Stark reviewed gene: TACO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, OMIM #220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2349 MECR Ain Roesley reviewed gene: MECR: Rating: RED; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected. 7 unrelated families reported.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2349 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Fetal anomalies v0.2349 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2349 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, MIM# 269160
Fetal anomalies v0.2348 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Fetal anomalies v0.2347 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2346 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Fetal anomalies v0.2346 EML1 Zornitza Stark Marked gene: EML1 as ready
Fetal anomalies v0.2346 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2346 EML1 Zornitza Stark Publications for gene: EML1 were set to
Fetal anomalies v0.2345 EML1 Zornitza Stark Classified gene: EML1 as Green List (high evidence)
Fetal anomalies v0.2345 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2344 EMG1 Zornitza Stark Marked gene: EMG1 as ready
Fetal anomalies v0.2344 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2344 EMG1 Zornitza Stark Phenotypes for gene: EMG1 were changed from Bowen-Conradi syndrome, 211180; Bowen-Conradi syndrome to Bowen-Conradi syndrome, MIM#211180
Fetal anomalies v0.2343 MECOM Ain Roesley reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29146883, 29519864, 26581901; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2343 EMG1 Zornitza Stark Tag founder tag was added to gene: EMG1.
Fetal anomalies v0.2343 EMG1 Zornitza Stark changed review comment from: Founder mutation in Hutterite, D86G.
Sources: Expert list; to: Founder mutation in Hutterite, D86G.

SGA, contractures.

Sources: Expert list
Fetal anomalies v0.2343 EMC1 Zornitza Stark Marked gene: EMC1 as ready
Fetal anomalies v0.2343 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2343 EMC1 Zornitza Stark Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875
Fetal anomalies v0.2342 EMC1 Zornitza Stark Publications for gene: EMC1 were set to
Fetal anomalies v0.2341 EMC1 Zornitza Stark Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2340 EMC1 Zornitza Stark Classified gene: EMC1 as Green List (high evidence)
Fetal anomalies v0.2340 EMC1 Zornitza Stark Gene: emc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2339 EMC1 Zornitza Stark changed review comment from: Four unrelated families with bi-allelic variants in this gene reported. Single individual with heterozygous variant: insufficient evidence at present for mono allelic variants causing disease.
Sources: Expert list; to: Four unrelated families with bi-allelic variants in this gene reported. Microcephaly is acquired; CC abnormalities reported.

Single individual with heterozygous variant: insufficient evidence at present for mono allelic variants causing disease.
Sources: Expert list
Fetal anomalies v0.2339 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Fetal anomalies v0.2339 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2339 EIF2S3 Zornitza Stark Publications for gene: EIF2S3 were set to
Fetal anomalies v0.2338 EIF2S3 Zornitza Stark Classified gene: EIF2S3 as Green List (high evidence)
Fetal anomalies v0.2338 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2337 EIF2S3 Zornitza Stark changed review comment from: 9 families reported (3 had the same variant) with MEHMO syndrome (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity).; to: 9 families reported (3 had the same variant) with MEHMO syndrome (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity).

Cleft palate also reported.
Fetal anomalies v0.2337 EHBP1L1 Zornitza Stark Marked gene: EHBP1L1 as ready
Fetal anomalies v0.2337 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2337 EHBP1L1 Zornitza Stark Phenotypes for gene: EHBP1L1 were changed from non-immune hydrops fetalis MONDO:0009369 to Non-immune hydrops fetalis MONDO:0009369
Fetal anomalies v0.2336 EEF1A2 Zornitza Stark Marked gene: EEF1A2 as ready
Fetal anomalies v0.2336 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2336 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from INFANTILE EPILEPTIC ENCEPHALOPATHY to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625
Fetal anomalies v0.2335 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to
Fetal anomalies v0.2334 EEF1A2 Zornitza Stark Mode of pathogenicity for gene: EEF1A2 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 v0.2333 EEF1A2 Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2332 EEF1A2 Zornitza Stark Classified gene: EEF1A2 as Red List (low evidence)
Fetal anomalies v0.2332 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2331 EEF1A2 Zornitza Stark changed review comment from: PMID: 32160274 - Davies et al 2020 - several reports of de novo missense mutations in EEF1A2 associated with neurodevelopmental disorders but no clear loss of function mutations. They created mice with a missense mutation in EEF1A2 (D252H) in both heterozygous and homozygous state and EEF1A2 null mutant mice and analysed using behavioural and motor phenotyping alongside molecular modelling and analysis of binding partners. They found the D252H homozygous mice were more severely affected than null homozygotes on the same genetic background. The results suggest that the D252H mutation results in a gain of function.; to: PMID: 32160274 - Davies et al 2020 - several reports of de novo missense mutations in EEF1A2 associated with neurodevelopmental disorders but no clear loss of function mutations. They created mice with a missense mutation in EEF1A2 (D252H) in both heterozygous and homozygous state and EEF1A2 null mutant mice and analysed using behavioural and motor phenotyping alongside molecular modelling and analysis of binding partners. They found the D252H homozygous mice were more severely affected than null homozygotes on the same genetic background. The results suggest that the D252H mutation results in a gain of function.

However, presentation is typically post-natal.
Fetal anomalies v0.2331 EEF1A2 Zornitza Stark edited their review of gene: EEF1A2: Changed rating: RED
Fetal anomalies v0.2331 EED Zornitza Stark Marked gene: EED as ready
Fetal anomalies v0.2331 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Fetal anomalies v0.2331 EED Zornitza Stark Publications for gene: EED were set to
Fetal anomalies v0.2330 EED Zornitza Stark Mode of inheritance for gene: EED was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2329 EED Zornitza Stark Classified gene: EED as Green List (high evidence)
Fetal anomalies v0.2329 EED Zornitza Stark Gene: eed has been classified as Green List (High Evidence).
Fetal anomalies v0.2328 DRC1 Zornitza Stark Marked gene: DRC1 as ready
Fetal anomalies v0.2328 DRC1 Zornitza Stark Gene: drc1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2328 DRC1 Zornitza Stark Phenotypes for gene: DRC1 were changed from PRIMARY CILARY DYSKINEASIA to Ciliary dyskinesia, primary, 21, MIM# 615294
Fetal anomalies v0.2327 DRC1 Zornitza Stark Publications for gene: DRC1 were set to
Fetal anomalies v0.2326 DRC1 Zornitza Stark Classified gene: DRC1 as Red List (low evidence)
Fetal anomalies v0.2326 DRC1 Zornitza Stark Gene: drc1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2325 DPM3 Zornitza Stark Marked gene: DPM3 as ready
Fetal anomalies v0.2325 DPM3 Zornitza Stark Gene: dpm3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2325 DPM3 Zornitza Stark Phenotypes for gene: DPM3 were changed from ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 to Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
Fetal anomalies v0.2324 DPM3 Zornitza Stark Publications for gene: DPM3 were set to
Fetal anomalies v0.2323 DPM3 Zornitza Stark Classified gene: DPM3 as Red List (low evidence)
Fetal anomalies v0.2323 DPM3 Zornitza Stark Gene: dpm3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2322 DPM3 Zornitza Stark changed review comment from: Most affected individuals reported to date have not had ID.; to: Most affected individuals reported to date have not had ID. Predominantly limb-girdle weakness with onset in later childhood or adulthood.
Fetal anomalies v0.2322 MDH2 Ain Roesley reviewed gene: MDH2: Rating: RED; Mode of pathogenicity: None; Publications: 27989324, 34766628; Phenotypes: Developmental and epileptic encephalopathy 51 MIM#617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Heart Defect v0.168 FOXH1 Krithika Murali reviewed gene: FOXH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18538293, 19933292, 32003456, 12094232, 16304598; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2322 DPM2 Zornitza Stark Marked gene: DPM2 as ready
Fetal anomalies v0.2322 DPM2 Zornitza Stark Gene: dpm2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2322 DPM2 Zornitza Stark Publications for gene: DPM2 were set to
Fetal anomalies v0.2321 DPM2 Zornitza Stark Classified gene: DPM2 as Green List (high evidence)
Fetal anomalies v0.2321 DPM2 Zornitza Stark Gene: dpm2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2320 DPM2 Zornitza Stark changed review comment from: 3 patients from 2 families reported.; to: 3 patients from 2 families reported.

Congenital contractures.
Mendeliome v0.10640 MDH2 Ain Roesley reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34766628, 27989324; Phenotypes: Developmental and epileptic encephalopathy 51 MIM#617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2320 FOXH1 Krithika Murali edited their review of gene: FOXH1: Added comment: No OMIM gene disease association. Overall, evidence for this gene and its association with congenital heart disease is conflicting.

Roessler et al 2008 PMID 18538293
Pilot consortium study of 375 unrelated individuals prospectively ascertained with cardiovascular malformations. Patients not seen at NIH and parents/siblings not consented. Therefore only samples from proband collected. Also screened 300-500 patients with holoprosencephaly and 125 unrelated controls. Over 60 heterozygous FOXH1 variants reported in patients with congenital heart disease or holoprosencephaly. The majority of reported variants were of questionable pathogenicity as they were present in gnomad, had variants present in gnomad with alternative amino acid changes at the same position, had limited evidence of effect on FOXH1 functional activity or were synonymous variants. Furthermore, no variant segregation data available.

De Luca et al 2009 PMID 19933292
FOXH1 (Pro21Ser) missense variant identified. Not present in gnomad but in area of low coverage, alternative aa change reported in the same location in x1 het. Identified in proband with TGA and x2 other unaffected family members. Proband who was also heterozogous for an amino acid substitution (Gly17Cys) in the ZIC3 gene

Wei et al 2020 Clinical Genetics PMID 32003456
Exome sequencing performed in 605 patients with sporadic conotruncal defects and 300 controls in patients of Chinese descent with ages ranging from 6 days to 12 years old, majority <2 years old. 14 gene panel used. Identified 7 FOXH1 missense variants in 10 unrelated patients with congenital heart disease. All reported variants associated with reduced protein expression of FOXH1 protein on Western blot to varying degrees. No segregation data provided.
• FOXH1 c.104C>G p.P35R identified in a 9 month old with double outlet right ventricle. Absent from gnomad but is in an area of low exome coverage. Variant with alternative amino acid change at same position (FOXH1 c.104C>T p.P35L) previously identified in a patient with congenital heart disease (Roessler et al 2008)
• X2 patients - FOXH1 c.205T>C p.Phe69Leu. Also present in gnomad – x1 het non-Finnish European. X1 patient with alternative amino acid change at same position also identified (FOXH1 c.206T>C p.Phe69Ser) – absent from gnomad.
• X2 patients with FOXH1 c.209T>C p.Phe70Ser - absent from gnomad
• X2 patients with FOXH1 c.232A>G p.Lys78Glu – x2 hets gnomad (European non-Finnish, South Asian)
• X1 patient with FOXH1 c.277A>G p.Lys93Glu – x1 het gnomad (European Finnish)
• X1 patients FOXH1 c.277A>G p.Glu165Gln – absent from gnomad, benign in silicos

PMID 12094232, PMID 16304598 - Previous mouse models have demonstrated a role for Foxh1 in heart morphogenesis.; Changed rating: AMBER; Changed publications: 18538293, 19933292, 32003456, 12094232, 16304598; Changed phenotypes: Congenital heart disease
Fetal anomalies v0.2320 DPH1 Zornitza Stark Marked gene: DPH1 as ready
Fetal anomalies v0.2320 DPH1 Zornitza Stark Gene: dph1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2320 DPH1 Zornitza Stark Classified gene: DPH1 as Green List (high evidence)
Fetal anomalies v0.2320 DPH1 Zornitza Stark Gene: dph1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2319 DONSON Zornitza Stark Marked gene: DONSON as ready
Fetal anomalies v0.2319 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Fetal anomalies v0.2319 DONSON Zornitza Stark Phenotypes for gene: DONSON were changed from Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604 to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619
Fetal anomalies v0.2318 DONSON Zornitza Stark Publications for gene: DONSON were set to
Fetal anomalies v0.2317 DONSON Zornitza Stark Classified gene: DONSON as Green List (high evidence)
Fetal anomalies v0.2317 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Fetal anomalies v0.2316 DOCK7 Zornitza Stark Marked gene: DOCK7 as ready
Fetal anomalies v0.2316 DOCK7 Zornitza Stark Gene: dock7 has been classified as Green List (High Evidence).
Mendeliome v0.10640 MBOAT7 Ain Roesley reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: intellectual disability MIM#617188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2316 MBOAT7 Ain Roesley changed review comment from: 20 families with ID and seizures as main features
microcephaly reported though OFC at birth are largely unknown
low birth weight (>-3SD) reported in 1 family; to: > 20 families with ID and seizures as main features
microcephaly reported though OFC at birth are largely unknown
low birth weight (>-3SD) reported in 1 family
Fetal anomalies v0.2316 MBOAT7 Ain Roesley reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: None; Publications: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: intellectual disability MIM#617188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2316 DOCK7 Zornitza Stark Phenotypes for gene: DOCK7 were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 to Developmental and epileptic encephalopathy 23 MIM#615859
Fetal anomalies v0.2315 DOCK7 Zornitza Stark Publications for gene: DOCK7 were set to
Fetal anomalies v0.2314 DOCK7 Zornitza Stark Classified gene: DOCK7 as Green List (high evidence)
Fetal anomalies v0.2314 DOCK7 Zornitza Stark Gene: dock7 has been classified as Green List (High Evidence).
Fetal anomalies v0.2313 DOCK7 Zornitza Stark reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2313 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Fetal anomalies v0.2313 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2313 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from Lethal congenital contracture syndrome 5, 615368 to Lethal congenital contracture syndrome 5, MIM#615368
Fetal anomalies v0.2312 DNM2 Zornitza Stark Mode of inheritance for gene: DNM2 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 v0.2311 DNM2 Zornitza Stark Classified gene: DNM2 as Red List (low evidence)
Fetal anomalies v0.2311 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2310 DNM2 Zornitza Stark changed review comment from: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease.
Sources: Expert Review; to: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease and generally have onset in childhood or later.
Sources: Expert Review
Fetal anomalies v0.2310 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Fetal anomalies v0.2310 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Fetal anomalies v0.2310 DNM1L Zornitza Stark Mode of pathogenicity for gene: DNM1L was changed from to Other
Fetal anomalies v0.2309 DNM1L Zornitza Stark Publications for gene: DNM1L were set to
Fetal anomalies v0.2308 DNM1L Zornitza Stark Classified gene: DNM1L as Green List (high evidence)
Fetal anomalies v0.2308 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Fetal anomalies v0.2307 DNM1L Zornitza Stark changed review comment from: Dominant and recessive disease described depending on domain affected; dominant negative effect of heterozygous missense variants. LoF/LoF or LoF/missense for AR variants.; to: Dominant and recessive disease described depending on domain affected; dominant negative effect of heterozygous missense variants. LoF/LoF or LoF/missense for AR variants.

Decreased fetal movements reported.
Fetal anomalies v0.2307 MAT1A Ain Roesley reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: None; Publications: 27604308, 7560086; Phenotypes: Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850, Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850, Disorders of the metabolism of sulphur amino acids; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2307 MAP3K7 Ain Roesley reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27426734, 27426733; Phenotypes: Cardiospondylocarpofacial syndrome MIM#157800 AD, Frontometaphyseal dysplasia 2 MIM#617137 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.2307 MAP3K20 Ain Roesley reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27816943, 26755636; Phenotypes: Centronuclear myopathy 6 with fiber-type disproportion MIM#617760, Split-foot malformation with mesoaxial polydactyly MIM#616890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4441 LMBRD2 Zornitza Stark Phenotypes for gene: LMBRD2 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye to Developmental delay with variable neurologic and brain abnormalities, MIM# 619694; Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Intellectual disability syndromic and non-syndromic v0.4440 LMBRD2 Zornitza Stark edited their review of gene: LMBRD2: Changed phenotypes: Developmental delay with variable neurologic and brain abnormalities, MIM# 619694, Intellectual disability
Genetic Epilepsy v0.1422 LMBRD2 Zornitza Stark Phenotypes for gene: LMBRD2 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye to Developmental delay with variable neurologic and brain abnormalities, MIM# 619694; Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Genetic Epilepsy v0.1421 LMBRD2 Zornitza Stark edited their review of gene: LMBRD2: Changed phenotypes: Developmental delay with variable neurologic and brain abnormalities, MIM# 619694, Global developmental delay, Intellectual disability, Microcephaly, Seizures, Abnormality of nervous system morphology, Abnormality of the eye
Mendeliome v0.10640 LMBRD2 Zornitza Stark Phenotypes for gene: LMBRD2 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye to Developmental delay with variable neurologic and brain abnormalities, MIM# 619694; Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Mendeliome v0.10639 LMBRD2 Zornitza Stark edited their review of gene: LMBRD2: Changed phenotypes: Developmental delay with variable neurologic and brain abnormalities, MIM# 619694, Global developmental delay, Intellectual disability, Microcephaly, Seizures, Abnormality of nervous system morphology, Abnormality of the eye
Intellectual disability syndromic and non-syndromic v0.4440 OGDHL Zornitza Stark Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Intellectual disability syndromic and non-syndromic v0.4439 OGDHL Zornitza Stark reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.112 OGDHL Zornitza Stark Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Deafness_IsolatedAndComplex v1.111 OGDHL Zornitza Stark reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1421 OGDHL Zornitza Stark Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Genetic Epilepsy v0.1420 OGDHL Zornitza Stark edited their review of gene: OGDHL: Changed phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701, Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Mendeliome v0.10639 OGDHL Zornitza Stark Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Mendeliome v0.10638 OGDHL Zornitza Stark reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10638 ANAPC7 Zornitza Stark Marked gene: ANAPC7 as ready
Mendeliome v0.10638 ANAPC7 Zornitza Stark Gene: anapc7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10638 ANAPC7 Zornitza Stark Classified gene: ANAPC7 as Amber List (moderate evidence)
Mendeliome v0.10638 ANAPC7 Zornitza Stark Gene: anapc7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10637 ANAPC7 Zornitza Stark gene: ANAPC7 was added
gene: ANAPC7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANAPC7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC7 were set to 34942119
Phenotypes for gene: ANAPC7 were set to Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699
Review for gene: ANAPC7 was set to AMBER
Added comment: 11 individuals of Amish heritage reported homozygous for an intragenic deletion. Clinical features included ID, hypotonia, deafness in 5, relatively small head size (but microcephaly only in 1), and occasional congenital anomalies.

Supportive mouse model.

Amber rating in light of this being a founder variant.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4439 ANAPC7 Zornitza Stark Tag SV/CNV tag was added to gene: ANAPC7.
Tag founder tag was added to gene: ANAPC7.
Intellectual disability syndromic and non-syndromic v0.4439 ANAPC7 Zornitza Stark Marked gene: ANAPC7 as ready
Intellectual disability syndromic and non-syndromic v0.4439 ANAPC7 Zornitza Stark Gene: anapc7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4439 ANAPC7 Zornitza Stark Classified gene: ANAPC7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4439 ANAPC7 Zornitza Stark Gene: anapc7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4438 ANAPC7 Zornitza Stark gene: ANAPC7 was added
gene: ANAPC7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ANAPC7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC7 were set to 34942119
Phenotypes for gene: ANAPC7 were set to Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699
Review for gene: ANAPC7 was set to AMBER
Added comment: 11 individuals of Amish heritage reported homozygous for an intragenic deletion. Clinical features included ID, hypotonia, deafness in 5, relatively small head size (but microcephaly only in 1), and occasional congenital anomalies.

Supportive mouse model.

Amber rating in light of this being a founder variant.
Sources: Literature
Fetal anomalies v0.2307 DYNC2LI1 Zornitza Stark Marked gene: DYNC2LI1 as ready
Fetal anomalies v0.2307 DYNC2LI1 Zornitza Stark Gene: dync2li1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2307 DYNC2LI1 Zornitza Stark Phenotypes for gene: DYNC2LI1 were changed from Short-rib thoracic dysplasia 15 with polydactyly, 617088 to Short-rib thoracic dysplasia 15 with polydactyly, MIM#617088
Fetal anomalies v0.2306 DYNC2LI1 Zornitza Stark Publications for gene: DYNC2LI1 were set to
Fetal anomalies v0.2305 DYNC2LI1 Zornitza Stark Classified gene: DYNC2LI1 as Green List (high evidence)
Fetal anomalies v0.2305 DYNC2LI1 Zornitza Stark Gene: dync2li1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2304 DNM1 Zornitza Stark Marked gene: DNM1 as ready
Fetal anomalies v0.2304 DNM1 Zornitza Stark Gene: dnm1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2304 DNM1 Zornitza Stark Phenotypes for gene: DNM1 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 31, OMIM:616346
Fetal anomalies v0.2303 DNM1 Zornitza Stark Publications for gene: DNM1 were set to
Fetal anomalies v0.2302 DNM1 Zornitza Stark Mode of inheritance for gene: DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2301 DNM1 Zornitza Stark Classified gene: DNM1 as Red List (low evidence)
Fetal anomalies v0.2301 DNM1 Zornitza Stark Gene: dnm1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2300 DNM1 Zornitza Stark changed review comment from: Well-established link between heterozygous variants in DNM1 and developmental and epileptic encephalopathy. Yigit et al. 2021 (PMID: 34172529) recently reported two unrelated patients with DEE and homozygous truncating variants (c.97C>T; p.(Gln33*) and c.850C>T; p.(Gln284*), respectively) in the DNM1 gene. All parents were heterozygous carriers but did not show any clinical symptoms indicating a recessive inheritance pattern. No function studies were performed.; to: Well-established link between heterozygous variants in DNM1 and developmental and epileptic encephalopathy. Yigit et al. 2021 (PMID: 34172529) recently reported two unrelated patients with DEE and homozygous truncating variants (c.97C>T; p.(Gln33*) and c.850C>T; p.(Gln284*), respectively) in the DNM1 gene. All parents were heterozygous carriers but did not show any clinical symptoms indicating a recessive inheritance pattern. No function studies were performed.

Clinical presentation is typically post-natal.
Fetal anomalies v0.2300 DNM1 Zornitza Stark edited their review of gene: DNM1: Changed rating: RED
Fetal anomalies v0.2300 DNAL1 Zornitza Stark Marked gene: DNAL1 as ready
Fetal anomalies v0.2300 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.2300 DNAL1 Zornitza Stark Phenotypes for gene: DNAL1 were changed from Ciliary dyskinesia, primary, 16, 614017 to Ciliary dyskinesia, primary, 16, MIM# 614017
Fetal anomalies v0.2299 DNAL1 Zornitza Stark Publications for gene: DNAL1 were set to
Fetal anomalies v0.2298 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Fetal anomalies v0.2298 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2298 DNAJC12 Zornitza Stark Phenotypes for gene: DNAJC12 were changed from Hyperphenylalaninemia, Dystonia, and Intellectual Disability to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Fetal anomalies v0.2297 DNAJC12 Zornitza Stark Classified gene: DNAJC12 as Red List (low evidence)
Fetal anomalies v0.2297 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2296 DNAJC12 Zornitza Stark changed review comment from: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable.
Sources: Expert list; to: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable.

Clinical presentation is post-natal.
Sources: Expert list
Fetal anomalies v0.2296 DNAJC12 Zornitza Stark edited their review of gene: DNAJC12: Changed rating: RED
Fetal anomalies v0.2296 DNAI2 Zornitza Stark Marked gene: DNAI2 as ready
Fetal anomalies v0.2296 DNAI2 Zornitza Stark Gene: dnai2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2296 DNAI2 Zornitza Stark Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus,612444 to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444
Fetal anomalies v0.2295 DNAI2 Zornitza Stark Publications for gene: DNAI2 were set to
Fetal anomalies v0.2294 DNAI2 Zornitza Stark Classified gene: DNAI2 as Green List (high evidence)
Fetal anomalies v0.2294 DNAI2 Zornitza Stark Gene: dnai2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2293 DNAAF5 Zornitza Stark Marked gene: DNAAF5 as ready
Fetal anomalies v0.2293 DNAAF5 Zornitza Stark Gene: dnaaf5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2293 DNAAF5 Zornitza Stark Publications for gene: DNAAF5 were set to
Fetal anomalies v0.2292 DNAAF5 Zornitza Stark Classified gene: DNAAF5 as Green List (high evidence)
Fetal anomalies v0.2292 DNAAF5 Zornitza Stark Gene: dnaaf5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2291 DNAAF2 Zornitza Stark Marked gene: DNAAF2 as ready
Fetal anomalies v0.2291 DNAAF2 Zornitza Stark Gene: dnaaf2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2291 DNAAF2 Zornitza Stark Publications for gene: DNAAF2 were set to
Fetal anomalies v0.2290 DNAAF2 Zornitza Stark Classified gene: DNAAF2 as Green List (high evidence)
Fetal anomalies v0.2290 DNAAF2 Zornitza Stark Gene: dnaaf2 has been classified as Green List (High Evidence).
Mendeliome v0.10636 DLX5 Zornitza Stark Marked gene: DLX5 as ready
Mendeliome v0.10636 DLX5 Zornitza Stark Gene: dlx5 has been classified as Green List (High Evidence).
Mendeliome v0.10636 DLX5 Zornitza Stark Phenotypes for gene: DLX5 were changed from to Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600; Split-hand/foot malformation 1 MIM#183600
Mendeliome v0.10635 DLX5 Zornitza Stark Publications for gene: DLX5 were set to
Mendeliome v0.10634 DLX5 Zornitza Stark Mode of inheritance for gene: DLX5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10633 DLX5 Zornitza Stark changed review comment from: A homozygous missense mutation (Q178P) was identified in 2 affected sisters from a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, who had no detectable chromosomal aberration, Shamseldin et al. (2012).

A heterozygosity missense mutation (Q186H) was identified in a 31-year-old Chinese woman with SHFM, Wang et al. (2014).
A heterozygosity nonsense mutationIn (E39X) was identified in the probands from 2 unrelated Polish families with isolated SHFM, Sowinska-Seidler et al. (2014).

Animal model evidence - mouse; to: A homozygous missense mutation (Q178P) was identified in 2 affected sisters from a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, who had no detectable chromosomal aberration, Shamseldin et al. (2012).

A heterozygosity missense mutation (Q186H) was identified in a 31-year-old Chinese woman with SHFM, Wang et al. (2014).
A heterozygosity nonsense mutationIn (E39X) was identified in the probands from 2 unrelated Polish families with isolated SHFM, Sowinska-Seidler et al. (2014).

Animal model evidence - mouse

Green for mono-allelic, Amber for bi-allelic.
Mendeliome v0.10633 DLX5 Zornitza Stark reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600, Split-hand/foot malformation 1 MIM#183600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2289 DLX5 Zornitza Stark Marked gene: DLX5 as ready
Fetal anomalies v0.2289 DLX5 Zornitza Stark Gene: dlx5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2289 DLX5 Zornitza Stark Phenotypes for gene: DLX5 were changed from ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600 to Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600; Split-hand/foot malformation 1 MIM#183600
Fetal anomalies v0.2288 DLX5 Zornitza Stark Publications for gene: DLX5 were set to
Fetal anomalies v0.2287 DLX5 Zornitza Stark Classified gene: DLX5 as Green List (high evidence)
Fetal anomalies v0.2287 DLX5 Zornitza Stark Gene: dlx5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2286 DLG4 Zornitza Stark Marked gene: DLG4 as ready
Fetal anomalies v0.2286 DLG4 Zornitza Stark Added comment: Comment when marking as ready: Clinical presentation is post-natal.
Fetal anomalies v0.2286 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2286 DLG4 Zornitza Stark Classified gene: DLG4 as Red List (low evidence)
Fetal anomalies v0.2286 DLG4 Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2285 DLG4 Zornitza Stark Mode of inheritance for gene: DLG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2284 DLG4 Zornitza Stark Publications for gene: DLG4 were set to
Fetal anomalies v0.2283 DLG4 Zornitza Stark Phenotypes for gene: DLG4 were changed from DLG4 related intellectual disability to Intellectual developmental disorder 62, MIM# 618793
Fetal anomalies v0.2282 DLG4 Zornitza Stark edited their review of gene: DLG4: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.4437 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296
Intellectual disability syndromic and non-syndromic v0.4436 DISP1 Zornitza Stark Mode of inheritance for gene: DISP1 was changed from Unknown to Other
Mendeliome v0.10633 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296
Holoprosencephaly and septo-optic dysplasia v1.3 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296
Fetal anomalies v0.2282 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296
Fetal anomalies v0.2281 DISP1 Zornitza Stark Marked gene: DISP1 as ready
Fetal anomalies v0.2281 DISP1 Zornitza Stark Gene: disp1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2281 DISP1 Zornitza Stark Publications for gene: DISP1 were set to 27363716
Fetal anomalies v0.2280 DISP1 Zornitza Stark Mode of inheritance for gene: DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Fetal anomalies v0.2279 DISP1 Zornitza Stark Classified gene: DISP1 as Red List (low evidence)
Fetal anomalies v0.2279 DISP1 Zornitza Stark Gene: disp1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2278 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Fetal anomalies v0.2278 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2278 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Seizures, cortical blindness, microcephaly syndrome, 616632 to Seizures, cortical blindness, microcephaly syndrome, MIM#616632
Fetal anomalies v0.2277 DIAPH1 Zornitza Stark Publications for gene: DIAPH1 were set to
Fetal anomalies v0.2276 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Green List (high evidence)
Fetal anomalies v0.2276 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2275 DHX30 Zornitza Stark Marked gene: DHX30 as ready
Fetal anomalies v0.2275 DHX30 Zornitza Stark Gene: dhx30 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2275 DHX30 Zornitza Stark Phenotypes for gene: DHX30 were changed from Neurodevelopmental Disorder to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804
Fetal anomalies v0.2274 DHX30 Zornitza Stark Publications for gene: DHX30 were set to
Fetal anomalies v0.2273 DHX30 Zornitza Stark Mode of inheritance for gene: DHX30 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2272 DHX30 Zornitza Stark Classified gene: DHX30 as Red List (low evidence)
Fetal anomalies v0.2272 DHX30 Zornitza Stark Gene: dhx30 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2271 DHX30 Zornitza Stark changed review comment from: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).

Post-natal onset.; to: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).

Post-natal presentation.
Fetal anomalies v0.2271 DHX30 Zornitza Stark changed review comment from: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).; to: Twelve unrelated individuals reported with de novo missense variants, some recurrent. Missense cluster within nucleic acid binding motifs (~p.457-p.787).

Post-natal onset.
Fetal anomalies v0.2271 DHX30 Zornitza Stark edited their review of gene: DHX30: Changed rating: RED
Fetal anomalies v0.2271 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Fetal anomalies v0.2271 DHDDS Zornitza Stark Gene: dhdds has been classified as Red List (Low Evidence).
Fetal anomalies v0.2271 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from Epilepsy and intellectual disability to Developmental delay and seizures with or without movement abnormalities, MIM#617836
Fetal anomalies v0.2270 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Fetal anomalies v0.2269 DHDDS Zornitza Stark Mode of inheritance for gene: DHDDS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2268 DHDDS Zornitza Stark Classified gene: DHDDS as Red List (low evidence)
Fetal anomalies v0.2268 DHDDS Zornitza Stark Gene: dhdds has been classified as Red List (Low Evidence).
Fetal anomalies v0.2267 DHDDS Zornitza Stark changed review comment from: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype.
Sources: Expert list; to: Five unrelated individuals reported with mono-allelic variants and a neurodevelopmental phenotype. However, presentation is post-natal.
Sources: Expert list
Fetal anomalies v0.2267 DHDDS Zornitza Stark edited their review of gene: DHDDS: Changed rating: RED
Fetal anomalies v0.2267 DENND5A Zornitza Stark Marked gene: DENND5A as ready
Fetal anomalies v0.2267 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Fetal anomalies v0.2267 DENND5A Zornitza Stark Publications for gene: DENND5A were set to
Fetal anomalies v0.2266 DENND5A Zornitza Stark Classified gene: DENND5A as Green List (high evidence)
Fetal anomalies v0.2266 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Fetal anomalies v0.2265 DDX6 Zornitza Stark Marked gene: DDX6 as ready
Fetal anomalies v0.2265 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2265 DDX6 Zornitza Stark Phenotypes for gene: DDX6 were changed from INTELLECTUAL DISABILITY to Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653
Fetal anomalies v0.2264 DDX6 Zornitza Stark Publications for gene: DDX6 were set to
Fetal anomalies v0.2263 DDX6 Zornitza Stark Mode of inheritance for gene: DDX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2262 DDX6 Zornitza Stark Classified gene: DDX6 as Green List (high evidence)
Fetal anomalies v0.2262 DDX6 Zornitza Stark Gene: ddx6 has been classified as Green List (High Evidence).
Fetal anomalies v0.2261 DDX6 Zornitza Stark changed review comment from: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.
Sources: Literature; to: Five unrelated individuals reported with 5 different de novo heterozygous missense mutations in exon 11 of the DDX6 gene. All variants occurred at conserved residues in either the QxxR or V motifs within the second RecA-2 domain of the helicase core; this region is involved in RNA and/or ATP binding, suggesting functional consequences.

Multiple congenital anomalies.

Sources: Literature
Fetal anomalies v0.2261 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Fetal anomalies v0.2261 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Fetal anomalies v0.2261 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Fetal anomalies v0.2260 DDX59 Zornitza Stark Classified gene: DDX59 as Green List (high evidence)
Fetal anomalies v0.2260 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Fetal anomalies v0.2259 DDX59 Zornitza Stark changed review comment from: 5 unrelated families reported, renal involvement is not prominent.; to: 5 unrelated families reported, multiple congenital anomalies.
Fetal anomalies v0.2259 DDX59 Zornitza Stark edited their review of gene: DDX59: Changed rating: GREEN
Fetal anomalies v0.2259 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Fetal anomalies v0.2259 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2259 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from HYDROLETHALUS SYNDROME TYPE 1 to Hydrolethalus syndrome (MIM#236680); Ciliopathy
Fetal anomalies v0.2258 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Fetal anomalies v0.2257 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Fetal anomalies v0.2257 HYLS1 Zornitza Stark changed review comment from: A recurring homozygous missense variant p.Asp211Gly has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human and patient cells have shown mislocalisation of the protein to the nucleus (PMID: 15843405, PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774). 2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932). No other variants have been reported as pathogenic in this gene. Amber rating given only single founder variant reported with a hydrocephalus phenotype with supporting functional data from multiple animal models indicative of ciliopathy.; to: A recurring homozygous missense variant p.Asp211Gly has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human and patient cells have shown mislocalisation of the protein to the nucleus (PMID: 15843405, PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774). 2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932). No other variants have been reported as pathogenic in this gene.

Overall, sufficient evidence that variants in this gene cause a ciliopathy.
Fetal anomalies v0.2257 HYLS1 Zornitza Stark edited their review of gene: HYLS1: Changed phenotypes: Hydrolethalus syndrome (MIM#236680), Ciliopathy
Fetal anomalies v0.2257 HYLS1 Zornitza Stark edited their review of gene: HYLS1: Changed rating: GREEN
Fetal anomalies v0.2257 HUWE1 Zornitza Stark Marked gene: HUWE1 as ready
Fetal anomalies v0.2257 HUWE1 Zornitza Stark Gene: huwe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2257 HUWE1 Zornitza Stark Phenotypes for gene: HUWE1 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE to Mental retardation, X-linked syndromic, Turner type, MIM#309590
Fetal anomalies v0.2256 HUWE1 Zornitza Stark Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.2255 HUWE1 Zornitza Stark changed review comment from: Females variably affected, ranging from asymptomatic carriers to fully manifesting the condition (particularly with de novo variants).; to: IUGR, joint contractures, microcephaly/macrocephaly are features.
Fetal anomalies v0.2255 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Fetal anomalies v0.2255 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2255 HSPG2 Zornitza Stark changed review comment from: ID reported in ~25% of affected individuals.; to: Multiple congenital anomalies are a feature of both conditions.
Fetal anomalies v0.2255 HSPG2 Zornitza Stark edited their review of gene: HSPG2: Changed phenotypes: Schwartz-Jampel syndrome, type 1, MIM#255800, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410
Fetal anomalies v0.2255 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Fetal anomalies v0.2255 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2255 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from PERRAULT SYNDROME; D-BIFUNCTIONAL PROTEIN DEFICIENCY to D-bifunctional protein deficiency, AR (MIM#261515)
Fetal anomalies v0.2254 HSD17B4 Zornitza Stark Publications for gene: HSD17B4 were set to
Fetal anomalies v0.2253 HSD17B4 Zornitza Stark edited their review of gene: HSD17B4: Changed phenotypes: D-bifunctional protein deficiency, AR (MIM#261515)
Fetal anomalies v0.2253 HSD17B4 Zornitza Stark changed review comment from: DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.; to: DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome.

Cortical dysplasia, renal cysts are reported features.
Fetal anomalies v0.2253 HRAS Zornitza Stark Marked gene: HRAS as ready
Fetal anomalies v0.2253 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Fetal anomalies v0.2253 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES; COSTELLO SYNDROME to Costello syndrome, MIM# 218040
Fetal anomalies v0.2252 HRAS Zornitza Stark Publications for gene: HRAS were set to 28425981
Fetal anomalies v0.2251 HRAS Zornitza Stark Mode of pathogenicity for gene: HRAS 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 v0.2250 HRAS Zornitza Stark Mode of inheritance for gene: HRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2249 HRAS Zornitza Stark changed review comment from: Well established gene-disease association, over 100 affected individuals reported with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood.; to: Well established gene-disease association, over 100 affected individuals reported with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability.
Fetal anomalies v0.2249 HOXA13 Zornitza Stark Marked gene: HOXA13 as ready
Fetal anomalies v0.2249 HOXA13 Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence).
Fetal anomalies v0.2249 HOXA13 Zornitza Stark Phenotypes for gene: HOXA13 were changed from HAND-FOOT-GENITAL SYNDROME to Hand-foot-uterus syndrome, MIM# 140000
Fetal anomalies v0.2248 HOXA13 Zornitza Stark Mode of inheritance for gene: HOXA13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2247 HIVEP2 Zornitza Stark Marked gene: HIVEP2 as ready
Fetal anomalies v0.2247 HIVEP2 Zornitza Stark Gene: hivep2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2247 HIVEP2 Zornitza Stark Phenotypes for gene: HIVEP2 were changed from HIVEP2 associated syndromic developmental delay with intellectual disability to Mental retardation, autosomal dominant 43, MIM# 616977
Fetal anomalies v0.2246 HIVEP2 Zornitza Stark Publications for gene: HIVEP2 were set to
Fetal anomalies v0.2245 HIVEP2 Zornitza Stark Mode of inheritance for gene: HIVEP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2244 HIVEP2 Zornitza Stark changed review comment from: More than 10 unrelated individuals reported, most variants are LOF, supportive mouse model.; to: More than 10 unrelated individuals reported, most variants are LOF, supportive mouse model.

Microcephaly and CC abnormalities reported in some.
Fetal anomalies v0.2244 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Fetal anomalies v0.2244 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Fetal anomalies v0.2244 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from WILSON-TURNER SYNDROME; CORNELIA DE LANGE-LIKE SYNDROME to Cornelia de Lange syndrome 5, MIM# 300882
Fetal anomalies v0.2243 HDAC8 Zornitza Stark Publications for gene: HDAC8 were set to
Fetal anomalies v0.2242 HDAC8 Zornitza Stark edited their review of gene: HDAC8: Changed rating: GREEN
Fetal anomalies v0.2242 HDAC8 Zornitza Stark changed review comment from: In a recent series of 246 individuals from diverse populations, congenital diaphragmatic hernia was not a common feature of HDAC8-related CdL.; to: Multiple congenital anomalies are a feature.
Fetal anomalies v0.2242 HCFC1 Zornitza Stark Marked gene: HCFC1 as ready
Fetal anomalies v0.2242 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2242 HCFC1 Zornitza Stark Phenotypes for gene: HCFC1 were changed from COBALAMIN DISORDER; MENTAL RETARDATION, X-LINKED 3 to Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541
Fetal anomalies v0.2241 HCFC1 Zornitza Stark Publications for gene: HCFC1 were set to
Fetal anomalies v0.2240 HCFC1 Zornitza Stark changed review comment from: Variants in the HCFC1 gene are associated with cases of syndromic and non-syndromic intellectual disability. Individuals present with severely delayed psychomotor development apparent in infancy, and severe neurological involvement including intractable epilepsy, facial dysmorphism, and intellectual disability.; to: Variants in the HCFC1 gene are associated with cases of syndromic and non-syndromic intellectual disability. Individuals present with severely delayed psychomotor development apparent in infancy, and severe neurological involvement including intractable epilepsy, facial dysmorphism, and intellectual disability.

Microcephaly is a feature.
Fetal anomalies v0.2240 HCCS Zornitza Stark Marked gene: HCCS as ready
Fetal anomalies v0.2240 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Fetal anomalies v0.2240 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from MICROPHTHALMIA SYNDROMIC TYPE 7 to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Fetal anomalies v0.2239 HCCS Zornitza Stark changed review comment from: Diaphragmatic hernia is a recognised feature.; to: Multiple congenital anomalies.
Fetal anomalies v0.2239 SCUBE3 Chirag Patel Classified gene: SCUBE3 as Green List (high evidence)
Fetal anomalies v0.2239 SCUBE3 Chirag Patel Gene: scube3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2239 SCUBE3 Chirag Patel Classified gene: SCUBE3 as Green List (high evidence)
Fetal anomalies v0.2239 SCUBE3 Chirag Patel Gene: scube3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2238 SCUBE3 Chirag Patel reviewed gene: SCUBE3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33308444; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, OMIM # 619184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2238 SCYL1 Chirag Patel Classified gene: SCYL1 as Red List (low evidence)
Fetal anomalies v0.2238 SCYL1 Chirag Patel Gene: scyl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2237 SCYL1 Chirag Patel reviewed gene: SCYL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2237 SHANK2 Chirag Patel Classified gene: SHANK2 as Red List (low evidence)
Fetal anomalies v0.2237 SHANK2 Chirag Patel Gene: shank2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2236 SHANK2 Chirag Patel reviewed gene: SHANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2236 GUSB Zornitza Stark Marked gene: GUSB as ready
Fetal anomalies v0.2236 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Fetal anomalies v0.2236 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from MUCOPOLYSACCHARIDOSIS TYPE 7 to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Mendeliome v0.10632 GUCY2C Zornitza Stark Marked gene: GUCY2C as ready
Mendeliome v0.10632 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Green List (High Evidence).
Fetal anomalies v0.2235 SHROOM3 Chirag Patel reviewed gene: SHROOM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32621286; Phenotypes: Anencephaly, cleft lip and palate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10632 GUCY2C Zornitza Stark Phenotypes for gene: GUCY2C were changed from to Diarrhoea 6, MIM# 614616; Meconium ileus, MIM# 614665
Mendeliome v0.10631 GUCY2C Zornitza Stark Publications for gene: GUCY2C were set to
Mendeliome v0.10630 GUCY2C Zornitza Stark Mode of inheritance for gene: GUCY2C was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10629 GUCY2C Zornitza Stark reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 22436048, 25994218, 30353760, 28957388, 22521417, 33883099, 31079856; Phenotypes: Diarrhoea 6, MIM# 614616, Meconium ileus, MIM# 614665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4435 SIN3A Chirag Patel changed review comment from: 9 patients from 5 unrelated families reported with heterozygous truncating mutations in the SIN3A gene. Features include intellectual disability, ASD, seizures, dysmorphism, short stature, microcephaly, joint hypermotility, and small hands and feet. Brain imaging showed dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. Suitable for fetal anomalies panel.; to: 9 patients from 5 unrelated families reported with heterozygous truncating mutations in the SIN3A gene. Features include intellectual disability, ASD, seizures, dysmorphism, short stature, microcephaly, joint hypermotility, and small hands and feet. Brain imaging showed dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria.
Fetal anomalies v0.2235 SIN3A Chirag Patel Classified gene: SIN3A as Green List (high evidence)
Fetal anomalies v0.2235 SIN3A Chirag Patel Gene: sin3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4435 SIN3A Chirag Patel reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM # 613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2234 SIN3A Chirag Patel reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM # 613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2234 GUCY2C Zornitza Stark Marked gene: GUCY2C as ready
Fetal anomalies v0.2234 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Green List (High Evidence).
Fetal anomalies v0.2234 GUCY2C Zornitza Stark Phenotypes for gene: GUCY2C were changed from MECONIUM ILEUS; FAMILIAL DIARRHEA DIARRHEA 6 to Meconium ileus, MIM# 614665
Fetal anomalies v0.2233 GUCY2C Zornitza Stark Publications for gene: GUCY2C were set to
Fetal anomalies v0.2232 GUCY2C Zornitza Stark Mode of inheritance for gene: GUCY2C was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2231 GUCY2C Zornitza Stark reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 33883099, 31079856; Phenotypes: Meconium ileus, MIM# 614665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2231 SLC20A1 Chirag Patel Classified gene: SLC20A1 as Green List (high evidence)
Fetal anomalies v0.2231 SLC20A1 Chirag Patel Gene: slc20a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2230 SLC20A1 Chirag Patel reviewed gene: SLC20A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32850778, 27013921; Phenotypes: Bladder-Exstrophy-Epispadias Complex (BEEC) , no OMIM #; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2230 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Fetal anomalies v0.2230 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2230 GTF2H5 Zornitza Stark Phenotypes for gene: GTF2H5 were changed from TRICHOTHIODYSTROPHY PHOTOSENSITIVE to Trichothiodystrophy 3, photosensitive (MIM# 616395)
Fetal anomalies v0.2229 GTF2H5 Zornitza Stark Publications for gene: GTF2H5 were set to
Fetal anomalies v0.2228 GRIN2B Zornitza Stark Marked gene: GRIN2B as ready
Fetal anomalies v0.2228 GRIN2B Zornitza Stark Gene: grin2b has been classified as Green List (High Evidence).
Fetal anomalies v0.2228 GRIN2B Zornitza Stark Phenotypes for gene: GRIN2B were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; AUTISM; EPILEPTIC ENCEPHALOPATHY to Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139
Fetal anomalies v0.2227 GRIN2B Zornitza Stark Publications for gene: GRIN2B were set to
Fetal anomalies v0.2226 GRIN2B Zornitza Stark Mode of inheritance for gene: GRIN2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2225 SLC25A19 Chirag Patel Classified gene: SLC25A19 as Red List (low evidence)
Fetal anomalies v0.2225 SLC25A19 Chirag Patel Gene: slc25a19 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2224 GRIN1 Zornitza Stark Marked gene: GRIN1 as ready
Fetal anomalies v0.2224 GRIN1 Zornitza Stark Gene: grin1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2224 SLC25A19 Chirag Patel reviewed gene: SLC25A19: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12185364; Phenotypes: Microcephaly, Amish type, OMIM # 607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), OMIM #613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2224 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Fetal anomalies v0.2223 GRIN1 Zornitza Stark Publications for gene: GRIN1 were set to
Fetal anomalies v0.2222 GRIN1 Zornitza Stark Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2221 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Fetal anomalies v0.2221 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2221 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from CHUDLEY-MCCULLOUGH SYNDROME to Chudley-McCullough syndrome, MIM# 604213
Fetal anomalies v0.2220 GPSM2 Zornitza Stark Publications for gene: GPSM2 were set to
Mendeliome v0.10629 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Mendeliome v0.10629 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2219 GPI Zornitza Stark Marked gene: GPI as ready
Fetal anomalies v0.2219 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Fetal anomalies v0.2219 GPI Zornitza Stark Publications for gene: GPI were set to
Fetal anomalies v0.2218 SLC24A4 Chirag Patel Classified gene: SLC24A4 as Red List (low evidence)
Fetal anomalies v0.2218 SLC24A4 Chirag Patel Gene: slc24a4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2217 SLC24A4 Chirag Patel reviewed gene: SLC24A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2217 SMOC2 Chirag Patel Classified gene: SMOC2 as Red List (low evidence)
Fetal anomalies v0.2217 SMOC2 Chirag Patel Gene: smoc2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2216 SMOC2 Chirag Patel reviewed gene: SMOC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2216 SMS Chirag Patel Classified gene: SMS as Red List (low evidence)
Fetal anomalies v0.2216 SMS Chirag Patel Gene: sms has been classified as Red List (Low Evidence).
Fetal anomalies v0.2215 SMS Chirag Patel changed review comment from: Snyder-Robinson X-linked syndromic intellectual developmental disorder (MRXSSR) is an X-linked intellectual disability syndrome with characteristic features including facial asymmetry, marfanoid habitus, unsteady gait, thickened lower lip, nasal dysarthric speech, narrow or cleft palate, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia. Does not present antenatally/perinatally. Not suitable for fetal anomalies panel.; to: X-linked syndromic intellectual developmental disorder with characteristic features including dysmorphism, marfanoid habitus, unsteady gait, nasal dysarthric speech, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia. Does not present antenatally. Not suitable for fetal anomalies panel.
Fetal anomalies v0.2215 SMS Chirag Patel reviewed gene: SMS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2215 SRP54 Chirag Patel Classified gene: SRP54 as Red List (low evidence)
Fetal anomalies v0.2215 SRP54 Chirag Patel Gene: srp54 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2214 SRP54 Chirag Patel reviewed gene: SRP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2214 STX1B Chirag Patel Classified gene: STX1B as Red List (low evidence)
Fetal anomalies v0.2214 STX1B Chirag Patel Gene: stx1b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2213 STX1B Chirag Patel reviewed gene: STX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2213 SYN1 Chirag Patel Classified gene: SYN1 as Red List (low evidence)
Fetal anomalies v0.2213 SYN1 Chirag Patel Gene: syn1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2212 SYN1 Chirag Patel reviewed gene: SYN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2212 SZT2 Chirag Patel Classified gene: SZT2 as Green List (high evidence)
Fetal anomalies v0.2212 SZT2 Chirag Patel Gene: szt2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2211 SZT2 Chirag Patel reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2211 SPTAN1 Chirag Patel Classified gene: SPTAN1 as Red List (low evidence)
Fetal anomalies v0.2211 SPTAN1 Chirag Patel Gene: sptan1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2210 SPTAN1 Chirag Patel reviewed gene: SPTAN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10629 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Mendeliome v0.10628 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10627 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.2210 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Fetal anomalies v0.2210 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2210 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Fetal anomalies v0.2209 EXOC3L2 Chirag Patel Classified gene: EXOC3L2 as Green List (high evidence)
Fetal anomalies v0.2209 EXOC3L2 Chirag Patel Gene: exoc3l2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2208 EXOC3L2 Chirag Patel reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30327448, 34974531; Phenotypes: Dandy-Walker malformation, no OMIM #; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2208 GORAB Zornitza Stark Marked gene: GORAB as ready
Fetal anomalies v0.2208 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Fetal anomalies v0.2208 GORAB Zornitza Stark Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum to Geroderma osteodysplasticum MIM#231070
Fetal anomalies v0.2207 GORAB Zornitza Stark Publications for gene: GORAB were set to
Fetal anomalies v0.2206 EXPH5 Chirag Patel Classified gene: EXPH5 as Green List (high evidence)
Fetal anomalies v0.2206 EXPH5 Chirag Patel Gene: exph5 has been classified as Green List (High Evidence).
Fetal anomalies v0.2205 GORAB Zornitza Stark changed review comment from: Reviewed against assessment by GEL curation team: agree ID is not a predominant feature of this condition.; to: Joint laxity including hip dislocation; microcephaly reported.
Fetal anomalies v0.2205 EXPH5 Chirag Patel reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23176819, 32176379, 26211931, 27384765, 27730671; Phenotypes: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM #615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2205 GORAB Zornitza Stark Deleted their comment
Fetal anomalies v0.2205 GORAB Zornitza Stark edited their review of gene: GORAB: Changed rating: GREEN
Fetal anomalies v0.2205 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Fetal anomalies v0.2205 GNPTG Zornitza Stark Gene: gnptg has been classified as Red List (Low Evidence).
Fetal anomalies v0.2205 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C to Mucolipidosis III gamma, MIM# 252605; MONDO:0009652
Fetal anomalies v0.2204 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Fetal anomalies v0.2203 GNPTG Zornitza Stark Classified gene: GNPTG as Red List (low evidence)
Fetal anomalies v0.2203 GNPTG Zornitza Stark Gene: gnptg has been classified as Red List (Low Evidence).
Fetal anomalies v0.2202 ELMO2 Chirag Patel Classified gene: ELMO2 as Red List (low evidence)
Fetal anomalies v0.2202 ELMO2 Chirag Patel Gene: elmo2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2202 ELMO2 Chirag Patel Classified gene: ELMO2 as Red List (low evidence)
Fetal anomalies v0.2202 ELMO2 Chirag Patel Gene: elmo2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2201 ELMO2 Chirag Patel reviewed gene: ELMO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2201 GNPTG Zornitza Stark changed review comment from: Mucolipidosis type III gamma is characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. More than 20 unrelated families reported, mouse model.; to: Mucolipidosis type III gamma is characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. More than 20 unrelated families reported, mouse model.

Progressive metabolic disorder with childhood onset.
Fetal anomalies v0.2201 DCC Chirag Patel Classified gene: DCC as Green List (high evidence)
Fetal anomalies v0.2201 DCC Chirag Patel Gene: dcc has been classified as Green List (High Evidence).
Fetal anomalies v0.2200 GNPTG Zornitza Stark edited their review of gene: GNPTG: Changed rating: RED
Fetal anomalies v0.2200 DCC Chirag Patel reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20431009, 31697046, 21242494, 28250454, 28250456; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.2200 TAC3 Chirag Patel Classified gene: TAC3 as Red List (low evidence)
Fetal anomalies v0.2200 TAC3 Chirag Patel Gene: tac3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2199 TAC3 Chirag Patel reviewed gene: TAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2199 TNFRSF13B Chirag Patel Classified gene: TNFRSF13B as Red List (low evidence)
Fetal anomalies v0.2199 TNFRSF13B Chirag Patel Gene: tnfrsf13b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2199 TNFRSF13B Chirag Patel Classified gene: TNFRSF13B as Red List (low evidence)
Fetal anomalies v0.2199 TNFRSF13B Chirag Patel Gene: tnfrsf13b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2198 TNFRSF13B Chirag Patel reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2198 NXN Chirag Patel Classified gene: NXN as Green List (high evidence)
Fetal anomalies v0.2198 NXN Chirag Patel Gene: nxn has been classified as Green List (High Evidence).
Fetal anomalies v0.2197 NXN Chirag Patel reviewed gene: NXN: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 29276006, 32954672, 33048444; Phenotypes: Robinow syndrome, autosomal recessive 2, OMIM #618529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2197 SNX10 Chirag Patel Classified gene: SNX10 as Red List (low evidence)
Fetal anomalies v0.2197 SNX10 Chirag Patel Gene: snx10 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2196 SNX10 Chirag Patel reviewed gene: SNX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2196 SOX11 Chirag Patel Classified gene: SOX11 as Green List (high evidence)
Fetal anomalies v0.2196 SOX11 Chirag Patel Gene: sox11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4435 SOX11 Chirag Patel reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24886874, 33785884, 33430815, 33086258, 31530938; Phenotypes: Coffin-Siris syndrome 9, OMIM # 615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2195 SOX11 Chirag Patel Deleted their comment
Fetal anomalies v0.2195 SOX11 Chirag Patel edited their review of gene: SOX11: Added comment: Coffin-Siris syndrome is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails. sox11a/b knockdown in zebrafish causes brain abnormalities, potentially explaining the brain phenotype of CSS. Numerous cases reported with heterozygous mutations. Can present with IUGR antenatally. Suitable for fetal anomalies panel.; Changed publications: PubMed: 24886874, 33785884, 33430815, 33086258, 31530938
Fetal anomalies v0.2195 SOX11 Chirag Patel reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24886874, 33785884; Phenotypes: Coffin-Siris syndrome 9, OMIM # 615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2195 MEOX1 Chirag Patel Classified gene: MEOX1 as Green List (high evidence)
Fetal anomalies v0.2195 MEOX1 Chirag Patel Gene: meox1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.152 MEOX1 Chirag Patel reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24073994, 23290072; Phenotypes: Klippel-Feil syndrome 2, OMIM #214300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2194 MEOX1 Chirag Patel reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24073994, 23290072; Phenotypes: Klippel-Feil syndrome 2, OMIM #214300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2194 OTUD6B Chirag Patel Classified gene: OTUD6B as Green List (high evidence)
Fetal anomalies v0.2194 OTUD6B Chirag Patel Gene: otud6b has been classified as Green List (High Evidence).
Fetal anomalies v0.2193 OTUD6B Chirag Patel reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4435 OTUD6B Chirag Patel reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2193 SGCG Chirag Patel Classified gene: SGCG as Red List (low evidence)
Fetal anomalies v0.2193 SGCG Chirag Patel Gene: sgcg has been classified as Red List (Low Evidence).
Fetal anomalies v0.2192 SGCG Chirag Patel reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2192 SLC6A17 Chirag Patel Classified gene: SLC6A17 as Red List (low evidence)
Fetal anomalies v0.2192 SLC6A17 Chirag Patel Gene: slc6a17 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2191 SLC6A17 Chirag Patel reviewed gene: SLC6A17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2191 RAB33B Chirag Patel Classified gene: RAB33B as Red List (low evidence)
Fetal anomalies v0.2191 RAB33B Chirag Patel Gene: rab33b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2190 RAB33B Chirag Patel reviewed gene: RAB33B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2190 SERPINH1 Chirag Patel Classified gene: SERPINH1 as Red List (low evidence)
Fetal anomalies v0.2190 SERPINH1 Chirag Patel Gene: serpinh1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2189 SERPINH1 Chirag Patel reviewed gene: SERPINH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2189 SERPINF1 Chirag Patel Classified gene: SERPINF1 as Red List (low evidence)
Fetal anomalies v0.2189 SERPINF1 Chirag Patel Gene: serpinf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2188 SERPINF1 Chirag Patel Classified gene: SERPINF1 as Red List (low evidence)
Fetal anomalies v0.2188 SERPINF1 Chirag Patel Gene: serpinf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2188 SERPINF1 Chirag Patel Classified gene: SERPINF1 as Red List (low evidence)
Fetal anomalies v0.2188 SERPINF1 Chirag Patel Gene: serpinf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2187 SERPINF1 Chirag Patel reviewed gene: SERPINF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2187 TMEM38B Chirag Patel reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23316006, 23054245, 26911354, 34902613; Phenotypes: Osteogenesis imperfecta, type XIV , OMIM #615066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2187 POLR3A Chirag Patel Classified gene: POLR3A as Red List (low evidence)
Fetal anomalies v0.2187 POLR3A Chirag Patel Gene: polr3a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2186 POLR3A Chirag Patel reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2186 POLR3B Chirag Patel Classified gene: POLR3B as Red List (low evidence)
Fetal anomalies v0.2186 POLR3B Chirag Patel Gene: polr3b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2185 POLR3B Chirag Patel reviewed gene: POLR3B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2185 PYCR2 Chirag Patel Classified gene: PYCR2 as Red List (low evidence)
Fetal anomalies v0.2185 PYCR2 Chirag Patel Gene: pycr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2184 PYCR2 Chirag Patel reviewed gene: PYCR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2184 PITX1 Chirag Patel Classified gene: PITX1 as Green List (high evidence)
Fetal anomalies v0.2184 PITX1 Chirag Patel Gene: pitx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2183 PITX1 Chirag Patel reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 21775501, 22258522, 18950742; Phenotypes: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM #119800, Liebenberg syndrome , OMIM #186550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10627 ICAM1 Ain Roesley reviewed gene: ICAM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10627 IRAK3 Ain Roesley reviewed gene: IRAK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.2183 FEZF1 Chirag Patel Classified gene: FEZF1 as Red List (low evidence)
Fetal anomalies v0.2183 FEZF1 Chirag Patel Gene: fezf1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2182 FEZF1 Chirag Patel reviewed gene: FEZF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2182 NAXE Chirag Patel Classified gene: NAXE as Red List (low evidence)
Fetal anomalies v0.2182 NAXE Chirag Patel Gene: naxe has been classified as Red List (Low Evidence).
Fetal anomalies v0.2182 NAXE Chirag Patel Classified gene: NAXE as Red List (low evidence)
Fetal anomalies v0.2182 NAXE Chirag Patel Gene: naxe has been classified as Red List (Low Evidence).
Fetal anomalies v0.2181 NAXE Chirag Patel reviewed gene: NAXE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2181 TRMT10C Chirag Patel Classified gene: TRMT10C as Red List (low evidence)
Fetal anomalies v0.2181 TRMT10C Chirag Patel Gene: trmt10c has been classified as Red List (Low Evidence).
Fetal anomalies v0.2180 TRMT10C Chirag Patel reviewed gene: TRMT10C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2180 PBX1 Chirag Patel Classified gene: PBX1 as Green List (high evidence)
Fetal anomalies v0.2180 PBX1 Chirag Patel Gene: pbx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2179 PBX1 Chirag Patel reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28566479, 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 PBX1 Chirag Patel reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28566479, 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2179 PFKM Chirag Patel Classified gene: PFKM as Red List (low evidence)
Fetal anomalies v0.2179 PFKM Chirag Patel Gene: pfkm has been classified as Red List (Low Evidence).
Fetal anomalies v0.2178 PFKM Chirag Patel reviewed gene: PFKM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2178 TRPM7 Chirag Patel Classified gene: TRPM7 as Red List (low evidence)
Fetal anomalies v0.2178 TRPM7 Chirag Patel Gene: trpm7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2177 TRPM7 Chirag Patel reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2177 PTH Chirag Patel Classified gene: PTH as Red List (low evidence)
Fetal anomalies v0.2177 PTH Chirag Patel Gene: pth has been classified as Red List (Low Evidence).
Fetal anomalies v0.2176 PTH Chirag Patel reviewed gene: PTH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2176 SET Chirag Patel Classified gene: SET as Red List (low evidence)
Fetal anomalies v0.2176 SET Chirag Patel Gene: set has been classified as Red List (Low Evidence).
Fetal anomalies v0.2175 SET Chirag Patel reviewed gene: SET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10627 CAPN10 Ain Roesley reviewed gene: CAPN10: Rating: RED; Mode of pathogenicity: None; Publications: 31791003, 31292430; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.2175 Zornitza Stark removed gene:ZNF750 from the panel
Fetal anomalies v0.2174 Zornitza Stark removed gene:UVSSA from the panel
Fetal anomalies v0.2173 Zornitza Stark removed gene:USB1 from the panel
Fetal anomalies v0.2172 Zornitza Stark removed gene:UROS from the panel
Fetal anomalies v0.2171 Zornitza Stark removed gene:UGT1A1 from the panel
Fetal anomalies v0.2170 Zornitza Stark removed gene:TYRP1 from the panel
Fetal anomalies v0.2169 Zornitza Stark removed gene:TYR from the panel
Fetal anomalies v0.2168 Zornitza Stark removed gene:TSHR from the panel
Fetal anomalies v0.2167 Zornitza Stark removed gene:TSHB from the panel
Fetal anomalies v0.2166 Zornitza Stark removed gene:TRPM1 from the panel
Fetal anomalies v0.2165 Zornitza Stark removed gene:THAP1 from the panel
Fetal anomalies v0.2164 Zornitza Stark removed gene:TH from the panel
Fetal anomalies v0.2163 Zornitza Stark removed gene:TGM1 from the panel
Fetal anomalies v0.2162 Zornitza Stark removed gene:TAT from the panel
Fetal anomalies v0.2161 Zornitza Stark removed gene:TACR3 from the panel
Fetal anomalies v0.2160 Zornitza Stark removed gene:SULT2B1 from the panel
Fetal anomalies v0.2159 Zornitza Stark removed gene:STS from the panel
Fetal anomalies v0.2158 Zornitza Stark removed gene:STAT1 from the panel
Fetal anomalies v0.2157 Zornitza Stark removed gene:ST14 from the panel
Fetal anomalies v0.2156 Zornitza Stark removed gene:SPTLC2 from the panel
Fetal anomalies v0.2155 Zornitza Stark removed gene:SPRY4 from the panel
Fetal anomalies v0.2154 Zornitza Stark removed gene:SPR from the panel
Fetal anomalies v0.2153 Zornitza Stark removed gene:SLC6A5 from the panel
Fetal anomalies v0.2152 Zornitza Stark removed gene:SLC6A3 from the panel
Fetal anomalies v0.2151 Zornitza Stark removed gene:SLC6A1 from the panel
Fetal anomalies v0.2150 Zornitza Stark removed gene:SLC5A5 from the panel
Fetal anomalies v0.2149 Zornitza Stark removed gene:SLC4A11 from the panel
Fetal anomalies v0.2148 Zornitza Stark removed gene:SLC4A1 from the panel
Fetal anomalies v0.2147 Zornitza Stark removed gene:SLC25A22 from the panel
Fetal anomalies v0.2146 Zornitza Stark removed gene:SLC25A15 from the panel
Fetal anomalies v0.2145 Zornitza Stark removed gene:SDR9C7 from the panel
Fetal anomalies v0.2144 Zornitza Stark removed gene:SCN11A from the panel
Fetal anomalies v0.2143 Zornitza Stark removed gene:RTN4IP1 from the panel
Fetal anomalies v0.2142 Zornitza Stark removed gene:RSPO4 from the panel
Fetal anomalies v0.2141 Zornitza Stark removed gene:RPGRIP1 from the panel
Fetal anomalies v0.2140 Zornitza Stark removed gene:RPE65 from the panel
Fetal anomalies v0.2139 Zornitza Stark removed gene:RETREG1 from the panel
Fetal anomalies v0.2138 Zornitza Stark removed gene:PYGL from the panel
Fetal anomalies v0.2137 Zornitza Stark removed gene:QDPR from the panel
Fetal anomalies v0.2136 Zornitza Stark removed gene:PRX from the panel
Fetal anomalies v0.2135 Zornitza Stark removed gene:PROP1 from the panel
Fetal anomalies v0.2134 Zornitza Stark removed gene:PROKR2 from the panel
Fetal anomalies v0.2133 Zornitza Stark removed gene:PROK2 from the panel
Fetal anomalies v0.2132 Zornitza Stark removed gene:PRDM12 from the panel
Fetal anomalies v0.2131 Zornitza Stark removed gene:POC1B from the panel
Fetal anomalies v0.2130 Zornitza Stark removed gene:PNPT1 from the panel
Fetal anomalies v0.2129 Zornitza Stark removed gene:PNPLA1 from the panel
Fetal anomalies v0.2128 Zornitza Stark removed gene:PMS2 from the panel
Fetal anomalies v0.2127 Zornitza Stark removed gene:PMP22 from the panel
Fetal anomalies v0.2126 Zornitza Stark removed gene:PLCE1 from the panel
Fetal anomalies v0.2125 Zornitza Stark removed gene:PLA2G6 from the panel
Fetal anomalies v0.2124 Zornitza Stark removed gene:PGK1 from the panel
Fetal anomalies v0.2123 Zornitza Stark removed gene:PDE6G from the panel
Fetal anomalies v0.2122 Zornitza Stark removed gene:PCDH19 from the panel
Fetal anomalies v0.2121 Zornitza Stark removed gene:PCCB from the panel
Fetal anomalies v0.2120 Zornitza Stark removed gene:PCCA from the panel
Fetal anomalies v0.2119 Zornitza Stark removed gene:PCBD1 from the panel
Fetal anomalies v0.2118 Zornitza Stark removed gene:PC from the panel
Fetal anomalies v0.2117 Zornitza Stark removed gene:PAX9 from the panel
Fetal anomalies v0.2116 Zornitza Stark removed gene:PAH from the panel
Fetal anomalies v0.2115 Zornitza Stark removed gene:OXCT1 from the panel
Fetal anomalies v0.2114 Zornitza Stark removed gene:OTULIN from the panel
Fetal anomalies v0.2113 Zornitza Stark removed gene:OTOGL from the panel
Fetal anomalies v0.2112 Zornitza Stark removed gene:OTC from the panel
Fetal anomalies v0.2111 Zornitza Stark removed gene:NTRK1 from the panel
Fetal anomalies v0.2110 Zornitza Stark removed gene:NSMF from the panel
Fetal anomalies v0.2109 Zornitza Stark removed gene:NPHS2 from the panel
Fetal anomalies v0.2108 Zornitza Stark removed gene:NKX2-1 from the panel
Fetal anomalies v0.2107 Zornitza Stark removed gene:NMNAT1 from the panel
Fetal anomalies v0.2106 Zornitza Stark removed gene:NIPAL4 from the panel
Fetal anomalies v0.2105 Zornitza Stark removed gene:NAGS from the panel
Fetal anomalies v0.2104 Zornitza Stark removed gene:MTRR from the panel
Fetal anomalies v0.2103 Zornitza Stark removed gene:MTR from the panel
Fetal anomalies v0.2102 Zornitza Stark removed gene:MRE11 from the panel
Fetal anomalies v0.2101 Zornitza Stark removed gene:MICU1 from the panel
Fetal anomalies v0.2100 Zornitza Stark removed gene:MFSD8 from the panel
Fetal anomalies v0.2099 Zornitza Stark removed gene:MCEE from the panel
Fetal anomalies v0.2098 Zornitza Stark removed gene:MCCC2 from the panel
Fetal anomalies v0.2097 Zornitza Stark removed gene:MCCC1 from the panel
Fetal anomalies v0.2096 Zornitza Stark removed gene:MYO5B from the panel
Fetal anomalies v0.2095 Zornitza Stark removed gene:MYO7A from the panel
Fetal anomalies v0.2094 Zornitza Stark removed gene:MYH9 from the panel
Fetal anomalies v0.2093 Zornitza Stark removed gene:MUT from the panel
Fetal anomalies v0.2092 Zornitza Stark removed gene:MTHFR from the panel
Fetal anomalies v0.2091 Zornitza Stark removed gene:MT-TP from the panel
Fetal anomalies v0.2090 Zornitza Stark removed gene:MSH6 from the panel
Fetal anomalies v0.2089 Zornitza Stark removed gene:MSH2 from the panel
Fetal anomalies v0.2088 Zornitza Stark removed gene:MMADHC from the panel
Fetal anomalies v0.2087 Zornitza Stark removed gene:MMAB from the panel
Fetal anomalies v0.2086 Zornitza Stark removed gene:MMAA from the panel
Fetal anomalies v0.2085 Zornitza Stark removed gene:MLH1 from the panel
Fetal anomalies v0.2084 Zornitza Stark removed gene:MC2R from the panel
Fetal anomalies v0.2083 Zornitza Stark removed gene:LAMC2 from the panel
Fetal anomalies v0.2082 Zornitza Stark removed gene:KCNB1 from the panel
Fetal anomalies v0.2081 Zornitza Stark removed gene:KCNA2 from the panel
Fetal anomalies v0.2080 Zornitza Stark removed gene:IVD from the panel
Fetal anomalies v0.2079 Zornitza Stark removed gene:HSD3B7 from the panel
Fetal anomalies v0.2078 Zornitza Stark removed gene:HMGCS2 from the panel
Fetal anomalies v0.2077 Zornitza Stark removed gene:HMGCL from the panel
Fetal anomalies v0.2076 Zornitza Stark removed gene:HEXB from the panel
Fetal anomalies v0.2075 Zornitza Stark removed gene:HEXA from the panel
Fetal anomalies v0.2074 Zornitza Stark removed gene:HCN1 from the panel
Fetal anomalies v0.2073 PDE4D Zornitza Stark Marked gene: PDE4D as ready
Fetal anomalies v0.2073 PDE4D Zornitza Stark Gene: pde4d has been classified as Green List (High Evidence).
Fetal anomalies v0.2073 PDE4D Zornitza Stark Phenotypes for gene: PDE4D were changed from ACRODYSOSTOSIS to Acrodysostosis 2, with or without hormone resistance, MIM# 614613
Fetal anomalies v0.2072 PDE4D Zornitza Stark Mode of inheritance for gene: PDE4D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2071 PDE4D Zornitza Stark reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10627 PDCD10 Zornitza Stark Marked gene: PDCD10 as ready
Mendeliome v0.10627 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Green List (High Evidence).
Mendeliome v0.10627 PDCD10 Zornitza Stark Phenotypes for gene: PDCD10 were changed from to Cerebral cavernous malformations 3 MIM#603285
Mendeliome v0.10626 PDCD10 Zornitza Stark Publications for gene: PDCD10 were set to
Mendeliome v0.10625 PDCD10 Zornitza Stark Mode of inheritance for gene: PDCD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10624 PDCD10 Zornitza Stark reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30356112, 15543491; Phenotypes: Cerebral cavernous malformations 3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2071 PDCD10 Zornitza Stark edited their review of gene: PDCD10: Changed publications: 30356112, 15543491
Fetal anomalies v0.2071 PDCD10 Zornitza Stark Marked gene: PDCD10 as ready
Fetal anomalies v0.2071 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Green List (High Evidence).
Fetal anomalies v0.2071 PDCD10 Zornitza Stark Phenotypes for gene: PDCD10 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 to Cerebral cavernous malformations 3 MIM#603285
Fetal anomalies v0.2070 PDCD10 Zornitza Stark Mode of inheritance for gene: PDCD10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2069 PDCD10 Zornitza Stark reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations 3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2069 PCYT1A Zornitza Stark Marked gene: PCYT1A as ready
Fetal anomalies v0.2069 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2069 PCYT1A Zornitza Stark Phenotypes for gene: PCYT1A were changed from SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY to Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940
Fetal anomalies v0.2068 PCYT1A Zornitza Stark Classified gene: PCYT1A as Red List (low evidence)
Fetal anomalies v0.2068 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.2067 PCYT1A Zornitza Stark reviewed gene: PCYT1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2067 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Fetal anomalies v0.2067 LHX3 Zornitza Stark Gene: lhx3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2067 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 to Pituitary hormone deficiency, combined, 3 (MIM#221750)
Fetal anomalies v0.2066 LHX3 Zornitza Stark Publications for gene: LHX3 were set to
Fetal anomalies v0.2065 LHX3 Zornitza Stark Classified gene: LHX3 as Red List (low evidence)
Fetal anomalies v0.2065 LHX3 Zornitza Stark Gene: lhx3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2064 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3 (MIM#221750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10624 LGI4 Zornitza Stark Marked gene: LGI4 as ready
Mendeliome v0.10624 LGI4 Zornitza Stark Gene: lgi4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2064 LGI4 Zornitza Stark edited their review of gene: LGI4: Changed publications: 28318499, 34288120
Mendeliome v0.10624 LGI4 Zornitza Stark Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468
Mendeliome v0.10623 LGI4 Zornitza Stark Publications for gene: LGI4 were set to
Fetal anomalies v0.2064 LGI4 Zornitza Stark Publications for gene: LGI4 were set to
Mendeliome v0.10622 LGI4 Zornitza Stark Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10621 LGI4 Zornitza Stark reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28318499, 34288120; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2063 LGI4 Zornitza Stark Marked gene: LGI4 as ready
Fetal anomalies v0.2063 LGI4 Zornitza Stark Gene: lgi4 has been classified as Green List (High Evidence).
Fetal anomalies v0.2063 LGI4 Zornitza Stark Phenotypes for gene: LGI4 were changed from ARTHROGRYPOSIS MULTIPLEX CONGENITA to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468
Fetal anomalies v0.2062 LGI4 Zornitza Stark changed review comment from: Severe AMC, most affected individuals die in utero or in newborn period; unclear if ID is truly part of the phenotype.; to: Severe AMC, most affected individuals die in utero or in newborn period.
Fetal anomalies v0.2062 LGI4 Zornitza Stark edited their review of gene: LGI4: Changed rating: GREEN
Mendeliome v0.10621 LFNG Zornitza Stark Marked gene: LFNG as ready
Mendeliome v0.10621 LFNG Zornitza Stark Gene: lfng has been classified as Green List (High Evidence).
Mendeliome v0.10621 LFNG Zornitza Stark Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813
Mendeliome v0.10620 LFNG Zornitza Stark Publications for gene: LFNG were set to
Mendeliome v0.10619 LFNG Zornitza Stark Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10618 LFNG Zornitza Stark reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9690472, 16385447, 30531807, 9690473; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2062 LFNG Zornitza Stark Marked gene: LFNG as ready
Fetal anomalies v0.2062 LFNG Zornitza Stark Gene: lfng has been classified as Green List (High Evidence).
Fetal anomalies v0.2062 LFNG Zornitza Stark Phenotypes for gene: LFNG were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813
Fetal anomalies v0.2061 LFNG Zornitza Stark Publications for gene: LFNG were set to
Fetal anomalies v0.2060 LBR Zornitza Stark Marked gene: LBR as ready
Fetal anomalies v0.2060 LBR Zornitza Stark Gene: lbr has been classified as Green List (High Evidence).
Fetal anomalies v0.2060 LBR Zornitza Stark Phenotypes for gene: LBR were changed from HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA to Greenberg skeletal dysplasia, MIM#215140
Fetal anomalies v0.2059 LBR Zornitza Stark Publications for gene: LBR were set to
Fetal anomalies v0.2058 LARP7 Zornitza Stark Marked gene: LARP7 as ready
Fetal anomalies v0.2058 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Fetal anomalies v0.2058 LARP7 Zornitza Stark Phenotypes for gene: LARP7 were changed from ALAZAMI SYNDROME to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031
Fetal anomalies v0.2057 LARP7 Zornitza Stark Publications for gene: LARP7 were set to
Fetal anomalies v0.2056 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Fetal anomalies v0.2056 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2056 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
Fetal anomalies v0.2055 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Fetal anomalies v0.2054 LARGE1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Severe end of the spectrum has congenital anomalies.
Fetal anomalies v0.2054 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Fetal anomalies v0.2054 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2054 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from CONGENITAL MUSCULAR DYSTROPHY to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Fetal anomalies v0.2053 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Fetal anomalies v0.2052 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Fetal anomalies v0.2052 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2052 LAMA1 Zornitza Stark Phenotypes for gene: LAMA1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY to Poretti-Boltshauser syndrome, MIM# 615960
Fetal anomalies v0.2051 LAMA1 Zornitza Stark Publications for gene: LAMA1 were set to
Fetal anomalies v0.2050 LAMA1 Zornitza Stark changed review comment from: Four families with Poretti-Bolthauser syndrome identified in a cohort of 'unsolved' Joubert syndrome patients -- included due to phenotypic overlap.
Sources: Literature; to: Cerebellar abnormalities.

Four families with Poretti-Bolthauser syndrome identified in a cohort of 'unsolved' Joubert syndrome patients.

Sources: Literature
Fetal anomalies v0.2050 L1CAM Zornitza Stark Marked gene: L1CAM as ready
Fetal anomalies v0.2050 L1CAM Zornitza Stark Gene: l1cam has been classified as Green List (High Evidence).
Fetal anomalies v0.2050 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME; PARTIAL AGENESIS OF THE CORPUS CALLOSUM; HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS; SPASTIC PARAPLEGIA X-LINKED TYPE 1 to Hydrocephalus due to aqueductal stenosis, MIM# 307000
Fetal anomalies v0.2049 L1CAM Zornitza Stark Publications for gene: L1CAM were set to 30712878; 28425981
Fetal anomalies v0.2048 L1CAM Zornitza Stark changed review comment from: L1CAM conditions are typically associated with adducted thumb/lower limb spasticity. Single report identified of arthrogryposis.; to: Well established gene-disease association.
Fetal anomalies v0.2048 L1CAM Zornitza Stark edited their review of gene: L1CAM: Changed rating: GREEN
Fetal anomalies v0.2048 KYNU Zornitza Stark Marked gene: KYNU as ready
Fetal anomalies v0.2048 KYNU Zornitza Stark Gene: kynu has been classified as Green List (High Evidence).
Fetal anomalies v0.2048 KYNU Zornitza Stark Phenotypes for gene: KYNU were changed from Vertebral, cardiac, renal, and limb defects syndrome 2 617661 to Vertebral, cardiac, renal, and limb defects syndrome 2 , MIM#617661
Fetal anomalies v0.2047 KYNU Zornitza Stark changed review comment from: Not convinced ID is part of the phenotype.; to: Multiple congenital anomalies.
Fetal anomalies v0.2047 KYNU Zornitza Stark edited their review of gene: KYNU: Changed rating: GREEN; Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2047 KRAS Zornitza Stark Marked gene: KRAS as ready
Fetal anomalies v0.2047 KRAS Zornitza Stark Gene: kras has been classified as Green List (High Evidence).
Fetal anomalies v0.2047 KRAS Zornitza Stark Phenotypes for gene: KRAS were changed from NOONAN SYNDROME TYPE 3; CARDIOFACIOCUTANEOUS SYNDROME to Noonan syndrome 3, MIM# 609942; Cardiofaciocutaneous syndrome 2, MIM# 615278
Fetal anomalies v0.2046 KRAS Zornitza Stark Publications for gene: KRAS were set to
Fetal anomalies v0.2045 KRAS Zornitza Stark Mode of inheritance for gene: KRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2044 KRAS Zornitza Stark changed review comment from: Well established gene-disease association in individuals with Noonan syndrome, CFC and overlapping Noonan-CFC.; to: Well established gene-disease association in individuals with Noonan syndrome, CFC and overlapping Noonan-CFC.

Multiple congenital anomalies, esp cardiac; hydrops.
Fetal anomalies v0.2044 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Fetal anomalies v0.2044 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Fetal anomalies v0.2044 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from KABUKI SYNDROME to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome
Fetal anomalies v0.2043 KMT2D Zornitza Stark Publications for gene: KMT2D were set to
Fetal anomalies v0.2042 KMT2D Zornitza Stark Mode of inheritance for gene: KMT2D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2041 KMT2D Zornitza Stark changed review comment from: Rare reports of CDH in Kabuki syndrome, not a characteristic or common feature; however, 4 identified in this CDH cohort.; to: Multiple congenital anomalies syndrome.
Fetal anomalies v0.2041 KMT2C Zornitza Stark Marked gene: KMT2C as ready
Fetal anomalies v0.2041 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Fetal anomalies v0.2041 KMT2C Zornitza Stark Phenotypes for gene: KMT2C were changed from INTELLECTUAL DISABILITY; Kleefstra syndrome 2 617768 to Kleefstra syndrome 2, MIM#617768
Fetal anomalies v0.2040 KMT2C Zornitza Stark Mode of inheritance for gene: KMT2C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2039 KMT2C Zornitza Stark changed review comment from: Mostly PTCs, 2 missense reported in ClinVar but in silicos evidence only; to: Mostly PTCs, 2 missense reported in ClinVar but in silicos evidence only.

Multiple congenital anomalies syndrome.
Fetal anomalies v0.2039 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Fetal anomalies v0.2039 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Fetal anomalies v0.2039 KMT2A Zornitza Stark Phenotypes for gene: KMT2A were changed from Wiedemann-Steiner syndrome, OMIM:605130 to Wiedemann-Steiner syndrome, MIM# 605130
Fetal anomalies v0.2038 KMT2A Zornitza Stark Mode of inheritance for gene: KMT2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2037 KMT2A Zornitza Stark commented on gene: KMT2A: Multiple congenital anomalies syndrome.
Fetal anomalies v0.2037 SPARC Chirag Patel Classified gene: SPARC as Red List (low evidence)
Fetal anomalies v0.2037 SPARC Chirag Patel Gene: sparc has been classified as Red List (Low Evidence).
Fetal anomalies v0.2036 SPARC Chirag Patel reviewed gene: SPARC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2036 KLHL41 Zornitza Stark Marked gene: KLHL41 as ready
Fetal anomalies v0.2036 KLHL41 Zornitza Stark Gene: klhl41 has been classified as Green List (High Evidence).
Fetal anomalies v0.2036 KLHL41 Zornitza Stark Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 615731 to Nemaline myopathy 9, MIM# 615731
Fetal anomalies v0.2035 KLHL41 Zornitza Stark Publications for gene: KLHL41 were set to
Fetal anomalies v0.2034 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Fetal anomalies v0.2034 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Green List (High Evidence).
Fetal anomalies v0.2034 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Fetal anomalies v0.2033 KLHL40 Zornitza Stark Publications for gene: KLHL40 were set to
Fetal anomalies v0.2032 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Fetal anomalies v0.2032 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Fetal anomalies v0.2032 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; ACROCALLOSAL SYNDROME to Hydrolethalus syndrome 2, MIM# 614120; Acrocallosal syndrome
Fetal anomalies v0.2031 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Fetal anomalies v0.2031 SLC25A22 Chirag Patel Classified gene: SLC25A22 as Red List (low evidence)
Fetal anomalies v0.2031 SLC25A22 Chirag Patel Gene: slc25a22 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2030 KIF7 Zornitza Stark edited their review of gene: KIF7: Changed rating: GREEN
Fetal anomalies v0.2030 SLC25A22 Chirag Patel reviewed gene: SLC25A22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2030 KIF1BP Zornitza Stark Marked gene: KIF1BP as ready
Fetal anomalies v0.2030 KIF1BP Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence).
Fetal anomalies v0.2030 KIF1BP Zornitza Stark Phenotypes for gene: KIF1BP were changed from GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME to Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Fetal anomalies v0.2029 KIF1BP Zornitza Stark Publications for gene: KIF1BP were set to
Fetal anomalies v0.2028 KIF1BP Zornitza Stark changed review comment from: Comment when marking as ready: HGNC approved name KIFBP.; to: Comment when marking as ready: HGNC approved name KIFBP.

Multiple congenital anomalies syndrome.
Fetal anomalies v0.2028 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Fetal anomalies v0.2028 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Fetal anomalies v0.2028 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from NESCAV SYNDROME, 614255; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213 to NESCAV syndrome, MIM# 614255
Fetal anomalies v0.2027 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Fetal anomalies v0.2026 KIF1A Zornitza Stark Mode of inheritance for gene: KIF1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2025 MESD Chirag Patel Classified gene: MESD as Green List (high evidence)
Fetal anomalies v0.2025 MESD Chirag Patel Gene: mesd has been classified as Green List (High Evidence).
Fetal anomalies v0.2024 MESD Chirag Patel reviewed gene: MESD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2024 KIF1A Zornitza Stark edited their review of gene: KIF1A: Added comment: Brain abnormalities reported with the mono-allelic disorder.; Changed rating: GREEN; Changed phenotypes: NESCAV syndrome, MIM# 614255; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2024 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Fetal anomalies v0.2024 KIF11 Zornitza Stark Gene: kif11 has been classified as Green List (High Evidence).
Fetal anomalies v0.2024 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Fetal anomalies v0.2023 KIF11 Zornitza Stark Publications for gene: KIF11 were set to
Fetal anomalies v0.2022 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2021 SULT2B1 Chirag Patel Classified gene: SULT2B1 as Red List (low evidence)
Fetal anomalies v0.2021 SULT2B1 Chirag Patel Gene: sult2b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2020 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Fetal anomalies v0.2020 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Fetal anomalies v0.2020 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from JOUBERT SYNDROME to Joubert syndrome 23 616490; Short-rib thoracic dysplasia 14 with polydactyly 616546; Hydrolethalus
Fetal anomalies v0.2019 SULT2B1 Chirag Patel reviewed gene: SULT2B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2019 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Fetal anomalies v0.2018 KIAA0586 Zornitza Stark edited their review of gene: KIAA0586: Changed rating: GREEN
Fetal anomalies v0.2018 PNPLA1 Chirag Patel Classified gene: PNPLA1 as Red List (low evidence)
Fetal anomalies v0.2018 PNPLA1 Chirag Patel Gene: pnpla1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2017 PNPLA1 Chirag Patel reviewed gene: PNPLA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Epidermolysis bullosa v1.4 SLC39A7 Zornitza Stark Phenotypes for gene: SLC39A7 were changed from Absent B cells; Agammaglobulinemia; Early onset infections to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Absent B cells; Agammaglobulinemia; Early onset infections
Epidermolysis bullosa v1.3 SLC39A7 Zornitza Stark reviewed gene: SLC39A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia; Mode of inheritance: None
Predominantly Antibody Deficiency v0.94 SLC39A7 Zornitza Stark Phenotypes for gene: SLC39A7 were changed from Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Predominantly Antibody Deficiency v0.93 SLC39A7 Zornitza Stark edited their review of gene: SLC39A7: Changed phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia
Mendeliome v0.10618 SLC39A7 Zornitza Stark Phenotypes for gene: SLC39A7 were changed from Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Mendeliome v0.10617 SLC39A7 Zornitza Stark edited their review of gene: SLC39A7: Changed phenotypes: Agammaglobulinemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia
Fetal anomalies v0.2017 ALOXE3 Chirag Patel Classified gene: ALOXE3 as Red List (low evidence)
Fetal anomalies v0.2017 ALOXE3 Chirag Patel Gene: aloxe3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2016 ALOXE3 Chirag Patel reviewed gene: ALOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2016 ALOX12B Chirag Patel Classified gene: ALOX12B as Red List (low evidence)
Fetal anomalies v0.2016 ALOX12B Chirag Patel Gene: alox12b has been classified as Red List (Low Evidence).
Fetal anomalies v0.2015 ALOX12B Chirag Patel reviewed gene: ALOX12B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cardiomyopathy_Paediatric v0.120 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Cardiomyopathy_Paediatric v0.119 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Leukodystrophy - paediatric v0.241 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Leukodystrophy - paediatric v0.240 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Ataxia - paediatric v0.304 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Ataxia - paediatric v0.303 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Intellectual disability syndromic and non-syndromic v0.4435 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Intellectual disability syndromic and non-syndromic v0.4434 RNF220 Zornitza Stark reviewed gene: RNF220: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.111 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Deafness_IsolatedAndComplex v1.110 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Mendeliome v0.10617 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Fetal anomalies v0.2015 ST14 Chirag Patel Classified gene: ST14 as Red List (low evidence)
Fetal anomalies v0.2015 ST14 Chirag Patel Gene: st14 has been classified as Red List (Low Evidence).
Mendeliome v0.10616 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Fetal anomalies v0.2014 ST14 Chirag Patel reviewed gene: ST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2014 NIPAL4 Chirag Patel Classified gene: NIPAL4 as Red List (low evidence)
Fetal anomalies v0.2014 NIPAL4 Chirag Patel Gene: nipal4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2013 NIPAL4 Chirag Patel reviewed gene: NIPAL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2013 TGM1 Chirag Patel Classified gene: TGM1 as Red List (low evidence)
Fetal anomalies v0.2013 TGM1 Chirag Patel Gene: tgm1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2012 TGM1 Chirag Patel reviewed gene: TGM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2012 SDR9C7 Chirag Patel Classified gene: SDR9C7 as Red List (low evidence)
Fetal anomalies v0.2012 SDR9C7 Chirag Patel Gene: sdr9c7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2011 SDR9C7 Chirag Patel reviewed gene: SDR9C7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2011 NUAK2 Chirag Patel Classified gene: NUAK2 as Red List (low evidence)
Fetal anomalies v0.2011 NUAK2 Chirag Patel Gene: nuak2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2010 NUAK2 Chirag Patel reviewed gene: NUAK2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 32845958; Phenotypes: ?Anencephaly 2, OMIM #619452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2010 FZD2 Chirag Patel Classified gene: FZD2 as Green List (high evidence)
Fetal anomalies v0.2010 FZD2 Chirag Patel Gene: fzd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.2009 FZD2 Chirag Patel reviewed gene: FZD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25759469, 30455931, 29383834, 29230162,; Phenotypes: Omodysplasia 2, OMIM #164745; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2009 TRPV3 Chirag Patel Classified gene: TRPV3 as Red List (low evidence)
Fetal anomalies v0.2009 TRPV3 Chirag Patel Gene: trpv3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2009 TRPV3 Chirag Patel Classified gene: TRPV3 as Red List (low evidence)
Fetal anomalies v0.2009 TRPV3 Chirag Patel Gene: trpv3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2008 TRPV3 Chirag Patel reviewed gene: TRPV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2008 TACR3 Chirag Patel Classified gene: TACR3 as Red List (low evidence)
Fetal anomalies v0.2008 TACR3 Chirag Patel Gene: tacr3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2007 TACR3 Chirag Patel reviewed gene: TACR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2007 TSFM Chirag Patel reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2007 TSFM Chirag Patel Deleted their review
Fetal anomalies v0.2007 TSFM Chirag Patel Classified gene: TSFM as Green List (high evidence)
Fetal anomalies v0.2007 TSFM Chirag Patel Gene: tsfm has been classified as Green List (High Evidence).
Fetal anomalies v0.2006 TSFM Chirag Patel changed review comment from: Combined oxidative phosphorylation deficiency-3 not presenting antenatally. Not suitable for fetal anomalies panel.; to: Combined oxidative phosphorylation deficiency-3 can present with paucity of fetal movements, IUGR, and hypertrophic cardiomyopathy postnatally. Suitable for fetal anomalies panel.
Fetal anomalies v0.2006 TSFM Chirag Patel Classified gene: TSFM as Red List (low evidence)
Fetal anomalies v0.2006 TSFM Chirag Patel Gene: tsfm has been classified as Red List (Low Evidence).
Fetal anomalies v0.2005 TSFM Chirag Patel reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2005 TUBB3 Chirag Patel Classified gene: TUBB3 as Green List (high evidence)
Fetal anomalies v0.2005 TUBB3 Chirag Patel Gene: tubb3 has been classified as Green List (High Evidence).
Fetal anomalies v0.2004 TUBB3 Chirag Patel reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20829227, 25059107, 32169460, 30272120; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, OMIM # 614039, Fibrosis of extraocular muscles, congenital, 3A, OMIM # 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2004 TUBG1 Chirag Patel Classified gene: TUBG1 as Green List (high evidence)
Fetal anomalies v0.2004 TUBG1 Chirag Patel Gene: tubg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2003 TUBG1 Chirag Patel reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23603762, 29706637, 33728335; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.2003 VDR Chirag Patel Classified gene: VDR as Red List (low evidence)
Fetal anomalies v0.2003 VDR Chirag Patel Gene: vdr has been classified as Red List (Low Evidence).
Fetal anomalies v0.2002 VDR Chirag Patel reviewed gene: VDR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2002 VEGFC Chirag Patel changed review comment from: Primary lymphoedema not presenting antenatally. Not suitable for fetal anomalies panel.; to: Primary lymphoedema not presenting antenatally. Not suitable for fetal anomalies panel.
Fetal anomalies v0.2002 VEGFC Chirag Patel Classified gene: VEGFC as Red List (low evidence)
Fetal anomalies v0.2002 VEGFC Chirag Patel Gene: vegfc has been classified as Red List (Low Evidence).
Fetal anomalies v0.2001 VEGFC Chirag Patel reviewed gene: VEGFC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.2001 WNT3 Chirag Patel Classified gene: WNT3 as Red List (low evidence)
Fetal anomalies v0.2001 WNT3 Chirag Patel Gene: wnt3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2000 WNT3 Chirag Patel reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 14872406; Phenotypes: ?Tetra-amelia syndrome 1, OMIM #273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.2000 ZNF462 Chirag Patel changed review comment from: Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome.; to: Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome.
Suitable for fetal anomalies panel.
Fetal anomalies v0.2000 ZNF462 Chirag Patel Classified gene: ZNF462 as Green List (high evidence)
Fetal anomalies v0.2000 ZNF462 Chirag Patel Gene: znf462 has been classified as Green List (High Evidence).
Fetal anomalies v0.1999 ZNF462 Chirag Patel commented on gene: ZNF462: Dysgenesis of corpus callosum and structural heart defects reported as part of syndrome.
Fetal anomalies v0.1999 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Fetal anomalies v0.1999 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Fetal anomalies v0.1999 KDM6A Zornitza Stark Phenotypes for gene: KDM6A were changed from KABUKI SYNDROME 2 to Kabuki syndrome 2, MIM# 300867
Fetal anomalies v0.1998 KDM6A Zornitza Stark changed review comment from: Cannot find specific reports of CDH in association with variants in this gene.; to: Multiple congenital anomalies syndrome.
Fetal anomalies v0.1998 KDM6A Zornitza Stark edited their review of gene: KDM6A: Changed rating: GREEN
Fetal anomalies v0.1998 KDM5C Zornitza Stark Marked gene: KDM5C as ready
Fetal anomalies v0.1998 KDM5C Zornitza Stark Gene: kdm5c has been classified as Green List (High Evidence).
Fetal anomalies v0.1998 KDM5C Zornitza Stark Phenotypes for gene: KDM5C were changed from MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355
Fetal anomalies v0.1997 KDM5C Zornitza Stark Publications for gene: KDM5C were set to
Fetal anomalies v0.1996 KDM5C Zornitza Stark Mode of inheritance for gene: KDM5C was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1996 KDM5C Zornitza Stark Mode of inheritance for gene: KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1995 KDM5C Zornitza Stark changed review comment from: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.; to: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.

Micro and macrocephaly reported.
Fetal anomalies v0.1995 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Fetal anomalies v0.1995 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1995 KCNJ1 Zornitza Stark Phenotypes for gene: KCNJ1 were changed from Bartter syndrome 241200 to Bartter syndrome, type 2, MIM#241200
Fetal anomalies v0.1994 KCNJ1 Zornitza Stark changed review comment from: I am not convinced ID is an intrinsic part of the phenotype.; to: Can present with polyhydramnios.
Fetal anomalies v0.1994 KCNJ1 Zornitza Stark edited their review of gene: KCNJ1: Changed rating: GREEN
Fetal anomalies v0.1994 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Fetal anomalies v0.1994 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1994 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from CHROMOSOME 17Q21.31 MICRODELETION SYNDROME to Koolen-De Vries syndrome (MIM#610443)
Fetal anomalies v0.1993 KANSL1 Zornitza Stark Publications for gene: KANSL1 were set to
Fetal anomalies v0.1992 KANSL1 Zornitza Stark Mode of inheritance for gene: KANSL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1991 KANSL1 Zornitza Stark changed review comment from: Well established gene-disease association, CNVs common.; to: Well established gene-disease association, CNVs common. Cardiac and GU abnormalities reported.
Fetal anomalies v0.1991 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Fetal anomalies v0.1991 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1991 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from ALAGILLE SYNDROME to Alagille syndrome 1, MIM#118450
Fetal anomalies v0.1990 JAG1 Zornitza Stark Mode of inheritance for gene: JAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1989 JAG1 Zornitza Stark changed review comment from: ID is not typically part of the phenotype.; to: Congenital heart disease is part of the phenotype.
Fetal anomalies v0.1989 JAG1 Zornitza Stark edited their review of gene: JAG1: Changed rating: GREEN
Mendeliome v0.10616 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Mendeliome v0.10616 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Mendeliome v0.10616 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Spastic paraplegia 42, autosomal dominant, MIM# 612539
Mendeliome v0.10615 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to
Mendeliome v0.10614 SLC33A1 Zornitza Stark Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10613 SLC33A1 Zornitza Stark reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315, 19061983, 20461110; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482, Spastic paraplegia 42, autosomal dominant, MIM# 612539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1989 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482 to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Intellectual disability syndromic and non-syndromic v0.4434 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Intellectual disability syndromic and non-syndromic v0.4434 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4434 TCTN1 Zornitza Stark Classified gene: TCTN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4434 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Green List (High Evidence).
Mendeliome v0.10613 ITPKC Zornitza Stark Marked gene: ITPKC as ready
Mendeliome v0.10613 ITPKC Zornitza Stark Gene: itpkc has been classified as Red List (Low Evidence).
Mendeliome v0.10613 ITPKC Zornitza Stark Publications for gene: ITPKC were set to
Mendeliome v0.10612 ITPKC Zornitza Stark Classified gene: ITPKC as Red List (low evidence)
Mendeliome v0.10612 ITPKC Zornitza Stark Gene: itpkc has been classified as Red List (Low Evidence).
Fetal anomalies v0.1988 MAMLD1 Zornitza Stark Marked gene: MAMLD1 as ready
Fetal anomalies v0.1988 MAMLD1 Zornitza Stark Gene: mamld1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1988 MAMLD1 Zornitza Stark Phenotypes for gene: MAMLD1 were changed from X-LINKED HYPOSPADIAS TYPE 2 to Hypospadias 2 (MIM#300758)
Fetal anomalies v0.1987 MAMLD1 Zornitza Stark Publications for gene: MAMLD1 were set to
Fetal anomalies v0.1986 MAMLD1 Zornitza Stark Classified gene: MAMLD1 as Green List (high evidence)
Fetal anomalies v0.1986 MAMLD1 Zornitza Stark Gene: mamld1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1985 MAMLD1 Zornitza Stark Deleted their comment
Fetal anomalies v0.1985 MAMLD1 Zornitza Stark commented on gene: MAMLD1: Multiple individuals reported with hypospadias PMID: 26815876: 3’UTR is associated with increased risk of isolated hypospadias in Indian children
Fetal anomalies v0.1985 MAMLD1 Zornitza Stark reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10611 MAMLD1 Zornitza Stark Marked gene: MAMLD1 as ready
Mendeliome v0.10611 MAMLD1 Zornitza Stark Gene: mamld1 has been classified as Green List (High Evidence).
Mendeliome v0.10611 MAMLD1 Zornitza Stark Phenotypes for gene: MAMLD1 were changed from to Hypospadias 2 (MIM#300758)
Mendeliome v0.10610 MAMLD1 Zornitza Stark Publications for gene: MAMLD1 were set to
Mendeliome v0.10609 MAMLD1 Zornitza Stark Mode of inheritance for gene: MAMLD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10608 MAMLD1 Zornitza Stark reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.237 MAMLD1 Zornitza Stark Marked gene: MAMLD1 as ready
Differences of Sex Development v0.237 MAMLD1 Zornitza Stark Gene: mamld1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.237 MAMLD1 Zornitza Stark Phenotypes for gene: MAMLD1 were changed from to Hypospadias 2 (MIM#300758)
Differences of Sex Development v0.236 MAMLD1 Zornitza Stark Publications for gene: MAMLD1 were set to
Differences of Sex Development v0.235 MAMLD1 Zornitza Stark Mode of inheritance for gene: MAMLD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1985 ITGA8 Zornitza Stark Marked gene: ITGA8 as ready
Fetal anomalies v0.1985 ITGA8 Zornitza Stark Gene: itga8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1985 ITGA8 Zornitza Stark Publications for gene: ITGA8 were set to 24439109
Fetal anomalies v0.1984 ITGA8 Zornitza Stark Classified gene: ITGA8 as Green List (high evidence)
Fetal anomalies v0.1984 ITGA8 Zornitza Stark Gene: itga8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1983 INPP5K Zornitza Stark Marked gene: INPP5K as ready
Fetal anomalies v0.1983 INPP5K Zornitza Stark Gene: inpp5k has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1983 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from Muscular dystrophy, congenital, with cataracts and intellectual disability to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Fetal anomalies v0.1982 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Fetal anomalies v0.1981 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Fetal anomalies v0.1981 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1981 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from DANON DISEASE to Danon disease (MIM#300257)
Fetal anomalies v0.1980 LAMP2 Zornitza Stark Publications for gene: LAMP2 were set to
Mendeliome v0.10608 INPP5K Zornitza Stark Marked gene: INPP5K as ready
Mendeliome v0.10608 INPP5K Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence).
Mendeliome v0.10608 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Mendeliome v0.10607 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Mendeliome v0.10606 INPP5K Zornitza Stark Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1979 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Fetal anomalies v0.1979 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1979 LAMB3 Zornitza Stark Publications for gene: LAMB3 were set to
Fetal anomalies v0.1978 LAMB3 Zornitza Stark reviewed gene: LAMB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, junctional, non-Herlitz type (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10605 IGFBP7 Zornitza Stark Marked gene: IGFBP7 as ready
Mendeliome v0.10605 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10605 IGFBP7 Zornitza Stark Phenotypes for gene: IGFBP7 were changed from to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224
Mendeliome v0.10604 IGFBP7 Zornitza Stark Publications for gene: IGFBP7 were set to
Mendeliome v0.10603 IGFBP7 Zornitza Stark Mode of inheritance for gene: IGFBP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10602 IGFBP7 Zornitza Stark Classified gene: IGFBP7 as Amber List (moderate evidence)
Mendeliome v0.10602 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10601 IGFBP7 Zornitza Stark Tag founder tag was added to gene: IGFBP7.
Mendeliome v0.10601 IGFBP7 Zornitza Stark reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1978 IGFBP7 Zornitza Stark Marked gene: IGFBP7 as ready
Fetal anomalies v0.1978 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1978 IGFBP7 Zornitza Stark Phenotypes for gene: IGFBP7 were changed from RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224
Fetal anomalies v0.1977 IGFBP7 Zornitza Stark Publications for gene: IGFBP7 were set to
Fetal anomalies v0.1976 IGFBP7 Zornitza Stark Classified gene: IGFBP7 as Red List (low evidence)
Fetal anomalies v0.1976 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1975 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Fetal anomalies v0.1975 LAMA3 Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1975 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional 226700 to Epidermolysis bullosa, junctional, Herlitz type (MIM#226700)
Fetal anomalies v0.1974 LAMA3 Zornitza Stark Publications for gene: LAMA3 were set to
Fetal anomalies v0.1973 LAMA3 Zornitza Stark reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, generalized atrophic benign (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1973 Zornitza Stark removed gene:KIT from the panel
Fetal anomalies v0.1972 NSD2 Zornitza Stark Marked gene: NSD2 as ready
Fetal anomalies v0.1972 NSD2 Zornitza Stark Gene: nsd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1972 NSD2 Zornitza Stark Classified gene: NSD2 as Green List (high evidence)