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Intellectual disability syndromic and non-syndromic v1.83 LINC01578 Zornitza Stark Tag non-coding gene tag was added to gene: LINC01578.
Mendeliome v1.2374 LINC01578 Zornitza Stark Tag non-coding gene tag was added to gene: LINC01578.
Susceptibility to Viral Infections v0.131 SNORA31 Zornitza Stark Tag non-coding gene tag was added to gene: SNORA31.
Defects of intrinsic and innate immunity v1.20 SNORA31 Zornitza Stark Marked gene: SNORA31 as ready
Defects of intrinsic and innate immunity v1.20 SNORA31 Zornitza Stark Gene: snora31 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.20 SNORA31 Zornitza Stark Tag non-coding gene tag was added to gene: SNORA31.
Mendeliome v1.2374 SNORA31 Zornitza Stark Tag non-coding gene tag was added to gene: SNORA31.
Deafness_Isolated v1.67 MIR96 Zornitza Stark Tag non-coding gene tag was added to gene: MIR96.
Deafness_IsolatedAndComplex v1.213 MIR96 Zornitza Stark Tag non-coding gene tag was added to gene: MIR96.
Mendeliome v1.2374 MIR96 Zornitza Stark Tag non-coding gene tag was added to gene: MIR96.
Mendeliome v1.2374 MIR936 Zornitza Stark Tag non-coding gene tag was added to gene: MIR936.
Mendeliome v1.2374 MIR5004 Zornitza Stark Tag non-coding gene tag was added to gene: MIR5004.
Cone-rod Dystrophy v0.54 MIR204 Zornitza Stark Tag non-coding gene tag was added to gene: MIR204.
Optic Atrophy v1.45 MIR204 Zornitza Stark Tag non-coding gene tag was added to gene: MIR204.
Mendeliome v1.2374 MIR204 Zornitza Stark Tag non-coding gene tag was added to gene: MIR204.
Mendeliome v1.2374 MIR184 Zornitza Stark Tag non-coding gene tag was added to gene: MIR184.
Cataract v0.373 MIR184 Zornitza Stark Tag non-coding gene tag was added to gene: MIR184.
Mendeliome v1.2374 MIR183 Zornitza Stark Tag non-coding gene tag was added to gene: MIR183.
Mendeliome v1.2374 MIR182 Zornitza Stark Tag non-coding gene tag was added to gene: MIR182.
Fetal anomalies v1.314 MIR17HG Zornitza Stark Tag non-coding gene tag was added to gene: MIR17HG.
Skeletal dysplasia v0.305 MIR17HG Zornitza Stark Tag non-coding gene tag was added to gene: MIR17HG.
Intellectual disability syndromic and non-syndromic v1.83 MIR17HG Zornitza Stark Tag non-coding gene tag was added to gene: MIR17HG.
Mendeliome v1.2374 MIR17HG Zornitza Stark Tag non-coding gene tag was added to gene: MIR17HG.
Gastrointestinal neuromuscular disease v1.24 MIR145 Zornitza Stark Tag non-coding gene tag was added to gene: MIR145.
Mendeliome v1.2374 MIR145 Zornitza Stark Tag non-coding gene tag was added to gene: MIR145.
Skeletal dysplasia v0.305 MIR140 Zornitza Stark Tag non-coding gene tag was added to gene: MIR140.
Mendeliome v1.2374 MIR140 Zornitza Stark Tag non-coding gene tag was added to gene: MIR140.
Fetal anomalies v1.314 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Prepair 1000+ v1.1586 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
BabyScreen+ newborn screening v1.116 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Hair disorders v0.71 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Metaphyseal dysplasias v0.5 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Ectodermal Dysplasia v0.89 RSPO4 Zornitza Stark Marked gene: RSPO4 as ready
Ectodermal Dysplasia v0.89 RSPO4 Zornitza Stark Gene: rspo4 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.89 RSPO4 Zornitza Stark Classified gene: RSPO4 as Green List (high evidence)
Ectodermal Dysplasia v0.89 RSPO4 Zornitza Stark Gene: rspo4 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.88 RMRP Zornitza Stark Marked gene: RMRP as ready
Ectodermal Dysplasia v0.88 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.88 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia to Cartilage hair hypoplasia (CHH) MIM#250250; Anauxetic dysplasia 1, MIM# 607095; Metaphyseal dysplasia without hypotrichosis, MIM# 250460
Ectodermal Dysplasia v0.87 RMRP Zornitza Stark Publications for gene: RMRP were set to
Ectodermal Dysplasia v0.86 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Skeletal dysplasia v0.305 RMRP Zornitza Stark Marked gene: RMRP as ready
Skeletal dysplasia v0.305 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Skeletal dysplasia v0.305 RMRP Zornitza Stark Publications for gene: RMRP were set to
Skeletal dysplasia v0.304 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Intellectual disability syndromic and non-syndromic v1.83 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Combined Immunodeficiency v1.115 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Mitochondrial disease v0.970 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Mendeliome v1.2374 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Bone Marrow Failure v1.114 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Skeletal Dysplasia_Fetal v0.230 RMRP Zornitza Stark Marked gene: RMRP as ready
Skeletal Dysplasia_Fetal v0.230 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.230 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from to Anauxetic dysplasia 1, MIM#607095
Skeletal Dysplasia_Fetal v0.229 RMRP Zornitza Stark Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.228 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
BabyScreen+ newborn screening v1.116 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
IBMDx study v0.35 TERC Zornitza Stark Marked gene: TERC as ready
IBMDx study v0.35 TERC Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
IBMDx study v0.35 TERC Zornitza Stark Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
IBMDx study v0.34 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.33 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Combined Immunodeficiency v1.115 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Pulmonary Fibrosis_Interstitial Lung Disease v0.87 TERC Zornitza Stark Marked gene: TERC as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.87 TERC Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.87 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Pulmonary Fibrosis_Interstitial Lung Disease v0.86 TERC Zornitza Stark Publications for gene: TERC were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.85 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.84 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Pulmonary Fibrosis_Interstitial Lung Disease v0.84 TERC Zornitza Stark edited their review of gene: TERC: Changed phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Mendeliome v1.2374 TERC Zornitza Stark Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Mendeliome v1.2373 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Mendeliome v1.2373 TERC Zornitza Stark edited their review of gene: TERC: Changed phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Bone Marrow Failure v1.114 TERC Zornitza Stark Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Bone Marrow Failure v1.113 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Bone Marrow Failure v1.113 TERC Zornitza Stark edited their review of gene: TERC: Changed phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Intellectual disability syndromic and non-syndromic v1.83 RNU2-2P Zornitza Stark Tag non-coding gene tag was added to gene: RNU2-2P.
Genetic Epilepsy v1.119 RNU2-2P Zornitza Stark Tag non-coding gene tag was added to gene: RNU2-2P.
Mendeliome v1.2373 RNU2-2P Zornitza Stark Tag non-coding gene tag was added to gene: RNU2-2P.
Prepair 1000+ v1.1586 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Fetal anomalies v1.314 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Leukodystrophy - adult onset v0.143 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Leukodystrophy - paediatric v0.318 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Dystonia - complex v0.272 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Intellectual disability syndromic and non-syndromic v1.83 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Genetic Epilepsy v1.119 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Mendeliome v1.2373 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Brain Calcification v1.99 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Hereditary Spastic Paraplegia - paediatric v1.87 RNU7-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU7-1.
Dystonia - complex v0.272 RNU7-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU7-1.
Intellectual disability syndromic and non-syndromic v1.83 RNU7-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU7-1.
Autoinflammatory Disorders v2.3 RNU7-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU7-1.
Regression v0.573 RNU7-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU7-1.
Mendeliome v1.2373 RNU7-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU7-1.
Cerebral Palsy v1.389 RNU7-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU7-1.
Brain Calcification v1.99 RNU7-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU7-1.
Fetal anomalies v1.314 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651 to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651
Fetal anomalies v1.313 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Mendeliome v1.2373 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960 to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Prepair 1000+ v1.1586 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Growth failure v1.76 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.29 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Syndromic Retinopathy v0.219 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Skeletal dysplasia v0.304 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Intellectual disability syndromic and non-syndromic v1.83 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Combined Immunodeficiency v1.115 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Callosome v0.540 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Genetic Epilepsy v1.119 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Microcephaly v1.301 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Mendeliome v1.2372 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Skeletal Dysplasia_Fetal v0.228 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Skeletal Dysplasia_Fetal v0.228 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.228 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651
Skeletal Dysplasia_Fetal v0.227 RNU4ATAC Zornitza Stark Mode of pathogenicity for gene: RNU4ATAC was changed from to Other
Skeletal Dysplasia_Fetal v0.226 RNU4ATAC Zornitza Stark Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.225 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Intellectual disability syndromic and non-syndromic v1.83 RNU4-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU4-2.
Mendeliome v1.2372 RNU4-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU4-2.
Fetal anomalies v1.313 RNU12 Zornitza Stark Tag non-coding gene tag was added to gene: RNU12.
Mendeliome v1.2372 RNU12 Zornitza Stark Tag non-coding gene tag was added to gene: RNU12.
Craniosynostosis v1.68 RNU12 Zornitza Stark Tag non-coding gene tag was added to gene: RNU12.
Intellectual disability syndromic and non-syndromic v1.83 DROSHA Zornitza Stark Tag non-coding gene tag was added to gene: DROSHA.
Genetic Epilepsy v1.119 DROSHA Zornitza Stark Tag non-coding gene tag was added to gene: DROSHA.
Microcephaly v1.301 DROSHA Zornitza Stark Tag non-coding gene tag was added to gene: DROSHA.
Mendeliome v1.2372 DROSHA Zornitza Stark Tag non-coding gene tag was added to gene: DROSHA.
Skeletal dysplasia v0.304 MEG3 Zornitza Stark Marked gene: MEG3 as ready
Skeletal dysplasia v0.304 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.304 MEG3 Zornitza Stark Classified gene: MEG3 as Green List (high evidence)
Skeletal dysplasia v0.304 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.303 MEG3 Zornitza Stark gene: MEG3 was added
gene: MEG3 was added to Skeletal dysplasia. Sources: Expert list
SV/CNV, non-coding gene tags were added to gene: MEG3.
Mode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313
Phenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149
Review for gene: MEG3 was set to GREEN
Added comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. Bell-shaped thorax and multiple other skeletal anomalies are a feature.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v1.83 MEG3 Zornitza Stark Marked gene: MEG3 as ready
Intellectual disability syndromic and non-syndromic v1.83 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.83 MEG3 Zornitza Stark Classified gene: MEG3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.83 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.82 MEG3 Zornitza Stark gene: MEG3 was added
gene: MEG3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313
Phenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149
Review for gene: MEG3 was set to GREEN
Added comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease.
Sources: Expert list
Mendeliome v1.2372 MEG3 Zornitza Stark Marked gene: MEG3 as ready
Mendeliome v1.2372 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Mendeliome v1.2372 MEG3 Zornitza Stark Classified gene: MEG3 as Green List (high evidence)
Mendeliome v1.2372 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Mendeliome v1.2371 MEG3 Zornitza Stark gene: MEG3 was added
gene: MEG3 was added to Mendeliome. Sources: Literature
SV/CNV, non-coding gene tags were added to gene: MEG3.
Mode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313
Phenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149
Review for gene: MEG3 was set to GREEN
Added comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease.
Sources: Literature
Imprinting disorders v1.5 MEG3 Zornitza Stark Marked gene: MEG3 as ready
Imprinting disorders v1.5 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Imprinting disorders v1.5 MEG3 Zornitza Stark Tag SV/CNV tag was added to gene: MEG3.
Imprinting disorders v1.5 MEG3 Zornitza Stark Classified gene: MEG3 as Green List (high evidence)
Imprinting disorders v1.5 MEG3 Zornitza Stark Gene: meg3 has been classified as Green List (High Evidence).
Imprinting disorders v1.4 MEG3 Zornitza Stark gene: MEG3 was added
gene: MEG3 was added to Imprinting disorders. Sources: Expert list
non-coding gene tags were added to gene: MEG3.
Mode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313
Phenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149
Review for gene: MEG3 was set to GREEN
Added comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease.
Sources: Expert list
BabyScreen+ newborn screening v1.116 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Fetal anomalies v1.313 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Imprinting disorders v1.3 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Growth failure v1.76 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Additional findings_Paediatric v0.278 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Intellectual disability syndromic and non-syndromic v1.81 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Mendeliome v1.2370 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Mendeliome v1.2370 CFAP54 Zornitza Stark Classified gene: CFAP54 as Amber List (moderate evidence)
Mendeliome v1.2370 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2369 CFAP54 Zornitza Stark edited their review of gene: CFAP54: Added comment: PMID 37725231: three probands from two families with PCD, supportive mouse models x2.; Changed rating: AMBER; Changed publications: 26224312, 36593121, 37725231; Changed phenotypes: Spermatogenic failure 98, MIM# 621124, HCiliary dyskinesia, primary, 54, MIM# 621125
Ciliary Dyskinesia v1.47 CFAP54 Zornitza Stark Phenotypes for gene: CFAP54 were changed from Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation to Spermatogenic failure 98, MIM# 621124; Ciliary dyskinesia, primary, 54, MIM# 621125
Ciliary Dyskinesia v1.46 CFAP54 Zornitza Stark Publications for gene: CFAP54 were set to PMID: 26224312; 36593121
Ciliary Dyskinesia v1.45 CFAP54 Zornitza Stark Classified gene: CFAP54 as Amber List (moderate evidence)
Ciliary Dyskinesia v1.45 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v1.44 CFAP54 Zornitza Stark edited their review of gene: CFAP54: Added comment: PMID 37725231: three probands from two families with PCD, supportive mouse models x2.; Changed rating: AMBER; Changed publications: 36593121, 37725231; Changed phenotypes: Spermatogenic failure 98, MIM# 621124, Ciliary dyskinesia, primary, 54, MIM# 621125
Intellectual disability syndromic and non-syndromic v1.81 PPFIA3 Zornitza Stark Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122
Intellectual disability syndromic and non-syndromic v1.80 PPFIA3 Zornitza Stark edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122
Genetic Epilepsy v1.119 PPFIA3 Zornitza Stark Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122
Genetic Epilepsy v1.118 PPFIA3 Zornitza Stark edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122
Mendeliome v1.2369 PPFIA3 Zornitza Stark Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122
Mendeliome v1.2368 PPFIA3 Zornitza Stark edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122
Prepair 1000+ v1.1586 ZNF335 Lauren Thomas reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 38549403, 27540107, 29652087, 34982360; Phenotypes: Microcephaly 10, primary, autosomal recessive, MIM# 615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 XPNPEP3 Lauren Thomas reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20179356, 32660933; Phenotypes: Nephronophthisis-like nephropathy 1, MIM# 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 WDR73 Lauren Thomas 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
Prepair 1000+ v1.1586 VPS13B Lauren Thomas reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 37692084, 19533689, 29758347, 19006247; Phenotypes: Cohen syndrome, MIM# 216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 HEXA Lilian Downie Marked gene: HEXA as ready
Prepair 1000+ v1.1586 HEXA Lilian Downie Gene: hexa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1586 HEXA Lilian Downie Publications for gene: HEXA were set to
Prepair 1000+ v1.1585 HMGCS2 Lilian Downie Marked gene: HMGCS2 as ready
Prepair 1000+ v1.1585 HMGCS2 Lilian Downie Gene: hmgcs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1585 HMGCS2 Lilian Downie Publications for gene: HMGCS2 were set to
Prepair 1000+ v1.1584 HOGA1 Lilian Downie Publications for gene: HOGA1 were set to 31123811
Prepair 1000+ v1.1583 IGF1R Lilian Downie Marked gene: IGF1R as ready
Prepair 1000+ v1.1583 IGF1R Lilian Downie Gene: igf1r has been classified as Green List (High Evidence).
Prepair 1000+ v1.1583 IGF1R Lilian Downie Publications for gene: IGF1R were set to
Prepair 1000+ v1.1582 IQSEC2 Lilian Downie Marked gene: IQSEC2 as ready
Prepair 1000+ v1.1582 IQSEC2 Lilian Downie Gene: iqsec2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1582 IQSEC2 Lilian Downie Publications for gene: IQSEC2 were set to
Prepair 1000+ v1.1581 KDM5C Lilian Downie Marked gene: KDM5C as ready
Prepair 1000+ v1.1581 KDM5C Lilian Downie Gene: kdm5c has been classified as Green List (High Evidence).
Prepair 1000+ v1.1581 KDM5C Lilian Downie Publications for gene: KDM5C were set to
Prepair 1000+ v1.1580 L1CAM Lilian Downie Marked gene: L1CAM as ready
Prepair 1000+ v1.1580 L1CAM Lilian Downie Gene: l1cam has been classified as Green List (High Evidence).
Prepair 1000+ v1.1580 L1CAM Lilian Downie Phenotypes for gene: L1CAM were changed from MASA syndrome, 303350 (3) to MASA syndrome, MIM#303350; Hydrocephalus, congenital, X-linked, MIM#307000
Prepair 1000+ v1.1579 L1CAM Lilian Downie Publications for gene: L1CAM were set to
Prepair 1000+ v1.1578 LIFR Lilian Downie Marked gene: LIFR as ready
Prepair 1000+ v1.1578 LIFR Lilian Downie Gene: lifr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1578 LIFR Lilian Downie Publications for gene: LIFR were set to
Prepair 1000+ v1.1577 ITGA6 Lauren Rogers reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 IER3IP1 Lauren Rogers reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 HMGCL Lauren Rogers reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 HBB Lauren Rogers reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sickle cell anaemia, MIM# 603903; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 SAMD9 Andrew Coventry reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 37830462; Phenotypes: MIRAGE syndrome (MIM#617053), Monosomy 7 myelodysplasia and leukemia syndrome 2 (MIM#619041), Tumoral calcinosis, familial, normophosphatemic (MIM#610455); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 LIPA Lilian Downie Marked gene: LIPA as ready
Prepair 1000+ v1.1577 LIPA Lilian Downie Gene: lipa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1577 LIPA Lilian Downie Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease, 278000 (3) to Wolman disease, MIM#620151; Cholesteryl ester storage disease, MIM#278000
Prepair 1000+ v1.1576 HADHA Lauren Rogers reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency MIM#609016, Mitochondrial trifunctional protein deficiency 1 MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1576 LIPA Lilian Downie Publications for gene: LIPA were set to
Prepair 1000+ v1.1575 APC2 Lilian Downie Marked gene: APC2 as ready
Prepair 1000+ v1.1575 APC2 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green at review
Prepair 1000+ v1.1575 APC2 Lilian Downie Gene: apc2 has been removed from the panel.
Prepair 1000+ v1.1575 APC2 Lilian Downie Tag for review tag was added to gene: APC2.
Prepair 1000+ v1.1575 OXCT1 Lilian Downie Marked gene: OXCT1 as ready
Prepair 1000+ v1.1575 OXCT1 Lilian Downie Added comment: Comment when marking as ready: Green at review
Prepair 1000+ v1.1575 OXCT1 Lilian Downie Gene: oxct1 has been removed from the panel.
Prepair 1000+ v1.1575 OXCT1 Lilian Downie Phenotypes for gene: OXCT1 were changed from to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Prepair 1000+ v1.1574 OXCT1 Lilian Downie Publications for gene: OXCT1 were set to
Prepair 1000+ v1.1573 GNPTG Lauren Rogers reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764:19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1573 TMEM5 Lilian Downie Marked gene: TMEM5 as ready
Prepair 1000+ v1.1573 TMEM5 Lilian Downie Gene: tmem5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1573 TMEM5 Lilian Downie Publications for gene: TMEM5 were set to
Prepair 1000+ v1.1572 TNNT1 Lilian Downie Marked gene: TNNT1 as ready
Prepair 1000+ v1.1572 TNNT1 Lilian Downie Gene: tnnt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1572 TNNT1 Lilian Downie Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, 605355 (3) to Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355; Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386
Prepair 1000+ v1.1571 TNNT1 Lilian Downie Publications for gene: TNNT1 were set to
Prepair 1000+ v1.1570 UNC80 Lilian Downie Marked gene: UNC80 as ready
Prepair 1000+ v1.1570 UNC80 Lilian Downie Gene: unc80 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1570 UNC80 Lilian Downie Publications for gene: UNC80 were set to
Prepair 1000+ v1.1569 FLVCR2 Lilian Downie Marked gene: FLVCR2 as ready
Prepair 1000+ v1.1569 FLVCR2 Lilian Downie Gene: flvcr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1569 FLVCR2 Lilian Downie Publications for gene: FLVCR2 were set to
Prepair 1000+ v1.1568 DLAT Lilian Downie Marked gene: DLAT as ready
Prepair 1000+ v1.1568 DLAT Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.1568 DLAT Lilian Downie Gene: dlat has been removed from the panel.
Prepair 1000+ v1.1568 FLVCR2 Lauren Rogers reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DLAT Andrew Coventry gene: DLAT was added
gene: DLAT was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLAT were set to 34138529; 16049940; 20022530; 29093066
Phenotypes for gene: DLAT were set to Leigh syndrome MONDO:0009723; Pyruvate dehydrogenase E2 deficiency MIM#245348
Review for gene: DLAT was set to GREEN
Added comment: Clinical presentation is in infancy. Pyruvate dehydrogenase E2 deficiency is a mitochondrial disorder, mostly affects the brain and leads to decreased ATP production and energy deficit. Can manifest as a syndrome of neurologic signs (congenital microcephaly, hypotonia, epilepsy, and/or ataxia), brain impacts (dysgenesis of the corpus callosum, Leigh syndrome) and metabolic abnormalities (increased plasma pyruvate, lactic acidemia, and/or metabolic acidosis).
Biochemical function, expression data, and model systems available.

1-4% of total PDE2D cases are due to variants in DLAT - associated with phenotype w/survival into childhood/adulthood, milder than other genes involved with condition.

PMID: 16049940 - 2 unrelated patients with Episodic dystonia. Hypotonia and ataxia, being less prominent. Neuroradiological evidence of discrete lesions restricted to the globus pallidus,
Male patient 1 - dystonic movements of the facial muscles and of his hands and feet.Developmental delay (12 words at age 4). Treatment has improved condition.
Male patient 2 - presented at 11 months of age with episodic dystonia (up to 3hrs duration). 8 years of age, developmental delay, cannot walk.
PMID: 29093066 - 2 siblings (both homozygous for c.470T>G; p.Val157Gly). Male sibling reported with intellectual disability and exercise-induced gait abnormalities. IQ of 44 at 8 years of age. Female sibling noted to have global delays with intellectual disability.
PMID: 20022530 - two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency.

At least 6 cases, in 4 unrelated families as described in publications above. While reportedly milder than other presentations, appears severe presentation in absence of treatment. Other genes currently included: PDHA1, PDHB, PDP1.
Sources: Literature
Prepair 1000+ v1.1568 UNC80 Lauren Thomas reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708753, 26708751, 30167850, 30771478; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 TNNT1 Lauren Thomas reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26296490, 31604653, 10952871, 24689076; Phenotypes: Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355, Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 TMEM5 Lauren Thomas reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23519211, 23217329; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 OXCT1 Andrew Coventry reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30799594, 20652411, 25778941, 10964512, 8751852, 23420214; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 APC2 Andrew Coventry gene: APC2 was added
gene: APC2 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10 MIM#618677; Intellectual developmental disorder, autosomal recessive 74 MIM#617169; Lissencephaly spectrum disorders MONDO:0018838
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Definitive classification by ClinGen.
Mouse model present.

Note: Gene has also been implicated in Sotos Syndrome Type 3 which features intellectual disability and characteristic facial features
Sources: Literature
Mendeliome v1.2368 CFAP54 Zornitza Stark Marked gene: CFAP54 as ready
Mendeliome v1.2368 CFAP54 Zornitza Stark Gene: cfap54 has been classified as Red List (Low Evidence).
Mendeliome v1.2368 CFAP54 Zornitza Stark gene: CFAP54 was added
gene: CFAP54 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP54 were set to 26224312; 36593121
Phenotypes for gene: CFAP54 were set to Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation
Review for gene: CFAP54 was set to RED
Added comment: PMID 36593121: Three men identified with bi-allelic variants and multiple morphologic abnormalities of the flagella or non-obstructive azoospermia.

PMID: 26224312: Homozygous mice have PCD characterized by hydrocephalus, male infertility (spermatogenesis defects in flagella maturation), and mucus accumulation. Brain analysis showed mild dilatation of the lateral ventricles. Tracheal cilia beat frequency was significantly reduced. The gene was highest expressed in the testis and lungs
Sources: Literature
Ciliary Dyskinesia v1.44 CFAP54 Zornitza Stark Publications for gene: CFAP54 were set to PMID: 26224312
Ciliary Dyskinesia v1.43 CFAP54 Zornitza Stark edited their review of gene: CFAP54: Changed publications: 36593121
Ciliary Dyskinesia v1.43 CFAP54 Zornitza Stark Phenotypes for gene: CFAP54 were changed from Hydrocephalus, male infertility, mucus accumulation to Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation
Ciliary Dyskinesia v1.42 CFAP54 Zornitza Stark reviewed gene: CFAP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 98, MIM# 621124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2367 BUD13 Zornitza Stark Phenotypes for gene: BUD13 were changed from Lipodystrophy, MONDO:0006573 to Achalasia-progeroid syndrome, MIM# 621123
Mendeliome v1.2366 BUD13 Zornitza Stark reviewed gene: BUD13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-progeroid syndrome, MIM# 621123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.18 BUD13 Zornitza Stark Phenotypes for gene: BUD13 were changed from Lipodystrophy, MONDO:0006573 to Achalasia-progeroid syndrome, MIM# 621123
Lipodystrophy_Lipoatrophy v1.17 BUD13 Zornitza Stark reviewed gene: BUD13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-progeroid syndrome, MIM# 621123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 LIPA Karina Sandoval reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374935, 11487567, 8617513, 21963785; Phenotypes: Wolman disease, MIM#620151, Cholesteryl ester storage disease, MIM#278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 LIFR Karina Sandoval reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9674905, 9674906, 14740318, 24988918, 35663789, 20447141, 29620724, 28334964; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 L1CAM Karina Sandoval reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280, 9279760, 11857550, 15148591, 15368500, 22354677; Phenotypes: MASA syndrome, MIM#303350, Hydrocephalus, congenital, X-linked, MIM#307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1568 KDM5C Karina Sandoval reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM#300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1568 IQSEC2 Karina Sandoval changed review comment from: De novo variants and PTCs in females are severe, while inherited missense are milder. Females with these missense may be asymptomatic or show mild intellectual disability (PMID: 31415821). Autistic features are common.

Missense can be both GOF or LOF.

More than 20 unrelated families reported.; to: De novo variants and PTCs in females are severe, while inherited missense are milder. Females with these missense may be asymptomatic or show mild intellectual disability (PMID: 31415821). Autistic features are common.

Missense can be both GOF or LOF.

More than 20 unrelated families reported.

ClinGen: Definitive gene-disease association - The affected individuals, including both males and females, typically have intellectual disability with variable seizures, autistic traits, and psychiatric problems. Males are generally more severely affected compared with females.
Prepair 1000+ v1.1568 IQSEC2 Karina Sandoval reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33368194, 20473311, 23674175, 31415821, 30842726; Phenotypes: Intellectual developmental disorder, X-linked 1, MIM#309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1568 IGF1R Karina Sandoval reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944, 14657428, 25040157, 23045302, 26252249, 15928254, 22130793, 17264177; Phenotypes: Insulin-like growth factor I, resistance to, MIM#270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HOGA1 Karina Sandoval reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: None; Publications: 20797690, 21896830, 22391140, 36688940; Phenotypes: Hyperoxaluria, primary, type III, MIM#613616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HMGCS2 Karina Sandoval reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 9337379, 23751782, 33045405, 32470406, 32259399, 16601895; Phenotypes: HMG-CoA synthase-2 deficiency, MIM#605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HEXA Karina Sandoval reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388111, 20301397; Phenotypes: Tay-Sachs disease, GM2-gangliosidosis, several forms, [Hex A pseudodeficiency], MIM#272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 GUCY2C Karina Sandoval reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 22436048, 25994218, 30353760, 28957388, 22521417, 33883099, 31079856; Phenotypes: Meconium ileus, MIM#614665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 GPR179 Karina Sandoval reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive, MIM#614565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 GJC2 Karina Sandoval reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390, 20537300, 21266381, 15192806, 18094336, 22669416, 24374284, 15192806; Phenotypes: Leukodystrophy, hypomyelinating, 2, MIM#608804; Mode of inheritance: None
Epidermolysis bullosa v1.22 CSTB Dmitrijs Rots reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v1.1568 GAA Karina Sandoval reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25103075, 27365701, 29880332; Phenotypes: Glycogen storage disease II, MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2366 KCNQ1OT1 Zornitza Stark Classified gene: KCNQ1OT1 as Amber List (moderate evidence)
Mendeliome v1.2366 KCNQ1OT1 Zornitza Stark Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1568 EIF2AK4 Karina Sandoval changed review comment from: Slowly progressive and ultimately fatal without a lung transplant. Age of onset in 3rd decade.

Pulmonary hypertension is a feature of the condition
Severe; yes. Early onset; ?

PMID:24135949 - 2 affected sibs, aged 19y & 33y at diagnosis. And 2x sporadic cases at 22y & 15y

PMID: 24292273 - 13 families with 19 affected individuals. Age of PVOD diagnosis 3x 2nd decade (aged 11, 15 & 19), 9x 3rd decade, 4x 4th decade, 2x 5th decade, 1x 6th decade; to: Slowly progressive and ultimately fatal without a lung transplant. Age of onset in 3rd decade.

Pulmonary hypertension is a feature of the condition

Well established gene-disease assoc. Severe; yes. Early onset; varies

PMID:24135949 - 2 affected sibs, aged 19y & 33y at diagnosis. And 2x sporadic cases at 22y & 15y

PMID: 24292273 - 13 families with 19 affected individuals. Age of PVOD diagnosis 3x 2nd decade (aged 11, 15 & 19), 9x 3rd decade, 4x 4th decade, 2x 5th decade, 1x 6th decade
Prepair 1000+ v1.1568 EIF2AK4 Karina Sandoval reviewed gene: EIF2AK4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24135949, 24292273; Phenotypes: Pulmonary venoocclusive disease 2, MIM#234810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DYNC2H1 Karina Sandoval reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158, 32753734, 31730820, 32753734; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DNAJC6 Karina Sandoval reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33983693, 22563501, 23211418, 26528954; Phenotypes: Parkinson disease 19a, juvenile-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.80 PIGW Zornitza Stark Classified gene: PIGW as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.80 PIGW Zornitza Stark Gene: pigw has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.79 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: Downgraded to AMBER, assessed as LIMITED by ClinGen.; Changed rating: AMBER
Genetic Epilepsy v1.118 PIGW Zornitza Stark Classified gene: PIGW as Amber List (moderate evidence)
Genetic Epilepsy v1.118 PIGW Zornitza Stark Gene: pigw has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.117 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: Downgraded to AMBER, assessed as LIMITED by ClinGen.; Changed rating: AMBER
Congenital Disorders of Glycosylation v1.60 PIGW Zornitza Stark Phenotypes for gene: PIGW were changed from Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; intractable seizures; West syndrome; severe developmental delay; dysmorphic facial features; hyperphosphatasia; epilepsy; recurrent respiratory infections; hypotonia; stereotypies to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025
Prepair 1000+ v1.1568 DNAJC21 Karina Sandoval reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3, MIM#617052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.59 PIGW Zornitza Stark Classified gene: PIGW as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.59 PIGW Zornitza Stark Gene: pigw has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v1.58 PIGW Zornitza Stark reviewed gene: PIGW: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2365 PIGW Zornitza Stark Classified gene: PIGW as Amber List (moderate evidence)
Mendeliome v1.2365 PIGW Zornitza Stark Gene: pigw has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2364 PIGW Zornitza Stark edited their review of gene: PIGW: Added comment: Downgraded to AMBER in light of ClinGen's assessment as LIMITED.; Changed rating: AMBER
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.156 KIAA1549 Zornitza Stark Marked gene: KIAA1549 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.156 KIAA1549 Zornitza Stark Gene: kiaa1549 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.156 KIAA1549 Zornitza Stark edited their review of gene: KIAA1549: Changed phenotypes: retinitis pigmentosa 86 MONDO:0032834
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.156 KIAA1549 Zornitza Stark reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.156 KIAA1549 Zornitza Stark Phenotypes for gene: KIAA1549 were changed from Retinitis pigmentosa 86 to retinitis pigmentosa 86 MONDO:0032834
Mendeliome v1.2364 KIAA1549 Zornitza Stark Marked gene: KIAA1549 as ready
Mendeliome v1.2364 KIAA1549 Zornitza Stark Gene: kiaa1549 has been classified as Green List (High Evidence).
Mendeliome v1.2364 KIAA1549 Zornitza Stark Classified gene: KIAA1549 as Green List (high evidence)
Mendeliome v1.2364 KIAA1549 Zornitza Stark Gene: kiaa1549 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1568 DNAAF4 Karina Sandoval reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23872636; Phenotypes: Ciliary dyskinesia, primary, 25, MIM#615482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DHCR24 Karina Sandoval reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559, 11519011, 24961299; Phenotypes: Desmosterolosis, MIM#602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2363 KIAA1549 Sangavi Sivagnanasundram gene: KIAA1549 was added
gene: KIAA1549 was added to Mendeliome. Sources: ClinGen
Mode of inheritance for gene: KIAA1549 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1549 were set to 30120214; 34027671
Phenotypes for gene: KIAA1549 were set to retinitis pigmentosa 86 MONDO:0032834
Review for gene: KIAA1549 was set to GREEN
Added comment: Classified as STRONG by ClinGen Retina GCEP on 18/02/2025 - https://search.clinicalgenome.org/CCID:008708

Reported in 5 probands with RP - Green according to PanelApp
Sources: ClinGen
Mendeliome v1.2363 IFT74 Sangavi Sivagnanasundram reviewed gene: IFT74: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2363 PIGW Sangavi Sivagnanasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 34618440; Phenotypes: hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2363 MYL1 Sangavi Sivagnanasundram reviewed gene: MYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital myopathy MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2363 DEF6 Sangavi Sivagnanasundram reviewed gene: DEF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: immunodeficiency 87 and autoimmunity MONDO:0030457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 ZNF469 Cassandra Muller reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: None; Publications: 33739556, 37098112, 31496642, 18452888; Phenotypes: Brittle cornea syndrome 1, 229200, (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 XPC Cassandra Muller changed review comment from: Strong gene disease association.; to: Strong gene disease association. Severe DNA repair disorder, early childhood onset. Characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer. Can cause premature death.
Prepair 1000+ v1.1568 XPC Cassandra Muller reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26255934, 8298653; Phenotypes: Xeroderma pigmentosum, group C, 278720 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 WRAP53 Cassandra Muller reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 29514627, 32303682; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, 613988 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.124 ELF4 Zornitza Stark Phenotypes for gene: ELF4 were changed from Inflammatory bowel disease to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)
Inflammatory bowel disease v0.123 ELF4 Zornitza Stark reviewed gene: ELF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074); Mode of inheritance: None
Mendeliome v1.2363 ELF4 Zornitza Stark Marked gene: ELF4 as ready
Mendeliome v1.2363 ELF4 Zornitza Stark Gene: elf4 has been classified as Green List (High Evidence).
Mendeliome v1.2363 SLC25A25 Zornitza Stark Marked gene: SLC25A25 as ready
Mendeliome v1.2363 SLC25A25 Zornitza Stark Gene: slc25a25 has been classified as Red List (Low Evidence).
Mendeliome v1.2363 SLC25A25 Zornitza Stark gene: SLC25A25 was added
gene: SLC25A25 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC25A25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC25A25 were set to 34346195
Phenotypes for gene: SLC25A25 were set to Nephrolithiasis MONDO:0008171,SLC25A25 related
Penetrance for gene: SLC25A25 were set to Incomplete
Review for gene: SLC25A25 was set to RED
Added comment: SLC25A25 encodes mitochondrial ATP-Mg/Pi carrier 3

A single missense variant was reported in 2 families with renal stones in 2021 by Jabalameli et al (PMID: 3436195).
In family 1 there was 4 affected individuals who shared the same heterozygous variant NM_001330988.2 c.1083G>C|p.Gln361His, however this variant was also seen in 7 individuals in the family without stones
In family 2 there were 7 affected individuals who also had p.Gln361His however this variant was also seen in 3 family members without stones.

This variant is located within the mitochondrial carrier domain and functional studies were performed looking at uptake of radioactive ATP compared to wild type. These studies demonstrated the variant protein had approximately 21% activity compared to wild type.

The variant was proposed to have incomplete penetrance and it should be noted there is 4352 heterozygotes in gnomad 4.

At this time there is insufficient evidence for a gene disease association between SLC25A25 and nephrolithiasis.
Sources: Literature
Mendeliome v1.2362 ELF4 Bryony Thompson Classified gene: ELF4 as Green List (high evidence)
Mendeliome v1.2362 ELF4 Bryony Thompson Gene: elf4 has been classified as Green List (High Evidence).
Mendeliome v1.2360 ELF4 Bryony Thompson gene: ELF4 was added
gene: ELF4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ELF4 were set to 38231408
Phenotypes for gene: ELF4 were set to autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0024770
Inflammatory bowel disease v0.123 ELF4 Bryony Thompson Marked gene: ELF4 as ready
Inflammatory bowel disease v0.123 ELF4 Bryony Thompson Gene: elf4 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.123 ELF4 Bryony Thompson Classified gene: ELF4 as Green List (high evidence)
Inflammatory bowel disease v0.123 ELF4 Bryony Thompson Gene: elf4 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.18 SLC25A25 Zornitza Stark Marked gene: SLC25A25 as ready
Renal Tubulopathies and related disorders v1.18 SLC25A25 Zornitza Stark Gene: slc25a25 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.18 SLC25A25 Zornitza Stark Classified gene: SLC25A25 as Red List (low evidence)
Renal Tubulopathies and related disorders v1.18 SLC25A25 Zornitza Stark Gene: slc25a25 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.17 SLC25A25 Sarah Milton gene: SLC25A25 was added
gene: SLC25A25 was added to Renal Tubulopathies and related disorders. Sources: Literature
Mode of inheritance for gene: SLC25A25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC25A25 were set to 34346195
Phenotypes for gene: SLC25A25 were set to Nephrolithiasis MONDO:0008171,SLC25A25 related
Penetrance for gene: SLC25A25 were set to Incomplete
Review for gene: SLC25A25 was set to RED
Added comment: SLC25A25 encodes mitochondrial ATP-Mg/Pi carrier 3

A single missense variant was reported in 2 families with renal stones in 2021 by Jabalameli et al (PMID: 3436195).
In family 1 there was 4 affected individuals who shared the same heterozygous variant NM_001330988.2 c.1083G>C|p.Gln361His, however this variant was also seen in 7 individuals in the family without stones
In family 2 there were 7 affected individuals who also had p.Gln361His however this variant was also seen in 3 family members without stones.

This variant is located within the mitochondrial carrier domain and functional studies were performed looking at uptake of radioactive ATP compared to wild type. These studies demonstrated the variant protein had approximately 21% activity compared to wild type.

The variant was proposed to have incomplete penetrance and it should be noted there is 4352 heterozygotes in gnomad 4.

At this time there is insufficient evidence for a gene disease association between SLC25A25 and nephrolithiasis.
Sources: Literature
Prepair 1000+ v1.1568 FERMT3 Melanie Marty reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234460, 19064721; Phenotypes: Leukocyte adhesion deficiency, type III, MIM# 612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FBP1 Melanie Marty reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FANCA Melanie Marty reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FAM126A Melanie Marty reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16951682, 21911699, 23998934, 22749724; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FAH Melanie Marty reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8253378, 1401056, 8364576, 8318997, 25681080; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 ERCC5 Melanie Marty reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v1.87 AFG3L2 Chirag Patel Publications for gene: AFG3L2 were set to 22022284; 25401298; 20208537; 20725928; 33075064; 32248051; 30910913
Aortopathy_Connective Tissue Disorders v1.87 ATP6V1A Chirag Patel Classified gene: ATP6V1A as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.87 ATP6V1A Chirag Patel Gene: atp6v1a has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.87 ATP6V1A Chirag Patel Classified gene: ATP6V1A as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.87 ATP6V1A Chirag Patel Gene: atp6v1a has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.87 ATP6V1A Chirag Patel Classified gene: ATP6V1A as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.87 ATP6V1A Chirag Patel Gene: atp6v1a has been classified as Green List (High Evidence).
Mendeliome v1.2359 ATP5A1 Chirag Patel Publications for gene: ATP5A1 were set to 23599390
Prepair 1000+ v1.1568 TTN Andrew Coventry reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145747, 17444505, 3975875, 24105469, 24395473, 25772186, 26392295, 26581302, 27796757, 28040389, 29575618, 29691892, 31660661; Phenotypes: TTN-related myopathy MONDO:0100175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.45 APOA1 Chirag Patel Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dyslipidaemia v0.44 APOA1 Chirag Patel Mode of inheritance for gene: APOA1 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 v1.2358 APOA1 Chirag Patel Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.2357 APOA1 Chirag Patel Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dyslipidaemia v0.43 APOA1 Chirag Patel Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.1568 AMN Andrew Coventry reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: None; Publications: 12590260, 15024727, 17285242, 24156255, 26040326, 27604308; Phenotypes: Imerslund-Grasbeck syndrome 2 MIM#618882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DBR1 Andrew Coventry reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279, 29474921, 38325642; Phenotypes: Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510, Viral infections of the brainstem, Ichthyosis (MONDO#0019269); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HPDL Andrew Coventry reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300, 33634263, 33970200, 18853439; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026, Spastic paraplegia 83, autosomal recessive MIM#619027, Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 SCN1B Andrew Coventry reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36291443, 31709768, 19710327, 23148524, 28218389, 33901312; Phenotypes: Developmental and epileptic encephalopathy 52 MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2356 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278 to Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243; Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
Mendeliome v1.2355 SLC9A6 Zornitza Stark Publications for gene: SLC9A6 were set to 18342287; 19377476; 25044251; 33278113; 32569089; 31879735
Mendeliome v1.2354 SLC9A6 Zornitza Stark edited their review of gene: SLC9A6: Added comment: Multiple female carriers reported with adult-onset neurological phenotypes including neurodegerative disease and Parkinsonism. Some had affected sons with ID. Uncertain whether this is a separate entity or manifestation in female carriers of a XL condition.; Changed publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735, 35198730, 39810750, 35198730, 31192222; Changed phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243, Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
Early-onset Parkinson disease v2.12 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Early-onset Parkinson disease v2.12 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.12 SLC9A6 Zornitza Stark Classified gene: SLC9A6 as Green List (high evidence)
Early-onset Parkinson disease v2.12 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.11 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: SLC9A6 were set to 35198730; 39810750; 35198730; 31192222
Phenotypes for gene: SLC9A6 were set to Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
Review for gene: SLC9A6 was set to GREEN
Added comment: Multiple female carriers reported with adult-onset neurological phenotypes including neurodegerative disease and Parkinsonism. Some had affected sons with ID. Uncertain whether this is a separate entity or manifestation in female carriers of a XL condition.
Sources: Literature
Early-onset Dementia v1.32 SLC9A6 Zornitza Stark Mode of inheritance for gene: SLC9A6 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)
Early-onset Dementia v1.31 SLC9A6 Zornitza Stark edited their review of gene: SLC9A6: Changed phenotypes: Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early-onset Dementia v1.31 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Early-onset Dementia v1.31 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Early-onset Dementia v1.31 SLC9A6 Zornitza Stark Classified gene: SLC9A6 as Green List (high evidence)
Early-onset Dementia v1.31 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Early-onset Dementia v1.30 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A6 were set to 35198730; 39810750; 35198730; 31192222
Phenotypes for gene: SLC9A6 were set to Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
Review for gene: SLC9A6 was set to GREEN
Added comment: Multiple female carriers reported with adult-onset neurological phenotypes including neurodegerative disease and Parkinsonism. Some had affected sons with ID. Uncertain whether this is a separate entity or manifestation in female carriers of a XL condition.
Sources: Literature
Mendeliome v1.2354 CFAP47 Zornitza Stark Phenotypes for gene: CFAP47 were changed from Spermatogenic failure, X-linked, 3, MIM# 301059; asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF) to Spermatogenic failure, X-linked, 3, MIM# 301059; Cystic kidney disease MONDO:0002473
Mendeliome v1.2353 CFAP47 Zornitza Stark Publications for gene: CFAP47 were set to PMID: 33472045
Prepair 1000+ v1.1568 USH2A Cassandra Muller reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20507924, 9624053, 15015129, 20301515, 36041150, 34331125; Phenotypes: Usher syndrome, type 2A, 276901 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 UFM1 Cassandra Muller reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, 617899 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 SMPD1 Lilian Downie Marked gene: SMPD1 as ready
Prepair 1000+ v1.1568 SMPD1 Lilian Downie Gene: smpd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1568 SMPD1 Lilian Downie Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A, 257200 (3) to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616
Prepair 1000+ v1.1567 SMPD1 Lilian Downie Publications for gene: SMPD1 were set to
Prepair 1000+ v1.1566 PTPN23 Lilian Downie Marked gene: PTPN23 as ready
Prepair 1000+ v1.1566 PTPN23 Lilian Downie Added comment: Comment when marking as ready: UPGRADE TO GREEN
Prepair 1000+ v1.1566 PTPN23 Lilian Downie Gene: ptpn23 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1566 TYMP Cassandra Muller reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9924029; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v1.19 BAG3 Chirag Patel edited their review of gene: BAG3: Added comment: PMID: 37907725
7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.

PMID: 31853710
2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.

PMID: 30145633
1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.

PMID: 28754666
9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.; Changed publications: PMID: 37907725, 31853710, 30145633, 28754666
Mendeliome v1.2352 BAG3 Chirag Patel reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37907725, 31853710, 30145633, 28754666; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362, Charcot-Marie-Tooth disease type 2 MONDO: 0018993; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v1.19 BAG3 Chirag Patel Deleted their comment
Hereditary Neuropathy - complex v1.19 BAG3 Chirag Patel changed review comment from: PMID: 37907725
7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.

PMID: 31853710
2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.

PMID: 30145633
1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.

PMID: 28754666
9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.; to: PMID: 37907725
7 individuals from the one family with distal motor neuronopathy (mean age of onset ~46 years). They presented with slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, absent Achilles reflexes, and neurogenic changes on muscle biopsies. There were no sensory abnormalities or signs of myofibrillar myopathy. WES with segregation analysis identified a novel heterozygous truncating variant in the gene BAG3 in all affected family members [c.1513_1514insGGAC (p.Val505GlyfsTer6)]. There was autosomal dominant inheritance with incomplete penetrance in women. Western blot analysis of muscle tissue from 2 individuals showed presence of a truncated BAG3 protein. Functional studies of the variant were not performed.

PMID: 31853710
2 individuals from a Chinese family with adult-onset and moderate CMT. Nerve conduction velocity studies and sural nerve biopsy revealed an axonal sensorimotor neuropathy. MRI showed fatty infiltration more severe in the soleus and deep posterior compartment muscles. WES identified a missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.

PMID: 30145633
1 individual with axonal sensory-motor polyneuropathy, myopathy (and raised CK levels), rigid spine syndrome, and respiratory dysfunction (but no cardiomyopathy). MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, and it was de novo in the individual. Functional studies of the variant were not performed.

PMID: 28754666
9 affected individuals from 2 large multigenerational families with CMT phenotype, but no evidence of a myopathy. WES identified the same missense variant (p.Pro209Ser) in BAG3 gene, which co-segregated with the CMT disease in the family. Functional studies of the variant were not performed.
Hereditary Neuropathy - complex v1.19 BAG3 Chirag Patel reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37907725, PMID: 31853710; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362, Charcot-Marie-Tooth disease type 2 MONDO: 0018993; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.79 PPP2R5E Chirag Patel gene: PPP2R5E was added
gene: PPP2R5E was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PPP2R5E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2R5E were set to PMID: 39284558
Phenotypes for gene: PPP2R5E were set to Mendelian neurodevelopmental disorder MONDO:0100500
Review for gene: PPP2R5E was set to RED
Added comment: One 20yrs old individual with learning issues, motor coordination disorders, hypotonia (myopathy on EMG), and behavioural issues (mood and emotional dysregulation). WES testing identified a de novo heterozygous missense variant (Glu191Lys) in PPP2R5E gene. The variant was not found in the 4 healthy brothers of the individual. The variant is located within a conserved LFDSEDPRER motif common to all PPP2R5 B-subunits. Biochemical assays demonstrated a decreased interaction with the PP2A A and C subunits, leading to disturbances in holoenzyme formation.

Protein phosphatase 2A (PP2A) is a family of multifunctional enzymatic complexes crucial for cellular signalling, playing a pivotal role in brain function and development. Mutations in specific genes encoding PP2A complexes have been associated with neurodevelopmental disorders with hypotonia and high risk of seizures (e.g. PP2AR-1A, 2B, 3C, 5C, 5D).
Sources: Literature
Mendeliome v1.2352 PPP2R5E Chirag Patel gene: PPP2R5E was added
gene: PPP2R5E was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPP2R5E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2R5E were set to PMID: 39284558
Phenotypes for gene: PPP2R5E were set to Mendelian neurodevelopmental disorder MONDO:0100500
Review for gene: PPP2R5E was set to RED
Added comment: One 20yrs old individual with learning issues, motor coordination disorders, hypotonia (myopathy on EMG), and behavioural issues (mood and emotional dysregulation). WES testing identified a de novo heterozygous missense variant (Glu191Lys) in PPP2R5E gene. The variant was not found in the 4 healthy brothers of the individual. The variant is located within a conserved LFDSEDPRER motif common to all PPP2R5 B-subunits. Biochemical assays demonstrated a decreased interaction with the PP2A A and C subunits, leading to disturbances in holoenzyme formation.

Protein phosphatase 2A (PP2A) is a family of multifunctional enzymatic complexes crucial for cellular signalling, playing a pivotal role in brain function and development. Mutations in specific genes encoding PP2A complexes have been associated with neurodevelopmental disorders with hypotonia and high risk of seizures (e.g. PP2AR-1A, 2B, 3C, 5C, 5D).
Sources: Literature
Renal Macrocystic Disease v0.79 CFAP47 Chirag Patel changed review comment from: 3 individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts or any family history of cystic kidney disease.

WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased.

CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.
Sources: Literature; to: 3 Japanese individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts, infertility, or any family history of cystic kidney disease.

WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased.

CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.
Sources: Literature
Mendeliome v1.2351 CFAP47 Chirag Patel changed review comment from: 3 individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts or any family history of cystic kidney disease. WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased. CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.; to: 3 Japanese individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts, infertility, or any family history of cystic kidney disease. WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased. CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.
Mendeliome v1.2351 CFAP47 Chirag Patel reviewed gene: CFAP47: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39698362; Phenotypes: Cystic kidney disease MONDO:0002473; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Renal Macrocystic Disease v0.79 CFAP47 Chirag Patel Classified gene: CFAP47 as Amber List (moderate evidence)
Renal Macrocystic Disease v0.79 CFAP47 Chirag Patel Gene: cfap47 has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.78 CFAP47 Chirag Patel gene: CFAP47 was added
gene: CFAP47 was added to Renal Macrocystic Disease. Sources: Literature
Mode of inheritance for gene: CFAP47 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CFAP47 were set to PMID: 39698362
Phenotypes for gene: CFAP47 were set to Cystic kidney disease MONDO:0002473
Review for gene: CFAP47 was set to AMBER
Added comment: 3 individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts or any family history of cystic kidney disease.

WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased.

CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.
Sources: Literature
Prepair 1000+ v1.1566 TMEM237 Cassandra Muller reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675, 22152675; Phenotypes: Joubert syndrome 14, 614424 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TMEM231 Cassandra Muller reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, 614970, (3), Meckel syndrome 11, 615397 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TMEM165 Cassandra Muller reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, 614727 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SPINT2 Cassandra Muller reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30445423, 19185281; Phenotypes: Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SMPD1 Cassandra Muller reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26499107; Phenotypes: Niemann-Pick disease, type A, 257200 (3), Niemann-Pick disease, type B, 607616 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 MCM4 Kate Scarff reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM #609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Changed rating: GREEN
Prepair 1000+ v1.1566 SLC6A8 Cassandra Muller reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326334, 11898126, 15154114, 17101918, 16086185; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352 (3); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 LTBP4 Kate Scarff reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26866239, 22829427, 19836010; Phenotypes: Cutis laxa, autosomal recessive, type IC, #613177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mosaic skin disorders v1.14 GNA13 Zornitza Stark Tag somatic tag was added to gene: GNA13.
Mendeliome v1.2351 GNA13 Zornitza Stark Tag somatic tag was added to gene: GNA13.
Intellectual disability syndromic and non-syndromic v1.78 DDX39B Zornitza Stark Marked gene: DDX39B as ready
Intellectual disability syndromic and non-syndromic v1.78 DDX39B Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.78 DDX39B Zornitza Stark Classified gene: DDX39B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.78 DDX39B Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence).
Genetic Epilepsy v1.117 DDX39B Zornitza Stark Marked gene: DDX39B as ready
Genetic Epilepsy v1.117 DDX39B Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence).
Genetic Epilepsy v1.117 DDX39B Zornitza Stark Classified gene: DDX39B as Green List (high evidence)
Genetic Epilepsy v1.117 DDX39B Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence).
Mendeliome v1.2351 DDX39B Zornitza Stark Marked gene: DDX39B as ready
Mendeliome v1.2351 DDX39B Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence).
Mendeliome v1.2351 DDX39B Zornitza Stark Classified gene: DDX39B as Green List (high evidence)
Mendeliome v1.2351 DDX39B Zornitza Stark Gene: ddx39b has been classified as Green List (High Evidence).
Microcephaly v1.301 CDO1 Zornitza Stark Marked gene: CDO1 as ready
Microcephaly v1.301 CDO1 Zornitza Stark Gene: cdo1 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.301 CDO1 Zornitza Stark Classified gene: CDO1 as Amber List (moderate evidence)
Microcephaly v1.301 CDO1 Zornitza Stark Gene: cdo1 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.300 CDO1 Zornitza Stark gene: CDO1 was added
gene: CDO1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CDO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDO1 were set to 39949058
Phenotypes for gene: CDO1 were set to Syndromic disease, MONDO:0002254, CDO1-related
Review for gene: CDO1 was set to AMBER
Added comment: Three children with overlapping features including severe microcephaly and DD/ID. Three missense de novo variants were identified and were clustered around exon 3 and exon 4. The three missense variants identified p.(His147Arg, Ala131Val, Glu143Lys) are all absent from gnomAD v4.1.
Sources: Literature
Prepair 1000+ v1.1566 SLC52A3 Cassandra Muller reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20206331, 26976849, 29053833, 25462087; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, 211530 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.77 CDO1 Zornitza Stark Marked gene: CDO1 as ready
Intellectual disability syndromic and non-syndromic v1.77 CDO1 Zornitza Stark Gene: cdo1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.77 CDO1 Zornitza Stark Classified gene: CDO1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.77 CDO1 Zornitza Stark Gene: cdo1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.76 CDO1 Zornitza Stark gene: CDO1 was added
gene: CDO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDO1 were set to 39949058
Phenotypes for gene: CDO1 were set to Syndromic disease, MONDO:0002254, CDO1-related
Review for gene: CDO1 was set to AMBER
Added comment: Three children with overlapping features including severe microcephaly and DD/ID. Three missense de novo variants were identified and were clustered around exon 3 and exon 4. The three missense variants identified p.(His147Arg, Ala131Val, Glu143Lys) are all absent from gnomAD v4.1.
Sources: Literature
Mendeliome v1.2350 CDO1 Zornitza Stark Marked gene: CDO1 as ready
Mendeliome v1.2350 CDO1 Zornitza Stark Gene: cdo1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2350 CDO1 Zornitza Stark Phenotypes for gene: CDO1 were changed from Neurological Disorder MONDO:0100545 to Syndromic disease, MONDO:0002254, CDO1-related
Mendeliome v1.2349 CDO1 Zornitza Stark Classified gene: CDO1 as Amber List (moderate evidence)
Mendeliome v1.2349 CDO1 Zornitza Stark Gene: cdo1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2348 CDO1 Zornitza Stark reviewed gene: CDO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease, MONDO:0002254, CDO1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.75 PHACTR4 Zornitza Stark Marked gene: PHACTR4 as ready
Intellectual disability syndromic and non-syndromic v1.75 PHACTR4 Zornitza Stark Gene: phactr4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.75 PHACTR4 Zornitza Stark Classified gene: PHACTR4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.75 PHACTR4 Zornitza Stark Gene: phactr4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.74 PHACTR4 Zornitza Stark gene: PHACTR4 was added
gene: PHACTR4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PHACTR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHACTR4 were set to 40012205
Phenotypes for gene: PHACTR4 were set to Syndromic disease, MONDO:0002254, PHACTR4-related
Review for gene: PHACTR4 was set to AMBER
Added comment: Two individuals with syndromic disease and de novo missense variants reported together with aggregate information on additional individuals.
Sources: Literature
Deafness_IsolatedAndComplex v1.213 ATF6 Bryony Thompson Marked gene: ATF6 as ready
Deafness_IsolatedAndComplex v1.213 ATF6 Bryony Thompson Gene: atf6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2348 ATF6 Bryony Thompson reviewed gene: ATF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 39570676; Phenotypes: hearing loss disorder MONDO:0005365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.213 ATF6 Bryony Thompson Classified gene: ATF6 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.213 ATF6 Bryony Thompson Gene: atf6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2348 PHACTR4 Zornitza Stark Marked gene: PHACTR4 as ready
Mendeliome v1.2348 PHACTR4 Zornitza Stark Gene: phactr4 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.212 ATF6 Bryony Thompson gene: ATF6 was added
gene: ATF6 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATF6 were set to 39570676
Phenotypes for gene: ATF6 were set to ATF6-related retinopathy MONDO:0100447
Review for gene: ATF6 was set to AMBER
Added comment: The gene-disease association with retinopathy & achromatopsia is well-established. Currently, 2 families have been reported with deafness.
Homozygous missense (c.970C>T, p.Arg324Cys) segregating with achromatopsia and deafness in 3 siblings in a single family. Proband underwent testing with a 356 gene hearing loss panel with no alternative cause for the deafness identified. Another homozygous missense variant (c.1699T>A, p.Tyr567Asn) was identified in an unrelated proband with achromatopsia and deafness. Other testing of deafness genes was not conducted in this proband. Also, supporting null mouse model.
Sources: Literature
Mendeliome v1.2348 PHACTR4 Zornitza Stark Phenotypes for gene: PHACTR4 were changed from Abnormality in embryonic development, MONDO:0019755 to Syndromic disease, MONDO:0002254, PHACTR4-related
Mendeliome v1.2347 PHACTR4 Zornitza Stark Classified gene: PHACTR4 as Amber List (moderate evidence)
Mendeliome v1.2347 PHACTR4 Zornitza Stark Gene: phactr4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2346 PHACTR4 Zornitza Stark reviewed gene: PHACTR4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease, MONDO:0002254, PHACTR4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.299 C14orf80 Zornitza Stark Tag new gene name tag was added to gene: C14orf80.
Mendeliome v1.2346 C14orf80 Zornitza Stark Tag new gene name tag was added to gene: C14orf80.
Intellectual disability syndromic and non-syndromic v1.73 C14orf80 Zornitza Stark Marked gene: C14orf80 as ready
Intellectual disability syndromic and non-syndromic v1.73 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.73 C14orf80 Zornitza Stark Classified gene: C14orf80 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.73 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.72 C14orf80 Zornitza Stark gene: C14orf80 was added
gene: C14orf80 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
new gene name tags were added to gene: C14orf80.
Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf80 were set to 39979680; 38252227
Phenotypes for gene: C14orf80 were set to Primary microcephaly, MONDO:0016660
Review for gene: C14orf80 was set to AMBER
Added comment: New HGNC approved Gene Name: TEDC1
Only two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous with hmz missense.

PMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].
Homozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease.

PMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly.
Sources: Literature
Prepair 1000+ v1.1566 LTBP3 Kate Scarff reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38192829, 19344874, 25899461, 25669657, 29625025; Phenotypes: Dental anomalies and short stature, MIM #601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.299 C14orf80 Zornitza Stark Marked gene: C14orf80 as ready
Microcephaly v1.299 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.299 C14orf80 Zornitza Stark Classified gene: C14orf80 as Amber List (moderate evidence)
Microcephaly v1.299 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.298 C14orf80 Zornitza Stark gene: C14orf80 was added
gene: C14orf80 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf80 were set to 39979680; 38252227
Phenotypes for gene: C14orf80 were set to Primary microcephaly, MONDO:0016660
Review for gene: C14orf80 was set to AMBER
Added comment: New HGNC approved Gene Name: TEDC1
Only two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous with hmz missense variant.

PMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].
Homozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease.

PMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly.
Sources: Literature
Mendeliome v1.2346 C14orf80 Zornitza Stark Marked gene: C14orf80 as ready
Mendeliome v1.2346 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2346 C14orf80 Zornitza Stark Classified gene: C14orf80 as Amber List (moderate evidence)
Mendeliome v1.2346 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1566 LRP2 Kate Scarff reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512, 20301732; Phenotypes: Donnai-Barrow syndrome, MIM #222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LRIG2 Kate Scarff reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23313374, 30885509, 23967498; Phenotypes: Urofacial syndrome 2, MIM #615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LAMA1 Kate Scarff reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24013853, 25105227, 26932191; Phenotypes: Poretti-Boltshauser syndrome, MIM #615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 IVD Kate Scarff reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38484105, 15486829; Phenotypes: Isovaleric acidemia, MIM #243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2345 MSX1 Sangavi Sivagnanasundram reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005439; Phenotypes: tooth agenesis, selective, 1 MONDO:0007129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.116 SPOUT1 Bryony Thompson Marked gene: SPOUT1 as ready
Genetic Epilepsy v1.116 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.116 SPOUT1 Bryony Thompson Classified gene: SPOUT1 as Green List (high evidence)
Genetic Epilepsy v1.116 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.115 SPOUT1 Bryony Thompson Classified gene: SPOUT1 as Green List (high evidence)
Genetic Epilepsy v1.115 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.115 SPOUT1 Bryony Thompson Classified gene: SPOUT1 as Green List (high evidence)
Genetic Epilepsy v1.115 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Microcephaly v1.297 SPOUT1 Bryony Thompson Marked gene: SPOUT1 as ready
Microcephaly v1.297 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Mendeliome v1.2345 SPOUT1 Bryony Thompson Marked gene: SPOUT1 as ready
Mendeliome v1.2345 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.71 SPOUT1 Bryony Thompson Marked gene: SPOUT1 as ready
Intellectual disability syndromic and non-syndromic v1.71 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Microcephaly v1.297 SPOUT1 Bryony Thompson Classified gene: SPOUT1 as Green List (high evidence)
Microcephaly v1.297 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.71 SPOUT1 Bryony Thompson Classified gene: SPOUT1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.71 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.114 SPOUT1 Bryony Thompson gene: SPOUT1 was added
gene: SPOUT1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related
Review for gene: SPOUT1 was set to GREEN
Added comment: Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature).
Sources: Literature
Mendeliome v1.2345 SPOUT1 Bryony Thompson Classified gene: SPOUT1 as Green List (high evidence)
Mendeliome v1.2345 SPOUT1 Bryony Thompson Gene: spout1 has been classified as Green List (High Evidence).
Microcephaly v1.296 SPOUT1 Bryony Thompson gene: SPOUT1 was added
gene: SPOUT1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related
Review for gene: SPOUT1 was set to GREEN
Added comment: Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature).
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.70 SPOUT1 Bryony Thompson gene: SPOUT1 was added
gene: SPOUT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related
Review for gene: SPOUT1 was set to GREEN
Added comment: Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature).
Sources: Literature
Mendeliome v1.2344 SPOUT1 Bryony Thompson gene: SPOUT1 was added
gene: SPOUT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related
Review for gene: SPOUT1 was set to GREEN
Added comment: Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature).
Sources: Literature
Mendeliome v1.2343 MRPS28 Sangavi Sivagnanasundram reviewed gene: MRPS28: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: combined oxidative phosphorylation deficiency 47, MONDO:0033537; Mode of inheritance: None
Prepair 1000+ v1.1566 TJP2 Lauren Thomas reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 31696999; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2343 SIX2 Zornitza Stark Phenotypes for gene: SIX2 were changed from CAKUT to CAKUT, MONDO:0019719, SIX2-related
Mendeliome v1.2342 SIX2 Zornitza Stark edited their review of gene: SIX2: Changed rating: RED; Changed phenotypes: CAKUT, MONDO:0019719, SIX2-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.122 SIX2 Zornitza Stark Phenotypes for gene: SIX2 were changed from CAKUT to CAKUT, MONDO:0019719, SIX2-related
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.121 SIX2 Zornitza Stark edited their review of gene: SIX2: Changed phenotypes: CAKUT, MONDO:0019719, SIX2-related
Mendeliome v1.2342 SIN3B Zornitza Stark Phenotypes for gene: SIN3B were changed from Syndromic intellectual disability/autism spectrum disorder to Neurodevelopmental disorder, MONDO:0700092, SIN3B-related
Mendeliome v1.2341 SIN3B Zornitza Stark reviewed gene: SIN3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SIN3B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.69 SIN3B Zornitza Stark Phenotypes for gene: SIN3B were changed from Syndromic intellectual disability/autism spectrum disorder to Neurodevelopmental disorder, MONDO:0700092, SIN3B-related
Intellectual disability syndromic and non-syndromic v1.68 SIN3B Zornitza Stark reviewed gene: SIN3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SIN3B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2341 PHACTR4 Sangavi Sivagnanasundram gene: PHACTR4 was added
gene: PHACTR4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PHACTR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHACTR4 were set to 40012205
Phenotypes for gene: PHACTR4 were set to Abnormality in embryonic development, MONDO:0019755
Review for gene: PHACTR4 was set to RED
Added comment: The association with human disease phenotype is not yet established - classified as Red.
Two affected individuals present with overlapping phenotypic features including some neurodevelopmental features. Both having de novo variants (p. Arg622Pro and p.Leu623Pro) located in the RPEL3 repeat domain.
p.Leu623Pro was present at 19% VAF in patient two.
Sources: Literature
Prepair 1000+ v1.1566 TBX19 Lauren Thomas reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 30086867; Phenotypes: Adrenocorticotropic hormone deficiency, MIM# 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2341 C14orf80 Sangavi Sivagnanasundram changed review comment from: New Gene Name: TEDC1
Only two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous

PMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].
Homozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease.

PMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly.
Sources: Literature; to: New HGNC approved Gene Name: TEDC1
Only two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous

PMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].
Homozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease.

PMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly.
Sources: Literature
Mendeliome v1.2341 C14orf80 Sangavi Sivagnanasundram gene: C14orf80 was added
gene: C14orf80 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf80 were set to 39979680; 38252227
Phenotypes for gene: C14orf80 were set to Primary microcephaly, MONDO:0016660
Review for gene: C14orf80 was set to AMBER
Added comment: New Gene Name: TEDC1
Only two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous

PMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].
Homozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease.

PMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly.
Sources: Literature
Prepair 1000+ v1.1566 ST3GAL5 Lauren Thomas reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30691927, 27232954; Phenotypes: Salt and pepper developmental regression syndrome, MIM# 609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2341 CDO1 Sangavi Sivagnanasundram gene: CDO1 was added
gene: CDO1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDO1 were set to 39949058
Phenotypes for gene: CDO1 were set to Neurological Disorder MONDO:0100545
Review for gene: CDO1 was set to AMBER
Added comment: Three children with overlapping neurological features. Three missense de novo variants were identified and were clustered around exon 3 and exon 4.
The three missense variants identified p.(His147Arg, Ala131Val, Glu143Lys) were classified as VUS due to the insilicos and the lack of other reports and are all absent from gnomAD v4.1.
Sources: Literature
Genetic Epilepsy v1.113 DDX39B Sangavi Sivagnanasundram gene: DDX39B was added
gene: DDX39B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX39B were set to 39918047
Phenotypes for gene: DDX39B were set to neurodevelopmental disorder MONDO:0700092, DDX39B-related
Review for gene: DDX39B was set to GREEN
Added comment: Established gene-disease association - epilepsy is a prominent feature in affected individuals.

6 individuals from 5 families with variable neurological and developmental phenotypes including hypotonia, DD, ID and epilepsy.
4 de novo missense variants and 1 inherited splice variant were identified. All variants are absent from gnomAD v4.1.
In vivo functional assay using Drosophila transgenic flies was supportive of a loss of function phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.68 DDX39B Sangavi Sivagnanasundram gene: DDX39B was added
gene: DDX39B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX39B were set to 39918047
Phenotypes for gene: DDX39B were set to neurodevelopmental disorder MONDO:0700092, DDX39B-related
Review for gene: DDX39B was set to GREEN
Added comment: Established gene-disease association - ID/DD is a prominent feature in affected individuals.

6 individuals from 5 families with variable neurological and developmental phenotypes including hypotonia, DD, ID and epilepsy.
4 de novo missense variants and 1 inherited splice variant were identified. All variants are absent from gnomAD v4.1.
In vivo functional assay using Drosophila transgenic flies was supportive of a loss of function phenotype.
Sources: Literature
Mendeliome v1.2341 DDX39B Sangavi Sivagnanasundram gene: DDX39B was added
gene: DDX39B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX39B were set to 39918047
Phenotypes for gene: DDX39B were set to neurodevelopmental disorder MONDO:0700092, DDX39B-related
Review for gene: DDX39B was set to GREEN
Added comment: Established gene-disease association.

6 individuals from 5 families with variable neurological and developmental phenotypes including hypotonia, DD, ID and epilepsy.
4 de novo missense variants and 1 inherited splice variant were identified. All variants are absent from gnomAD v4.1.
In vivo functional assay using Drosophila transgenic flies was supportive of a loss of function phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.68 SMARCA1 Zornitza Stark Marked gene: SMARCA1 as ready
Intellectual disability syndromic and non-syndromic v1.68 SMARCA1 Zornitza Stark Gene: smarca1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.68 SMARCA1 Zornitza Stark Classified gene: SMARCA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.68 SMARCA1 Zornitza Stark Gene: smarca1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.67 SMARCA1 Zornitza Stark gene: SMARCA1 was added
gene: SMARCA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMARCA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SMARCA1 were set to 37841849
Phenotypes for gene: SMARCA1 were set to Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related
Review for gene: SMARCA1 was set to GREEN
Added comment: 40 individuals from 30 families with NDD and variants in this gene reported in this preprint, publication imminent
Sources: Literature
Mendeliome v1.2341 SMARCA1 Zornitza Stark Phenotypes for gene: SMARCA1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related
Mendeliome v1.2340 SMARCA1 Zornitza Stark Publications for gene: SMARCA1 were set to 26740508; 26539891; 29249292
Mendeliome v1.2339 SMARCA1 Zornitza Stark Mode of inheritance for gene: SMARCA1 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
Mendeliome v1.2338 SMARCA1 Zornitza Stark Classified gene: SMARCA1 as Green List (high evidence)
Mendeliome v1.2338 SMARCA1 Zornitza Stark Gene: smarca1 has been classified as Green List (High Evidence).
Mendeliome v1.2337 SMARCA1 Zornitza Stark reviewed gene: SMARCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37841849; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mosaic skin disorders v1.14 GNA13 Bryony Thompson Marked gene: GNA13 as ready
Mosaic skin disorders v1.14 GNA13 Bryony Thompson Gene: gna13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2337 GNA13 Bryony Thompson Marked gene: GNA13 as ready
Mendeliome v1.2337 GNA13 Bryony Thompson Gene: gna13 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v1.14 GNA13 Bryony Thompson Classified gene: GNA13 as Amber List (moderate evidence)
Mosaic skin disorders v1.14 GNA13 Bryony Thompson Added comment: Comment on list classification: Only a single recurrent variant reported at this point.
Mosaic skin disorders v1.14 GNA13 Bryony Thompson Gene: gna13 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2337 GNA13 Bryony Thompson Classified gene: GNA13 as Amber List (moderate evidence)
Mendeliome v1.2337 GNA13 Bryony Thompson Added comment: Comment on list classification: Only a single recurrent variant reported at this point.
Mendeliome v1.2337 GNA13 Bryony Thompson Gene: gna13 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders v1.13 GNA13 Bryony Thompson gene: GNA13 was added
gene: GNA13 was added to Mosaic skin disorders. Sources: Literature
Mode of inheritance for gene: GNA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA13 were set to 39966435
Phenotypes for gene: GNA13 were set to Ito hypomelanosis MONDO:0010302
Mode of pathogenicity for gene: GNA13 was set to Other
Review for gene: GNA13 was set to AMBER
Added comment: 4 unrelated cases with a recurrent post-zygotic GNA13 variant (NM_006572.4:c.599G>A p.Arg200Lys) with a syndrome including hypomelanosis of Ito associated with developmental anomalies. In vitro assays demonstrate a gain of function for the variant. Q226L was an artificial variant demonstrating a gain of function similar to R200K. The suggested mechanism of disease is through upregulation of the RHOA/ROCK pathway altering melanocyte function.
Sources: Literature
Mendeliome v1.2336 GNA13 Bryony Thompson gene: GNA13 was added
gene: GNA13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GNA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA13 were set to 39966435
Phenotypes for gene: GNA13 were set to Ito hypomelanosis MONDO:0010302
Mode of pathogenicity for gene: GNA13 was set to Other
Review for gene: GNA13 was set to AMBER
Added comment: 4 unrelated cases with a recurrent post-zygotic GNA13 variant (NM_006572.4:c.599G>A p.Arg200Lys) with a syndrome including hypomelanosis of Ito associated with developmental anomalies. The variant was identified in one patient via exome sequencing of paired tissue/blood and then targeted GNA13 testing of other cases. In vitro assays demonstrate a gain of function for the variant. Q226L was an artificial variant demonstrating a gain of function similar to R200K. The suggested mechanism of disease is through upregulation of the RHOA/ROCK pathway altering melanocyte function.
Sources: Literature
Ataxia - adult onset v1.20 SPTAN1 Bryony Thompson Marked gene: SPTAN1 as ready
Ataxia - adult onset v1.20 SPTAN1 Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence).
Ataxia - adult onset v1.20 SPTAN1 Bryony Thompson Classified gene: SPTAN1 as Green List (high evidence)
Ataxia - adult onset v1.20 SPTAN1 Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.33 SPTAN1 Bryony Thompson Marked gene: SPTAN1 as ready
Ataxia - paediatric v1.33 SPTAN1 Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.33 SPTAN1 Bryony Thompson Classified gene: SPTAN1 as Green List (high evidence)
Ataxia - paediatric v1.33 SPTAN1 Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence).
Ataxia - paediatric v1.32 SPTAN1 Bryony Thompson gene: SPTAN1 was added
gene: SPTAN1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 36331550
Phenotypes for gene: SPTAN1 were set to Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813
Mode of pathogenicity for gene: SPTAN1 was set to Other
Review for gene: SPTAN1 was set to GREEN
gene: SPTAN1 was marked as current diagnostic
Added comment: 15/31 individuals from 26 unrelated families carrying heterozygous variants in SPTAN1 manifested ataxia, usually with HSP. There were 2 patients with pure ataxia. Suggested that the mechanism of disease for these heterozygous variants was suspected to be dominant negative. Variable age of onset from paediatric to adult onset.
Sources: Literature
Ataxia - adult onset v1.19 SPTAN1 Bryony Thompson gene: SPTAN1 was added
gene: SPTAN1 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 36331550
Phenotypes for gene: SPTAN1 were set to Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813
Mode of pathogenicity for gene: SPTAN1 was set to Other
Review for gene: SPTAN1 was set to GREEN
gene: SPTAN1 was marked as current diagnostic
Added comment: 15/31 individuals from 26 unrelated families carrying heterozygous variants in SPTAN1 manifested ataxia, usually with HSP. There were 2 patients with pure ataxia. Suggested that the mechanism of disease for these heterozygous variants was suspected to be dominant negative. Variable age of onset from paediatric to adult onset.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.45 SPTAN1 Bryony Thompson Marked gene: SPTAN1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.45 SPTAN1 Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence).
Mendeliome v1.2335 SPTAN1 Bryony Thompson reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40023774; Phenotypes: distal myopathy MONDO:0018949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.45 SPTAN1 Bryony Thompson Phenotypes for gene: SPTAN1 were changed from distal myopathy to distal myopathy MONDO:0018949
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.44 SPTAN1 Bryony Thompson Classified gene: SPTAN1 as Green List (high evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.44 SPTAN1 Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.43 SPTAN1 Bryony Thompson gene: SPTAN1 was added
gene: SPTAN1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 40023774
Phenotypes for gene: SPTAN1 were set to distal myopathy
Review for gene: SPTAN1 was set to GREEN
gene: SPTAN1 was marked as current diagnostic
Added comment: 20 cases from 14 families with early childhood onset distal myopathy with heterozygous loss of function variants.
Sources: Literature
Prepair 1000+ v1.1566 SPATA5 Lauren Thomas reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29343804, 26299366, 27246907; Phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SMARCAL1 Lauren Thomas reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31275356, 29282041, 18356746; Phenotypes: Schimke immunoosseous dysplasia, MIM# 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC52A2 Lauren Thomas reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26973221, 22864630, 24253200; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC4A1 Lauren Thomas reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600044, 10926824; Phenotypes: Distal renal tubular acidosis 4 with hemolytic anemia, MIM# 611590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SKIV2L Lauren Thomas reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444670, 34414925, 25714577; Phenotypes: Trichohepatoenteric syndrome 2, MIM# 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SEPSECS Lauren Thomas reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 29464431, 29464431, 20920667; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SELENON Lauren Thomas reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 32796131, 11528383, 32154989; Phenotypes: Congenital myopathy 3 with rigid spine, MIM# 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SCNN1A Lauren Thomas changed review comment from: Well established gene-disease association. Childhood onset, potentially lethal salt wasting condition characterised by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Treatment for this condition involves aggressive salt replacement and control of hyperkalemia.

HGNC approved symbol/name: SCNN1A
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes, supplementary sodium, but not mineralocorticoids
Known technical challenges? No
Gene reported in 3 independent families: Yes; to: Well established gene-disease association. Childhood onset, potentially lethal salt wasting condition characterised by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Treatment for this condition involves aggressive salt replacement and control of hyperkalemia.

HGNC approved symbol/name: SCNN1A
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes, supplementary sodium, but not mineralocorticoids
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: Limited evidence for association between mono-allelic variants and disease (bronchiectasis with or without elevated sweat chloride 2, MIM# 613021; Liddle syndrome 3, MIM# 618126)
Prepair 1000+ v1.1566 SCNN1A Lauren Thomas reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23416952, 8589714, 31301676; Phenotypes: Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 RSPH4A Lauren Thomas reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19200523, 23993197, 23798057, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11, MIM# 612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PTPN23 Lauren Thomas reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947, 29899372, 29090338; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PSPH Lauren Thomas reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26589312, 27161889, 26960553; Phenotypes: Phosphoserine phosphatase deficiency , MIM# 614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.33 MKL1 Zornitza Stark Tag new gene name tag was added to gene: MKL1.
Mendeliome v1.2335 MKL1 Zornitza Stark Tag new gene name tag was added to gene: MKL1.
Prepair 1000+ v1.1566 PPT1 Lauren Thomas reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 31741823, 19793312; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v1.52 ARPC3 Zornitza Stark Publications for gene: ARPC3 were set to 36928819; 26166300
Hereditary Neuropathy_CMT - isolated v1.51 ARPC3 Zornitza Stark reviewed gene: ARPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 40011789; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.1566 POMT2 Lauren Thomas reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17923109, 24183756, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, MIM# 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.113 RBFOX3 Zornitza Stark Publications for gene: RBFOX3 were set to 35951651; 36117209; 24039908
Prepair 1000+ v1.1566 POLR3A Lauren Thomas reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31637490, 21855841, 38561452; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694, Wiedemann-Rautenstrauch syndrome, MIM# 264090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.112 RBFOX3 Zornitza Stark edited their review of gene: RBFOX3: Added comment: Two additional families identified in the GeL 100K dataset: two sibs with missense variant and one additional proband with LoF variant. However, no segregation performed.; Changed publications: 35951651, 36117209, 24039908, 40011789
Prepair 1000+ v1.1566 PLOD1 Lauren Thomas reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34161861, 33579342; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.137 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Monogenic Diabetes v0.137 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.137 UNC13A Zornitza Stark gene: UNC13A was added
gene: UNC13A was added to Monogenic Diabetes. Sources: Literature
Mode of inheritance for gene: UNC13A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UNC13A were set to 40011789
Phenotypes for gene: UNC13A were set to Monogenic diabetes, MONDO:0015967, UNC13A-related
Review for gene: UNC13A was set to RED
Added comment: Two probands in the GeL 100K dataset with LoF variants and diabetes. No segregation data available. Some supportive mouse data. LoF variants also observed in controls, leading authors to speculate regarding penetrance.
Sources: Literature
Prepair 1000+ v1.1566 PLEC Lauren Thomas changed review comment from: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D.

ClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f.

HGNC approved symbol/name: PLEC
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)
Gene reported in 3 independent families: Yes

NOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950; to: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D.

ClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f.

HGNC approved symbol/name: PLEC
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)
Gene reported in 3 independent families: Yes

NOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950
Prepair 1000+ v1.1566 PLEC Lauren Thomas changed review comment from: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D.

ClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f.

HGNC approved symbol/name: PLEC
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)
Gene reported in 3 independent families: Yes

NOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950; to: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D.

ClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f.

HGNC approved symbol/name: PLEC
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)
Gene reported in 3 independent families: Yes

NOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950
Prepair 1000+ v1.1566 PLEC Lauren Thomas reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28447722, 25556389, 32576226; Phenotypes: Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487, Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138, Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v1.13 POMK Zornitza Stark Marked gene: POMK as ready
Eye Anterior Segment Abnormalities v1.13 POMK Zornitza Stark Gene: pomk has been classified as Red List (Low Evidence).
Eye Anterior Segment Abnormalities v1.13 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Eye Anterior Segment Abnormalities. Sources: Literature
Mode of inheritance for gene: POMK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POMK were set to 40011789
Phenotypes for gene: POMK were set to Anterior segment dysgenesis, MONDO:0019503, POMK-related
Review for gene: POMK was set to RED
Added comment: 3 individuals with anterior segment dysgenesis and mono allelic variants in POMK identified. However, note variants are inherited with insufficient segregation evidence and/or present in gnomAD. Although there is supportive animal model evidence, note that biallelic POMK disease does comprise eye phenotypes.
Sources: Literature
Prepair 1000+ v1.1566 PEX6 Lauren Thomas reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8940266, 22894767; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862, Peroxisome biogenesis disorder-4B, MIM# 614863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PEPD Lauren Thomas reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32455636, 19308961, 3827281, 36757671, 16470701; Phenotypes: Prolidase deficiency, MIM# 170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 OTC Lauren Thomas reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26059767, 31441224, 25135652; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 NT5C2 Lauren Thomas reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32153630, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 NSUN2 Lauren Thomas reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541559, 22541562, 21063731; Phenotypes: Intellectual developmental disorder, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2335 MKL1 Sangavi Sivagnanasundram commented on gene: MKL1
Prepair 1000+ v1.1566 NLGN4X Lauren Thomas reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Intellectual developmental disorder, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disorders of immune dysregulation v1.10 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Disorders of immune dysregulation v1.10 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v1.10 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from Immune dysregulation to Immunodeficiency 36 MIM#616005
Disorders of immune dysregulation v1.9 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Green List (high evidence)
Disorders of immune dysregulation v1.9 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v1.8 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Disorders of immune dysregulation v1.8 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v1.8 PIK3CD Zornitza Stark Phenotypes for gene: PIK3CD were changed from Immune dysregulation to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513
Disorders of immune dysregulation v1.7 PIK3CD Zornitza Stark Classified gene: PIK3CD as Green List (high evidence)
Disorders of immune dysregulation v1.7 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.47 SLC31A1 Zornitza Stark edited their review of gene: SLC31A1: Changed phenotypes: Neurodegeneration and seizures due to copper transport defect, MIM# 620306; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.47 SLC31A1 Zornitza Stark Marked gene: SLC31A1 as ready
Metal Metabolism Disorders v0.47 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Metal Metabolism Disorders v0.47 SLC31A1 Zornitza Stark Phenotypes for gene: SLC31A1 were changed from congenital copper transport defect; seizures; neurodegeneration to Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Metal Metabolism Disorders v0.46 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Amber List (moderate evidence)
Metal Metabolism Disorders v0.46 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Metal Metabolism Disorders v0.45 SLC31A1 Zornitza Stark reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliary Dyskinesia v1.42 SCNN1G Zornitza Stark Publications for gene: SCNN1G were set to
Ciliary Dyskinesia v1.41 SCNN1G Zornitza Stark Classified gene: SCNN1G as Red List (low evidence)
Ciliary Dyskinesia v1.41 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Red List (Low Evidence).
Mendeliome v1.2335 NR5A1 Zornitza Stark Publications for gene: NR5A1 were set to 31513305
Mendeliome v1.2334 NR5A1 Zornitza Stark Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.2333 NR5A1 Zornitza Stark edited their review of gene: NR5A1: Added comment: Rare reports of sex reversal with biallelic variants (hmz). RED/AMBER for this MOI.; Changed publications: 31513305, 38650427, 20453312; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v1.8 NR5A1 Zornitza Stark Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v1.7 NR5A1 Zornitza Stark Publications for gene: NR5A1 were set to 31513305
Differences of Sex Development v1.6 NR5A1 Zornitza Stark reviewed gene: NR5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38650427, 20453312; Phenotypes: 46XY sex reversal 3, (MIM#612965); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2333 MBTPS1 Sangavi Sivagnanasundram reviewed gene: MBTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008256; Phenotypes: spondyloepiphyseal dysplasia, kondo-fu type MONDO:0032721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2333 MBD5 Sangavi Sivagnanasundram reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005344; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2333 MARS2 Sangavi Sivagnanasundram reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005338; Phenotypes: mitochondrial disease MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2333 DUOX2 Bryony Thompson Publications for gene: DUOX2 were set to 35429653; 27373512; 26301257; 28683258
Congenital hypothyroidism v0.48 DUOX2 Bryony Thompson reviewed gene: DUOX2: Rating: RED; Mode of pathogenicity: None; Publications: 27525530; Phenotypes: Congenital hypothyroidism MONDO:0018612; Mode of inheritance: Other
Congenital hypothyroidism v0.48 DUOX2 Bryony Thompson Mode of inheritance for gene: DUOX2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.47 CNTN6 Bryony Thompson Marked gene: CNTN6 as ready
Congenital hypothyroidism v0.47 CNTN6 Bryony Thompson Gene: cntn6 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.47 CNTN6 Bryony Thompson Classified gene: CNTN6 as Amber List (moderate evidence)
Congenital hypothyroidism v0.47 CNTN6 Bryony Thompson Gene: cntn6 has been classified as Amber List (Moderate Evidence).
Congenital hypothyroidism v0.46 CNTN6 Bryony Thompson gene: CNTN6 was added
gene: CNTN6 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: CNTN6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN6 were set to 38183624
Phenotypes for gene: CNTN6 were set to congenital hypothyroidism MONDO:0018612
Review for gene: CNTN6 was set to AMBER
Added comment: 2 probands with CH, 1 with a homozygous missense & 1 with compound het missense variants. Supporting in vitro functional assays.
Sources: Literature
Mendeliome v1.2332 CNTN6 Bryony Thompson Phenotypes for gene: CNTN6 were changed from Neurodevelopmental disorder, MONDO:0700092, CNTN6-related to Neurodevelopmental disorder, MONDO:0700092, CNTN6-related; congenital hypothyroidism MONDO:0018612
Mendeliome v1.2331 CNTN6 Bryony Thompson Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269
Mendeliome v1.2330 CNTN6 Bryony Thompson Mode of inheritance for gene: CNTN6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2329 CNTN6 Bryony Thompson Classified gene: CNTN6 as Amber List (moderate evidence)
Mendeliome v1.2329 CNTN6 Bryony Thompson Gene: cntn6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2328 CNTN6 Bryony Thompson reviewed gene: CNTN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 38183624; Phenotypes: congenital hypothyroidism MONDO:0018612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital hypothyroidism v0.45 DUOX1 Bryony Thompson Publications for gene: DUOX1 were set to PMID: 29650690
Congenital hypothyroidism v0.44 DUOX1 Bryony Thompson Classified gene: DUOX1 as Red List (low evidence)
Congenital hypothyroidism v0.44 DUOX1 Bryony Thompson Gene: duox1 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v0.43 DUOX1 Bryony Thompson reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: 29650690, 28633507; Phenotypes: congenital hypothyroidism MONDO:0018612; Mode of inheritance: Unknown
Mendeliome v1.2328 DUOX1 Bryony Thompson Phenotypes for gene: DUOX1 were changed from congenital hypothyroidism, No OMIM # to congenital hypothyroidism MONDO:0018612
Mendeliome v1.2327 DUOX1 Bryony Thompson Publications for gene: DUOX1 were set to 29650690
Mendeliome v1.2326 DUOX1 Bryony Thompson Classified gene: DUOX1 as Red List (low evidence)
Mendeliome v1.2326 DUOX1 Bryony Thompson Gene: duox1 has been classified as Red List (Low Evidence).
Mendeliome v1.2325 DUOX1 Bryony Thompson reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: 29650690, 28633507; Phenotypes: congenital hypothyroidism MONDO:0018612; Mode of inheritance: Unknown
Mendeliome v1.2325 DSTYK Bryony Thompson reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 23862974, 37746849, 34608560; Phenotypes: congenital anomalies of kidney and urinary tract 1 MONDO:0012561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.121 DSTYK Bryony Thompson Publications for gene: DSTYK were set to 23862974; 23862974; 28618409
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.120 DSTYK Bryony Thompson Classified gene: DSTYK as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.120 DSTYK Bryony Thompson Gene: dstyk has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119 DSTYK Bryony Thompson reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 23862974, 37746849, 34608560; Phenotypes: congenital anomalies of kidney and urinary tract 1 MONDO:0012561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2325 DSPP Bryony Thompson Publications for gene: DSPP were set to
Mendeliome v1.2324 DSG3 Bryony Thompson Publications for gene: DSG3 were set to 30528827
Epidermolysis bullosa v1.22 DSG3 Bryony Thompson Publications for gene: DSG3 were set to 30528827
Epidermolysis bullosa v1.21 DSG3 Bryony Thompson Classified gene: DSG3 as Amber List (moderate evidence)
Epidermolysis bullosa v1.21 DSG3 Bryony Thompson Gene: dsg3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v1.20 DSG3 Bryony Thompson reviewed gene: DSG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26763450, 37850634, 30528827; Phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa MONDO:0030986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2323 DSG3 Bryony Thompson Classified gene: DSG3 as Amber List (moderate evidence)
Mendeliome v1.2323 DSG3 Bryony Thompson Gene: dsg3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2322 DSG3 Bryony Thompson reviewed gene: DSG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26763450, 37850634, 30528827; Phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa MONDO:0030986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2322 DRD3 Bryony Thompson Publications for gene: DRD3 were set to 16650084; 16809426; 17339592
Mendeliome v1.2321 DRD3 Bryony Thompson Publications for gene: DRD3 were set to
Mendeliome v1.2320 DPYS Bryony Thompson Publications for gene: DPYS were set to
Mendeliome v1.2319 DPY19L2 Bryony Thompson Publications for gene: DPY19L2 were set to
Dystonia - isolated/combined v1.39 DRD2 Bryony Thompson Classified gene: DRD2 as Amber List (moderate evidence)
Dystonia - isolated/combined v1.39 DRD2 Bryony Thompson Gene: drd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2318 DRD2 Bryony Thompson Classified gene: DRD2 as Amber List (moderate evidence)
Mendeliome v1.2318 DRD2 Bryony Thompson Gene: drd2 has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v1.38 DRD2 Bryony Thompson reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36456191, 34145635, 33200438; Phenotypes: Combined dystonia, MONDO:0020065, DRD2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2317 DRD2 Bryony Thompson reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36456191, 34145635, 33200438; Phenotypes: Combined dystonia, MONDO:0020065, DRD2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2317 APOA4 Zornitza Stark Phenotypes for gene: APOA4 were changed from Hereditary amyloidosis, MONDO:0018634, APOA4-related to Hereditary amyloidosis, MONDO:0018634, APOA4-related; Tubulointerstitial kidney disease, autosomal dominant 6, MIM# 621106
Mendeliome v1.2316 APOA4 Zornitza Stark edited their review of gene: APOA4: Changed phenotypes: Hereditary amyloidosis, MONDO:0018634, APOA4-related, Tubulointerstitial kidney disease, autosomal dominant 6, MIM# 621106
Amyloidosis v0.32 APOA4 Zornitza Stark Phenotypes for gene: APOA4 were changed from Hereditary amyloidosis, MONDO:0018634, APOA4-related to Hereditary amyloidosis, MONDO:0018634, APOA4-related; Tubulointerstitial kidney disease, autosomal dominant 6, MIM# 621106
Metal Metabolism Disorders v0.45 SLC31A1 Himanshu Goel gene: SLC31A1 was added
gene: SLC31A1 was added to Metal Metabolism Disorders. Sources: Literature
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to 35913762, 36562171
Phenotypes for gene: SLC31A1 were set to congenital copper transport defect; seizures; neurodegeneration
Penetrance for gene: SLC31A1 were set to Complete
Review for gene: SLC31A1 was set to GREEN
gene: SLC31A1 was marked as current diagnostic
Added comment: Sources: Literature
Disorders of immune dysregulation v1.6 PIK3CD Peter McNaughton gene: PIK3CD was added
gene: PIK3CD was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: PIK3CD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIK3CD were set to PMID: 37600808
Phenotypes for gene: PIK3CD were set to Immune dysregulation
Review for gene: PIK3CD was set to GREEN
Added comment: Currently included in predominantly antibody deficiency and CVID panels - patients frequently present with features of immune dysregulation eg. autoimmunity and lymphoproliferation.
Sources: Literature
Disorders of immune dysregulation v1.6 PIK3R1 Peter McNaughton gene: PIK3R1 was added
gene: PIK3R1 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to PMID: 37600808
Phenotypes for gene: PIK3R1 were set to Immune dysregulation
Review for gene: PIK3R1 was set to GREEN
Added comment: Currently included in predominantly antibody deficiency and CVID panels - patients frequently present with features of immune dysregulation eg. autoimmunity and lymphoproliferation.
Sources: Literature
Neuromuscular Superpanel v3.354 Zornitza Stark Changed child panels to: Hereditary Spastic Paraplegia - paediatric; Muscular dystrophy and myopathy_Paediatric; Hereditary Neuropathy_CMT - isolated; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Ataxia - paediatric; Motor Neurone Disease; Gastrointestinal neuromuscular disease; Rhabdomyolysis and Metabolic Myopathy; Hereditary Neuropathy - complex; Ataxia - adult onset; Hereditary Spastic Paraplegia - adult onset; Congenital Myasthenia; Skeletal Muscle Channelopathies; Arthrogryposis
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.340 DAP3 Zornitza Stark Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 DAP3 Zornitza Stark edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101
Deafness_IsolatedAndComplex v1.211 DAP3 Zornitza Stark Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101
Deafness_IsolatedAndComplex v1.210 DAP3 Zornitza Stark edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101
Mitochondrial disease v0.970 DAP3 Zornitza Stark Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101
Mitochondrial disease v0.969 DAP3 Zornitza Stark edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101
Mendeliome v1.2316 DAP3 Zornitza Stark Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101
Mendeliome v1.2315 DAP3 Zornitza Stark edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101
Defects of intrinsic and innate immunity v1.20 IRF4 Zornitza Stark Marked gene: IRF4 as ready
Defects of intrinsic and innate immunity v1.20 IRF4 Zornitza Stark Gene: irf4 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v1.20 IRF4 Zornitza Stark Phenotypes for gene: IRF4 were changed from combined immunodeficiency MONDO:0015131 to Immunodeficiency 131, MIM# 621097
Combined Immunodeficiency v1.115 IRF4 Zornitza Stark Phenotypes for gene: IRF4 were changed from Combined immunodeficiency, MONDO:0015131, IRF4-related to Immunodeficiency 131, MIM# 621097
Mendeliome v1.2315 IRF4 Zornitza Stark Phenotypes for gene: IRF4 were changed from Combined immunodeficiency, MONDO:0015131, IRF4-related to Immunodeficiency 131, MIM# 621097
Mendeliome v1.2314 IRF4 Zornitza Stark edited their review of gene: IRF4: Changed phenotypes: Immunodeficiency 131, MIM# 621097
Mendeliome v1.2314 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 to Immunodeficiency 132B, MIM# 621096
Mendeliome v1.2313 TRAF3 Zornitza Stark edited their review of gene: TRAF3: Changed phenotypes: Immunodeficiency 132B, MIM# 621096
Disorders of immune dysregulation v1.6 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome to Immunodeficiency 132B, MIM# 621096
Disorders of immune dysregulation v1.5 TRAF3 Zornitza Stark edited their review of gene: TRAF3: Changed phenotypes: Immunodeficiency 132B, MIM# 621096
Cancer Predisposition_Paediatric v0.131 SH2B3 Zornitza Stark edited their review of gene: SH2B3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.131 SH2B3 Zornitza Stark reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related; Mode of inheritance: None
Mendeliome v1.2313 SH2B3 Zornitza Stark Phenotypes for gene: SH2B3 were changed from Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related
Bone Marrow Failure v1.113 SH2B3 Zornitza Stark Phenotypes for gene: SH2B3 were changed from Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related
Intellectual disability syndromic and non-syndromic v1.66 C12orf66 Zornitza Stark Phenotypes for gene: C12orf66 were changed from complex neurodevelopmental disorder MONDO:0100038 to Intellectual developmental disorder, autosomal recessive 83, MIM# 621100
Intellectual disability syndromic and non-syndromic v1.65 C12orf66 Zornitza Stark Publications for gene: C12orf66 were set to
Intellectual disability syndromic and non-syndromic v1.64 C12orf66 Zornitza Stark edited their review of gene: C12orf66: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 83, MIM# 621100; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.112 C12orf66 Zornitza Stark Phenotypes for gene: C12orf66 were changed from Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal recessive 83, MIM# 621100
Genetic Epilepsy v1.111 C12orf66 Zornitza Stark edited their review of gene: C12orf66: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 83, MIM# 621100; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2312 C12orf66 Zornitza Stark Phenotypes for gene: C12orf66 were changed from complex neurodevelopmental disorder MONDO:0100038 to Intellectual developmental disorder, autosomal recessive 83, MIM# 621100
Mendeliome v1.2311 C12orf66 Zornitza Stark Publications for gene: C12orf66 were set to
Mendeliome v1.2310 C12orf66 Zornitza Stark edited their review of gene: C12orf66: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 83, MIM# 621100; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v1.38 ARFGEF3 Zornitza Stark Classified gene: ARFGEF3 as Amber List (moderate evidence)
Dystonia - isolated/combined v1.38 ARFGEF3 Zornitza Stark Gene: arfgef3 has been classified as Amber List (Moderate Evidence).
Dystonia - isolated/combined v1.37 ARFGEF3 Zornitza Stark reviewed gene: ARFGEF3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2310 ARFGEF3 Zornitza Stark Classified gene: ARFGEF3 as Amber List (moderate evidence)
Mendeliome v1.2310 ARFGEF3 Zornitza Stark Gene: arfgef3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2309 ERBB4 Zornitza Stark Classified gene: ERBB4 as Amber List (moderate evidence)
Mendeliome v1.2309 ERBB4 Zornitza Stark Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2308 ZFHX3 Zornitza Stark Phenotypes for gene: ZFHX3 were changed from Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related; developmental and epileptic encephalopathy MONDO:0100062, ZFHX3-related
Mendeliome v1.2307 ZFHX3 Zornitza Stark Mode of inheritance for gene: ZFHX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.2306 ZFHX3 Zornitza Stark edited their review of gene: ZFHX3: Added comment: PMID 38508705: 8 unrelated probands with biallelic variants and a phenotype consistent with DEE and childhood partial epilepsy. Also a supporting Drosophila Zfh2 knockdown model with seizure-like behaviour.; Changed publications: 37292950, 38508705; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related, developmental and epileptic encephalopathy MONDO:0100062, ZFHX3-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.111 RYR3 Zornitza Stark Phenotypes for gene: RYR3 were changed from undetermined early-onset epileptic encephalopathy (MONDO:0018614) to Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related
Genetic Epilepsy v1.110 RYR3 Zornitza Stark Classified gene: RYR3 as Red List (low evidence)
Genetic Epilepsy v1.110 RYR3 Zornitza Stark Gene: ryr3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.109 RYR3 Zornitza Stark edited their review of gene: RYR3: Added comment: LIMITED by ClinGEN for epilepsy.; Changed rating: RED; Changed phenotypes: Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related
Mendeliome v1.2306 RYR3 Zornitza Stark Classified gene: RYR3 as Red List (low evidence)
Mendeliome v1.2306 RYR3 Zornitza Stark Gene: ryr3 has been classified as Red List (Low Evidence).
Mendeliome v1.2305 RYR3 Zornitza Stark changed review comment from: DISPUTED by ClinGen; to: DISPUTED by ClinGen for myopathy. LIMITED for epilepsy.
Mendeliome v1.2305 RYR3 Zornitza Stark edited their review of gene: RYR3: Added comment: DISPUTED by ClinGen; Changed rating: RED
Arthrogryposis v0.417 SELENON Zornitza Stark Mode of inheritance for gene: SELENON was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2305 SELENON Zornitza Stark Mode of inheritance for gene: SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2304 SELENON Zornitza Stark edited their review of gene: SELENON: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v1.31 EEFSEC Zornitza Stark Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Ataxia - paediatric v1.30 EEFSEC Zornitza Stark edited their review of gene: EEFSEC: Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Intellectual disability syndromic and non-syndromic v1.64 EEFSEC Zornitza Stark Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Intellectual disability syndromic and non-syndromic v1.63 EEFSEC Zornitza Stark edited their review of gene: EEFSEC: Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Regression v0.573 EEFSEC Zornitza Stark Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Regression v0.572 EEFSEC Zornitza Stark edited their review of gene: EEFSEC: Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Genetic Epilepsy v1.109 EEFSEC Zornitza Stark Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Mendeliome v1.2304 EEFSEC Zornitza Stark Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Cerebellar and Pontocerebellar Hypoplasia v1.78 EEFSEC Zornitza Stark Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM# 621102
Cerebellar and Pontocerebellar Hypoplasia v1.77 EEFSEC Zornitza Stark edited their review of gene: EEFSEC: Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM# 621102
Mendeliome v1.2303 ALG5 Monique Dunstan reviewed gene: ALG5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: k,jsvz k,ajwbSCNZ, jqHABWDSCZ, ,JHqabwmsc; Mode of inheritance: None
Mendeliome v1.2303 HAT1 Monique Dunstan Added comment: Comment on phenotypes: wkaesdC
esjhdbcmzx
Mendeliome v1.2303 HAT1 Monique Dunstan Phenotypes for gene: HAT1 were changed from sajhavscz to sajhavscz
Mendeliome v1.2302 HAT1 Monique Dunstan Tag STR tag was added to gene: HAT1.
Tag refuted tag was added to gene: HAT1.
Mendeliome v1.2302 ABCB4 Katrina Bell Tag SV/CNV tag was added to gene: ABCB4.
Mendeliome v1.2302 HAT1 Monique Dunstan gene: HAT1 was added
gene: HAT1 was added to Mendeliome. Sources: UKGTN
SV/CNV tags were added to gene: HAT1.
Mode of inheritance for gene: HAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: HAT1 were set to PMID:716253
Phenotypes for gene: HAT1 were set to sajhavscz
Penetrance for gene: HAT1 were set to Complete
Mode of pathogenicity for gene: HAT1 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: HAT1 was set to AMBER
Added comment: mjsfgzdckz.x,n efks.dzjhk. liuksweF<KDCjz lukESABJFC
Sources: UKGTN
Mendeliome v1.2301 ABCA1 Katrina Bell Tag somatic tag was added to gene: ABCA1.
Tag 5'UTR tag was added to gene: ABCA1.
Mendeliome v1.2301 ABCA1 Katrina Bell reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: X VX; Phenotypes: Campomelic dysplasia with autosomal sex reversal 114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.2301 ACBD6 Katrina Bell Tag somatic tag was added to gene: ACBD6.
Mendeliome v1.2301 ACBD6 Katrina Bell reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: SZ C; Phenotypes: CA; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.2301 ABCB6 Katrina Bell reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Campomelic dysplasia with autosomal sex reversal 114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42 HSPB8 Zornitza Stark Phenotypes for gene: HSPB8 were changed from autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 to Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078; autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.41 HSPB8 Zornitza Stark edited their review of gene: HSPB8: Changed phenotypes: Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078, Distal myopathy, Vacuolar myopathy, Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Mendeliome v1.2301 HSPB8 Zornitza Stark Phenotypes for gene: HSPB8 were changed from Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673 to Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078; Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Mendeliome v1.2300 HSPB8 Zornitza Stark edited their review of gene: HSPB8: Changed phenotypes: Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078, Distal myopathy, Vacuolar myopathy, Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Early-onset Dementia v1.29 ANXA11 Bryony Thompson Marked gene: ANXA11 as ready
Early-onset Dementia v1.29 ANXA11 Bryony Thompson Gene: anxa11 has been classified as Green List (High Evidence).
Early-onset Dementia v1.29 ANXA11 Bryony Thompson Classified gene: ANXA11 as Green List (high evidence)
Early-onset Dementia v1.29 ANXA11 Bryony Thompson Gene: anxa11 has been classified as Green List (High Evidence).
Early-onset Dementia v1.28 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 36458208; 39755715; 38896345; 38896262
Phenotypes for gene: ANXA11 were set to amyotrophic lateral sclerosis type 23 MONDO:0027694
Mode of pathogenicity for gene: ANXA11 was set to Other
Review for gene: ANXA11 was set to GREEN
gene: ANXA11 was marked as current diagnostic
Added comment: FTD can be a feature of the condition. ANXA11 is classified as a multisystem proteinopathy gene. Gain-of-function is the mechanism of disease.
Sources: Literature
Mendeliome v1.2300 CLCA2 Bryony Thompson Marked gene: CLCA2 as ready
Mendeliome v1.2300 CLCA2 Bryony Thompson Gene: clca2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2300 CLCA2 Bryony Thompson Classified gene: CLCA2 as Amber List (moderate evidence)
Mendeliome v1.2300 CLCA2 Bryony Thompson Gene: clca2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2299 CLCA2 Bryony Thompson gene: CLCA2 was added
gene: CLCA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCA2 were set to 31326550
Phenotypes for gene: CLCA2 were set to heart conduction disease MONDO:0000992
Review for gene: CLCA2 was set to AMBER
Added comment: Only a single family reported. A missense (p.Trp575Cys) segregates with conduction disease in 5 individuals from a large Chinese family. Electrocardiogram monitoring of mice with missense introduced induced mild conduction block and ectopic pacemakers.
Sources: Literature
Prepair 1000+ v1.1566 TCN2 Andrew Coventry reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19373259, 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency MIM#275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TBCK Andrew Coventry reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040691, 30591081, 35095425, 36317458; Phenotypes: Syndromic complex neurodevelopmental disorder MONDO:0800439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 STRADA Andrew Coventry reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17522105, 27170158, 33605605; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 STAT1 Andrew Coventry reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12590259, 16585605, 20841510, 31512162, 27117246, 21772053, 32603902; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796, Immunodeficiency 31B MONDO:0013427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SSR4 Andrew Coventry reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 4218363, 26264460, 33300232, 38805916; Phenotypes: Congenital disorder of glycosylation, type Iy MIM#300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 SLC6A5 Andrew Coventry changed review comment from: Affected individuals cab present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771).
Well established gene-disease association, especially for bi-allelic variants, including animal model.

AD association also reported, however, limited evidence in literature for mono-allelic cause of disease.; to: Affected individuals can present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771).
Well established gene-disease association, especially for bi-allelic variants, including animal model.

AD association also reported, however, limited evidence in literature for mono-allelic cause of disease.
Prepair 1000+ v1.1566 SLC6A5 Andrew Coventry reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3 MIM#614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC26A3 Andrew Coventry reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhea 1, secretory chloride, congenital MIM#214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SIL1 Andrew Coventry reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977, 20301371, 16282978; Phenotypes: Marinesco-Sjogren syndrome MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SERPINH1 Andrew Coventry reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343, 25510505, 31179625, 29520608, 33524049; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848, Osteogenesis imperfecta type 10, MONDO:0013459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 OPHN1 Andrew Coventry reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12807966, 16221952, 16221952, 29510240, 12807966, 16158428, 25649377, 24105372; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486, X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1566 NHS Andrew Coventry reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737, 14564667, 18949062; Phenotypes: Nance-Horan syndrome MIM#302350, Cataract 40, X-linked MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1566 NEK8 Andrew Coventry reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18199800, 26697755, 26862157, 26967905, 12421721, 18235101, 23274954, 23793029; Phenotypes: Renal-hepatic-pancreatic dysplasia 2 MIM#615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PRDM5 Zornitza Stark Marked gene: PRDM5 as ready
Prepair 1000+ v1.1566 PRDM5 Zornitza Stark Gene: prdm5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1566 PRDM5 Zornitza Stark Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170 (3) to Brittle cornea syndrome 2, MIM#614170
Prepair 1000+ v1.1565 PRDM5 Zornitza Stark Publications for gene: PRDM5 were set to
Prepair 1000+ v1.1564 PIGV Zornitza Stark Marked gene: PIGV as ready
Prepair 1000+ v1.1564 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Prepair 1000+ v1.1564 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from Hyperphosphatasia with mental retardation syndrome 1, 239300 (3) to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Prepair 1000+ v1.1563 PIGV Zornitza Stark Publications for gene: PIGV were set to
Prepair 1000+ v1.1562 TRAPPC6B Zornitza Stark Tag for review tag was added to gene: TRAPPC6B.
Prepair 1000+ v1.1562 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Prepair 1000+ v1.1562 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1562 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from Mental retardation, autosomal recessive 13, 613192 (3) to Intellectual developmental disorder, autosomal recessive 13 MIM#613192
Prepair 1000+ v1.1561 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Prepair 1000+ v1.1560 UPF3B Zornitza Stark Marked gene: UPF3B as ready
Prepair 1000+ v1.1560 UPF3B Zornitza Stark Gene: upf3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1560 UPF3B Zornitza Stark Phenotypes for gene: UPF3B were changed from Mental retardation, X-linked, syndromic 14, 300676 (3) to Intellectual developmental disorder, X-linked syndromic 14 MIM#300676
Prepair 1000+ v1.1559 UPF3B Zornitza Stark Publications for gene: UPF3B were set to
Prepair 1000+ v1.1558 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Prepair 1000+ v1.1558 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1558 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) to Neuropathy, hereditary sensory and autonomic, type II MIM#201300
Prepair 1000+ v1.1557 WNK1 Zornitza Stark Publications for gene: WNK1 were set to
Prepair 1000+ v1.1556 WNT7A Zornitza Stark Marked gene: WNT7A as ready
Prepair 1000+ v1.1556 WNT7A Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1556 WNT7A Zornitza Stark Phenotypes for gene: WNT7A were changed from Ulna and fibula, absence of, with severe limb deficiency, 276820 (3) to Fuhrmann syndrome MIM#228930; Ulna and fibula, absence of, with severe limb deficiency MIM#276820
Prepair 1000+ v1.1555 WNT7A Zornitza Stark Publications for gene: WNT7A were set to
Prepair 1000+ v1.1554 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Prepair 1000+ v1.1554 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1554 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from Selective T-cell defect, 269840 (3) to Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006; Immunodeficiency 48 MIM#269840
Prepair 1000+ v1.1553 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Prepair 1000+ v1.1552 ZC4H2 Zornitza Stark Marked gene: ZC4H2 as ready
Prepair 1000+ v1.1552 ZC4H2 Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1552 ZC4H2 Zornitza Stark Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome, 314580 (3) to Wieacker-Wolff syndrome MIM#314580
Prepair 1000+ v1.1551 ZC4H2 Zornitza Stark Publications for gene: ZC4H2 were set to
Prepair 1000+ v1.1550 ZC4H2 Zornitza Stark Mode of inheritance for gene: ZC4H2 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)
Prepair 1000+ v1.1549 TK2 Zornitza Stark Marked gene: TK2 as ready
Prepair 1000+ v1.1549 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1549 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) to Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560
Prepair 1000+ v1.1548 TK2 Zornitza Stark Publications for gene: TK2 were set to
Prepair 1000+ v1.1547 IL17RA Zornitza Stark Marked gene: IL17RA as ready
Prepair 1000+ v1.1547 IL17RA Zornitza Stark Gene: il17ra has been classified as Green List (High Evidence).
Prepair 1000+ v1.1547 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from Immunodeficiency 51, 613953 (3), Autosomal recessive to Immunodeficiency 51, MIM #613953
Prepair 1000+ v1.1546 IL17RA Zornitza Stark Publications for gene: IL17RA were set to
Prepair 1000+ v1.1545 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Prepair 1000+ v1.1545 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1545 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from Multiple mitochondrial dysfunctions syndrome 4, 616370 (3) to Multiple mitochondrial dysfunctions syndrome 4, MIM #616370
Prepair 1000+ v1.1544 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Prepair 1000+ v1.1543 SBDS Zornitza Stark Marked gene: SBDS as ready
Prepair 1000+ v1.1543 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Prepair 1000+ v1.1543 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from Shwachman-Diamond syndrome, 260400 (3) to Shwachman-Diamond syndrome, MIM#260400
Prepair 1000+ v1.1542 SBDS Zornitza Stark Publications for gene: SBDS were set to
Prepair 1000+ v1.1541 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Prepair 1000+ v1.1541 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1541 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive to Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146
Prepair 1000+ v1.1540 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Prepair 1000+ v1.1539 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Prepair 1000+ v1.1539 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1539 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from Mental retardation syndrome, X-linked, Siderius type, 300263 (3) to Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM#300263
Prepair 1000+ v1.1538 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Prepair 1000+ v1.1537 ITGA3 Zornitza Stark Tag for review tag was added to gene: ITGA3.
Prepair 1000+ v1.1537 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Prepair 1000+ v1.1537 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1537 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from Mental retardation, X-linked 21/34, 300143 (3) to Intellectual developmental disorder, X-linked 21, MIM#300143
Prepair 1000+ v1.1536 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Prepair 1000+ v1.1535 KIF1C Zornitza Stark Marked gene: KIF1C as ready
Prepair 1000+ v1.1535 KIF1C Zornitza Stark Gene: kif1c has been classified as Green List (High Evidence).
Prepair 1000+ v1.1535 KIF1C Zornitza Stark Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive, 611302 (3) to Spastic ataxia 2, autosomal recessive, MIM#611302
Prepair 1000+ v1.1534 KIF1C Zornitza Stark Publications for gene: KIF1C were set to
Prepair 1000+ v1.1533 SGCB Zornitza Stark Marked gene: SGCB as ready
Prepair 1000+ v1.1533 SGCB Zornitza Stark Gene: sgcb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1533 SGCB Zornitza Stark Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E, 604286 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
Intellectual disability syndromic and non-syndromic v1.63 HECTD1 Zornitza Stark Marked gene: HECTD1 as ready
Intellectual disability syndromic and non-syndromic v1.63 HECTD1 Zornitza Stark Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.108 HECTD1 Zornitza Stark Marked gene: HECTD1 as ready
Genetic Epilepsy v1.108 HECTD1 Zornitza Stark Gene: hectd1 has been classified as Green List (High Evidence).
Mendeliome v1.2298 HECTD1 Zornitza Stark Marked gene: HECTD1 as ready
Mendeliome v1.2298 HECTD1 Zornitza Stark Gene: hectd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1532 POU1F1 Zornitza Stark Marked gene: POU1F1 as ready
Prepair 1000+ v1.1532 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1532 POU1F1 Zornitza Stark Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, combined, 1, 613038 (3) to Pituitary hormone deficiency, combined or isolated, 1, MIM#613038
Prepair 1000+ v1.1531 POU1F1 Zornitza Stark Publications for gene: POU1F1 were set to
Prepair 1000+ v1.1530 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Prepair 1000+ v1.1530 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1530 TELO2 Zornitza Stark Phenotypes for gene: TELO2 were changed from You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive to You-Hoover-Fong syndrome, MIM#616954
Prepair 1000+ v1.1529 TELO2 Zornitza Stark Publications for gene: TELO2 were set to
Intellectual disability syndromic and non-syndromic v1.63 ARHGEF40 Zornitza Stark Marked gene: ARHGEF40 as ready
Intellectual disability syndromic and non-syndromic v1.63 ARHGEF40 Zornitza Stark Gene: arhgef40 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.63 ARHGEF40 Zornitza Stark Classified gene: ARHGEF40 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.63 ARHGEF40 Zornitza Stark Gene: arhgef40 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.62 ARHGEF40 Zornitza Stark reviewed gene: ARHGEF40: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2298 ARHGEF40 Zornitza Stark Marked gene: ARHGEF40 as ready
Mendeliome v1.2298 ARHGEF40 Zornitza Stark Gene: arhgef40 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2298 ARHGEF40 Zornitza Stark Classified gene: ARHGEF40 as Amber List (moderate evidence)
Mendeliome v1.2298 ARHGEF40 Zornitza Stark Gene: arhgef40 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2297 ARHGEF40 Zornitza Stark reviewed gene: ARHGEF40: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.1528 SLC4A4 Cassandra Muller reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545938, 15085340, 15471865; Phenotypes: Proximal renal tubular acidosis-ocular anomaly syndrome, 604278 (3); Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v1.62 C12orf66 Zornitza Stark Marked gene: C12orf66 as ready
Intellectual disability syndromic and non-syndromic v1.62 C12orf66 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved gene name is KICS2
Intellectual disability syndromic and non-syndromic v1.62 C12orf66 Zornitza Stark Gene: c12orf66 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.62 C12orf66 Zornitza Stark Tag new gene name tag was added to gene: C12orf66.
Mendeliome v1.2297 C12orf66 Zornitza Stark Marked gene: C12orf66 as ready
Mendeliome v1.2297 C12orf66 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: KICS2
Mendeliome v1.2297 C12orf66 Zornitza Stark Gene: c12orf66 has been classified as Green List (High Evidence).
Mendeliome v1.2297 C12orf66 Zornitza Stark Tag new gene name tag was added to gene: C12orf66.
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Marked gene: C12orf66 as ready
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is KICS2
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Gene: c12orf66 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.108 C12orf66 Zornitza Stark Tag new gene name tag was added to gene: C12orf66.
Prepair 1000+ v1.1528 TMCO1 Zornitza Stark Marked gene: TMCO1 as ready
Prepair 1000+ v1.1528 TMCO1 Zornitza Stark Gene: tmco1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1528 TMCO1 Zornitza Stark Phenotypes for gene: TMCO1 were changed from Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3) to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980
Prepair 1000+ v1.1527 TMCO1 Zornitza Stark Publications for gene: TMCO1 were set to
Prepair 1000+ v1.1526 TULP1 Zornitza Stark Marked gene: TULP1 as ready
Prepair 1000+ v1.1526 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1526 TULP1 Zornitza Stark Phenotypes for gene: TULP1 were changed from Retinitis pigmentosa 14, 600132 (3) to Leber congenital amaurosis 15, MIM#613843; Retinitis pigmentosa 14, MIM#600132
Prepair 1000+ v1.1525 TULP1 Zornitza Stark Publications for gene: TULP1 were set to
Prepair 1000+ v1.1524 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Prepair 1000+ v1.1524 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1524 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from Burn-McKeown syndrome, 608572 (3) to Burn-McKeown syndrome, MIM#608572
Prepair 1000+ v1.1523 TXNL4A Zornitza Stark Publications for gene: TXNL4A were set to
Prepair 1000+ v1.1522 SYN1 Zornitza Stark reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1522 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Prepair 1000+ v1.1522 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1522 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) to Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491; Intellectual developmental disorder, X-linked 50, MIM#300115
Prepair 1000+ v1.1521 SYN1 Zornitza Stark Publications for gene: SYN1 were set to
Prepair 1000+ v1.1520 TYR Zornitza Stark Marked gene: TYR as ready
Prepair 1000+ v1.1520 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1520 TYR Zornitza Stark Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA, 203100 (3) to Oculocutaneous albinism type 1 (MONDO:0018135); Albinism, oculocutaneous, type IA, MIM#203100; Albinism, oculocutaneous, type IB, MIM#606952
Prepair 1000+ v1.1519 TYR Zornitza Stark Publications for gene: TYR were set to
Prepair 1000+ v1.1518 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Prepair 1000+ v1.1518 UBA5 Zornitza Stark Gene: uba5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1518 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive to Developmental and epileptic encephalopathy 44, MIM#617132
Prepair 1000+ v1.1517 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Prepair 1000+ v1.1516 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Prepair 1000+ v1.1516 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Prepair 1000+ v1.1516 UNC13D Zornitza Stark Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
Prepair 1000+ v1.1515 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Mandibulofacial Acrofacial dysostosis v1.12 SHROOM3 Zornitza Stark Marked gene: SHROOM3 as ready
Mandibulofacial Acrofacial dysostosis v1.12 SHROOM3 Zornitza Stark Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1514 SLC25A13 Cassandra Muller Deleted their comment
Prepair 1000+ v1.1514 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: AMBER
Prepair 1000+ v1.1514 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Prepair 1000+ v1.1514 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1514 MYO7A Zornitza Stark Phenotypes for gene: MYO7A were changed from Usher syndrome, type 1B, 276900 (3) to Usher syndrome, type 1B, MIM# 276900
Prepair 1000+ v1.1513 MYO7A Zornitza Stark Publications for gene: MYO7A were set to
Prepair 1000+ v1.1512 SLC33A1 Cassandra Muller reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22243965, 27306358, 35999711; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1512 VKORC1 Zornitza Stark Tag for review tag was added to gene: VKORC1.
Prepair 1000+ v1.1512 WAS Zornitza Stark reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1512 WAS Zornitza Stark Marked gene: WAS as ready
Prepair 1000+ v1.1512 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Prepair 1000+ v1.1512 WAS Zornitza Stark Phenotypes for gene: WAS were changed from Wiskott-Aldrich syndrome, 301000 (3) to Neutropenia, severe congenital, X-linked, MIM#300299; Thrombocytopenia, X-linked, MIM#313900; Wiskott-Aldrich syndrome, MIM#301000
Prepair 1000+ v1.1511 WAS Zornitza Stark Publications for gene: WAS were set to
Prepair 1000+ v1.1510 WRN Zornitza Stark Marked gene: WRN as ready
Prepair 1000+ v1.1510 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1510 WRN Zornitza Stark Phenotypes for gene: WRN were changed from Werner syndrome, 277700 (3) to Werner syndrome, MIM#277700
Prepair 1000+ v1.1509 WRN Zornitza Stark Publications for gene: WRN were set to
Prepair 1000+ v1.1508 WRN Zornitza Stark reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Prepair 1000+ v1.1507 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Prepair 1000+ v1.1506 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Prepair 1000+ v1.1506 ABCA4 Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1506 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Prepair 1000+ v1.1506 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1506 ACSF3 Zornitza Stark Publications for gene: ACSF3 were set to
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) to Myoclonic epilepsy of Lafora 2, MIM# 620681
Prepair 1000+ v1.1504 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Prepair 1000+ v1.1503 UQCRC2 Zornitza Stark Tag for review tag was added to gene: UQCRC2.
Prepair 1000+ v1.1503 ZIC3 Marta Cifuentes Ochoa reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29442328, 27406248, 20452998; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607), VACTERL association, X-linked, MIM# 314390, MONDO:0010752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1503 KNL1 Zornitza Stark Marked gene: KNL1 as ready
Prepair 1000+ v1.1503 KNL1 Zornitza Stark Gene: knl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1503 KNL1 Zornitza Stark Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive, 604321 (3) to Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437
Prepair 1000+ v1.1502 KNL1 Zornitza Stark Publications for gene: KNL1 were set to
Prepair 1000+ v1.1501 KRT5 Zornitza Stark Marked gene: KRT5 as ready
Prepair 1000+ v1.1501 KRT5 Zornitza Stark Gene: krt5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1501 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301360, 21424115, 11343052, 11281457; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1501 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from EEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599 to Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599
Prepair 1000+ v1.1500 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to EEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599
Prepair 1000+ v1.1499 KRT5 Zornitza Stark Publications for gene: KRT5 were set to
Prepair 1000+ v1.1498 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Prepair 1000+ v1.1498 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1498 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786
Prepair 1000+ v1.1497 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1497 PKD1L1 Zornitza Stark Tag for review tag was added to gene: PKD1L1.
Prepair 1000+ v1.1497 SH3PXD2B Zornitza Stark Marked gene: SH3PXD2B as ready
Prepair 1000+ v1.1497 SH3PXD2B Zornitza Stark Gene: sh3pxd2b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1497 SH3PXD2B Zornitza Stark Phenotypes for gene: SH3PXD2B were changed from Frank-ter Haar syndrome, 249420 (3) to Frank-ter Haar syndrome, MIM#249420
Prepair 1000+ v1.1496 SLC25A13 Cassandra Muller Deleted their review
Prepair 1000+ v1.1496 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: GREEN
Prepair 1000+ v1.1496 SH3PXD2B Zornitza Stark Publications for gene: SH3PXD2B were set to
Prepair 1000+ v1.1495 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Prepair 1000+ v1.1495 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1495 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18, 614815 (3) to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; MONDO:0009794
Prepair 1000+ v1.1494 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Prepair 1000+ v1.1493 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 11281457, 11343052, 12424587; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1493 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Prepair 1000+ v1.1493 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1493 TMTC3 Zornitza Stark Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, 617255 (3), Autosomal recessive to Lissencephaly 8 MIM#617255, MONDO:0014992
Prepair 1000+ v1.1492 TMTC3 Zornitza Stark Publications for gene: TMTC3 were set to
Prepair 1000+ v1.1491 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Prepair 1000+ v1.1491 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1491 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165
Prepair 1000+ v1.1490 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Prepair 1000+ v1.1489 TRMU Zornitza Stark Marked gene: TRMU as ready
Prepair 1000+ v1.1489 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Prepair 1000+ v1.1489 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from Liver failure, transient infantile, 613070 (3) to Liver failure, transient infantile MIM# 613070; acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111
Prepair 1000+ v1.1488 TRMU Zornitza Stark Publications for gene: TRMU were set to
Prepair 1000+ v1.1487 SLC12A1 Zornitza Stark Marked gene: SLC12A1 as ready
Prepair 1000+ v1.1487 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1487 SLC12A1 Zornitza Stark Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1, 601678 (3) to Bartter syndrome, type 1, MIM#601678
Prepair 1000+ v1.1486 SLC12A1 Zornitza Stark Publications for gene: SLC12A1 were set to
Prepair 1000+ v1.1485 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Prepair 1000+ v1.1485 UPB1 Zornitza Stark Gene: upb1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1485 UPB1 Zornitza Stark Publications for gene: UPB1 were set to 24526388
Prepair 1000+ v1.1484 UPB1 Zornitza Stark Phenotypes for gene: UPB1 were changed from Beta-ureidopropionase deficiency, MIM #613161 to Beta-ureidopropionase deficiency, MIM# 613161; MONDO:0013164
Prepair 1000+ v1.1483 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Prepair 1000+ v1.1483 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1483 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from Encephalopathy, neonatal severe, 300673 (3) to Encephalopathy, neonatal severe MIM#300673; Intellectual developmental disorder, X-linked syndromic 13 MIM#300055; Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260
Prepair 1000+ v1.1482 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 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)
Prepair 1000+ v1.1481 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Prepair 1000+ v1.1480 UROS Zornitza Stark Marked gene: UROS as ready
Prepair 1000+ v1.1480 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Prepair 1000+ v1.1480 UROS Zornitza Stark Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic, 263700 (3) to Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902
Prepair 1000+ v1.1479 UROS Zornitza Stark Publications for gene: UROS were set to
Prepair 1000+ v1.1478 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Prepair 1000+ v1.1478 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1478 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) to Thiamine-responsive megaloblastic anaemia syndrome, MIM#249270
Prepair 1000+ v1.1477 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Prepair 1000+ v1.1476 WDR81 Marta Cifuentes Ochoa reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 21885617, 33724704; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430, Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1476 MED23 Zornitza Stark Marked gene: MED23 as ready
Prepair 1000+ v1.1476 MED23 Zornitza Stark Gene: med23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1476 MED23 Zornitza Stark Phenotypes for gene: MED23 were changed from Mental retardation, autosomal recessive 18, 614249 (3) to Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249
Prepair 1000+ v1.1475 MED23 Zornitza Stark Publications for gene: MED23 were set to
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Marked gene: MFSD2A as ready
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486
Prepair 1000+ v1.1473 MFSD2A Zornitza Stark Publications for gene: MFSD2A were set to
Prepair 1000+ v1.1472 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Prepair 1000+ v1.1472 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1472 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Prepair 1000+ v1.1471 SLC19A3 Zornitza Stark Publications for gene: SLC19A3 were set to
Prepair 1000+ v1.1470 MKKS Zornitza Stark Marked gene: MKKS as ready
Prepair 1000+ v1.1470 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Prepair 1000+ v1.1470 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from McKusick-Kaufman syndrome, 236700 (3) to Bardet-Biedl syndrome 6 MIM#605231; McKusick-Kaufman syndrome MIM#236700; MKKS-related ciliopathy MONDO:1040050
Prepair 1000+ v1.1469 MKKS Zornitza Stark Publications for gene: MKKS were set to
Prepair 1000+ v1.1468 USH1C Zornitza Stark Marked gene: USH1C as ready
Prepair 1000+ v1.1468 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Prepair 1000+ v1.1468 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, 276904 (3) to Usher syndrome, type 1C MIM# 276904, MONDO:0010171
Prepair 1000+ v1.1467 USH1C Zornitza Stark Publications for gene: USH1C were set to
Prepair 1000+ v1.1466 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Prepair 1000+ v1.1466 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1466 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, 607596 (3) to Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Prepair 1000+ v1.1465 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Prepair 1000+ v1.1464 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Prepair 1000+ v1.1464 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1464 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) to Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287
Prepair 1000+ v1.1463 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3); Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)
Prepair 1000+ v1.1461 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Mendeliome v1.2297 DDX53 Zornitza Stark Marked gene: DDX53 as ready
Mendeliome v1.2297 DDX53 Zornitza Stark Gene: ddx53 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1460 SLC25A1 Cassandra Muller reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347, 26870663, 31527857, 31808147, 23561848, 23393310; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 WDR34 Marta Cifuentes Ochoa reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 VRK1 Marta Cifuentes Ochoa reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38554151, 19646678, 21937992, 25609612, 24126608, 27281532, 34169149, 26583493; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866, Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 USH1C Marta Cifuentes Ochoa reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C MIM# 276904, MONDO:0010171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MKKS Andrew Coventry reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973238, 10973251, 12107442, 20472660, 15770229, 20177705, 28761321, 30718709; Phenotypes: Bardet-Biedl syndrome 6 MIM#605231, McKusick-Kaufman syndrome MIM#236700, MKKS-related ciliopathy MONDO:1040050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC19A3 Cassandra Muller reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15871139, 19387023, 20065143, 23423671; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MFSD2A Andrew Coventry reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30043326, 32572202, 26005865, 26005868; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MED23 Andrew Coventry changed review comment from: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present.; to: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present. Variants reported include nonsense and missense.
Prepair 1000+ v1.1460 MED23 Andrew Coventry reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965, 27457812, 30847200, 31164858; Phenotypes: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC19A2 Cassandra Muller reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 19643445; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, 249270 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 UROS Marta Cifuentes Ochoa reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30685241, 24027798, 28334762, 27512208, 34187847, 34828434, 15065102; Phenotypes: Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MECP2 Andrew Coventry reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11402105, 10577905, 11071498, 16647997, 10508514, 31206249, 10986043, 11807877; Phenotypes: Encephalopathy, neonatal severe MIM#300673, Intellectual developmental disorder, X-linked syndromic 13 MIM#300055, Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1460 UPB1 Marta Cifuentes Ochoa reviewed gene: UPB1: Rating: RED; Mode of pathogenicity: None; Publications: 35926322, 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161, MONDO:0013164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC12A1 Cassandra Muller reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640224, 9355073, 28095294; Phenotypes: Bartter syndrome, type 1, 601678 (3); Mode of inheritance: None
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa Deleted their review
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa commented on gene: TRMU: Acute infantile liver failure resulting from variants in TRMU is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function.

HGNC approved symbol/name: TRMU
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families

Yemenite Jewish founder variant, p.Tyr77His.
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TREX1 Marta Cifuentes Ochoa reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 33996686, 36814213; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TMTC3 Marta Cifuentes Ochoa reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161, 33293961; Phenotypes: Lissencephaly 8 MIM#617255, MONDO:0014992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TCTN3 Marta Cifuentes Ochoa reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 32139166, 25118024, 34096792; Phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, MONDO:0009794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TAT Marta Cifuentes Ochoa reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600, MONDO:0010160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SH3PXD2B Cassandra Muller reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, 249420 (3); Mode of inheritance: None
Prepair 1000+ v1.1460 SGO1 Cassandra Muller reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic atrial and intestinal dysrhythmia, 616201 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 PKD1L1 Lilian Downie gene: PKD1L1 was added
gene: PKD1L1 was added to Prepair 1000+. Sources: Expert list
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKD1L1 were set to PMID: 33655537; PMID: 27616478
Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal MIM#617205
Review for gene: PKD1L1 was set to AMBER
Added comment: Variable penetrance but can cause major organ malformation, particularly cardiac, intestinal malformation, ciliary dyskinesia, hydrops.
Sources: Expert list
Prepair 1000+ v1.1459 LAMC2 Clare Hunt reviewed gene: LAMC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: None
Prepair 1000+ v1.1459 KRT5 Clare Hunt reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31302245, 31312705, 34912369; Phenotypes: Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 KNL1 Clare Hunt reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26626498, 22983954, 20598275, 15806441, 27149178; Phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UQCRC2 Lisa Norbart reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 33865955, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM#615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 NHLRC1 Lauren Thomas reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597, 18256682; Phenotypes: Myoclonic epilepsy of Lafora 2, MIM# 620681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ACSF3 Lisa Norbart reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 30740739; Phenotypes: Combined malonic and methylmalonic aciduria, MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ABCA4 Lisa Norbart reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 19, MIM#601718, Retinal dystrophy, early-onset severe, MIM#248200, Stargardt disease 1, MIM#248200, Cone-rod dystrophy 3, MIM#604116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 NDUFV1 Lauren Thomas reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 WRN Lisa Norbart reviewed gene: WRN: Rating: AMBER; Mode of pathogenicity: None; Publications: 8968742, 20301687; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 WAS Lisa Norbart reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12969986, 23689198, 20301357, 34307257; Phenotypes: Neutropenia, severe congenital, X-linked, MIM#300299, Thrombocytopenia, X-linked, MIM#313900, Wiskott-Aldrich syndrome, MIM#301000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 VKORC1 Lisa Norbart reviewed gene: VKORC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12704386, 14765194, 24963046, 18315553; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 MYO7A Lauren Thomas reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29400105, 8160750; Phenotypes: Deafness, autosomal recessive 2, MIM# 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2297 SHROOM3 Chirag Patel reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39875538; Phenotypes: Craniofacial microsomia MONDO:0015397; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v1.12 SHROOM3 Chirag Patel Classified gene: SHROOM3 as Amber List (moderate evidence)
Mandibulofacial Acrofacial dysostosis v1.12 SHROOM3 Chirag Patel Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Mandibulofacial Acrofacial dysostosis v1.12 SHROOM3 Chirag Patel Classified gene: SHROOM3 as Amber List (moderate evidence)
Mandibulofacial Acrofacial dysostosis v1.12 SHROOM3 Chirag Patel Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Mandibulofacial Acrofacial dysostosis v1.11 SHROOM3 Chirag Patel Classified gene: SHROOM3 as Amber List (moderate evidence)
Mandibulofacial Acrofacial dysostosis v1.11 SHROOM3 Chirag Patel Gene: shroom3 has been classified as Amber List (Moderate Evidence).
Mandibulofacial Acrofacial dysostosis v1.10 SHROOM3 Chirag Patel gene: SHROOM3 was added
gene: SHROOM3 was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature
Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHROOM3 were set to PMID: 39875538
Phenotypes for gene: SHROOM3 were set to Craniofacial microsomia MONDO:0015397
Review for gene: SHROOM3 was set to AMBER
Added comment: SHROOM3 has been implicated in facial development via GWAS, with association between SHROOM3 and HFM, cleft lip/palate, orofacial clefts, and neural tube defects. Human embryo expression data shows that SHROOM3 is mainly expressed in craniofacial mesoderm, neural progenitor cells, and somites in the head and trunk regions. Mouse Genome Informatics data shows that Shroom3 is expressed in various tissues during different stages of embryonic development, including the head mesenchyme, ear, eye, face, and nose.

Li et al. (2025) performed SHROOM3 gene sequencing in 320 sporadic hemifacial microsomia patients. They identified 7 individuals with 7 deleterious missense variants (MAF <0.005, CADD >20, predicted deleterious with >3 silico tools). No in vitro/in vivo functional studies to assess the consequences of the variants and their role in HFM.
Sources: Literature
Prepair 1000+ v1.1459 UNC13D Lisa Norbart reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 16825436, 17993578, 21881043; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UBA5 Lisa Norbart reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545681, 27545681, 27545674, 32179706, 26872069; Phenotypes: Developmental and epileptic encephalopathy 44, MIM#617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 TYR Lisa Norbart reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868138, 37053367; Phenotypes: Oculocutaneous albinism type 1 (MONDO:0018135), Albinism, oculocutaneous, type IA, MIM#203100, Albinism, oculocutaneous, type IB, MIM#606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 SYN1 Lisa Norbart reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985377, 21441247, 28973667; Phenotypes: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491, Intellectual developmental disorder, X-linked 50, MIM#300115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Marked gene: ITGA3 as ready
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Added comment: Comment when marking as ready: UPGRADE TO GREEN
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Gene: itga3 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Publications for gene: ITGA3 were set to 22512483; 25810266; 23114595; 27717396; 32198874; 26854491; 34492382; 34751145
Prepair 1000+ v1.1458 ITGA3 Lilian Downie Publications for gene: ITGA3 were set to 27717396; 22512483; 26854491; 32198874; 25810266
Prepair 1000+ v1.1457 MTHFR Lauren Thomas changed review comment from: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes ; to: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: there are two very common variants in this gene that are not associated with severe disease (665C>T & 1286A>C)
Prepair 1000+ v1.1457 VPS11 Lilian Downie Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Prepair 1000+ v1.1456 VPS11 Lilian Downie Tag founder tag was added to gene: VPS11.
Prepair 1000+ v1.1456 VPS53 Lilian Downie Tag founder tag was added to gene: VPS53.
Prepair 1000+ v1.1456 TXNL4A Lisa Norbart reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003, 34713892, 28905882; Phenotypes: Burn-McKeown syndrome, MIM#608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TULP1 Lisa Norbart reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024725, 17962469, 17620573, 27440997; Phenotypes: Leber congenital amaurosis 15, MIM#613843, Retinitis pigmentosa 14, MIM#600132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TMCO1 Lisa Norbart reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24194475, 20018682, 17351359, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.108 C12orf66 Chirag Patel Classified gene: C12orf66 as Green List (high evidence)
Genetic Epilepsy v1.108 C12orf66 Chirag Patel Gene: c12orf66 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.108 C12orf66 Chirag Patel Classified gene: C12orf66 as Green List (high evidence)
Genetic Epilepsy v1.108 C12orf66 Chirag Patel Gene: c12orf66 has been classified as Green List (High Evidence).
Mendeliome v1.2297 C12orf66 Chirag Patel reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39824192; Phenotypes: Neurodevelopmental disorder MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.62 C12orf66 Chirag Patel reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39824192; Phenotypes: Neurodevelopmental disorder MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.107 C12orf66 Chirag Patel gene: C12orf66 was added
gene: C12orf66 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: C12orf66 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf66 were set to PMID: 39824192
Phenotypes for gene: C12orf66 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: C12orf66 was set to GREEN
Added comment: 11 individuals from 8 families with mild to moderate intellectual disability (11/11), epilepsy (8/11), hearing impairment (3/11), macrocephaly (2/11), facial dysmorphism (6/6).

WES/WGS identified biallelic variants (missense, nonsense, and large deletion) in KICS2 gene (aka C12ORF66). The KICS2 protein is part of the KICSTOR complex which recruits GATOR1 to lysosomes and inhibits mTORC1 activity. Overactivation of the mTORC1 pathway is a recognized cause of several neurodevelopmental disorders.

The variants in the individuals partly affected KICS2 stability, compromised KICSTOR complex formation, and demonstrated a deleterious impact on nutrient-dependent mTORC1 regulation of 4EBP1 and S6K. Phosphoproteome analyses extended these findings to show that KICS2 variants changed the mTORC1 proteome, affecting proteins that function in translation, splicing, and ciliogenesis. Depletion of Kics2 in zebrafish resulted in ciliary dysfunction consistent with a role of mTORC1 in cilia biology.
Sources: Literature
Mendeliome v1.2297 ARHGEF40 Chirag Patel Classified gene: ARHGEF40 as Red List (low evidence)
Mendeliome v1.2297 ARHGEF40 Chirag Patel Gene: arhgef40 has been classified as Red List (Low Evidence).
Mendeliome v1.2296 ARHGEF40 Chirag Patel Classified gene: ARHGEF40 as Green List (high evidence)
Mendeliome v1.2296 ARHGEF40 Chirag Patel Gene: arhgef40 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.62 ARHGEF40 Chirag Patel gene: ARHGEF40 was added
gene: ARHGEF40 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGEF40 were set to PMID: 39838643
Phenotypes for gene: ARHGEF40 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: ARHGEF40 was set to RED
Added comment: 2 individuals with global developmental delay, hypotonia, short stature, hearing impairment, nystagmus, feeding issues, and dysmorphism (bifid uvula, narrow mouth, high palate, micrognathia). Trio clinical whole exome sequencing identified de novo variants in the ARHGEF40 gene at position p.Arg225, which is fully conserved in mammals and located within the n-terminal keratin binding region (p.Arg225Trp and p.Arg225Gln). Of note, multiple additional probands with rare missense variants at the p.Arg225 residue have been identified by the same laboratory (but there was no consent for publication, providing further evidence of
the importance of this residue.

The ARHGEF40 gene (aka SOLO) is a member of the Rho guanine nucleotide exchange factor (Rho-GEF) family of proteins, which stimulate Rho signal transduction molecules by converting them from inactive GDP-bound form to the active GTP-bound state. No functional studies to characterise disease-gene relationship or disease mechanism.
Sources: Literature
Mendeliome v1.2295 ARHGEF40 Chirag Patel gene: ARHGEF40 was added
gene: ARHGEF40 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGEF40 were set to PMID: 39838643
Phenotypes for gene: ARHGEF40 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: ARHGEF40 was set to RED
Added comment: 2 individuals with global developmental delay, hypotonia, short stature, hearing impairment, nystagmus, feeding issues, and dysmorphism (bifid uvula, narrow mouth, high palate, micrognathia). Trio clinical whole exome sequencing identified de novo variants in the ARHGEF40 gene at position p.Arg225, which is fully conserved in mammals and located within the n-terminal keratin binding region (p.Arg225Trp and p.Arg225Gln). Of note, multiple additional probands with rare missense variants at the p.Arg225 residue have been identified by the same laboratory (but there was no consent for publication, providing further evidence of
the importance of this residue.

The ARHGEF40 gene (aka SOLO) is a member of the Rho guanine nucleotide exchange factor (Rho-GEF) family of proteins, which stimulate Rho signal transduction molecules by converting them from inactive GDP-bound form to the active GTP-bound state. No functional studies to characterise disease-gene relationship or disease mechanism.
Sources: Literature
Prepair 1000+ v1.1456 TELO2 Lisa Norbart reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944240, 27132593; Phenotypes: You-Hoover-Fong syndrome, MIM#616954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 POU1F1 Lisa Norbart reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1472057, 15928241, 7593413; Phenotypes: Pituitary hormone deficiency, combined or isolated, 1, MIM#613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2294 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Mendeliome v1.2294 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Mendeliome v1.2293 HECTD1 Chirag Patel gene: HECTD1 was added
gene: HECTD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HECTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HECTD1 were set to PMID: 39879987
Phenotypes for gene: HECTD1 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: HECTD1 was set to GREEN
Added comment: 14 unrelated individuals (identified through GeneMatcher) with 15 variants of uncertain significance (VUS) in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant). Of the 15 different variants in HECTD1, 10 occurred de novo, 3 had unknown inheritance, and 2 were compound heterozygous. All variants were absent in gnomAD, and HECTD1 is highly intolerant to loss-of-function variation (loss-of-function-intolerant score of 1). Clinical presentation was variable developmental delay, intellectual disability, autism spectrum disorder, ADHD, and epilepsy.

The one individual with compound heterozygous variants had growth impairment along with NDD. The variants were inherited from apparently healthy parents, suggesting that genetic or environmental modifiers may be required to develop the phenotype. Significant enrichment of de novo variants in HECTD1 was also shown in an independent cohort of 53,305 published trios with NDDs or congenital heart disease.

HECT-domain-containing protein 1 (HECTD1) mediates developmental pathways, including cell signalling, gene expression, and embryogenesis. Conditional knockout of Hectd1 in the neural lineage in mice resulted in microcephaly, severe hippocampal malformations, and complete agenesis of the corpus callosum, supporting a role for Hectd1 in embryonic brain development. Functional studies of 2 missense variants and 1 nonsense variant in C. elegans revealed dominant effects, including either change-of-function or loss-of-function/haploinsufficient mechanisms.
Sources: Literature
Genetic Epilepsy v1.106 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Genetic Epilepsy v1.106 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.61 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.61 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.60 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.60 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.105 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Genetic Epilepsy v1.105 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.60 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Genetic Epilepsy v1.105 HECTD1 Chirag Patel Classified gene: HECTD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.60 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.105 HECTD1 Chirag Patel Gene: hectd1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.104 HECTD1 Chirag Patel gene: HECTD1 was added
gene: HECTD1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: HECTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HECTD1 were set to PMID: 39879987
Phenotypes for gene: HECTD1 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: HECTD1 was set to GREEN
Added comment: 14 unrelated individuals (identified through GeneMatcher) with 15 variants of uncertain significance (VUS) in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant). Of the 15 different variants in HECTD1, 10 occurred de novo, 3 had unknown inheritance, and 2 were compound heterozygous. All variants were absent in gnomAD, and HECTD1 is highly intolerant to loss-of-function variation (loss-of-function-intolerant score of 1). Clinical presentation was variable developmental delay, intellectual disability, autism spectrum disorder, ADHD, and epilepsy.

The one individual with compound heterozygous variants had growth impairment along with NDD. The variants were inherited from apparently healthy parents, suggesting that genetic or environmental modifiers may be required to develop the phenotype.

Significant enrichment of de novo variants in HECTD1 was also shown in an independent cohort of 53,305 published trios with NDDs or congenital heart disease.

HECT-domain-containing protein 1 (HECTD1) mediates developmental pathways, including cell signalling, gene expression, and embryogenesis. Conditional knockout of Hectd1 in the neural lineage in mice resulted in microcephaly, severe hippocampal malformations, and complete agenesis of the corpus callosum, supporting a role for Hectd1 in embryonic brain development. Functional studies of 2 missense variants and 1 nonsense variant in C. elegans revealed dominant effects, including either change-of-function or loss-of-function/haploinsufficient mechanisms.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.59 HECTD1 Chirag Patel gene: HECTD1 was added
gene: HECTD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HECTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HECTD1 were set to PMID: 39879987
Phenotypes for gene: HECTD1 were set to Neurodevelopmental disorder MONDO:0700092
Review for gene: HECTD1 was set to GREEN
Added comment: 14 unrelated individuals (identified through GeneMatcher) with 15 variants of uncertain significance (VUS) in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant). Of the 15 different variants in HECTD1, 10 occurred de novo, 3 had unknown inheritance, and 2 were compound heterozygous. All variants were absent in gnomAD, and HECTD1 is highly intolerant to loss-of-function variation (loss-of-function-intolerant score of 1). Clinical presentation was variable developmental delay, intellectual disability, autism spectrum disorder, ADHD, and epilepsy.

The one individual with compound heterozygous variants had growth impairment along with NDD. The variants were inherited from apparently healthy parents, suggesting that genetic or environmental modifiers may be required to develop the phenotype.

Significant enrichment of de novo variants in HECTD1 was also shown in an independent cohort of 53,305 published trios with NDDs or congenital heart disease.

HECT-domain-containing protein 1 (HECTD1) mediates developmental pathways, including cell signalling, gene expression, and embryogenesis. Conditional knockout of Hectd1 in the neural lineage in mice resulted in microcephaly, severe hippocampal malformations, and complete agenesis of the corpus callosum, supporting a role for Hectd1 in embryonic brain development. Functional studies of 2 missense variants and 1 nonsense variant in C. elegans revealed dominant effects, including either change-of-function or loss-of-function/haploinsufficient mechanisms.
Sources: Literature
Prepair 1000+ v1.1456 SGCB Cassandra Muller reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 KIF1C Clare Hunt reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24319291, 17273843, 24482476; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM#611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 IL1RAPL1 Clare Hunt reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18801879, 16470793, 18005360, 21484992, 19012350; Phenotypes: Intellectual developmental disorder, X-linked 21, MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 ITGA3 Kate Scarff reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22512483, 25810266, 23114595, 27717396, 32198874, 26854491, 34492382, 34751145; Phenotypes: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MIM #614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PHF8 Clare Hunt reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35469323, 10398231, 18498374, 16199551, 17661819; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 PIEZO2 Clare Hunt reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27843126, 27912047, 27974811; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 SBDS Cassandra Muller reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12496757, 32412173; Phenotypes: Shwachman-Diamond syndrome, 260400 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 ISCA2 Kate Scarff reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243, 32424628, 39544370, 29470032; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM #616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2292 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812 to Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812; Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091
Mendeliome v1.2291 PDGFRB Zornitza Stark edited their review of gene: PDGFRB: Added comment: Single family reported with OPDKD phenotype characterised by aggressive circumferential ingrowth of conjunctiva beginning in early childhood that is resistant to treatment, ultimately covering the cornea and resulting in loss of vision. Digital keloid formation after minor trauma, which can become extensive and cause flexion contractures; hardened auricles. RED for this association.; Changed publications: 33450762; Changed phenotypes: Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091, Basal ganglia calcification, idiopathic, 4, MIM# 615007, Kosaki overgrowth syndrome, MIM# 616592, Myeloproliferative disorder with eosinophilia, MIM# 131440, Myofibromatosis, infantile, 1, MIM# 228550, Premature ageing syndrome, Penttinen type, MIM# 601812
Prepair 1000+ v1.1456 IL17RA Kate Scarff reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21350122, 27930337, 34390440, 26607704; Phenotypes: Immunodeficiency 51, MIM #613953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2291 TAF11 Bryony Thompson Marked gene: TAF11 as ready
Mendeliome v1.2291 TAF11 Bryony Thompson Gene: taf11 has been classified as Red List (Low Evidence).
Clefting disorders v0.260 TAF11 Bryony Thompson Marked gene: TAF11 as ready
Clefting disorders v0.260 TAF11 Bryony Thompson Gene: taf11 has been classified as Red List (Low Evidence).
Clefting disorders v0.260 TAF11 Bryony Thompson gene: TAF11 was added
gene: TAF11 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: TAF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF11 were set to 39727181
Phenotypes for gene: TAF11 were set to cleft lip MONDO:0004747
Review for gene: TAF11 was set to RED
Added comment: 2 individuals in a single Chinese family with nonsyndromic cleft lip segregating with the missense p.Leu48Phe. The missense has an AF of 1.8% (including 15 homozygotes) in gnomAD v4 in the East Asian population, which is too common for an autosomal dominant disease—also, a supporting zebrafish model with craniofacial abnormalities (however the genetic evidence for this GDA is lacking).
Sources: Literature
Mendeliome v1.2291 TAF11 Bryony Thompson gene: TAF11 was added
gene: TAF11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TAF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF11 were set to 39727181
Phenotypes for gene: TAF11 were set to cleft lip MONDO:0004747
Review for gene: TAF11 was set to RED
Added comment: 2 individuals in a single Chinese family with nonsyndromic cleft lip segregating with the missense p.Leu48Phe. The missense has an AF of 1.8% (including 15 homozygotes) in gnomAD v4 in the East Asian population, which is too common for an autosomal dominant disease—also, a supporting zebrafish model with craniofacial abnormalities (however the genetic evidence for this GDA is lacking).
Sources: Literature
Prepair 1000+ v1.1456 TK2 Michelle Torres reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23230576; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Marked gene: PTPMT1 as ready
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Classified gene: PTPMT1 as Green List (high evidence)
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.58 PTPMT1 Bryony Thompson Marked gene: PTPMT1 as ready
Intellectual disability syndromic and non-syndromic v1.58 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.968 PTPMT1 Bryony Thompson gene: PTPMT1 was added
gene: PTPMT1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPMT1 were set to 39279645; 37672386
Phenotypes for gene: PTPMT1 were set to inborn mitochondrial metabolism disorder MONDO:0004069
Review for gene: PTPMT1 was set to GREEN
Added comment: 6 cases from 3 independent families with biallelic variants in PTPMT1 (a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis). All cases presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome including developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Supporting knockout zebrafish and mouse models.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.58 PTPMT1 Bryony Thompson Classified gene: PTPMT1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.58 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.57 PTPMT1 Bryony Thompson gene: PTPMT1 was added
gene: PTPMT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPMT1 were set to 39279645; 37672386
Phenotypes for gene: PTPMT1 were set to inborn mitochondrial metabolism disorder MONDO:0004069
Review for gene: PTPMT1 was set to GREEN
Added comment: 6 cases from 3 independent families with biallelic variants in PTPMT1 (a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis). All cases presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome including developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Supporting knockout zebrafish and mouse models.
Sources: Literature
Mendeliome v1.2290 PTPMT1 Bryony Thompson Marked gene: PTPMT1 as ready
Mendeliome v1.2290 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Mendeliome v1.2290 PTPMT1 Bryony Thompson Classified gene: PTPMT1 as Green List (high evidence)
Mendeliome v1.2290 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Mendeliome v1.2289 PTPMT1 Bryony Thompson gene: PTPMT1 was added
gene: PTPMT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPMT1 were set to 39279645; 37672386
Phenotypes for gene: PTPMT1 were set to inborn mitochondrial metabolism disorder MONDO:0004069
Review for gene: PTPMT1 was set to GREEN
Added comment: 6 cases from 3 independent families with biallelic variants in PTPMT1 (a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis). All cases presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome including developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Supporting knockout zebrafish and mouse models.
Sources: Literature
Prepair 1000+ v1.1456 ZC4H2 Michelle Torres reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31206972, 37010288; Phenotypes: Wieacker-Wolff syndrome MIM#314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1456 ZAP70 Michelle Torres Deleted their comment
Prepair 1000+ v1.1456 ZAP70 Michelle Torres commented on gene: ZAP70: The ZAP70 gene is associated with both Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 and Immunodeficiency 48 MIM#269840.

Genotype-phenotype correlation:
- ZAP70 LoF variants cause Immunodeficiency 48 MIM#269840 characterised by low CD8 number, normal CD4 number but with poor function.
- ZAP70 combined hypomorphic and activating mutations cause decreased CD8, normal or decreased CD4 cells and severe autoimmunity resulting in Autoimmune disease, multisystem, infantile-onset, 2.
Prepair 1000+ v1.1456 ZAP70 Michelle Torres reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006, Immunodeficiency 48 MIM#269840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 WNT7A Michelle Torres reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826533, 23922166, 28855715; Phenotypes: Fuhrmann syndrome MIM#228930, Ulna and fibula, absence of, with severe limb deficiency MIM#276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 WNK1 Michelle Torres reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15060842, 15911806, 15455397, 16534117, 21089229, 32790646; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II MIM#201300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 UPF3B Michelle Torres reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26012578, 38318947; Phenotypes: Intellectual developmental disorder, X-linked syndromic 14 MIM#300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311, 39762237; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres Deleted their review
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 TTC37 Michelle Torres reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TRAPPC9 Michelle Torres reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30853973; Phenotypes: Intellectual developmental disorder, autosomal recessive 13 MIM#613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TRAPPC6B Michelle Torres reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MIM#617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PIGV Clare Hunt reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 21739589, 20080219, 29310717, 20802478, 22228761; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PRDM5 Clare Hunt reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 14679583, 22122778, 21664999, 8458232, 28306229; Phenotypes: Brittle cornea syndrome 2, MIM#614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PRKRA Clare Hunt reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 35844281, 18420150; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Prepair 1000+ v1.1456 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1456 UGT1A1 Zornitza Stark Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome, type I, 218800 (3) to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785
Prepair 1000+ v1.1455 UGT1A1 Zornitza Stark Publications for gene: UGT1A1 were set to
Prepair 1000+ v1.1454 UBR1 Zornitza Stark Marked gene: UBR1 as ready
Prepair 1000+ v1.1454 UBR1 Zornitza Stark Gene: ubr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1454 UBR1 Zornitza Stark Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome, 243800 (3) to Johanson-Blizzard syndrome MIM#243800
Prepair 1000+ v1.1453 UBR1 Zornitza Stark Publications for gene: UBR1 were set to
Prepair 1000+ v1.1452 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Prepair 1000+ v1.1452 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1452 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from Mulibrey nanism, 253250 (3) to Mulibrey nanism MIM#253250
Prepair 1000+ v1.1451 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
Prepair 1000+ v1.1450 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Prepair 1000+ v1.1450 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1450 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 (3) to Ichthyosis, congenital, autosomal recessive 1, MIM#242300
Prepair 1000+ v1.1449 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Prepair 1000+ v1.1448 TDRD7 Zornitza Stark Marked gene: TDRD7 as ready
Prepair 1000+ v1.1448 TDRD7 Zornitza Stark Gene: tdrd7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1448 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from Cataract 36, 613887 (3) to Cataract 36 MIM#613887
Prepair 1000+ v1.1447 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to
Prepair 1000+ v1.1446 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Prepair 1000+ v1.1446 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1446 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Prepair 1000+ v1.1445 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Prepair 1000+ v1.1444 TBCD Zornitza Stark Marked gene: TBCD as ready
Prepair 1000+ v1.1444 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1444 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Prepair 1000+ v1.1443 TBCD Zornitza Stark Publications for gene: TBCD were set to
Prepair 1000+ v1.1442 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Prepair 1000+ v1.1442 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1442 STUB1 Zornitza Stark Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16, 615768 (3) to Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
Prepair 1000+ v1.1441 STUB1 Zornitza Stark Publications for gene: STUB1 were set to
Prepair 1000+ v1.1440 STUB1 Zornitza Stark edited their review of gene: STUB1: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
Prepair 1000+ v1.1440 STUB1 Zornitza Stark reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1440 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Prepair 1000+ v1.1440 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1440 SNX14 Zornitza Stark Phenotypes for gene: SNX14 were changed from Spinocerebellar ataxia, autosomal recessive 20, 616354 (3) to Spinocerebellar ataxia, autosomal recessive 20 MIM#616354
Prepair 1000+ v1.1439 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Prepair 1000+ v1.1437 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Prepair 1000+ v1.1436 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Prepair 1000+ v1.1436 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1436 SLC39A14 Zornitza Stark Phenotypes for gene: SLC39A14 were changed from Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive to Hypermanganesaemia with dystonia 2, MIM# 617013
Prepair 1000+ v1.1435 SLC39A14 Zornitza Stark Publications for gene: SLC39A14 were set to
Prepair 1000+ v1.1434 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Prepair 1000+ v1.1434 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1434 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures (MIM615553) to Arthrogryposis, impaired intellectual development, and seizures MIM#615553
Prepair 1000+ v1.1433 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Prepair 1000+ v1.1433 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1433 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Prepair 1000+ v1.1432 SERAC1 Zornitza Stark Publications for gene: SERAC1 were set to
Prepair 1000+ v1.1431 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Prepair 1000+ v1.1431 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1431 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from Van den Ende-Gupta syndrome, 600920 (3) to Van den Ende-Gupta syndrome, MIM#600920
Prepair 1000+ v1.1430 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Prepair 1000+ v1.1429 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Prepair 1000+ v1.1429 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1429 SAR1B Zornitza Stark Phenotypes for gene: SAR1B were changed from Chylomicron retention disease, 246700 (3) to Chylomicron retention disease MIM#246700
Prepair 1000+ v1.1428 SAR1B Zornitza Stark Publications for gene: SAR1B were set to
Prepair 1000+ v1.1427 RPGRIP1 Zornitza Stark Marked gene: RPGRIP1 as ready
Prepair 1000+ v1.1427 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1427 RPGRIP1 Zornitza Stark Phenotypes for gene: RPGRIP1 were changed from Cone-rod dystrophy 13, 608194 (3) to Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446
Prepair 1000+ v1.1426 RPGRIP1 Zornitza Stark Publications for gene: RPGRIP1 were set to
Prepair 1000+ v1.1425 RTTN Zornitza Stark Marked gene: RTTN as ready
Prepair 1000+ v1.1425 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1425 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from Polymicrogyria with seizures, 614833 (3) to Microcephaly, short stature, and polymicrogyria with seizures MIM#614833
Prepair 1000+ v1.1424 RTTN Zornitza Stark Publications for gene: RTTN were set to
Prepair 1000+ v1.1423 ROGDI Zornitza Stark Marked gene: ROGDI as ready
Prepair 1000+ v1.1423 ROGDI Zornitza Stark Gene: rogdi has been classified as Green List (High Evidence).
Prepair 1000+ v1.1423 ROGDI Zornitza Stark Phenotypes for gene: ROGDI were changed from Kohlschutter-Tonz syndrome, 226750 (3) to Kohlschutter-Tonz syndrome MIM#226750
Prepair 1000+ v1.1422 ROGDI Zornitza Stark Publications for gene: ROGDI were set to
Prepair 1000+ v1.1421 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Prepair 1000+ v1.1421 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1421 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from Charcot-Marie-Tooth disease, type 4B2, 604563 (3) to Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475
Prepair 1000+ v1.1420 SBF2 Zornitza Stark Publications for gene: SBF2 were set to
Prepair 1000+ v1.1419 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1419 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Prepair 1000+ v1.1419 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1419 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from Warburg micro syndrome 3, 614222 (3) to Warburg micro syndrome 3 MIM#614222
Prepair 1000+ v1.1418 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Prepair 1000+ v1.1417 PXDN Zornitza Stark Marked gene: PXDN as ready
Prepair 1000+ v1.1417 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1417 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from Corneal opacification and other ocular anomalies, 269400 (3) to Anterior segment dysgenesis 7, with sclerocornea, MIM#269400
Prepair 1000+ v1.1416 PXDN Zornitza Stark Publications for gene: PXDN were set to
Prepair 1000+ v1.1415 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Prepair 1000+ v1.1415 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1415 SERPINF1 Zornitza Stark Phenotypes for gene: SERPINF1 were changed from Osteogenesis imperfecta, type VI, 613982 (3) to Osteogenesis imperfecta, type VI, MIM# 613982; MONDO:0013515
Prepair 1000+ v1.1414 SERPINF1 Zornitza Stark Publications for gene: SERPINF1 were set to
Prepair 1000+ v1.1413 SC5D Zornitza Stark Marked gene: SC5D as ready
Prepair 1000+ v1.1413 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Prepair 1000+ v1.1413 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from Lathosterolosis, 607330 (3) to Lathosterolosis, MIM#607330
Prepair 1000+ v1.1412 SC5D Zornitza Stark Publications for gene: SC5D were set to
Prepair 1000+ v1.1411 SFTPB Zornitza Stark Marked gene: SFTPB as ready
Prepair 1000+ v1.1411 SFTPB Zornitza Stark Gene: sftpb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1411 SFTPB Zornitza Stark Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Prepair 1000+ v1.1410 SFTPB Zornitza Stark Publications for gene: SFTPB were set to
Fetal anomalies v1.313 SENP7 Bryony Thompson Classified gene: SENP7 as Green List (high evidence)
Fetal anomalies v1.313 SENP7 Bryony Thompson Gene: senp7 has been classified as Green List (High Evidence).
Fetal anomalies v1.312 SENP7 Bryony Thompson reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 37460201, 39763084, 38972567; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1409 SGCD Zornitza Stark Marked gene: SGCD as ready
Prepair 1000+ v1.1409 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1409 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from Muscular dystrophy, limb-girdle, type 2F, 601287 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Prepair 1000+ v1.1408 SGCD Zornitza Stark Publications for gene: SGCD were set to
Prepair 1000+ v1.1407 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Prepair 1000+ v1.1407 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1407 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, 227810 (3) to Fanconi-Bickel syndrome, MIM# 227810
Prepair 1000+ v1.1406 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to 30950137; 22145468
Prepair 1000+ v1.1405 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to
Arthrogryposis v0.416 SENP7 Bryony Thompson Publications for gene: SENP7 were set to PMID: 37460201
Prepair 1000+ v1.1404 SGCA Zornitza Stark Marked gene: SGCA as ready
Prepair 1000+ v1.1404 SGCA Zornitza Stark Gene: sgca has been classified as Green List (High Evidence).
Prepair 1000+ v1.1404 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D, 608099 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968
Arthrogryposis v0.415 SENP7 Bryony Thompson Classified gene: SENP7 as Green List (high evidence)
Arthrogryposis v0.415 SENP7 Bryony Thompson Gene: senp7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1403 SGCA Zornitza Stark Publications for gene: SGCA were set to
Arthrogryposis v0.414 SENP7 Bryony Thompson reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 37460201, 39763084, 38972567; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.1402 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Prepair 1000+ v1.1402 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1402 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Tag SV/CNV tag was added to gene: SMN1.
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 (3) to Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669
Prepair 1000+ v1.1400 SMN1 Zornitza Stark Publications for gene: SMN1 were set to
Prepair 1000+ v1.1399 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1399 SOST Zornitza Stark Marked gene: SOST as ready
Prepair 1000+ v1.1399 SOST Zornitza Stark Gene: sost has been classified as Green List (High Evidence).
Prepair 1000+ v1.1399 SOST Zornitza Stark Phenotypes for gene: SOST were changed from Sclerosteosis 1, 269500 (3) to Sclerosteosis 1, OMIM#269500,MONDO:0010016
Prepair 1000+ v1.1398 SOST Zornitza Stark Publications for gene: SOST were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145 NR6A1 Bryony Thompson Marked gene: NR6A1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145 NR6A1 Bryony Thompson Classified gene: NR6A1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Marked gene: NR6A1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Classified gene: NR6A1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.144 NR6A1 Bryony Thompson gene: NR6A1 was added
gene: NR6A1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR6A1 were set to 39606382
Phenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397
Review for gene: NR6A1 was set to GREEN
Added comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.42 NR6A1 Bryony Thompson gene: NR6A1 was added
gene: NR6A1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR6A1 were set to 39606382
Phenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397
Review for gene: NR6A1 was set to GREEN
Added comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease.
Sources: Literature
Mendeliome v1.2288 NR6A1 Bryony Thompson Marked gene: NR6A1 as ready
Mendeliome v1.2288 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1397 SOST Marta Cifuentes Ochoa reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 35160258, 21221996, 17853455, 30077757, 24594238; Phenotypes: Sclerosteosis 1, OMIM#269500,MONDO:0010016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2288 NR6A1 Bryony Thompson Classified gene: NR6A1 as Green List (high evidence)
Mendeliome v1.2288 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Mendeliome v1.2287 NR6A1 Bryony Thompson gene: NR6A1 was added
gene: NR6A1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR6A1 were set to 39606382
Phenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397
Review for gene: NR6A1 was set to GREEN
Added comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease.
Sources: Literature
Prepair 1000+ v1.1397 SMN1 Marta Cifuentes Ochoa reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7813012, 23788250, 39062735, 29904179, 33531827; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SNAP29 Lauren Rogers reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783, 33977139; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SGCA Marta Cifuentes Ochoa reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573, 30989758; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC2A2 Lauren Rogers reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SGCD Lauren Rogers reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 19259135, 20623375, 10838250, 10735275, 9832045, 30733730; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SFTPB Lauren Rogers reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 8021783, 10378403, 10571948; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SC5D Lauren Rogers reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SERPINF1 Marta Cifuentes Ochoa reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353196, 23054245, 37425194; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982, MONDO:0013515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PXDN Clare Hunt reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21474777, 24939590, 21907015; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM#269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RAB18 Clare Hunt reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 21473985, 20512159, 23420520, 23176487; Phenotypes: Warburg micro syndrome 3 MIM#614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SBF2 Marta Cifuentes Ochoa reviewed gene: SBF2: Rating: ; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 ROGDI Clare Hunt reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 8133980, 22482807; Phenotypes: Kohlschutter-Tonz syndrome MIM#226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RTTN Marta Cifuentes Ochoa reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067, 30121372, 29967526, 38178912; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures MIM#614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RPGRIP1 Marta Cifuentes Ochoa reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25414380, 28456785, 24997176, 28559085, 33308271, 31666973, 39669618, 34722527; Phenotypes: Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2286 MRAP2 Zornitza Stark Marked gene: MRAP2 as ready
Mendeliome v1.2286 MRAP2 Zornitza Stark Gene: mrap2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2286 MRAP2 Zornitza Stark Classified gene: MRAP2 as Amber List (moderate evidence)
Mendeliome v1.2286 MRAP2 Zornitza Stark Gene: mrap2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2285 MRAP2 Zornitza Stark gene: MRAP2 was added
gene: MRAP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MRAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAP2 were set to 23869016; 31700171; 27474872; 26795956
Phenotypes for gene: MRAP2 were set to Susceptibility to obesity, MIM#615457
Review for gene: MRAP2 was set to AMBER
Added comment: Multiple studies supporting association between rare variants and obesity; however ?monogenic vs susceptibility alleles.
Sources: Literature
Prepair 1000+ v1.1397 SAR1B Clare Hunt reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692552, 3792776, 18786134; Phenotypes: Chylomicron retention disease MIM#246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v1.13 MRAP2 Zornitza Stark Classified gene: MRAP2 as Amber List (moderate evidence)
Severe early-onset obesity v1.13 MRAP2 Zornitza Stark Gene: mrap2 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.12 MRAP2 Zornitza Stark reviewed gene: MRAP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31700171; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.312 ITGAV Zornitza Stark Marked gene: ITGAV as ready
Fetal anomalies v1.312 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1397 SCARF2 Clare Hunt reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23808541, 33783941, 19449421, 35256560, 1609830; Phenotypes: Van den Ende-Gupta syndrome, MIM#600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.312 ITGAV Zornitza Stark Classified gene: ITGAV as Amber List (moderate evidence)
Fetal anomalies v1.312 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.311 ITGAV Zornitza Stark gene: ITGAV was added
gene: ITGAV was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGAV were set to 39526957
Phenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related
Review for gene: ITGAV was set to AMBER
Added comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation.
Sources: Literature
Disorders of immune dysregulation v1.5 ITGAV Zornitza Stark Marked gene: ITGAV as ready
Disorders of immune dysregulation v1.5 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v1.5 ITGAV Zornitza Stark Classified gene: ITGAV as Amber List (moderate evidence)
Disorders of immune dysregulation v1.5 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v1.4 ITGAV Zornitza Stark gene: ITGAV was added
gene: ITGAV was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGAV were set to 39526957
Phenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related
Review for gene: ITGAV was set to AMBER
Added comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation.
Sources: Literature
Mendeliome v1.2284 ITGAV Zornitza Stark Marked gene: ITGAV as ready
Mendeliome v1.2284 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2284 ITGAV Zornitza Stark Classified gene: ITGAV as Amber List (moderate evidence)
Mendeliome v1.2284 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.56 ITGAV Zornitza Stark Marked gene: ITGAV as ready
Intellectual disability syndromic and non-syndromic v1.56 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.56 ITGAV Zornitza Stark Classified gene: ITGAV as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.56 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.56 ITGAV Zornitza Stark Marked gene: ITGAV as ready
Intellectual disability syndromic and non-syndromic v1.56 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.56 ITGAV Zornitza Stark Classified gene: ITGAV as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.56 ITGAV Zornitza Stark Gene: itgav has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2283 ITGAV Zornitza Stark gene: ITGAV was added
gene: ITGAV was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGAV were set to 39526957
Phenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related
Review for gene: ITGAV was set to AMBER
Added comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.55 ITGAV Zornitza Stark gene: ITGAV was added
gene: ITGAV was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGAV were set to 39526957
Phenotypes for gene: ITGAV were set to Syndromic disease, MONDO:0002254, ITGAV-related
Review for gene: ITGAV was set to AMBER
Added comment: Three unrelated families reported: two with affected children (one hmz missense; other compound het LoF with missense) and one family with four affected fetuses. Clinical features included brain and eye anomalies and IBD/immune dysregulation. TGF-beta signalling pathway affected. The deletion of itgav in zebrafish recapitulated patient phenotypes including retinal and brain defects and the loss of microglia in early development as well as colitis in juvenile zebrafish with reduced SMAD3 expression and transcriptional regulation.
Sources: Literature
Mendeliome v1.2282 RYBP Zornitza Stark Marked gene: RYBP as ready
Mendeliome v1.2282 RYBP Zornitza Stark Gene: rybp has been classified as Green List (High Evidence).
Mendeliome v1.2282 RYBP Zornitza Stark Classified gene: RYBP as Green List (high evidence)
Mendeliome v1.2282 RYBP Zornitza Stark Gene: rybp has been classified as Green List (High Evidence).
Mendeliome v1.2281 RYBP Zornitza Stark gene: RYBP was added
gene: RYBP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RYBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RYBP were set to 39891528
Phenotypes for gene: RYBP were set to Neurodevelopmental disorder, MONDO:0700092, RYBP-related
Review for gene: RYBP was set to GREEN
Added comment: Seven individuals with heterozygous de novo variants in RYBP reported. Clinical findings include severe developmental delay, dysmorphisms and multiple congenital anomalies. All the single nucleotide variants in RYBP localized to the N-terminal domain of the gene, which encodes the zinc finger domain and ubiquitin binding moiety. Further supportive in vitro and Drosophila functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.54 RYBP Zornitza Stark Classified gene: RYBP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.54 RYBP Zornitza Stark Gene: rybp has been classified as Green List (High Evidence).
Fetal anomalies v1.310 C1orf127 Zornitza Stark Marked gene: C1orf127 as ready
Fetal anomalies v1.310 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.53 RYBP Zornitza Stark Marked gene: RYBP as ready
Intellectual disability syndromic and non-syndromic v1.53 RYBP Zornitza Stark Gene: rybp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.53 RYBP Zornitza Stark Classified gene: RYBP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.53 RYBP Zornitza Stark Gene: rybp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.52 RYBP Zornitza Stark gene: RYBP was added
gene: RYBP was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RYBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RYBP were set to 39891528
Phenotypes for gene: RYBP were set to Neurodevelopmental disorder, MONDO:0700092, RYBP-related
Review for gene: RYBP was set to GREEN
Added comment: Seven individuals with heterozygous de novo variants in RYBP reported. Clinical findings include severe developmental delay, dysmorphisms and multiple congenital anomalies. All the single nucleotide variants in RYBP localized to the N-terminal domain of the gene, which encodes the zinc finger domain and ubiquitin binding moiety. Further supportive in vitro and Drosophila functional data.
Sources: Literature
Fetal anomalies v1.310 C1orf127 Zornitza Stark Classified gene: C1orf127 as Green List (high evidence)
Fetal anomalies v1.310 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Fetal anomalies v1.309 C1orf127 Zornitza Stark gene: C1orf127 was added
gene: C1orf127 was added to Fetal anomalies. Sources: Literature
new gene name tags were added to gene: C1orf127.
Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf127 were set to 39753129
Phenotypes for gene: C1orf127 were set to Heterotaxy, visceral, MONDO:0018677, CIROZ-related
Review for gene: C1orf127 was set to GREEN
Added comment: 16 individuals from 10 families reported with bi-allelic variants in this gene and heterotaxy, including CHD. Supportive mouse model. CIROZ is absent or obsolete in select animals with motile cilia at their left-right organiser, including Carnivora, Atherinomorpha fish, or jawless vertebrates. Knockouts in zebrafish and Xenopus did not have observable LR anomalies. Approved HGNC name is CIROZ.
Sources: Literature
Mendeliome v1.2280 C1orf127 Zornitza Stark Marked gene: C1orf127 as ready
Mendeliome v1.2280 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Mendeliome v1.2280 C1orf127 Zornitza Stark Classified gene: C1orf127 as Green List (high evidence)
Mendeliome v1.2280 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Mendeliome v1.2279 C1orf127 Zornitza Stark gene: C1orf127 was added
gene: C1orf127 was added to Mendeliome. Sources: Literature
new gene name tags were added to gene: C1orf127.
Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf127 were set to 39753129
Phenotypes for gene: C1orf127 were set to Heterotaxy, visceral, MONDO:0018677, CIROZ-related
Review for gene: C1orf127 was set to GREEN
Added comment: 16 individuals from 10 families reported with bi-allelic variants in this gene and heterotaxy, including CHD. Supportive mouse model. CIROZ is absent or obsolete in select animals with motile cilia at their left-right organiser, including Carnivora, Atherinomorpha fish, or jawless vertebrates. Knockouts in zebrafish and Xenopus did not have observable LR anomalies. Approved HGNC name is CIROZ.
Sources: Literature
Heterotaxy v1.36 C1orf127 Zornitza Stark Marked gene: C1orf127 as ready
Heterotaxy v1.36 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Heterotaxy v1.36 C1orf127 Zornitza Stark Classified gene: C1orf127 as Green List (high evidence)
Heterotaxy v1.36 C1orf127 Zornitza Stark Gene: c1orf127 has been classified as Green List (High Evidence).
Heterotaxy v1.35 C1orf127 Zornitza Stark Tag new gene name tag was added to gene: C1orf127.
Heterotaxy v1.35 C1orf127 Zornitza Stark gene: C1orf127 was added
gene: C1orf127 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf127 were set to 39753129
Phenotypes for gene: C1orf127 were set to Heterotaxy, visceral, MONDO:0018677, CIROZ-related
Review for gene: C1orf127 was set to GREEN
Added comment: 16 individuals from 10 families reported with bi-allelic variants in this gene and heterotaxy, including CHD. Supportive mouse model. CIROZ is absent or obsolete in select animals with motile cilia at their left-right organiser, including Carnivora, Atherinomorpha fish, or jawless vertebrates. Knockouts in zebrafish and Xenopus did not have observable LR anomalies.

Approved HGNC name is CIROZ.
Sources: Literature
Mendeliome v1.2278 DAND5 Zornitza Stark Marked gene: DAND5 as ready
Mendeliome v1.2278 DAND5 Zornitza Stark Gene: dand5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2278 DAND5 Zornitza Stark Classified gene: DAND5 as Amber List (moderate evidence)
Mendeliome v1.2278 DAND5 Zornitza Stark Gene: dand5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2277 DAND5 Zornitza Stark gene: DAND5 was added
gene: DAND5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAND5 were set to 36316122; 34215651
Phenotypes for gene: DAND5 were set to Heterotaxy, visceral, 13, autosomal, MIM# 621079
Review for gene: DAND5 was set to AMBER
Added comment: Two individuals reported with bi-allelic LoF variants and heterotaxy.
Sources: Literature
Heterotaxy v1.34 DAND5 Zornitza Stark Marked gene: DAND5 as ready
Heterotaxy v1.34 DAND5 Zornitza Stark Gene: dand5 has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.34 DAND5 Zornitza Stark Classified gene: DAND5 as Amber List (moderate evidence)
Heterotaxy v1.34 DAND5 Zornitza Stark Gene: dand5 has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.33 DAND5 Zornitza Stark gene: DAND5 was added
gene: DAND5 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAND5 were set to 36316122; 34215651
Phenotypes for gene: DAND5 were set to Heterotaxy, visceral, 13, autosomal, MIM# 621079
Review for gene: DAND5 was set to AMBER
Added comment: Two individuals reported with bi-allelic LoF variants and heterotaxy.
Sources: Literature
Lymphoedema_nonsyndromic v0.44 MDFIC Zornitza Stark Marked gene: MDFIC as ready
Lymphoedema_nonsyndromic v0.44 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Lymphoedema_nonsyndromic v0.44 MDFIC Zornitza Stark Classified gene: MDFIC as Green List (high evidence)
Lymphoedema_nonsyndromic v0.44 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Lymphoedema_nonsyndromic v0.43 MDFIC Zornitza Stark Classified gene: MDFIC as Green List (high evidence)
Lymphoedema_nonsyndromic v0.43 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Prepair 1000+ v1.1397 SERAC1 Clare Hunt reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19015156, 23355087, 22683713, 23918762, 28916646, 29205472; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC35A3 Clare Hunt reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777481, 24031089, 28328131; Phenotypes: Arthrogryposis, impaired intellectual development, and seizures MIM#615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC39A14 Clare Hunt reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 29498153, 27231142, 30232769; Phenotypes: Hypermanganesemia with dystonia 2, MIM# 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC5A7 Clare Hunt reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 33250374, 31299140; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SNX14 Clare Hunt reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285, 24501761; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 MIM#616354; Mode of inheritance: None
Prepair 1000+ v1.1397 SPART Clare Hunt reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 28679690, 6022528, 20437587; Phenotypes: Troyer syndrome MIM#275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 STUB1 Clare Hunt reviewed gene: STUB1: Rating: ; Mode of pathogenicity: None; Publications: 24113144, 24742043; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16 MIM#615768; Mode of inheritance: None
Prepair 1000+ v1.1397 TBCD Clare Hunt reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666374, 27666370, 27807845, 31569255; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TCTN2 Clare Hunt reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 32655147, 33590725, 25118024, 25182137; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TDRD7 Clare Hunt reviewed gene: TDRD7: Rating: ; Mode of pathogenicity: None; Publications: 21436445, 28418495; Phenotypes: Cataract 36 MIM#613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TGM1 Clare Hunt reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326318, 10482949, 11298529, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.51 SEL1L Zornitza Stark Phenotypes for gene: SEL1L were changed from Neurodevelopmental disorder, MONDO:0700092, SEL1L-related to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068; Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067
Intellectual disability syndromic and non-syndromic v1.50 SEL1L Zornitza Stark reviewed gene: SEL1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068, Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2276 SEL1L Zornitza Stark Phenotypes for gene: SEL1L were changed from Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067 to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068; Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067
Mendeliome v1.2275 SEL1L Zornitza Stark edited their review of gene: SEL1L: Added comment: Has been split into two conditions by OMIM -- uncertain that these are distinct and not part of a spectrum. Await further reports.; Changed phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068, Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067
Mendeliome v1.2275 SEL1L Zornitza Stark Phenotypes for gene: SEL1L were changed from Neurodevelopmental disorder, MONDO:0700092, SEL1L-related to Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067
Mendeliome v1.2274 SEL1L Zornitza Stark reviewed gene: SEL1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TRIM37 Clare Hunt reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888877, 25470042, 33042106, 17100991, 12754710, 11938494; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 UBR1 Clare Hunt reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24599544, 18553553, 16311597; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 UGT1A1 Clare Hunt reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12983120, 37585628, 1734381, 5411133, 9413009; Phenotypes: Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport), Crigler-Najjar syndrome, type I MIM#218800, Crigler-Najjar syndrome, type II MIM#606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Marked gene: PPFIBP1 as ready
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Gene: ppfibp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Classified gene: PPFIBP1 as Green List (high evidence)
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Gene: ppfibp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Classified gene: PPFIBP1 as Green List (high evidence)
Fetal anomalies v1.308 PPFIBP1 Krithika Murali Gene: ppfibp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.307 PPFIBP1 Krithika Murali changed review comment from: Fetal microcephaly and IUGR are reported features.
Sources: Literature; to: Fetal microcephaly and IUGR are reported features.
Sources: Literature
Fetal anomalies v1.307 PPFIBP1 Krithika Murali gene: PPFIBP1 was added
gene: PPFIBP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to PMID: 35830857; PMID: 37229200
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities - MIM#620024
Review for gene: PPFIBP1 was set to GREEN
Added comment: Fetal microcephaly and IUGR are reported features.
Sources: Literature
Prepair 1000+ v1.1397 VPS11 Clare Hunt reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26307567, 26307567, 27473128, 11250079, 33452836; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v1.27 CAPRIN1 Shekeeb Mohammad gene: CAPRIN1 was added
gene: CAPRIN1 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAPRIN1 were set to 39878554
Phenotypes for gene: CAPRIN1 were set to Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy
Penetrance for gene: CAPRIN1 were set to unknown
Review for gene: CAPRIN1 was set to GREEN
gene: CAPRIN1 was marked as current diagnostic
Added comment: Sources: Literature
Ataxia - paediatric v1.30 CAPRIN1 Shekeeb Mohammad gene: CAPRIN1 was added
gene: CAPRIN1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAPRIN1 were set to 39878554
Phenotypes for gene: CAPRIN1 were set to Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy
Penetrance for gene: CAPRIN1 were set to unknown
Review for gene: CAPRIN1 was set to GREEN
gene: CAPRIN1 was marked as current diagnostic
Added comment: Sources: Literature
Hereditary Neuropathy - complex v1.19 CAPRIN1 Shekeeb Mohammad gene: CAPRIN1 was added
gene: CAPRIN1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAPRIN1 were set to 39878554
Phenotypes for gene: CAPRIN1 were set to Childhood Dementia; Myoclonus-Ataxia; Sensorimotor Neuropathy; cerebellar atrophy; cortical atrophy
Penetrance for gene: CAPRIN1 were set to unknown
Review for gene: CAPRIN1 was set to GREEN
gene: CAPRIN1 was marked as current diagnostic
Added comment: Sources: Literature
Prepair 1000+ v1.1397 POMK Lisa Norbart reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PEX13 Lisa Norbart reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883, Peroxisome biogenesis disorder 11B, MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PEX12 Lisa Norbart reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859, Peroxisome biogenesis disorder 3B, MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 P3H1 Lisa Norbart reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17277775, 19088120, 27864101, 33737016, 18566967; Phenotypes: Osteogenesis imperfecta, type VIII, MIM#610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 ORAI1 Lisa Norbart reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844, 38982518; Phenotypes: Immunodeficiency 9, MIM#612782, Myopathy, tubular aggregate, 2, MIM#615883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 NDUFS1 Lisa Norbart reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24952175, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2274 PPA1 Zornitza Stark Marked gene: PPA1 as ready
Mendeliome v1.2274 PPA1 Zornitza Stark Gene: ppa1 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v1.48 PPA1 Zornitza Stark Marked gene: PPA1 as ready
Miscellaneous Metabolic Disorders v1.48 PPA1 Zornitza Stark Gene: ppa1 has been classified as Red List (Low Evidence).
Mendeliome v1.2274 PPA1 Zornitza Stark gene: PPA1 was added
gene: PPA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA1 were set to 37999237
Phenotypes for gene: PPA1 were set to Galactosaemia, MONDO:0018116
Review for gene: PPA1 was set to RED
Added comment: Homozygous missense variant detected in two siblings with increased galactose and galactose-related metabolites ascertained in neonatal screening. Some supportive functional data.
Sources: Literature
Miscellaneous Metabolic Disorders v1.48 PPA1 Zornitza Stark gene: PPA1 was added
gene: PPA1 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: PPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA1 were set to 37999237
Phenotypes for gene: PPA1 were set to Galactosaemia, MONDO:0018116
Review for gene: PPA1 was set to RED
Added comment: Homozygous missense variant detected in two siblings with increased galactose and galactose-related metabolites ascertained in neonatal screening. Some supportive functional data.
Sources: Literature
Prepair 1000+ v1.1397 MPL Zornitza Stark Marked gene: MPL as ready
Prepair 1000+ v1.1397 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1397 MPL Zornitza Stark Publications for gene: MPL were set to
Prepair 1000+ v1.1396 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Prepair 1000+ v1.1396 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1396 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency, 236250 (3) to Homocystinuria due to MTHFR deficiency, MIM# 236250
Prepair 1000+ v1.1395 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Prepair 1000+ v1.1394 MUT Zornitza Stark Marked gene: MUT as ready
Prepair 1000+ v1.1394 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Prepair 1000+ v1.1394 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, 251000 (3) to Methylmalonic aciduria, mut(0) type, MIM# 251000
Prepair 1000+ v1.1393 LDLRAP1 Zornitza Stark Marked gene: LDLRAP1 as ready
Prepair 1000+ v1.1393 LDLRAP1 Zornitza Stark Gene: ldlrap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1393 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive, 603813 (3) to Familial hypercholesterolemia 4, MIM#603813
Prepair 1000+ v1.1392 LDLRAP1 Zornitza Stark Publications for gene: LDLRAP1 were set to
Prepair 1000+ v1.1391 LEP Zornitza Stark Marked gene: LEP as ready
Prepair 1000+ v1.1391 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Prepair 1000+ v1.1391 LEP Zornitza Stark Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962 (3) to Obesity, morbid, due to leptin deficiency, MIM#614962
Prepair 1000+ v1.1390 LEP Zornitza Stark Publications for gene: LEP were set to
Prepair 1000+ v1.1389 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Prepair 1000+ v1.1389 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1389 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3) to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Prepair 1000+ v1.1388 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Mendeliome v1.2273 DMRT1 Zornitza Stark Phenotypes for gene: DMRT1 were changed from Azoospermia to 46,XY disorder of sex development, MONDO:0020040
Mendeliome v1.2272 DMRT1 Zornitza Stark Classified gene: DMRT1 as Amber List (moderate evidence)
Mendeliome v1.2272 DMRT1 Zornitza Stark Gene: dmrt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2271 DMRT1 Zornitza Stark edited their review of gene: DMRT1: Added comment: DMRT1 gene exclusively expressed in male gonads. Thought not to affect ovarian development.
Gene included three international studies - see PMID: 28295047 supplemental article Fig 1 patient 19, 46XY with hypoplastic labia, uterus present had DMRT1 c.251A>G p.Tyr84Cys maternally inherited VOUS
PMID: 26005864: p.R111G also described in complete gonadal dysgenesis; Changed rating: AMBER; Changed publications: 31479588, 24934491, 29527098, 26005864, 28295047; Changed phenotypes: 46,XY disorder of sex development, MONDO:0020040
Differences of Sex Development v1.6 DMRT1 Zornitza Stark Publications for gene: DMRT1 were set to PMID: 31479588; 24934491; 29527098
Differences of Sex Development v1.5 DMRT1 Zornitza Stark Phenotypes for gene: DMRT1 were changed from Azoospermia to 46,XY disorder of sex development, MONDO:0020040
Differences of Sex Development v1.4 DMRT1 Zornitza Stark Classified gene: DMRT1 as Amber List (moderate evidence)
Differences of Sex Development v1.4 DMRT1 Zornitza Stark Gene: dmrt1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v1.3 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to 7951319
Prepair 1000+ v1.1387 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Prepair 1000+ v1.1387 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1387 LMBRD1 Zornitza Stark Phenotypes for gene: LMBRD1 were changed from Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) to Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380
Prepair 1000+ v1.1386 LMBRD1 Zornitza Stark Publications for gene: LMBRD1 were set to
Prepair 1000+ v1.1385 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Prepair 1000+ v1.1385 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1385 ZDHHC9 Zornitza Stark Phenotypes for gene: ZDHHC9 were changed from Mental retardation, X-linked syndromic, Raymond type, 300799 (3) to Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427
Prepair 1000+ v1.1384 ZDHHC9 Zornitza Stark Publications for gene: ZDHHC9 were set to
Prepair 1000+ v1.1383 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Prepair 1000+ v1.1383 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1383 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from Microphthalmia with coloboma 3, 610092 (3) to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Prepair 1000+ v1.1382 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Prepair 1000+ v1.1381 VPS53 Zornitza Stark Marked gene: VPS53 as ready
Prepair 1000+ v1.1381 VPS53 Zornitza Stark Gene: vps53 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1381 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from Pontocerebellar hypoplasia, type 2E, 615851 (3) to Pontocerebellar hypoplasia, type 2E, MIM#615851
Prepair 1000+ v1.1380 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Prepair 1000+ v1.1379 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Prepair 1000+ v1.1379 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1379 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive, 251200 (3) to Microcephaly 1, primary, autosomal recessive, MIM#251200
Prepair 1000+ v1.1378 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Prepair 1000+ v1.1377 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Prepair 1000+ v1.1377 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1377 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810
Prepair 1000+ v1.1376 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Prepair 1000+ v1.1375 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Prepair 1000+ v1.1375 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1375 MTO1 Zornitza Stark Phenotypes for gene: MTO1 were changed from Combined oxidative phosphorylation deficiency 10, 614702 (3) to Combined oxidative phosphorylation deficiency 10, MIM#614702
Prepair 1000+ v1.1374 MTO1 Zornitza Stark Publications for gene: MTO1 were set to
Prepair 1000+ v1.1373 MVK Zornitza Stark Marked gene: MVK as ready
Prepair 1000+ v1.1373 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1373 MVK Zornitza Stark Phenotypes for gene: MVK were changed from Mevalonic aciduria, 610377 (3) to Mevalonic aciduria, MIM#610377; Hyper-IgD syndrome, MIM#260920
Prepair 1000+ v1.1372 MVK Zornitza Stark Publications for gene: MVK were set to
Prepair 1000+ v1.1371 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Prepair 1000+ v1.1371 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1371 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 (3) to Cholestasis, progressive familial intrahepatic, 10, MIM#619868; Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850
Prepair 1000+ v1.1370 MYO5B Zornitza Stark Publications for gene: MYO5B were set to
Prepair 1000+ v1.1369 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Prepair 1000+ v1.1369 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1369 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243
Prepair 1000+ v1.1368 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Prepair 1000+ v1.1367 NDUFA10 Lisa Norbart reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MYO5B Lisa Norbart reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 27532546; Phenotypes: Cholestasis, progressive familial intrahepatic, 10, MIM#619868, Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MVK Lisa Norbart reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27012807, 16722536; Phenotypes: Mevalonic aciduria, MIM#610377, Hyper-IgD syndrome, MIM#260920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MTO1 Lisa Norbart reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, MIM#614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MPV17 Lisa Norbart reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22508010, 26437932, 30298599; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MCPH1 Lisa Norbart reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20978018, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM#251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 VPS53 Clare Hunt reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM#615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 VSX2 Clare Hunt reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 8630490, 17661825, 3378363, 10932181; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 ZDHHC9 Clare Hunt reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000327, 29681091, 28687527; Phenotypes: Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1367 LMBRD1 Lisa Norbart reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19136951; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v1.2 NR0B1 Tashunka Taylor-Miller reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28295047; Phenotypes: http://purl.obolibrary.org/obo/MONDO_0020040; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Differences of Sex Development v1.2 DMRT1 Tashunka Taylor-Miller reviewed gene: DMRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26005864, 28295047; Phenotypes: http://purl.obolibrary.org/obo/MONDO_0020040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.1367 IFT80 Clare Hunt reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263, MONDO:0012644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LEP Lisa Norbart reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26567097, 31483094; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM#614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LDLRAP1 Lisa Norbart reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Familial hypercholesterolemia 4, MIM#603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MUT Lauren Thomas changed review comment from: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:
• Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.
• Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.

HGNC approved symbol/name: MMUT *
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant
Known technical challenges? No
Gene reported in 3 independent families: Yes

* NOTE: gene previously called MUT; to: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:

• Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.

• Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.

HGNC approved symbol/name: MMUT *
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant
Known technical challenges? No
Gene reported in 3 independent families: Yes

* NOTE: gene previously called MUT
Prepair 1000+ v1.1367 MUT Lauren Thomas reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MTHFR Lauren Thomas changed review comment from: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: common variants not associated with severe disease are not reported; to: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Prepair 1000+ v1.1367 MTHFR Lauren Thomas reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25024447, 8456826; Phenotypes: Homocystinuria due to MTHFR deficiency, MIM# 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MPL Lauren Thomas reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 17054430, 16351641, 11133753; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LCA5 Zornitza Stark Marked gene: LCA5 as ready
Prepair 1000+ v1.1367 LCA5 Zornitza Stark Gene: lca5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1367 LCA5 Zornitza Stark Phenotypes for gene: LCA5 were changed from Leber congenital amaurosis 5, 604537 (3) to Leber congenital amaurosis 5, MIM# 604537
Prepair 1000+ v1.1366 LCA5 Zornitza Stark Publications for gene: LCA5 were set to
Prepair 1000+ v1.1365 MAN1B1 Zornitza Stark Marked gene: MAN1B1 as ready
Prepair 1000+ v1.1365 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1365 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from Mental retardation, autosomal recessive 15, 614202 (3) to Rafiq syndrome, MIM# 614202
Prepair 1000+ v1.1364 MAN1B1 Zornitza Stark Publications for gene: MAN1B1 were set to
Prepair 1000+ v1.1363 MAOA Zornitza Stark Marked gene: MAOA as ready
Prepair 1000+ v1.1363 MAOA Zornitza Stark Gene: maoa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1363 MAOA Zornitza Stark Phenotypes for gene: MAOA were changed from Brunner syndrome, 300615 (3) to Brunner syndrome, MIM# 300615
Prepair 1000+ v1.1362 MAOA Zornitza Stark Publications for gene: MAOA were set to
Prepair 1000+ v1.1361 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Prepair 1000+ v1.1361 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1361 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC syndrome 1, 257920 (3) to 3MC syndrome 1, MIM# 257920
Prepair 1000+ v1.1360 MASP1 Zornitza Stark Publications for gene: MASP1 were set to
Prepair 1000+ v1.1359 MPI Zornitza Stark Marked gene: MPI as ready
Prepair 1000+ v1.1359 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Prepair 1000+ v1.1359 MPI Zornitza Stark Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, 602579 (3) to Congenital disorder of glycosylation, type Ib, MIM# 602579
Prepair 1000+ v1.1358 MPI Zornitza Stark Publications for gene: MPI were set to
Prepair 1000+ v1.1357 MPI Lauren Thomas reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 32266963, 19101627, 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MASP1 Lauren Thomas reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106, 16096999; Phenotypes: 3MC syndrome 1, MIM# 257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MAOA Lauren Thomas reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519, 8503438, 37750385; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1357 MAN1B1 Lauren Thomas reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21763484, 26279649, 20345473; Phenotypes: Rafiq syndrome, MIM# 614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 LCA5 Lauren Thomas reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10631161, 12642313, 17546029; Phenotypes: Leber congenital amaurosis 5, MIM# 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 DCLRE1C Lauren Thomas changed review comment from: The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.

Homozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3.
*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin)

HGNC approved symbol/name: DCLRE1C
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges: ?most common variant is a deletion
Gene reported in 3 independent families: Yes

Note: ClinGen groups the 2 OMIM phenotypes into "severe combined immunodeficiency due to DCLRE1C deficiency"; to: The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.

Homozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3 (~59%)
*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin)

HGNC approved symbol/name: DCLRE1C
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges: ?most common variant is a deletion
Gene reported in 3 independent families: Yes

Note: ClinGen groups the 2 OMIM phenotypes into "severe combined immunodeficiency due to DCLRE1C deficiency"
Prepair 1000+ v1.1357 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Prepair 1000+ v1.1357 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1357 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from Athabaskan brainstem dysgenesis syndrome, 601536 (3) to Athabaskan brainstem dysgenesis syndrome, MIM#601536; Bosley-Salih-Alorainy syndrome, MIM#601536
Prepair 1000+ v1.1356 HOXA1 Zornitza Stark Publications for gene: HOXA1 were set to
Prepair 1000+ v1.1355 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Prepair 1000+ v1.1355 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1355 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease to HSD10 mitochondrial disease, MIM#300438
Prepair 1000+ v1.1354 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to
Prepair 1000+ v1.1353 IARS Zornitza Stark Marked gene: IARS as ready
Prepair 1000+ v1.1353 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1353 IARS Zornitza Stark Phenotypes for gene: IARS were changed from Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Prepair 1000+ v1.1352 IFNGR2 Zornitza Stark Marked gene: IFNGR2 as ready
Prepair 1000+ v1.1352 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1352 IFNGR2 Zornitza Stark Phenotypes for gene: IFNGR2 were changed from Immunodeficiency 28, mycobacteriosis, 614889 (3) to Immunodeficiency 28, mycobacteriosis, MIM#614889
Prepair 1000+ v1.1351 IFNGR2 Zornitza Stark Publications for gene: IFNGR2 were set to
Prepair 1000+ v1.1350 IL11RA Zornitza Stark Marked gene: IL11RA as ready
Prepair 1000+ v1.1350 IL11RA Zornitza Stark Gene: il11ra has been classified as Green List (High Evidence).
Prepair 1000+ v1.1350 IL11RA Zornitza Stark Phenotypes for gene: IL11RA were changed from Craniosynostosis and dental anomalies, 614188 (3) to Craniosynostosis and dental anomalies, MIM#614188
Prepair 1000+ v1.1349 IL11RA Zornitza Stark Publications for gene: IL11RA were set to
Nucleotide metabolism disorders v0.5 GUK1 Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Nucleotide metabolism disorders v0.4 GUK1 Zornitza Stark reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v1.20 GUK1 Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Rhabdomyolysis and Metabolic Myopathy v1.19 GUK1 Zornitza Stark reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.114 GUK1 Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Combined Immunodeficiency v1.113 GUK1 Zornitza Stark reviewed gene: GUK1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.967 GUK1 Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Mitochondrial disease v0.966 GUK1 Zornitza Stark reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2271 GUK1 Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Mendeliome v1.2270 GUK1 Zornitza Stark reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IL11RA Crystle Lee reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM#614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IFNGR2 Crystle Lee reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18625743, 31497017; Phenotypes: Immunodeficiency 28, mycobacteriosis, MIM#614889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IARS Crystle Lee reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 HSD17B10 Crystle Lee reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38841322, 22127393; 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)
Prepair 1000+ v1.1348 HOXA1 Crystle Lee reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18412118; Phenotypes: Athabaskan brainstem dysgenesis syndrome, MIM#601536, Bosley-Salih-Alorainy syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 FMR1 Zornitza Stark Marked gene: FMR1 as ready
Prepair 1000+ v1.1348 FMR1 Zornitza Stark Gene: fmr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1348 FMR1 Zornitza Stark Phenotypes for gene: FMR1 were changed from Fragile X syndrome to Fragile X syndrome, MIM #300624
Prepair 1000+ v1.1347 FMR1 Zornitza Stark Publications for gene: FMR1 were set to
Prepair 1000+ v1.1346 FMR1 Zornitza Stark reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1346 RSPH1 Zornitza Stark Marked gene: RSPH1 as ready
Prepair 1000+ v1.1346 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1346 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from Ciliary dyskinesia, primary, 24, 615481 (3) to Ciliary dyskinesia, primary, 24 MIM#615481
Prepair 1000+ v1.1345 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Prepair 1000+ v1.1344 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Prepair 1000+ v1.1344 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1344 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome, 602782 (3) to Histiocytosis-lymphadenopathy plus syndrome MIM#602782
Prepair 1000+ v1.1343 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Prepair 1000+ v1.1342 SUOX Zornitza Stark Marked gene: SUOX as ready
Prepair 1000+ v1.1342 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Prepair 1000+ v1.1342 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from Sulfite oxidase deficiency, 272300 (3) to Sulfite oxidase deficiency MIM#272300
Prepair 1000+ v1.1341 SUOX Zornitza Stark Publications for gene: SUOX were set to
Prepair 1000+ v1.1340 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Prepair 1000+ v1.1340 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1340 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, 608091 (3) to Joubert syndrome 2, MIM#608091; Meckel syndrome 2, MIM#603194; Retinitis pigmentosa 98, MIM#620996; ciliopathy MONDO:0005308
Prepair 1000+ v1.1339 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Prepair 1000+ v1.1338 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Prepair 1000+ v1.1338 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1338 TALDO1 Zornitza Stark Phenotypes for gene: TALDO1 were changed from Transaldolase deficiency, 606003 (3) to Transaldolase deficiency MIM#606003
Prepair 1000+ v1.1337 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
Prepair 1000+ v1.1336 TSFM Zornitza Stark Marked gene: TSFM as ready
Prepair 1000+ v1.1336 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Prepair 1000+ v1.1336 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from Combined oxidative phosphorylation deficiency 3, 610505 (3) to Combined oxidative phosphorylation deficiency 3, MIM#610505
Prepair 1000+ v1.1335 TSFM Zornitza Stark Publications for gene: TSFM were set to
Prepair 1000+ v1.1334 TWNK Zornitza Stark Marked gene: TWNK as ready
Prepair 1000+ v1.1334 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1334 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245; Perrault syndrome 5, MIM#616138
Prepair 1000+ v1.1333 TWNK Zornitza Stark Publications for gene: TWNK were set to
Prepair 1000+ v1.1332 UMPS Zornitza Stark Marked gene: UMPS as ready
Prepair 1000+ v1.1332 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Prepair 1000+ v1.1332 UMPS Zornitza Stark Phenotypes for gene: UMPS were changed from Orotic aciduria, 258900 (3) to Orotic aciduria, MIM#258900
Prepair 1000+ v1.1331 UMPS Zornitza Stark Publications for gene: UMPS were set to
Prepair 1000+ v1.1330 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Prepair 1000+ v1.1330 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1330 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16, 614465 (3) to Joubert syndrome 16, MIM#614465
Prepair 1000+ v1.1329 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Prepair 1000+ v1.1328 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Prepair 1000+ v1.1328 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1328 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from Senior-Loken syndrome 8, 616307 (3) to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Prepair 1000+ v1.1327 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Prepair 1000+ v1.1326 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Prepair 1000+ v1.1326 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1326 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from Alport syndrome 1, X-linked to Alport syndrome 1, X-linked, MIM#301050
Prepair 1000+ v1.1325 COL4A5 Zornitza Stark Publications for gene: COL4A5 were set to
Prepair 1000+ v1.1324 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Prepair 1000+ v1.1324 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1324 TMEM126A Zornitza Stark Phenotypes for gene: TMEM126A were changed from Optic atrophy 7, 612989 (3) to Optic atrophy 7 MIM#612989
Prepair 1000+ v1.1323 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to
Prepair 1000+ v1.1322 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Prepair 1000+ v1.1322 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1322 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6, 610688 (3) to COACH syndrome 1 MIM#216360; Joubert syndrome 6 MIM#610688; Meckel syndrome 3 MIM#607361; Nephronophthisis 11 MIM#613550
Prepair 1000+ v1.1321 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from Osteopetrosis, autosomal recessive 7, 612301 (3) to Osteopetrosis, autosomal recessive 7, MIM#612301
Prepair 1000+ v1.1319 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Prepair 1000+ v1.1318 TP53RK Zornitza Stark Marked gene: TP53RK as ready
Prepair 1000+ v1.1318 TP53RK Zornitza Stark Gene: tp53rk has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1318 TP53RK Zornitza Stark Tag for review tag was added to gene: TP53RK.
Prepair 1000+ v1.1318 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Prepair 1000+ v1.1318 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1318 TTC19 Zornitza Stark Phenotypes for gene: TTC19 were changed from Mitochondrial complex III deficiency, nuclear type 2, 615157 (3) to Mitochondrial complex III deficiency, nuclear type 2 MIM#615157
Prepair 1000+ v1.1317 TTC19 Zornitza Stark Publications for gene: TTC19 were set to
Prepair 1000+ v1.1316 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Prepair 1000+ v1.1316 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1316 RPE65 Zornitza Stark Phenotypes for gene: RPE65 were changed from Leber congenital amaurosis 2, 204100 (3) to Retinitis pigmentosa 20, MIM#613794; Leber congenital amaurosis 2, MIM#204100
Prepair 1000+ v1.1315 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Prepair 1000+ v1.1315 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1315 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Microcephaly v1.295 FLVCR1 Zornitza Stark Phenotypes for gene: FLVCR1 were changed from neurodevelopmental disorder MONDO:0700092, FLVCR1-related to Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060
Microcephaly v1.294 FLVCR1 Zornitza Stark reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2270 FLVCR1 Zornitza Stark Phenotypes for gene: FLVCR1 were changed from posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; neurodevelopmental disorder MONDO:0700092, FLVCR1-related to posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012177; Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060
Mendeliome v1.2269 FLVCR1 Zornitza Stark reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1314 POMP Zornitza Stark reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1314 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Prepair 1000+ v1.1314 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1314 RPS6KA3 Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, MIM#303600; Intellectual developmental disorder, X-linked 19; MIM#300844
Prepair 1000+ v1.1313 RPS6KA3 Zornitza Stark Publications for gene: RPS6KA3 were set to
Prepair 1000+ v1.1312 USB1 Zornitza Stark Marked gene: USB1 as ready
Prepair 1000+ v1.1312 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1312 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia, 604173 (3) to Poikiloderma with neutropenia MIM#604173
Prepair 1000+ v1.1311 USB1 Zornitza Stark Publications for gene: USB1 were set to
Prepair 1000+ v1.1310 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Prepair 1000+ v1.1310 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1310 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from Septooptic dysplasia, 182230 (3) to Septooptic dysplasia, MIM#182230; Pituitary hormone deficiency, combined, 5 MIM#182230; Growth hormone deficiency with pituitary anomalies, MIM#182230
Prepair 1000+ v1.1309 HESX1 Zornitza Stark Publications for gene: HESX1 were set to
Prepair 1000+ v1.1308 VMA21 Zornitza Stark Marked gene: VMA21 as ready
Prepair 1000+ v1.1308 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1308 VMA21 Zornitza Stark Phenotypes for gene: VMA21 were changed from Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive to Myopathy, X-linked, with excessive autophagy MIM#310440
Prepair 1000+ v1.1307 VMA21 Zornitza Stark Publications for gene: VMA21 were set to
Prepair 1000+ v1.1306 GHR Zornitza Stark Marked gene: GHR as ready
Prepair 1000+ v1.1306 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1306 GHR Zornitza Stark Phenotypes for gene: GHR were changed from Laron dwarfism, 262500 (3) to Laron dwarfism, MIM#262500
Prepair 1000+ v1.1305 GHR Zornitza Stark Publications for gene: GHR were set to
Prepair 1000+ v1.1304 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Prepair 1000+ v1.1304 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1304 WARS2 Zornitza Stark Phenotypes for gene: WARS2 were changed from Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710; Parkinsonism-dystonia 3, childhood-onset MIM#619738
Prepair 1000+ v1.1303 WARS2 Zornitza Stark Publications for gene: WARS2 were set to
Prepair 1000+ v1.1302 PTS Zornitza Stark Marked gene: PTS as ready
Prepair 1000+ v1.1302 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Prepair 1000+ v1.1302 PTS Zornitza Stark Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Prepair 1000+ v1.1301 PTS Zornitza Stark Publications for gene: PTS were set to
Prepair 1000+ v1.1300 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Prepair 1000+ v1.1300 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Prepair 1000+ v1.1300 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, 613861 (3) to Retinitis pigmentosa 59, MIM#613861; Congenital disorder of glycosylation, type 1bb, MIM# 613861
Prepair 1000+ v1.1299 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Prepair 1000+ v1.1298 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Prepair 1000+ v1.1298 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1298 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome, 222300 (3) to Wolfram syndrome 1 MIM#222300
Prepair 1000+ v1.1297 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Prepair 1000+ v1.1296 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Prepair 1000+ v1.1296 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1296 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3) to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Prepair 1000+ v1.1295 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Prepair 1000+ v1.1294 FLNA Zornitza Stark Marked gene: FLNA as ready
Prepair 1000+ v1.1294 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Prepair 1000+ v1.1294 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from FG syndrome 2, 300321 (3) to FG syndrome 2, MIM#300321; Frontometaphyseal dysplasia 1, MIM#305620; Heterotopia, periventricular, 1, MIM#300049; Intestinal pseudoobstruction, neuronal, MIM#300048; Melnick-Needles syndrome, MIM#309350; Otopalatodigital syndrome, type I, MIM#311300; Otopalatodigital syndrome, type II, MIM#304120; Terminal osseous dysplasia, MIM#300244
Prepair 1000+ v1.1293 FLNA Zornitza Stark Publications for gene: FLNA were set to
Prepair 1000+ v1.1292 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Prepair 1000+ v1.1292 POLA1 Zornitza Stark Gene: pola1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1292 POLA1 Zornitza Stark Publications for gene: POLA1 were set to
Prepair 1000+ v1.1291 POLA1 Zornitza Stark Tag for review tag was added to gene: POLA1.
Prepair 1000+ v1.1291 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Prepair 1000+ v1.1291 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1291 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300 (3) to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Prepair 1000+ v1.1290 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Prepair 1000+ v1.1289 EDA Zornitza Stark Marked gene: EDA as ready
Prepair 1000+ v1.1289 EDA Zornitza Stark Gene: eda has been classified as Green List (High Evidence).
Prepair 1000+ v1.1289 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100
Prepair 1000+ v1.1288 EDA Zornitza Stark Publications for gene: EDA were set to
Prepair 1000+ v1.1287 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Prepair 1000+ v1.1287 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1287 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from Vici syndrome, 242840 (3) to Vici syndrome MIM# 242840
Prepair 1000+ v1.1286 EPG5 Zornitza Stark Publications for gene: EPG5 were set to
Prepair 1000+ v1.1285 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Prepair 1000+ v1.1285 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1285 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive to Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756
Prepair 1000+ v1.1284 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Prepair 1000+ v1.1283 HES7 Zornitza Stark Marked gene: HES7 as ready
Prepair 1000+ v1.1283 HES7 Zornitza Stark Gene: hes7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1283 HES7 Zornitza Stark Phenotypes for gene: HES7 were changed from Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) to Spondylocostal dysostosis 4, autosomal recessive MIM#60859
Prepair 1000+ v1.1282 HES7 Zornitza Stark Publications for gene: HES7 were set to
Prepair 1000+ v1.1281 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Prepair 1000+ v1.1281 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1281 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3) to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084
Prepair 1000+ v1.1280 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Prepair 1000+ v1.1279 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Prepair 1000+ v1.1279 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1279 TSEN2 Zornitza Stark Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia type 2B, 612389 (3) to Pontocerebellar hypoplasia type 2B, MIM #612389
Prepair 1000+ v1.1278 TSEN2 Zornitza Stark Publications for gene: TSEN2 were set to
Prepair 1000+ v1.1277 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Prepair 1000+ v1.1277 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1277 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3) to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819
Prepair 1000+ v1.1276 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Prepair 1000+ v1.1275 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Prepair 1000+ v1.1275 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1275 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985 (3) to Bardet-Biedl syndrome 8, MIM #615985
Prepair 1000+ v1.1274 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Prepair 1000+ v1.1273 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Prepair 1000+ v1.1273 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1273 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3) to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270
Prepair 1000+ v1.1272 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Prepair 1000+ v1.1271 POMP Zornitza Stark Marked gene: POMP as ready
Prepair 1000+ v1.1271 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1271 POMP Zornitza Stark Publications for gene: POMP were set to
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Tag deep intronic tag was added to gene: TRIP11.
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Marked gene: TRIP11 as ready
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Gene: trip11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Phenotypes for gene: TRIP11 were changed from Achondrogenesis, type IA, 200600 (3) to Achondrogenesis, type IA, MIM#200600
Prepair 1000+ v1.1269 TRIP11 Zornitza Stark Publications for gene: TRIP11 were set to
Prepair 1000+ v1.1268 EDAR Clare Hunt edited their review of gene: EDAR: Changed phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1268 GJA1 Michelle Torres changed review comment from: The GJA1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant conditions are the AR disorders: Craniometaphyseal dysplasia MIM#218400; Oculodentodigital dysplasia MIM#257850.

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. Characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with CMD (PMID: 23951358). Reports are rare and individuals are homozygous for the p.(Arg239Gln), located in the C-terminus of the GJA1 gene; at least 4x families reported (PMID: 23951358).

Oculodentodigital dysplasia (ODDD) is a rare condition characterised by a typical facial appearance and variable findings of the eyes, teeth, and fingers (PMID: 29902798). ODDD is generally AD (DN and GoF suggested), but rare AR cases have been identified. LoF is associated with AR ODDD (PMID: 29902798), and most variants reported are PTV within the connexin domain (PMID: 34035645).

NB: the association with Hypoplastic left heart syndrome 1, MIM#241550 isn't listed in OMIM anymore, variants associated have been re-classified VUS (OMIM). Pfitzer C 2024 concludes that researchers must move beyond the expectation that a single disease-causing variant can be found (PMID 38884762).; to: The GJA1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant conditions are the AR disorders: Craniometaphyseal dysplasia MIM#218400; Oculodentodigital dysplasia MIM#257850.

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. Characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with CMD (PMID: 23951358). Reports are rare and individuals are homozygous for the p.(Arg239Gln), located in the C-terminus of the GJA1 gene; at least 4x families reported (PMID: 23951358).

Oculodentodigital dysplasia (ODDD) is a rare condition characterised by a typical facial appearance and variable findings of the eyes, teeth, and fingers (PMID: 29902798). ODDD is generally AD (DN and GoF suggested), but rare AR cases have been identified. LoF is associated with AR ODDD (PMID: 29902798), and most variants reported are PTV within the connexin domain (PMID: 34035645).

NB: the association with Hypoplastic left heart syndrome 1, MIM#241550 isn't listed in OMIM anymore, variants associated have been re-classified VUS (OMIM; PMID 38884762).
Mackenzie's Mission_Reproductive Carrier Screening v0.109 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.109 ISCA1 Zornitza Stark Gene: isca1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.109 ISCA1 Zornitza Stark Tag for review tag was added to gene: ISCA1.
Prepair 1000+ v1.1268 IL12RB1 Lauren Thomas edited their review of gene: IL12RB1: Changed rating: GREEN
Prepair 1000+ v1.1268 COL7A1 Michelle Torres changed review comment from: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering.; to: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering. As noted above, genotype-phenotype correlation is unclear.
Prepair 1000+ v1.1268 COL7A1 Michelle Torres changed review comment from: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering. Relevance for Prepair requires discussion.; to: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering.
Prepair 1000+ v1.1268 POMP Lucy Spencer reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32425927; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1268 TYK2 Zornitza Stark Marked gene: TYK2 as ready
Prepair 1000+ v1.1268 TYK2 Zornitza Stark Gene: tyk2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1268 TYK2 Zornitza Stark Phenotypes for gene: TYK2 were changed from Immunodeficiency 35, 611521 (3) to Immunodeficiency 35, MIM #611521
Prepair 1000+ v1.1267 TYK2 Zornitza Stark Publications for gene: TYK2 were set to
Prepair 1000+ v1.1266 UBE2A Zornitza Stark Marked gene: UBE2A as ready
Prepair 1000+ v1.1266 UBE2A Zornitza Stark Gene: ube2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1266 UBE2A Zornitza Stark Phenotypes for gene: UBE2A were changed from Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) to Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860
Prepair 1000+ v1.1265 UBE2A Zornitza Stark Publications for gene: UBE2A were set to
Prepair 1000+ v1.1264 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Prepair 1000+ v1.1264 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1264 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 (3) to Glycogen storage disease IV, MIM#232500
Prepair 1000+ v1.1263 GCDH Zornitza Stark Marked gene: GCDH as ready
Prepair 1000+ v1.1263 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1263 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I, 231670 (3) to Glutaric aciduria, type I, MIM#231670
Prepair 1000+ v1.1262 GCDH Zornitza Stark Publications for gene: GCDH were set to
Prepair 1000+ v1.1261 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Prepair 1000+ v1.1261 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Prepair 1000+ v1.1261 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620
Prepair 1000+ v1.1260 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Prepair 1000+ v1.1259 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Prepair 1000+ v1.1259 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1259 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317
Prepair 1000+ v1.1258 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Prepair 1000+ v1.1257 WDR62 Kate Scarff reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20890279, 20890278, 20729831, 21496009, 21834044, 22775483, 32677750; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HIBCH Crystle Lee reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33762937; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GCDH Crystle Lee reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31788423, 37020324; Phenotypes: Glutaric aciduria, type I, MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GBE1 Crystle Lee reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 UBE2A Kate Scarff reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16909393, 24053514, 21108393, 20412111; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 TYK2 Kate Scarff reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17088085, 26304966, 34569645, 32537443; Phenotypes: Immunodeficiency 35, MIM #611521; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TUBGCP6 Kate Scarff reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25344692, 22279524, 39634241, 37927319, 37031378; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC8 Kate Scarff reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM #615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC21B Kate Scarff reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21258341, 25492405, 33875766; Phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TSEN2 Kate Scarff reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23562994, 20952379, 18711368; Phenotypes: Pontocerebellar hypoplasia type 2B, MIM #612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRNT1 Kate Scarff reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25193871, 23553769, 27389523, 29170023; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HES7 Clare Hunt reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#60859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HACE1 Clare Hunt reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 26424145, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 EPG5 Melanie Marty reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 EDA Melanie Marty reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27144394, 8696334, 9507389, 9683615, 18657636; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 DOK7 Melanie Marty reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392, 34132406, 37849383; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 POLA1 Michelle Torres reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked MIM#301220, Van Esch-O'Driscoll syndrome MIM#301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 FLNA Crystle Lee reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089473, 26471271, 22366253; Phenotypes: Cardiac valvular dysplasia, X-linked, MIM#314400, Congenital short bowel syndrome, MIM#300048, Frontometaphyseal dysplasia 1, MIM#305620, Heterotopia, periventricular, 1, MIM#300049, Intestinal pseudoobstruction, neuronal, MIM#300048, Melnick-Needles syndrome, MIM#309350, Otopalatodigital syndrome, type I, MIM#311300, Otopalatodigital syndrome, type II, MIM#304120, Terminal osseous dysplasia, MIM#300244; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 YIF1B Michelle Torres reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32006098, 26077767, 33103737, 36948290, 34373908, 39265055; Phenotypes: Kaya-Barakat-Masson syndrome MIM#619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RETREG1 Marta Cifuentes Ochoa reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 WFS1 Michelle Torres reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301750, 33946243; Phenotypes: Wolfram syndrome 1 MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 DHDDS Crystle Lee reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27343064, 21295282; Phenotypes: Retinitis pigmentosa 59, MIM#613861, Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 PTS Marta Cifuentes Ochoa reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 36583021, 36212127, 19830588, 22237589; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640, BH4-deficient hyperphenylalaninemia A, MONDO:0009863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 WARS2 Michelle Torres reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37107582, 37824696; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710, Parkinsonism-dystonia 3, childhood-onset MIM#619738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GHR Crystle Lee reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 37474955, 20583548, 31429861; Phenotypes: Laron dwarfism, MIM#262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 VMA21 Michelle Torres reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 27916343, 25809233, 23315026, 36553512; Phenotypes: Myopathy, X-linked, with excessive autophagy MIM#310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 HESX1 Crystle Lee reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16940453; Phenotypes: Septooptic dysplasia, MIM#182230, Pituitary hormone deficiency, combined, 5 MIM#182230, Growth hormone deficiency with pituitary anomalies, MIM#182230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 USB1 Michelle Torres reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29072891; Phenotypes: Poikiloderma with neutropenia MIM#604173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RPS6KA3 Crystle Lee reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16879200; Phenotypes: Coffin-Lowry syndrome, MIM#303600, Intellectual developmental disorder, X-linked 19, MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 TYRP1 Michelle Torres reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097, 25093188; Phenotypes: Albinism, oculocutaneous, type III MIM#203290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RPE65 Crystle Lee reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 20, MIM#613794, Leber congenital amaurosis 2, MIM#204100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC19 Michelle Torres reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 21278747, 23532514, 24368687, 24397319, 25887401; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2 MIM#615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRAC Michelle Torres reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient MIM#615387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TP53RK Michelle Torres reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4 MIM#617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TNFRSF11A Michelle Torres reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 36031188; Phenotypes: Osteopetrosis, autosomal recessive 7 MIM#612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM67 Michelle Torres reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 29891882, 20232449, 26092869, 27336129; Phenotypes: COACH syndrome 1 MIM#216360, Joubert syndrome 6 MIM#610688, Meckel syndrome 3 MIM#607361, Nephronophthisis 11 MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRIP11 Kate Scarff reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20089971, 29872333, 31903676, 34057271, 34014608; Phenotypes: Achondrogenesis, type IA, MIM #200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM126A Michelle Torres reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33879611; Phenotypes: Optic atrophy 7 MIM#612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 COL4A5 Crystle Lee reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36531881, 19965530, 36341250; Phenotypes: Alport syndrome 1, X-linked, MIM#301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 WDR19 Crystle Lee reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 38163131, 22019273; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM138 Kate Scarff changed review comment from: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).; to: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).
MIM #614465
Prepair 1000+ v1.1257 UMPS Crystle Lee reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28205048, 33489760; Phenotypes: Orotic aciduria, MIM#258900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM138 Kate Scarff reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22282472, 34354814, 20301500; Phenotypes: Joubert syndrome 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TWNK Crystle Lee changed review comment from: Gene also know as C10ORF2.

MTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM)

PMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations

Allelic conditions, Perrault syndrome is less severe than MTDPS7.; to: Gene also know as C10ORF2.

MTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM)

PMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations

Allelic conditions, Perrault syndrome is less severe than MTDPS7.
Prepair 1000+ v1.1257 TWNK Crystle Lee reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31852434, 35035228; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245, Perrault syndrome 5, MIM#616138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TSFM Crystle Lee reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 33816677, 31267352, 30911037, 27677415; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TALDO1 Michelle Torres reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25388407, 23315216, 29923087, 26238251, 11283793, 30740741; Phenotypes: Transaldolase deficiency MIM#606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM216 Crystle Lee reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20512146; Phenotypes: Joubert syndrome 2, MIM#608091, Meckel syndrome 2, MIM#603194, Retinitis pigmentosa 98, MIM#620996, ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 SUOX Michelle Torres reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: Sulfite oxidase deficiency MIM#272300; Phenotypes: 9428520, 15952210, 31127934, 39676698, 36303223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 SLC29A3 Michelle Torres reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20619369, 34657628, 18940313, 19336477, 22238637; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome MIM#602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RSPH1 Michelle Torres reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197, 24568568; Phenotypes: Ciliary dyskinesia, primary, 24 MIM#615481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Prepair 1000+ v1.1257 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1257 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2, 606744 (3) to Jawad syndrome MIM#251255; Seckel syndrome 2 MIM#606744
Prepair 1000+ v1.1256 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Prepair 1000+ v1.1255 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Prepair 1000+ v1.1255 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1255 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181 (3) to Aicardi-Goutieres syndrome 2 MIM#610181
Prepair 1000+ v1.1254 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Prepair 1000+ v1.1253 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Prepair 1000+ v1.1253 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Prepair 1000+ v1.1253 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3) to RNU4ATAC spectrum disorder MONDO:0100558
Prepair 1000+ v1.1252 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to
Prepair 1000+ v1.1251 RNU4ATAC Zornitza Stark Tag for review tag was added to gene: RNU4ATAC.
Prepair 1000+ v1.1251 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Prepair 1000+ v1.1251 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1251 ROBO3 Zornitza Stark Phenotypes for gene: ROBO3 were changed from Gaze palsy, horizontal, with progressive scoliosis, 607313 (3) to Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313
Prepair 1000+ v1.1250 ROBO3 Zornitza Stark Publications for gene: ROBO3 were set to
Prepair 1000+ v1.1249 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
Prepair 1000+ v1.1249 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1249 NPHS1 Zornitza Stark Phenotypes for gene: NPHS1 were changed from Nephrotic syndrome, type 1, 256300 (3) to Nephrotic syndrome, type 1, MIM# 256300
Prepair 1000+ v1.1248 NPHS1 Zornitza Stark Publications for gene: NPHS1 were set to
Prepair 1000+ v1.1247 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Prepair 1000+ v1.1247 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1247 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from 3-methylglutaconic aciduria, type III, 258501 (3) to 3-methylglutaconic aciduria, type III MIM#258501; 3-methylglutaconic aciduria type 3 MONDO:0009787
Prepair 1000+ v1.1246 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Prepair 1000+ v1.1245 RORC Zornitza Stark Marked gene: RORC as ready
Prepair 1000+ v1.1245 RORC Zornitza Stark Gene: rorc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1245 RORC Zornitza Stark Phenotypes for gene: RORC were changed from Immunodeficiency 42, 616622 (3), Autosomal recessive to Immunodeficiency 42 MIM#616622
Prepair 1000+ v1.1244 RORC Zornitza Stark Publications for gene: RORC were set to
Prepair 1000+ v1.1243 PCCB Zornitza Stark Marked gene: PCCB as ready
Prepair 1000+ v1.1243 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1243 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from Propionicacidemia, 606054 (3) to Propionicacidemia MIM#606054; propionic acidemia MONDO:0011628
Prepair 1000+ v1.1242 PCCB Zornitza Stark Publications for gene: PCCB were set to
Prepair 1000+ v1.1241 PCYT1A Zornitza Stark Marked gene: PCYT1A as ready
Prepair 1000+ v1.1241 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1241 PCYT1A Zornitza Stark Phenotypes for gene: PCYT1A were changed from Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3) to Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940
Prepair 1000+ v1.1240 PCYT1A Zornitza Stark Publications for gene: PCYT1A were set to
Prepair 1000+ v1.1239 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Prepair 1000+ v1.1239 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1239 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7A (Zellweger), 614872 to Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938; Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939
Prepair 1000+ v1.1238 PEX26 Zornitza Stark Publications for gene: PEX26 were set to
Prepair 1000+ v1.1237 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Prepair 1000+ v1.1237 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1237 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease, 312080 (3) to Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714; Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733
Prepair 1000+ v1.1236 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Prepair 1000+ v1.1235 PROC Marta Cifuentes Ochoa reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31577252, 32980846; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive MIM#612304, MONDO:0012860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PLP1 Marta Cifuentes Ochoa reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301361, 22343157, 24095575; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714, Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1235 PEX26 Marta Cifuentes Ochoa reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717447, 15858711, 17336976; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938, Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PCYT1A Marta Cifuentes Ochoa reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28272537, 24387990, 24387991, 24889630; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PCCB Marta Cifuentes Ochoa reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7386459, 9683601, 10502773, 35296328; Phenotypes: Propionicacidemia MIM#606054, propionic acidemia MONDO:0011628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RORC Michelle Torres reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376, 32960152; Phenotypes: Immunodeficiency 42 MIM#616622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 OPA3 Marta Cifuentes Ochoa reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31928268, 39166438, 11668429; Phenotypes: 3-methylglutaconic aciduria, type III MIM#258501, 3-methylglutaconic aciduria type 3 MONDO:0009787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 NPHS1 Marta Cifuentes Ochoa reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 10972661; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300, congenital nephrotic syndrome, Finnish type MONDO:0009732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoimmune Lymphoproliferative Syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Autoimmune Lymphoproliferative Syndrome v0.32 RASGRP1 Zornitza Stark Marked gene: RASGRP1 as ready
Autoimmune Lymphoproliferative Syndrome v0.32 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).
Autoimmune Lymphoproliferative Syndrome v0.32 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Autoimmune Lymphoproliferative Syndrome v0.32 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Immunological disorders_SuperPanel v12.31 Zornitza Stark Changed child panels to: Autoinflammatory Disorders; Combined Immunodeficiency; Bone Marrow Failure; Phagocyte Defects; Defects of intrinsic and innate immunity; Common Variable Immunodeficiency; Severe Combined Immunodeficiency (absent T present B cells); Severe Combined Immunodeficiency (absent T absent B cells); Susceptibility to Fungal Infections; Hereditary angioedema; Disorders of immune dysregulation; Predominantly Antibody Deficiency; Susceptibility to Viral Infections; Inflammatory bowel disease; Complement Deficiencies; Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome v0.32 Zornitza Stark Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 MGA Zornitza Stark Marked gene: MGA as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 MGA Zornitza Stark Gene: mga has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 MGA Zornitza Stark Classified gene: MGA as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.339 MGA Zornitza Stark Gene: mga has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.338 MGA Zornitza Stark gene: MGA was added
gene: MGA was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: MGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MGA were set to 39545409
Phenotypes for gene: MGA were set to Premature ovarian failure 26, MIM# 621065
Review for gene: MGA was set to AMBER
Added comment: Association with POF: LoF variants enriched in a large POF cohort. Familial testing in a small number of families performed. Mouse model supportive. Also borderline Amber/Green. Amber rating until phenotypes and mechanisms of disease for these two associations clarified.
Sources: Literature
Mendeliome v1.2269 MGA Zornitza Stark Marked gene: MGA as ready
Mendeliome v1.2269 MGA Zornitza Stark Gene: mga has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2269 MGA Zornitza Stark Classified gene: MGA as Amber List (moderate evidence)
Mendeliome v1.2269 MGA Zornitza Stark Gene: mga has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.50 MGA Zornitza Stark Classified gene: MGA as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.50 MGA Zornitza Stark Gene: mga has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2268 MGA Zornitza Stark gene: MGA was added
gene: MGA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MGA were set to 39600096; 20044811; 39545409
Phenotypes for gene: MGA were set to Syndromic disease, MONDO:0002254, MGA-related; Premature ovarian failure 26, MIM# 621065
Review for gene: MGA was set to AMBER
Added comment: Association with syndromic disease: Three individuals with de novo LoF variants reported in individuals with ID and congenital anomalies. Zebrafish model supports role of this transcription factor in organogenesis. Note there are previous, less clear reports of association with NDD/CHD. Gene is constrained for LoF variants in gnomad v4; however, note there are ~30 individuals with LoF variants present. Borderline Green/Amber.

Association with POF: LoF variants enriched in a large POF cohort. Familial testing in a small number of families performed. Mouse model supportive. Also borderline Amber/Green.

Amber rating until phenotypes and mechanisms of disease for these two associations clarified.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.49 MGA Zornitza Stark edited their review of gene: MGA: Added comment: Note LoF variants now also associated with POF, supportive mouse model. Downgrade to Amber until further delineation of phenotypes and mechanisms.; Changed rating: AMBER
Mendeliome v1.2267 USP25 Zornitza Stark Phenotypes for gene: USP25 were changed from USP25-related epilepsy (epilepsy, idiopathic generalized, MONDO:0005579) to {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064
Genetic Epilepsy v1.103 USP25 Zornitza Stark Phenotypes for gene: USP25 were changed from Epilepsy, idiopathic generalized, MONDO:0005579, USP25-related to {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064
Genetic Epilepsy v1.102 USP25 Zornitza Stark edited their review of gene: USP25: Changed phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064
Prepair 1000+ v1.1235 ROBO3 Michelle Torres reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16525029, 15105459; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RNU4ATAC Michelle Torres reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36795902, 26522830; Phenotypes: RNU4ATAC spectrum disorder MONDO:0100558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RNASEH2B Michelle Torres reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2 MIM#610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RBBP8 Michelle Torres reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333564, 24440292, 21998596, 24389050, 34270086; Phenotypes: Jawad syndrome MIM#251255, Seckel syndrome 2 MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2266 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 to Microcephaly 26, primary, autosomal dominant, MIM# 619179; Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis; Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Mendeliome v1.2265 LMNB1 Zornitza Stark edited their review of gene: LMNB1: Changed phenotypes: Microcephaly 26, primary, autosomal dominant, MIM# 619179, Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis, Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500, Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Leukodystrophy - adult onset v0.143 LMNB1 Zornitza Stark Phenotypes for gene: LMNB1 were changed from Leukodystrophy, adult-onset, autosomal dominant, 169500 to Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Leukodystrophy - adult onset v0.142 LMNB1 Zornitza Stark Mode of inheritance for gene: LMNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - adult onset v0.141 LMNB1 Zornitza Stark edited their review of gene: LMNB1: Changed phenotypes: Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500, Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Fetal anomalies v1.306 HYAL2 Zornitza Stark Phenotypes for gene: HYAL2 were changed from Cleft lip and palate; cor triatriatum; congenital cardiac malformations to Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063
Clefting disorders v0.259 HYAL2 Zornitza Stark Phenotypes for gene: HYAL2 were changed from Cleft lip and palate; cor triatriatum; congenital cardiac malformations to Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063
Mendeliome v1.2265 HYAL2 Zornitza Stark Phenotypes for gene: HYAL2 were changed from Cleft lip and palate; cor triatriatum; congenital cardiac malformations to Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063
Congenital Heart Defect v0.430 HYAL2 Zornitza Stark Phenotypes for gene: HYAL2 were changed from Cleft lip and palate; cor triatriatum; congenital cardiac malformations to Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063
Congenital Heart Defect v0.429 HYAL2 Zornitza Stark reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.302 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Skeletal dysplasia v0.302 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.302 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Skeletal dysplasia v0.301 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Classified gene: GTF3C3 as Green List (high evidence)
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Classified gene: GTF3C3 as Green List (high evidence)
Genetic Epilepsy v1.102 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.101 GTF3C3 Zornitza Stark Marked gene: GTF3C3 as ready
Genetic Epilepsy v1.101 GTF3C3 Zornitza Stark Gene: gtf3c3 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.101 GTF3C3 Zornitza Stark reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Prepair 1000+ v1.1235 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1235 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from Peroxisome biogenesis disorder 8A, (Zellweger), 614876 to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Peroxisome biogenesis disorder 8B MIM#614877
Prepair 1000+ v1.1234 PEX16 Zornitza Stark Publications for gene: PEX16 were set to
Prepair 1000+ v1.1233 PHYH Zornitza Stark Marked gene: PHYH as ready
Prepair 1000+ v1.1233 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1233 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease, 266500 (3) to Refsum disease MIM#266500
Prepair 1000+ v1.1232 PHYH Zornitza Stark Publications for gene: PHYH were set to
Prepair 1000+ v1.1231 PIGL Zornitza Stark Marked gene: PIGL as ready
Prepair 1000+ v1.1231 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1231 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from CHIME syndrome, 280000 (3) to CHIME syndrome, MIM# 280000, MONDO:0010221
Prepair 1000+ v1.1230 PIGL Zornitza Stark Publications for gene: PIGL were set to
Prepair 1000+ v1.1229 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1229 PYROXD1 Zornitza Stark Marked gene: PYROXD1 as ready
Prepair 1000+ v1.1229 PYROXD1 Zornitza Stark Gene: pyroxd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1229 PYROXD1 Zornitza Stark Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive to Myopathy, myofibrillar, 8 MIM#617258
Prepair 1000+ v1.1228 PYROXD1 Zornitza Stark Publications for gene: PYROXD1 were set to
Prepair 1000+ v1.1227 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Prepair 1000+ v1.1227 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1227 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 6, MIM #618228
Prepair 1000+ v1.1226 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Prepair 1000+ v1.1225 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Prepair 1000+ v1.1225 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1225 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from Sialidosis, type I, 256550 (3) to Sialidosis, type I, MIM #256550; Sialidosis, type II, MIM #256550
Prepair 1000+ v1.1224 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Prepair 1000+ v1.1223 NEXMIF Zornitza Stark Marked gene: NEXMIF as ready
Prepair 1000+ v1.1223 NEXMIF Zornitza Stark Gene: nexmif has been classified as Green List (High Evidence).
Prepair 1000+ v1.1223 NEXMIF Zornitza Stark Phenotypes for gene: NEXMIF were changed from Mental retardation, X-linked 98, MIM #300912 to Intellectual developmental disorder, X-linked 98, MIM #300912
Prepair 1000+ v1.1222 NEXMIF Zornitza Stark Publications for gene: NEXMIF were set to
Prepair 1000+ v1.1221 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Prepair 1000+ v1.1221 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1221 XYLT1 Zornitza Stark Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 (3) to Desbuquois dysplasia 2, MIM#615777
Prepair 1000+ v1.1220 XYLT1 Zornitza Stark Publications for gene: XYLT1 were set to
Prepair 1000+ v1.1219 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Prepair 1000+ v1.1219 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1219 NSDHL Zornitza Stark Phenotypes for gene: NSDHL were changed from CK syndrome, 300831 (3) to CK syndrome, MIM#300831
Prepair 1000+ v1.1218 NSDHL Zornitza Stark Publications for gene: NSDHL were set to
Prepair 1000+ v1.1217 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Prepair 1000+ v1.1217 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1217 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3) to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM#612847
Prepair 1000+ v1.1216 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Prepair 1000+ v1.1215 KRT8 Zornitza Stark Marked gene: KRT8 as ready
Prepair 1000+ v1.1215 KRT8 Zornitza Stark Gene: krt8 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1215 KRT8 Zornitza Stark Phenotypes for gene: KRT8 were changed from CIRRHOSIS, FAMILIAL, MIM #215600 to Cirrhosis, cryptogenic, MIM#215600
Prepair 1000+ v1.1214 PDHB Zornitza Stark Marked gene: PDHB as ready
Prepair 1000+ v1.1214 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1214 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111
Prepair 1000+ v1.1213 PDHB Zornitza Stark Publications for gene: PDHB were set to
Prepair 1000+ v1.1212 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Prepair 1000+ v1.1212 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1212 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from Peroxisome biogenesis disorder 5A (Zellweger), 614866 to Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866; Peroxisome biogenesis disorder 5B, MIM#614867
Prepair 1000+ v1.1211 PEX2 Zornitza Stark Publications for gene: PEX2 were set to
Prepair 1000+ v1.1210 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Prepair 1000+ v1.1210 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1210 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) to Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207
Prepair 1000+ v1.1209 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Prepair 1000+ v1.1208 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Prepair 1000+ v1.1208 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1208 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger), 214100 to Peroxisome biogenesis disorder 1A (Zellweger), MIM#214100
Prepair 1000+ v1.1207 PEX1 Zornitza Stark Publications for gene: PEX1 were set to
Prepair 1000+ v1.1206 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Prepair 1000+ v1.1206 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1206 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7, 610951 (3) to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
Prepair 1000+ v1.1205 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Prepair 1000+ v1.1204 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Prepair 1000+ v1.1204 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1204 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from Hyperphosphatasia with mental retardation syndrome 4, 615716 (3) to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Prepair 1000+ v1.1203 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Prepair 1000+ v1.1202 MID1 Zornitza Stark Marked gene: MID1 as ready
Prepair 1000+ v1.1202 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1202 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from Opitz GBBB syndrome, type I, 300000 (3) to Opitz GBBB syndrome MIM#300000; MONDO:0017138
Prepair 1000+ v1.1201 MID1 Zornitza Stark Publications for gene: MID1 were set to
Prepair 1000+ v1.1200 MMP21 Zornitza Stark Marked gene: MMP21 as ready
Prepair 1000+ v1.1200 MMP21 Zornitza Stark Gene: mmp21 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1200 MMP21 Zornitza Stark Phenotypes for gene: MMP21 were changed from Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive to Heterotaxy, visceral, 7, autosomal MIM#616749; MONDO:0014762
Prepair 1000+ v1.1199 MMP21 Zornitza Stark Publications for gene: MMP21 were set to
Prepair 1000+ v1.1198 PIH1D3 Zornitza Stark Marked gene: PIH1D3 as ready
Prepair 1000+ v1.1198 PIH1D3 Zornitza Stark Gene: pih1d3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1198 PIH1D3 Zornitza Stark Phenotypes for gene: PIH1D3 were changed from Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive to Ciliary dyskinesia, primary, 36, X-linked, MIM #300991
Prepair 1000+ v1.1197 PIH1D3 Zornitza Stark Publications for gene: PIH1D3 were set to
Prepair 1000+ v1.1196 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Prepair 1000+ v1.1196 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1196 NARS2 Zornitza Stark Phenotypes for gene: NARS2 were changed from Combined oxidative phosphorylation deficiency 24, 616239 (3) to Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547
Prepair 1000+ v1.1195 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Prepair 1000+ v1.1194 NNT Zornitza Stark Marked gene: NNT as ready
Prepair 1000+ v1.1194 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1194 NNT Zornitza Stark Phenotypes for gene: NNT were changed from Glucocorticoid deficiency 4, 614736 (3) to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; MONDO:0013874
Prepair 1000+ v1.1193 NNT Zornitza Stark Publications for gene: NNT were set to
Prepair 1000+ v1.1192 PSAP Zornitza Stark Marked gene: PSAP as ready
Prepair 1000+ v1.1192 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Prepair 1000+ v1.1192 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) to Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900
Prepair 1000+ v1.1191 PSAP Zornitza Stark Publications for gene: PSAP were set to
Prepair 1000+ v1.1190 RAB33B Zornitza Stark Marked gene: RAB33B as ready
Prepair 1000+ v1.1190 RAB33B Zornitza Stark Gene: rab33b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1190 RAB33B Zornitza Stark Phenotypes for gene: RAB33B were changed from Smith-McCort dysplasia 2, 615222 (3) to Smith-McCort dysplasia 2, MIM #615222
Prepair 1000+ v1.1189 RAB33B Zornitza Stark Publications for gene: RAB33B were set to
Prepair 1000+ v1.1188 RAB39B Zornitza Stark Marked gene: RAB39B as ready
Prepair 1000+ v1.1188 RAB39B Zornitza Stark Gene: rab39b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1188 RAB39B Zornitza Stark Phenotypes for gene: RAB39B were changed from Mental retardation, X-linked 72, 300271 (3) to Intellectual developmental disorder, X-linked 72, MIM #300271
Prepair 1000+ v1.1187 RAB39B Zornitza Stark Publications for gene: RAB39B were set to
Prepair 1000+ v1.1186 RARS Zornitza Stark Marked gene: RARS as ready
Prepair 1000+ v1.1186 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1186 RARS Zornitza Stark Phenotypes for gene: RARS were changed from Leukodystrophy, hypomyelinating, 9, 616140 (3) to Leukodystrophy, hypomyelinating, 9, MIM#616140
Prepair 1000+ v1.1185 RARS Zornitza Stark Publications for gene: RARS were set to
Prepair 1000+ v1.1184 RAX Zornitza Stark Marked gene: RAX as ready
Prepair 1000+ v1.1184 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Prepair 1000+ v1.1184 RAX Zornitza Stark Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, 611038 (3) to Microphthalmia, syndromic 16, MIM #611038
Prepair 1000+ v1.1183 RAX Zornitza Stark Publications for gene: RAX were set to
Prepair 1000+ v1.1182 RBCK1 Zornitza Stark Marked gene: RBCK1 as ready
Prepair 1000+ v1.1182 RBCK1 Zornitza Stark Gene: rbck1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1182 RBCK1 Zornitza Stark Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3) to Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895
Prepair 1000+ v1.1181 RBCK1 Zornitza Stark Publications for gene: RBCK1 were set to
Prepair 1000+ v1.1180 RP2 Zornitza Stark Marked gene: RP2 as ready
Prepair 1000+ v1.1180 RP2 Zornitza Stark Gene: rp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1180 RP2 Zornitza Stark Phenotypes for gene: RP2 were changed from Retinitis pigmentosa 2, 312600 (3) to Retinitis pigmentosa 2, MIM#312600
Prepair 1000+ v1.1179 RP2 Zornitza Stark Publications for gene: RP2 were set to
Prepair 1000+ v1.1178 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Prepair 1000+ v1.1178 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1178 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, MIM #300523
Prepair 1000+ v1.1177 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Prepair 1000+ v1.1176 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Prepair 1000+ v1.1176 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1176 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3) to Anaemia, sideroblastic, 1, MIM #300751
Prepair 1000+ v1.1175 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to
Prepair 1000+ v1.1174 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Prepair 1000+ v1.1174 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1174 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, 269250 (3) to Schneckenbecken dysplasia, MIM#269250
Prepair 1000+ v1.1173 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Prepair 1000+ v1.1172 SPATA7 Zornitza Stark Marked gene: SPATA7 as ready
Prepair 1000+ v1.1172 SPATA7 Zornitza Stark Gene: spata7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1172 SPATA7 Zornitza Stark Phenotypes for gene: SPATA7 were changed from Leber congenital amaurosis 3, 604232 (3) to Leber congenital amaurosis 3, MIM #604232; Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232
Prepair 1000+ v1.1171 SPATA7 Zornitza Stark Publications for gene: SPATA7 were set to
Prepair 1000+ v1.1170 TAP1 Zornitza Stark Marked gene: TAP1 as ready
Prepair 1000+ v1.1170 TAP1 Zornitza Stark Gene: tap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1170 TAP1 Zornitza Stark Phenotypes for gene: TAP1 were changed from Bare lymphocyte syndrome, type I, 604571 (3) to MHC class I deficiency 1, MIM #604571
Prepair 1000+ v1.1169 TAP1 Zornitza Stark Publications for gene: TAP1 were set to
Prepair 1000+ v1.1168 TMEM107 Zornitza Stark Marked gene: TMEM107 as ready
Prepair 1000+ v1.1168 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1168 TMEM107 Zornitza Stark Phenotypes for gene: TMEM107 were changed from Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive to Orofaciodigital syndrome XVI, MIM#617563
Prepair 1000+ v1.1167 TMEM107 Zornitza Stark Publications for gene: TMEM107 were set to
Prepair 1000+ v1.1166 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Prepair 1000+ v1.1166 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1166 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from Pontocerebellar hypoplasia, type 6, 611523 (3) to Pontocerebellar hypoplasia, type 6, MIM#611523
Prepair 1000+ v1.1165 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Prepair 1000+ v1.1164 MOCS1 Zornitza Stark Marked gene: MOCS1 as ready
Prepair 1000+ v1.1164 MOCS1 Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1164 MOCS1 Zornitza Stark Phenotypes for gene: MOCS1 were changed from Molybdenum cofactor deficiency A, 252150 (3) to Molybdenum cofactor deficiency A, MIM#252150
Prepair 1000+ v1.1163 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to
Prepair 1000+ v1.1162 RDH12 Zornitza Stark Marked gene: RDH12 as ready
Prepair 1000+ v1.1162 RDH12 Zornitza Stark Gene: rdh12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1162 RDH12 Zornitza Stark Phenotypes for gene: RDH12 were changed from Leber congenital amaurosis 13, 612712 (3) to Leber congenital amaurosis 13, MIM#612712
Prepair 1000+ v1.1161 RDH12 Zornitza Stark Publications for gene: RDH12 were set to
Prepair 1000+ v1.1160 RFXANK Zornitza Stark Marked gene: RFXANK as ready
Prepair 1000+ v1.1160 RFXANK Zornitza Stark Gene: rfxank has been classified as Green List (High Evidence).
Prepair 1000+ v1.1160 RFXANK Zornitza Stark Phenotypes for gene: RFXANK were changed from MHC class II deficiency, complementation group B, 209920 (3) to MHC class II deficiency 2, MIM#620815
Prepair 1000+ v1.1159 RFXANK Zornitza Stark Publications for gene: RFXANK were set to
Prepair 1000+ v1.1158 MTR Zornitza Stark Marked gene: MTR as ready
Prepair 1000+ v1.1158 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1158 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Prepair 1000+ v1.1157 MTR Zornitza Stark Publications for gene: MTR were set to
Prepair 1000+ v1.1156 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Prepair 1000+ v1.1156 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1156 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from Combined oxidative phosphorylation deficiency 11, 614922 (3) to Combined oxidative phosphorylation deficiency 11, MIM#614922
Prepair 1000+ v1.1155 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Prepair 1000+ v1.1154 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Prepair 1000+ v1.1154 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1154 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, 252011 (3) to Mitochondrial complex II deficiency, nuclear type 2, MIM#619166
Prepair 1000+ v1.1153 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Prepair 1000+ v1.1152 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Prepair 1000+ v1.1152 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1152 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
Prepair 1000+ v1.1151 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Prepair 1000+ v1.1150 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Prepair 1000+ v1.1150 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1150 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145
Prepair 1000+ v1.1149 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Prepair 1000+ v1.1148 STX11 Zornitza Stark Marked gene: STX11 as ready
Prepair 1000+ v1.1148 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1148 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Prepair 1000+ v1.1147 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) to Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Prepair 1000+ v1.1146 STX11 Zornitza Stark Publications for gene: STX11 were set to
Prepair 1000+ v1.1145 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Prepair 1000+ v1.1145 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1145 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from N-terminal acetyltransferase deficiency, 300855 (3) to Ogden syndrome (MIM#300855); Syndromic microphthalmia 1 (MIM#309800)
Prepair 1000+ v1.1144 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Prepair 1000+ v1.1143 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Prepair 1000+ v1.1143 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1143 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from Epileptic encephalopathy, early infantile, 16, 615338 (3) to Deafness, autosomal recessive 86 MIM#614617; Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021
Prepair 1000+ v1.1142 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Prepair 1000+ v1.1141 NALCN Zornitza Stark Marked gene: NALCN as ready
Prepair 1000+ v1.1141 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1141 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3) to Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Prepair 1000+ v1.1140 NALCN Zornitza Stark Publications for gene: NALCN were set to
Prepair 1000+ v1.1139 NANS Zornitza Stark Marked gene: NANS as ready
Prepair 1000+ v1.1139 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Prepair 1000+ v1.1139 NANS Zornitza Stark Phenotypes for gene: NANS were changed from Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442)
Prepair 1000+ v1.1138 NANS Zornitza Stark Publications for gene: NANS were set to
Prepair 1000+ v1.1137 TCAP Zornitza Stark Marked gene: TCAP as ready
Prepair 1000+ v1.1137 TCAP Zornitza Stark Gene: tcap has been classified as Green List (High Evidence).
Prepair 1000+ v1.1137 TCAP Zornitza Stark Phenotypes for gene: TCAP were changed from Muscular dystrophy, limb-girdle, type 2G, 601954 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954
Prepair 1000+ v1.1136 TCAP Zornitza Stark Publications for gene: TCAP were set to
Prepair 1000+ v1.1135 NBN Zornitza Stark Marked gene: NBN as ready
Prepair 1000+ v1.1135 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1135 NBN Zornitza Stark Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome, 251260 (3) to Nijmegen breakage syndrome, MIM#251260
Prepair 1000+ v1.1134 NBN Zornitza Stark Publications for gene: NBN were set to
Prepair 1000+ v1.1133 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Prepair 1000+ v1.1133 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1133 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232)
Prepair 1000+ v1.1132 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Prepair 1000+ v1.1131 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Prepair 1000+ v1.1131 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1131 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3) to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#263520
Prepair 1000+ v1.1130 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Prepair 1000+ v1.1129 CFI Zornitza Stark Marked gene: CFI as ready
Prepair 1000+ v1.1129 CFI Zornitza Stark Gene: cfi has been classified as Green List (High Evidence).
Prepair 1000+ v1.1129 CFI Zornitza Stark Phenotypes for gene: CFI were changed from Complement factor I deficiency, 610984 (3) to Complement factor I deficiency, MIM#610984
Prepair 1000+ v1.1128 CFI Zornitza Stark Publications for gene: CFI were set to
Prepair 1000+ v1.1127 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Prepair 1000+ v1.1127 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1127 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) to Multiple mitochondrial dysfunctions syndrome 1, MIM#605711
Prepair 1000+ v1.1126 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Prepair 1000+ v1.1125 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Prepair 1000+ v1.1125 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1125 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3) to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Prepair 1000+ v1.1124 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Prepair 1000+ v1.1123 NMNAT1 Zornitza Stark Marked gene: NMNAT1 as ready
Prepair 1000+ v1.1123 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1123 NMNAT1 Zornitza Stark Phenotypes for gene: NMNAT1 were changed from Leber congenital amaurosis 9, 608553 (3) to Leber congenital amaurosis 9, MIM#608553
Prepair 1000+ v1.1122 NMNAT1 Zornitza Stark Publications for gene: NMNAT1 were set to
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Publications for gene: NPR2 were set to
Hydrocephalus_Ventriculomegaly v0.127 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Hydrocephalus_Ventriculomegaly v0.127 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1120 PC Zornitza Stark Marked gene: PC as ready
Prepair 1000+ v1.1120 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1120 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150 (3) to Pyruvate carboxylase deficiency (MIM#266150)
Prepair 1000+ v1.1119 PC Zornitza Stark Publications for gene: PC were set to
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive to Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280)
Prepair 1000+ v1.1117 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Prepair 1000+ v1.1116 PCNT Zornitza Stark Marked gene: PCNT as ready
Prepair 1000+ v1.1116 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1116 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Prepair 1000+ v1.1115 PCNT Zornitza Stark Publications for gene: PCNT were set to
Prepair 1000+ v1.1114 PIGT Zornitza Stark Marked gene: PIGT as ready
Prepair 1000+ v1.1114 PIGT Zornitza Stark Gene: pigt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1114 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Prepair 1000+ v1.1113 PIGT Zornitza Stark Publications for gene: PIGT were set to
Prepair 1000+ v1.1112 PKLR Zornitza Stark Marked gene: PKLR as ready
Prepair 1000+ v1.1112 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1112 PKLR Zornitza Stark Phenotypes for gene: PKLR were changed from Pyruvate kinase deficiency, 266200 (3) to Pyruvate kinase deficiency, MIM#266200
Prepair 1000+ v1.1111 PKLR Zornitza Stark Publications for gene: PKLR were set to
Prepair 1000+ v1.1110 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, MIM#213200 to Spinocerebellar ataxia 2, MIM#213200
Prepair 1000+ v1.1109 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Prepair 1000+ v1.1109 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Prepair 1000+ v1.1109 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from Spinocerebellar ataxia, autosomal recessive 2, 213200 (3) to Spinocerebellar ataxia, autosomal recessive 2, MIM#213200
Prepair 1000+ v1.1108 PMPCA Zornitza Stark Publications for gene: PMPCA were set to
Prepair 1000+ v1.1107 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Prepair 1000+ v1.1107 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1107 PYCR2 Zornitza Stark Phenotypes for gene: PYCR2 were changed from Leukodystrophy, hypomyelinating, 10, 616420 (3) to Leukodystrophy, hypomyelinating, 10, MIM#616420
Prepair 1000+ v1.1106 PYCR2 Zornitza Stark Publications for gene: PYCR2 were set to
Prepair 1000+ v1.1105 POR Zornitza Stark Marked gene: POR as ready
Prepair 1000+ v1.1105 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Prepair 1000+ v1.1105 POR Zornitza Stark Publications for gene: POR were set to
Prepair 1000+ v1.1104 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Prepair 1000+ v1.1104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Prepair 1000+ v1.1104 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from Chondrodysplasia, Blomstrand type, 215045 (3) to Chondrodysplasia, Blomstrand type (MIM#215045); Eiken syndrome (MIM#600002)
Prepair 1000+ v1.1103 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Prepair 1000+ v1.1102 PTH1R Zornitza Stark Mode of pathogenicity for gene: PTH1R was changed from to None
Prepair 1000+ v1.1101 RCBTB1 Zornitza Stark Tag for review tag was added to gene: RCBTB1.
Prepair 1000+ v1.1101 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Prepair 1000+ v1.1101 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1101 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy 1, 254090 (3) to Ullrich congenital muscular dystrophy 1, MIM#254090
Prepair 1000+ v1.1100 COL6A3 Zornitza Stark Publications for gene: COL6A3 were set to
Prepair 1000+ v1.1099 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Prepair 1000+ v1.1099 CEP78 Zornitza Stark Gene: cep78 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1099 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive to Cone-rod dystrophy and hearing loss, MIM#617236
Prepair 1000+ v1.1098 CEP78 Zornitza Stark Publications for gene: CEP78 were set to
Prepair 1000+ v1.1097 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Prepair 1000+ v1.1097 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1097 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 (3) to Ichthyosis, congenital, autosomal recessive 5, MIM#604777
Prepair 1000+ v1.1096 DGKE Zornitza Stark Marked gene: DGKE as ready
Prepair 1000+ v1.1096 DGKE Zornitza Stark Gene: dgke has been classified as Green List (High Evidence).
Prepair 1000+ v1.1096 DGKE Zornitza Stark Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7, 615008 (3) to Nephrotic syndrome, type 7, MIM# 615008
Prepair 1000+ v1.1095 DGKE Zornitza Stark Publications for gene: DGKE were set to
Prepair 1000+ v1.1094 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Prepair 1000+ v1.1094 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Prepair 1000+ v1.1094 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880
Prepair 1000+ v1.1093 DGUOK Zornitza Stark Publications for gene: DGUOK were set to
Prepair 1000+ v1.1092 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Prepair 1000+ v1.1092 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1092 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica, AR, 226600 (3) to Epidermolysis bullosa dystrophica, MIM#226600
Prepair 1000+ v1.1091 COL7A1 Zornitza Stark Publications for gene: COL7A1 were set to
Prepair 1000+ v1.1090 IL12RB1 Zornitza Stark Marked gene: IL12RB1 as ready
Prepair 1000+ v1.1090 IL12RB1 Zornitza Stark Gene: il12rb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1090 IL12RB1 Zornitza Stark Phenotypes for gene: IL12RB1 were changed from Immunodeficiency 30, 614891 (3) to Immunodeficiency 30, MIM#614891
Prepair 1000+ v1.1089 IL12RB1 Zornitza Stark Publications for gene: IL12RB1 were set to
Prepair 1000+ v1.1088 IL12RB1 Zornitza Stark reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1088 DARS Zornitza Stark Marked gene: DARS as ready
Prepair 1000+ v1.1088 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1088 DARS Zornitza Stark Publications for gene: DARS were set to
Prepair 1000+ v1.1087 DCHS1 Zornitza Stark Marked gene: DCHS1 as ready
Prepair 1000+ v1.1087 DCHS1 Zornitza Stark Gene: dchs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1087 DCHS1 Zornitza Stark Publications for gene: DCHS1 were set to
Dyslipidaemia v0.42 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Prepair 1000+ v1.1086 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Prepair 1000+ v1.1086 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1086 DDX11 Zornitza Stark Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, 613398 (3) to Warsaw breakage syndrome, MIM#613398
Prepair 1000+ v1.1085 DDX11 Zornitza Stark Publications for gene: DDX11 were set to
Prepair 1000+ v1.1084 ISCA1 Zornitza Stark Tag for review tag was added to gene: ISCA1.
Prepair 1000+ v1.1084 SCARB2 Zornitza Stark Marked gene: SCARB2 as ready
Prepair 1000+ v1.1084 SCARB2 Zornitza Stark Gene: scarb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1084 SCARB2 Zornitza Stark Phenotypes for gene: SCARB2 were changed from Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3) to Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900
Prepair 1000+ v1.1083 SCARB2 Zornitza Stark Publications for gene: SCARB2 were set to
Prepair 1000+ v1.1082 DNAI2 Zornitza Stark Marked gene: DNAI2 as ready
Prepair 1000+ v1.1082 DNAI2 Zornitza Stark Gene: dnai2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1082 DNAI2 Zornitza Stark Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444
Prepair 1000+ v1.1081 DNAI2 Zornitza Stark Publications for gene: DNAI2 were set to
Prepair 1000+ v1.1080 DNAI2 Zornitza Stark reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1080 EIF2B1 Zornitza Stark Marked gene: EIF2B1 as ready
Prepair 1000+ v1.1080 EIF2B1 Zornitza Stark Gene: eif2b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1080 EIF2B1 Zornitza Stark Phenotypes for gene: EIF2B1 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896
Prepair 1000+ v1.1079 EIF2B1 Zornitza Stark Publications for gene: EIF2B1 were set to
Prepair 1000+ v1.1078 ITPR1 Zornitza Stark Marked gene: ITPR1 as ready
Prepair 1000+ v1.1078 ITPR1 Zornitza Stark Gene: itpr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1078 ITPR1 Zornitza Stark Phenotypes for gene: ITPR1 were changed from Gillespie syndrome, 206700 (3), Autosomal recessive to Gillespie syndrome, MIM#206700
Prepair 1000+ v1.1077 ITPR1 Zornitza Stark Publications for gene: ITPR1 were set to
Prepair 1000+ v1.1076 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Prepair 1000+ v1.1076 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1076 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750
Prepair 1000+ v1.1075 DPAGT1 Zornitza Stark Publications for gene: DPAGT1 were set to
Prepair 1000+ v1.1074 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Prepair 1000+ v1.1074 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1074 SUMF1 Zornitza Stark Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency, 272200 (3) to Multiple sulfatase deficiency, MIM#272200
Prepair 1000+ v1.1073 SUMF1 Zornitza Stark Publications for gene: SUMF1 were set to
Prepair 1000+ v1.1072 TAZ Zornitza Stark Marked gene: TAZ as ready
Prepair 1000+ v1.1072 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Prepair 1000+ v1.1072 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from Barth syndrome, 302060 (3) to Barth syndrome (MIM# 302060)
Prepair 1000+ v1.1071 TAZ Zornitza Stark Publications for gene: TAZ were set to
Prepair 1000+ v1.1070 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Prepair 1000+ v1.1070 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1070 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) to Arterial calcification, generalized, of infancy, 1 MIM#208000; Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312
Prepair 1000+ v1.1069 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Prepair 1000+ v1.1068 EDAR Zornitza Stark Marked gene: EDAR as ready
Prepair 1000+ v1.1068 EDAR Zornitza Stark Gene: edar has been classified as Green List (High Evidence).
Prepair 1000+ v1.1068 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) to autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Prepair 1000+ v1.1067 EDAR Zornitza Stark Publications for gene: EDAR were set to
Prepair 1000+ v1.1066 EIF2S3 Zornitza Stark Marked gene: EIF2S3 as ready
Prepair 1000+ v1.1066 EIF2S3 Zornitza Stark Gene: eif2s3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1066 EIF2S3 Zornitza Stark Phenotypes for gene: EIF2S3 were changed from MEHMO syndrome, 300148 (3), X-linked recessive to MEHMO syndrome, MIM# 300148
Prepair 1000+ v1.1065 EIF2S3 Zornitza Stark Publications for gene: EIF2S3 were set to
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Marked gene: TRPM7 as ready
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Genetic Epilepsy v1.101 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.100 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Genetic Epilepsy v1.100 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.99 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 35561741; 35712613; 39099563; 37188671
Phenotypes for gene: TRPM7 were set to Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related
Review for gene: TRPM7 was set to GREEN
Added comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.
PMID 37188671: mouse model investigating role in HypoMg and seizure-related death.
Sources: Literature
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Deleted their comment
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark edited their review of gene: TRPM7: Added comment: PMID 37188671: mouse model investigating role in HypoMg and seizure-related death.; Changed publications: 35561741, 35712613, 39099563, 37188671
Intellectual disability syndromic and non-syndromic v1.49 TRPM7 Zornitza Stark Marked gene: TRPM7 as ready
Intellectual disability syndromic and non-syndromic v1.49 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.49 TRPM7 Zornitza Stark Phenotypes for gene: TRPM7 were changed from Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related to Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related
Intellectual disability syndromic and non-syndromic v1.48 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.48 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.47 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 35561741; 35712613; 39099563
Phenotypes for gene: TRPM7 were set to Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related
Review for gene: TRPM7 was set to GREEN
Added comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.
Sources: Literature
Mendeliome v1.2264 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Mendeliome v1.2264 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Mendeliome v1.2263 TRPM7 Zornitza Stark changed review comment from: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa. PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant. PMID 35712613: de novo missense variant in an individual with hypoMg. PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.; to: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa. PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant. PMID 35712613: de novo missense variant in an individual with hypoMg. PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.

Overall, Green for association with HypoMg.

Red for ALS and stillbirth.
Mendeliome v1.2263 TRPM7 Zornitza Stark edited their review of gene: TRPM7: Added comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa. PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant. PMID 35712613: de novo missense variant in an individual with hypoMg. PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.; Changed rating: GREEN; Changed publications: 32503408, 31423533, 35561741, 35712613, 39099563; Changed phenotypes: Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related, {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500, Cardiac arrhythmia, stillbirth
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Marked gene: TRPM7 as ready
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.16 TRPM7 Zornitza Stark changed review comment from: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo.
Sources: Expert Review; to: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.
Sources: Expert Review
Prepair 1000+ v1.1064 PYROXD1 Michelle Torres reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833, 33694278; Phenotypes: Myopathy, myofibrillar, 8 MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v1.16 TRPM7 Zornitza Stark edited their review of gene: TRPM7: Changed rating: GREEN
Renal Tubulopathies and related disorders v1.16 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Renal Tubulopathies and related disorders. Sources: Expert Review
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 35561741; 35712613; 39099563
Phenotypes for gene: TRPM7 were set to Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related
Added comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo.
Sources: Expert Review
Fetal anomalies v1.305 PIGL Michelle Torres reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome MIM#280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PHYH Michelle Torres reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301527, 9326939, 9326940; Phenotypes: Refsum disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PEX16 Michelle Torres reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 11890679, 9837814, 20647552, 20301621, 30078639; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876, Peroxisome biogenesis disorder 8B MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1064 PDHA1 Michelle Torres reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1064 PDHA1 Michelle Torres Deleted their review
Prepair 1000+ v1.1064 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Prepair 1000+ v1.1064 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1064 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900 (3) to Dysautonomia, familial MIM#223900; Hereditary sensory and autonomic neuropathy type III (HSAN3)
Prepair 1000+ v1.1063 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Prepair 1000+ v1.1062 EOGT Zornitza Stark Marked gene: EOGT as ready
Prepair 1000+ v1.1062 EOGT Zornitza Stark Gene: eogt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1062 EOGT Zornitza Stark Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, 615297 (3) to Adams-Oliver syndrome 4, MIM#615297
Prepair 1000+ v1.1061 EOGT Zornitza Stark Publications for gene: EOGT were set to
Prepair 1000+ v1.1060 FANCE Zornitza Stark Marked gene: FANCE as ready
Prepair 1000+ v1.1060 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Prepair 1000+ v1.1060 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from Fanconi anemia, complementation group E, 600901 (3) to Fanconi anaemia, complementation group E, MIM#600901
Prepair 1000+ v1.1059 FANCE Zornitza Stark Publications for gene: FANCE were set to
Prepair 1000+ v1.1058 FOXN1 Zornitza Stark Marked gene: FOXN1 as ready
Prepair 1000+ v1.1058 FOXN1 Zornitza Stark Gene: foxn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1058 FOXN1 Zornitza Stark Phenotypes for gene: FOXN1 were changed from T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) to T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705
Prepair 1000+ v1.1057 FOXN1 Zornitza Stark Publications for gene: FOXN1 were set to
Prepair 1000+ v1.1056 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Prepair 1000+ v1.1056 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1056 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from Hypoplastic left heart syndrome 1, 241550 (3) to Craniometaphyseal dysplasia, autosomal recessive MIM#218400; Oculodentodigital dysplasia, autosomal recessive MIM#257850
Prepair 1000+ v1.1055 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Prepair 1000+ v1.1054 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Prepair 1000+ v1.1054 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1054 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) to Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199
Prepair 1000+ v1.1053 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Prepair 1000+ v1.1052 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Prepair 1000+ v1.1052 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1052 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome, 604213 (3) to Chudley-McCullough syndrome, MIM#604213
Prepair 1000+ v1.1051 GPSM2 Zornitza Stark Publications for gene: GPSM2 were set to
Prepair 1000+ v1.1050 GRHPR Zornitza Stark Publications for gene: GRHPR were set to 28569194; 10484776; 10484776; 24116921
Prepair 1000+ v1.1049 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Prepair 1000+ v1.1049 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1049 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1, 255800 (3) to Schwartz-Jampel syndrome, type 1, MIM# 255800; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410
Prepair 1000+ v1.1048 HSPG2 Zornitza Stark Publications for gene: HSPG2 were set to
Prepair 1000+ v1.1047 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Prepair 1000+ v1.1047 TBX22 Zornitza Stark Gene: tbx22 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1047 TBX22 Zornitza Stark Publications for gene: TBX22 were set to
Prepair 1000+ v1.1046 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v1.1046 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Prepair 1000+ v1.1046 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1046 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI, 604320 (3) to Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320; Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155
Prepair 1000+ v1.1045 IGHMBP2 Zornitza Stark Publications for gene: IGHMBP2 were set to
Prepair 1000+ v1.1044 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Prepair 1000+ v1.1044 IL10RB Zornitza Stark Gene: il10rb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1044 IL10RB Zornitza Stark Publications for gene: IL10RB were set to 22549091
Prepair 1000+ v1.1043 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Prepair 1000+ v1.1043 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Prepair 1000+ v1.1043 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from Fanconi anemia, complementation group T, 616435 (3) to Fanconi anaemia, complementation group T, MIM#616435
Prepair 1000+ v1.1042 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Prepair 1000+ v1.1041 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Prepair 1000+ v1.1041 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1041 KATNB1 Zornitza Stark Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly, 616212 (3) to Lissencephaly 6, with microcephaly, MIM#616212
Prepair 1000+ v1.1040 KATNB1 Zornitza Stark Publications for gene: KATNB1 were set to
Prepair 1000+ v1.1039 PDHA1 Michelle Torres reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1039 JUP Zornitza Stark Marked gene: JUP as ready
Prepair 1000+ v1.1039 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Prepair 1000+ v1.1039 ORC6 Michelle Torres reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3 MIM#613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1039 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Naxos disease, 601214 (3) to Naxos disease MIM#601214
Prepair 1000+ v1.1038 JUP Zornitza Stark Publications for gene: JUP were set to
Prepair 1000+ v1.1037 LDHA Zornitza Stark Marked gene: LDHA as ready
Prepair 1000+ v1.1037 LDHA Zornitza Stark Gene: ldha has been classified as Green List (High Evidence).
Prepair 1000+ v1.1037 LDHA Zornitza Stark Phenotypes for gene: LDHA were changed from Glycogen storage disease XI, 612933 (3) to Glycogen storage disease XI MIM#612933
Prepair 1000+ v1.1036 LDHA Zornitza Stark Publications for gene: LDHA were set to
Prepair 1000+ v1.1035 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Prepair 1000+ v1.1035 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1035 LAMA2 Zornitza Stark Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient, 607855 (3) to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
Prepair 1000+ v1.1034 LAMA2 Zornitza Stark Publications for gene: LAMA2 were set to
Prepair 1000+ v1.1033 CYB5R3 Zornitza Stark Marked gene: CYB5R3 as ready
Prepair 1000+ v1.1033 CYB5R3 Zornitza Stark Gene: cyb5r3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1033 CYB5R3 Zornitza Stark Phenotypes for gene: CYB5R3 were changed from Methemoglobinemia, type I, 250800 (3) to Methemoglobinaemia, type II (MIM# 250800)
Prepair 1000+ v1.1032 CYB5R3 Zornitza Stark Publications for gene: CYB5R3 were set to
Prepair 1000+ v1.1031 GALC Zornitza Stark Marked gene: GALC as ready
Prepair 1000+ v1.1031 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1031 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Krabbe disease, 245200 (3) to Krabbe disease, MIM# 245200; MONDO:0009499
Prepair 1000+ v1.1030 GALC Zornitza Stark Publications for gene: GALC were set to
Prepair 1000+ v1.1029 GORAB Zornitza Stark Marked gene: GORAB as ready
Prepair 1000+ v1.1029 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Prepair 1000+ v1.1029 GORAB Zornitza Stark Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 (3) to Geroderma osteodysplasticum, MIM#231070; MONDO:0009271
Prepair 1000+ v1.1028 GORAB Zornitza Stark Publications for gene: GORAB were set to
Intellectual disability syndromic and non-syndromic v1.46 TAOK2 Zornitza Stark Marked gene: TAOK2 as ready
Intellectual disability syndromic and non-syndromic v1.46 TAOK2 Zornitza Stark Gene: taok2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.46 TAOK2 Zornitza Stark Classified gene: TAOK2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.46 TAOK2 Zornitza Stark Gene: taok2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.45 TAOK2 Zornitza Stark gene: TAOK2 was added
gene: TAOK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK2 were set to 39737487
Phenotypes for gene: TAOK2 were set to neurodevelopmental disorder, MONDO:0700092, TAOK2-related
Review for gene: TAOK2 was set to GREEN
Added comment: PMID:39737487 reported 10 individuals with monoallelic TAOK2 variants and with a neurodevelopmental disorder.
Sources: Literature
Mendeliome v1.2263 TAOK2 Zornitza Stark Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation; autism to neurodevelopmental disorder, MONDO:0700092, TAOK2-related; Generalized verrucosis; abnormal T cell activation; autism
Mendeliome v1.2262 TAOK2 Zornitza Stark Publications for gene: TAOK2 were set to 28385331; 29467497
Mendeliome v1.2261 TAOK2 Zornitza Stark Classified gene: TAOK2 as Green List (high evidence)
Mendeliome v1.2261 TAOK2 Zornitza Stark Gene: taok2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from CAKUT to CAKUT MONDO:0019719, LIFR-related
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.118 LIFR Zornitza Stark Publications for gene: LIFR were set to 28334964
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1027 PHGDH Zornitza Stark Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome1, 256520 (3) to Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815
Prepair 1000+ v1.1026 PHGDH Zornitza Stark Publications for gene: PHGDH were set to
Prepair 1000+ v1.1025 PLOD2 Zornitza Stark Marked gene: PLOD2 as ready
Prepair 1000+ v1.1025 PLOD2 Zornitza Stark Gene: plod2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1025 PLOD2 Zornitza Stark Phenotypes for gene: PLOD2 were changed from Bruck syndrome 2, 609220 (3) to Bruck syndrome 2, MIM#609220
Prepair 1000+ v1.1024 PLOD2 Zornitza Stark Publications for gene: PLOD2 were set to
Prepair 1000+ v1.1023 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Prepair 1000+ v1.1023 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1023 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, 615993 (3) to Bardet-Biedl syndrome 16 (MIM# 615993); Senior-Loken syndrome 7 (MIM# 613615)
Prepair 1000+ v1.1022 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Prepair 1000+ v1.1021 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Prepair 1000+ v1.1021 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1021 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile, 269920 (3) to Sialic acid storage disorder, infantile (MIM#269920)
Prepair 1000+ v1.1020 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1019 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710 to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710); Microcephaly, Amish type (MIM#607196)
Prepair 1000+ v1.1018 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Prepair 1000+ v1.1017 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Prepair 1000+ v1.1017 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1017 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive to Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505); Pontocerebellar hypoplasia, type 1E (MIM# 619303)
Prepair 1000+ v1.1016 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Mendeliome v1.2260 SLC13A1 Zornitza Stark Classified gene: SLC13A1 as Amber List (moderate evidence)
Mendeliome v1.2260 SLC13A1 Zornitza Stark Gene: slc13a1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.300 SLC13A1 Zornitza Stark Publications for gene: SLC13A1 were set to 36175384
Skeletal dysplasia v0.299 SLC13A1 Zornitza Stark Classified gene: SLC13A1 as Amber List (moderate evidence)
Skeletal dysplasia v0.299 SLC13A1 Zornitza Stark Gene: slc13a1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1015 STIL Zornitza Stark Marked gene: STIL as ready
Prepair 1000+ v1.1015 STIL Zornitza Stark Gene: stil has been classified as Green List (High Evidence).
Prepair 1000+ v1.1015 STIL Zornitza Stark Phenotypes for gene: STIL were changed from Microcephaly 7, primary, autosomal recessive, 612703 (3) to Microcephaly 7, primary, (MIM# 612703)
Prepair 1000+ v1.1014 STIL Zornitza Stark Publications for gene: STIL were set to
Genetic Epilepsy v1.97 GTF3C3 Chirag Patel gene: GTF3C3 was added
gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to PMID: 39636576
Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Review for gene: GTF3C3 was set to GREEN
Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Sources: Literature
Genetic Epilepsy v1.97 GTF3C3 Chirag Patel gene: GTF3C3 was added
gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to PMID: 39636576
Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Review for gene: GTF3C3 was set to GREEN
Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Sources: Literature
Genetic Epilepsy v1.97 GTF3C3 Chirag Patel gene: GTF3C3 was added
gene: GTF3C3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to PMID: 39636576
Phenotypes for gene: GTF3C3 were set to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related
Added comment: 12 affected individuals from 7 unrelated families with homozygous or compound heterozygous missense variants in GTF3C3. Presentation with intellectual disability, variable nonfamilial facial features, motor impairments, seizures, and cerebellar/corpus callosum malformations.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.44 GTF3C3 Chirag Patel reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39636576; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.77 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.77 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.85 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.77 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.77 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.96 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Genetic Epilepsy v1.96 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Microcephaly v1.294 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Microcephaly v1.294 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.76 INPP4A Chirag Patel gene: INPP4A was added
gene: INPP4A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to PMID: 39315527
Phenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder
Review for gene: INPP4A was set to GREEN
Added comment: PMID: 39315527
30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).

Cardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4.

Preliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.84 INPP4A Chirag Patel gene: INPP4A was added
gene: INPP4A was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to PMID: 39315527
Phenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder
Review for gene: INPP4A was set to GREEN
Added comment: PMID: 39315527
30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).

Cardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4.

Preliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain.
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v1.86 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v1.86 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.85 INPP4A Chirag Patel gene: INPP4A was added
gene: INPP4A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to PMID: 39315527
Phenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder
Review for gene: INPP4A was set to GREEN
Added comment: PMID: 39315527
30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).

Cardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4.

Preliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain.
Sources: Literature
Microcephaly v1.293 INPP4A Chirag Patel gene: INPP4A was added
gene: INPP4A was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to PMID: 39315527
Phenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder
Review for gene: INPP4A was set to GREEN
Added comment: PMID: 39315527
30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).

Cardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4.

Preliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.44 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.44 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Genetic Epilepsy v1.95 INPP4A Chirag Patel gene: INPP4A was added
gene: INPP4A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to PMID: 39315527
Phenotypes for gene: INPP4A were set to INPP4A-related neurodevelopmental disorder
Review for gene: INPP4A was set to GREEN
Added comment: PMID: 39315527
30 individuals (aged 6 months to 40 years) from 17 unrelated families with biallelic LOF variants in INPP4A gene (11 nonsense or frameshift and 3 missense, mostly exon 4).

Cardinal clinical features include: severe global developmental delay, profound speech impairment, severe-profound intellectual disability, and severe lower limb weakness/paralysis. More variable clinical features include: microcephaly, short stature, cerebellar signs, involuntary movements, axial hypotonia, spasticity, quadriparesis, joint contractures, seizures, visual impairment. Neuroimaging findings vary from normal to features of (ponto)cerebellar hypoplasia, ventriculomegaly, reduced cerebral volume and hypomyelination. A more severe presentation is seen with variants downstream of exon 4.

Preliminary fibroblast cell studies identify disruption of endocytic pathways as the likely mechanism of disease, consistent with previous findings of a role of INPP4A in endocytosis. All mouse models display a phenotype mirroring human INPP4A-related neurodevelopmental disorder entailing a severe movement disorder with inability to walk, a small brain, and poor growth/weight gain.
Sources: Literature
Mendeliome v1.2259 INPP4A Chirag Patel Classified gene: INPP4A as Green List (high evidence)
Mendeliome v1.2259 INPP4A Chirag Patel Gene: inpp4a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.43 INPP4A Chirag Patel reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39315527; Phenotypes: INPP4A-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2258 INPP4A Chirag Patel reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39315527; Phenotypes: INPP4A-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1013 SYP Zornitza Stark Marked gene: SYP as ready
Prepair 1000+ v1.1013 SYP Zornitza Stark Gene: syp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1013 SYP Zornitza Stark Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96, 300802 (3) to Intellectual developmental disorder, X-linked 96 (MIM#300802)
Prepair 1000+ v1.1012 SYP Zornitza Stark Publications for gene: SYP were set to
Prepair 1000+ v1.1011 SYP Zornitza Stark reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1011 LIAS Zornitza Stark Marked gene: LIAS as ready
Prepair 1000+ v1.1011 LIAS Zornitza Stark Gene: lias has been classified as Green List (High Evidence).
Prepair 1000+ v1.1011 LIAS Zornitza Stark Phenotypes for gene: LIAS were changed from Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3) to Hyperglycinaemia, lactic acidosis, and seizures MIM#614462
Prepair 1000+ v1.1010 LIAS Zornitza Stark Publications for gene: LIAS were set to
Prepair 1000+ v1.1009 LPL Zornitza Stark Marked gene: LPL as ready
Prepair 1000+ v1.1009 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1009 LPL Zornitza Stark Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency, 238600 (3) to Lipoprotein lipase deficiency MIM#238600
Prepair 1000+ v1.1008 LRBA Zornitza Stark Marked gene: LRBA as ready
Prepair 1000+ v1.1008 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Prepair 1000+ v1.1008 LRBA Zornitza Stark Phenotypes for gene: LRBA were changed from Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3) to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Prepair 1000+ v1.1007 LRBA Zornitza Stark Publications for gene: LRBA were set to
Prepair 1000+ v1.1006 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Prepair 1000+ v1.1006 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1006 MCOLN1 Zornitza Stark Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV, 252650 (3) to Mucolipidosis IV MIM#252650
Prepair 1000+ v1.1005 MCOLN1 Zornitza Stark Publications for gene: MCOLN1 were set to
Prepair 1000+ v1.1004 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Prepair 1000+ v1.1004 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1004 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Prepair 1000+ v1.1003 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Prepair 1000+ v1.1002 NAGS Zornitza Stark Marked gene: NAGS as ready
Prepair 1000+ v1.1002 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Prepair 1000+ v1.1002 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from N-acetylglutamate synthase deficiency, 237310 (3) to N-acetylglutamate synthase deficiency MIM#237310
Prepair 1000+ v1.1001 NAGS Zornitza Stark Publications for gene: NAGS were set to
Prepair 1000+ v1.1000 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Prepair 1000+ v1.1000 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1000 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Prepair 1000+ v1.999 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Prepair 1000+ v1.998 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Prepair 1000+ v1.998 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.998 NKX6-2 Zornitza Stark Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3) to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560
Prepair 1000+ v1.997 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Prepair 1000+ v1.996 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Prepair 1000+ v1.996 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.996 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from Insensitivity to pain, congenital, with anhidrosis, 256800 (3) to Insensitivity to pain, congenital, with anhidrosis MIM#256800
Prepair 1000+ v1.995 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Prepair 1000+ v1.994 KIAA0586 Zornitza Stark Marked gene: KIAA0586 as ready
Prepair 1000+ v1.994 KIAA0586 Zornitza Stark Gene: kiaa0586 has been classified as Green List (High Evidence).
Prepair 1000+ v1.994 KIAA0586 Zornitza Stark Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive to Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546); Joubert syndrome 23 (MIM#616490)
Prepair 1000+ v1.993 KIAA0586 Zornitza Stark Publications for gene: KIAA0586 were set to
Fetal anomalies v1.305 KDM6B Zornitza Stark Marked gene: KDM6B as ready
Fetal anomalies v1.305 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Fetal anomalies v1.305 KDM6B Zornitza Stark Classified gene: KDM6B as Green List (high evidence)
Fetal anomalies v1.305 KDM6B Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence).
Fetal anomalies v1.304 KDM6B Zornitza Stark gene: KDM6B was added
gene: KDM6B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDM6B were set to Stolerman neurodevelopmental syndrome, MIM# 618505
Review for gene: KDM6B was set to GREEN
Added comment: Well established gene-disease association. A proportion of individuals have congenital anomalies, including cleft palate, skeletal anomalies and congenital heart disease.
Sources: Expert Review
Mendeliome v1.2258 DDX58 Zornitza Stark Marked gene: DDX58 as ready
Mendeliome v1.2258 DDX58 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is RIGI.
Mendeliome v1.2258 DDX58 Zornitza Stark Gene: ddx58 has been classified as Green List (High Evidence).
Mendeliome v1.2258 DDX58 Zornitza Stark Tag new gene name tag was added to gene: DDX58.
Neuromuscular Superpanel v3.342 Bryony Thompson Changed child panels to: Hereditary Spastic Paraplegia - paediatric; Muscular dystrophy and myopathy_Paediatric; Hereditary Neuropathy_CMT - isolated; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Ataxia - paediatric; Motor Neurone Disease; Gastrointestinal neuromuscular disease; Hereditary Neuropathy - complex; Rhabdomyolysis and Metabolic Myopathy; Ataxia - adult onset; Hereditary Spastic Paraplegia - adult onset; Congenital Myasthenia; Skeletal Muscle Channelopathies
Prepair 1000+ v1.992 KIAA0586 Ee Ming Wong reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: 26386044, 28125082, 36580738, 39063141; Phenotypes: Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546), Joubert syndrome 23 (MIM#616490); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v1.43 LRRC45 Zornitza Stark Marked gene: LRRC45 as ready
Intellectual disability syndromic and non-syndromic v1.43 LRRC45 Zornitza Stark Gene: lrrc45 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.43 LRRC45 Zornitza Stark Classified gene: LRRC45 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.43 LRRC45 Zornitza Stark Gene: lrrc45 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.42 LRRC45 Zornitza Stark gene: LRRC45 was added
gene: LRRC45 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LRRC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC45 were set to 39638757
Phenotypes for gene: LRRC45 were set to Neurodevelopmental disorder MONDO:0700092, LRRC45-related
Review for gene: LRRC45 was set to AMBER
Added comment: Three individuals from two families reported with two homozygous variants, one splice site and the other missense. Features of a neurological ciliopathy with some supportive experimental evidence.
Sources: Literature
Mendeliome v1.2258 LRRC45 Zornitza Stark Marked gene: LRRC45 as ready
Mendeliome v1.2258 LRRC45 Zornitza Stark Gene: lrrc45 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2258 LRRC45 Zornitza Stark Classified gene: LRRC45 as Amber List (moderate evidence)
Mendeliome v1.2258 LRRC45 Zornitza Stark Gene: lrrc45 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2257 LRRC45 Zornitza Stark gene: LRRC45 was added
gene: LRRC45 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRRC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC45 were set to 39638757
Phenotypes for gene: LRRC45 were set to Neurodevelopmental disorder MONDO:0700092, LRRC45-related
Review for gene: LRRC45 was set to AMBER
Added comment: Three individuals from two families reported with two homozygous variants, one splice site and the other missense. Features of a neurological ciliopathy with some supportive experimental evidence.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.41 WASHC3 Zornitza Stark Marked gene: WASHC3 as ready
Intellectual disability syndromic and non-syndromic v1.41 WASHC3 Zornitza Stark Gene: washc3 has been classified as Red List (Low Evidence).
Mendeliome v1.2256 WASHC3 Zornitza Stark Marked gene: WASHC3 as ready
Mendeliome v1.2256 WASHC3 Zornitza Stark Gene: washc3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.41 WASHC3 Zornitza Stark gene: WASHC3 was added
gene: WASHC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WASHC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915
Phenotypes for gene: WASHC3 were set to neurodevelopmental disorder MONDO:0700092, WASHC3 related
Review for gene: WASHC3 was set to RED
Added comment: One family with de novo missense. Two families with homozygous start loss variant. The functional evidence provided does not directly link to the human phenotype. Given two variants and two different MOIs, RED rating.
Sources: Literature
Mendeliome v1.2256 WASHC3 Zornitza Stark Phenotypes for gene: WASHC3 were changed from neurodevelopmental disorder MONDO:0700092 to neurodevelopmental disorder MONDO:0700092, WASHC3 related
Mendeliome v1.2255 WASHC3 Zornitza Stark Mode of inheritance for gene: WASHC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.2254 WASHC3 Zornitza Stark Classified gene: WASHC3 as Red List (low evidence)
Mendeliome v1.2254 WASHC3 Zornitza Stark Gene: washc3 has been classified as Red List (Low Evidence).
Mendeliome v1.2253 WASHC3 Zornitza Stark reviewed gene: WASHC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder MONDO:0700092, WASHC3 related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.303 LDB1 Zornitza Stark Marked gene: LDB1 as ready
Fetal anomalies v1.303 LDB1 Zornitza Stark Gene: ldb1 has been classified as Green List (High Evidence).
Fetal anomalies v1.303 LDB1 Zornitza Stark Classified gene: LDB1 as Green List (high evidence)
Fetal anomalies v1.303 LDB1 Zornitza Stark Gene: ldb1 has been classified as Green List (High Evidence).
Fetal anomalies v1.302 LDB1 Zornitza Stark gene: LDB1 was added
gene: LDB1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB1 were set to 39680505
Phenotypes for gene: LDB1 were set to Congenital hydrocephalus MONDO:0016349
Review for gene: LDB1 was set to GREEN
Added comment: Exome-wide significant enrichment of LDB1 protein-altering de novo variants (p = 1.11 x 10-15) in a large cerebral ventriculomegaly cohort (>2,697 parent-proband trios). 8 unrelated cases with ventriculomegaly, developmental delay, and dysmorphic features with de novo variants (7 LoF variants truncate LDB1's carboxy-terminal LIM interaction domain & 1 missense).
Sources: Literature
Mendeliome v1.2253 NAV3 Zornitza Stark Marked gene: NAV3 as ready
Mendeliome v1.2253 NAV3 Zornitza Stark Gene: nav3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.40 NAV3 Zornitza Stark Marked gene: NAV3 as ready
Intellectual disability syndromic and non-syndromic v1.40 NAV3 Zornitza Stark Gene: nav3 has been classified as Green List (High Evidence).
Mendeliome v1.2253 NAV3 Zornitza Stark Classified gene: NAV3 as Green List (high evidence)
Mendeliome v1.2253 NAV3 Zornitza Stark Gene: nav3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.40 NAV3 Zornitza Stark Classified gene: NAV3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.40 NAV3 Zornitza Stark Gene: nav3 has been classified as Green List (High Evidence).
Mendeliome v1.2252 NAV3 Zornitza Stark gene: NAV3 was added
gene: NAV3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NAV3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAV3 were set to 39708122; 38977784
Phenotypes for gene: NAV3 were set to Neurodevelopmental disorder, MONDO:0700092, NAV3-related
Review for gene: NAV3 was set to GREEN
Added comment: 17 individuals from 11 families reported with bi-allelic variants and neurodevelopmental phenotypes, including DD/ID and behavioural abnormalities.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.39 NAV3 Zornitza Stark gene: NAV3 was added
gene: NAV3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NAV3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAV3 were set to 39708122; 38977784
Phenotypes for gene: NAV3 were set to Neurodevelopmental disorder, MONDO:0700092, NAV3-related
Review for gene: NAV3 was set to GREEN
Added comment: 17 individuals from 11 families reported with bi-allelic variants and neurodevelopmental phenotypes, including DD/ID and behavioural abnormalities.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.75 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Cerebellar and Pontocerebellar Hypoplasia v1.75 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.75 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.75 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.74 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Genetic Epilepsy v1.94 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Ataxia - paediatric v1.30 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Ataxia - paediatric v1.30 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Ataxia - paediatric v1.30 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Ataxia - paediatric v1.30 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Genetic Epilepsy v1.93 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Ataxia - paediatric v1.29 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Regression v0.572 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Regression v0.572 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Regression v0.572 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Regression v0.572 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Regression v0.572 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Regression v0.572 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Mendeliome v1.2251 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Mendeliome v1.2251 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Regression v0.571 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Regression. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Mendeliome v1.2251 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Mendeliome v1.2251 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Mendeliome v1.2250 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.38 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Intellectual disability syndromic and non-syndromic v1.38 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.38 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.38 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.37 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Marked gene: DAP3 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.337 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.336 DAP3 Zornitza Stark gene: DAP3 was added
gene: DAP3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAP3 were set to 39701103
Phenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related
Review for gene: DAP3 was set to GREEN
Added comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29). Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants.
Sources: Literature
Deafness_IsolatedAndComplex v1.210 DAP3 Zornitza Stark Marked gene: DAP3 as ready
Deafness_IsolatedAndComplex v1.210 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.210 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.210 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.209 DAP3 Zornitza Stark gene: DAP3 was added
gene: DAP3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAP3 were set to 39701103
Phenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related
Review for gene: DAP3 was set to GREEN
Added comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29). Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants.
Sources: Literature
Mendeliome v1.2249 DAP3 Zornitza Stark Marked gene: DAP3 as ready
Mendeliome v1.2249 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.966 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Mitochondrial disease v0.966 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mendeliome v1.2249 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Mendeliome v1.2249 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.965 DAP3 Zornitza Stark Marked gene: DAP3 as ready
Mitochondrial disease v0.965 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mendeliome v1.2248 DAP3 Zornitza Stark gene: DAP3 was added
gene: DAP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAP3 were set to 39701103
Phenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related
Review for gene: DAP3 was set to GREEN
Added comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29). Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants.
Sources: Literature
Mitochondrial disease v0.965 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Mitochondrial disease v0.965 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.964 DAP3 Zornitza Stark gene: DAP3 was added
gene: DAP3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAP3 were set to 39701103
Phenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related
Review for gene: DAP3 was set to GREEN
Added comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29).

Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants.
Sources: Literature
Fetal anomalies v1.301 PDE12 Zornitza Stark Marked gene: PDE12 as ready
Fetal anomalies v1.301 PDE12 Zornitza Stark Gene: pde12 has been classified as Green List (High Evidence).
Fetal anomalies v1.301 PDE12 Zornitza Stark Classified gene: PDE12 as Green List (high evidence)
Fetal anomalies v1.301 PDE12 Zornitza Stark Gene: pde12 has been classified as Green List (High Evidence).
Fetal anomalies v1.300 PDE12 Zornitza Stark gene: PDE12 was added
gene: PDE12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE12 were set to 39567835
Phenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970, PDE12-related
Review for gene: PDE12 was set to GREEN
Added comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).
-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.
-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron
transfer chain activities in fibroblasts.
-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).

WES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity.

PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein.
Sources: Literature
Vascular Malformations_Germline v1.12 LRRC8C Zornitza Stark Marked gene: LRRC8C as ready
Vascular Malformations_Germline v1.12 LRRC8C Zornitza Stark Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.12 LRRC8C Zornitza Stark Classified gene: LRRC8C as Amber List (moderate evidence)
Vascular Malformations_Germline v1.12 LRRC8C Zornitza Stark Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2247 LRRC8C Zornitza Stark Marked gene: LRRC8C as ready
Mendeliome v1.2247 LRRC8C Zornitza Stark Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Mendeliome v1.2247 LRRC8C Zornitza Stark Classified gene: LRRC8C as Amber List (moderate evidence)
Mendeliome v1.2247 LRRC8C Zornitza Stark Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.36 LRRC8C Zornitza Stark Marked gene: LRRC8C as ready
Intellectual disability syndromic and non-syndromic v1.36 LRRC8C Zornitza Stark Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.36 LRRC8C Zornitza Stark Classified gene: LRRC8C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.36 LRRC8C Zornitza Stark Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.963 MT-TV Zornitza Stark edited their review of gene: MT-TV: Added comment: PMID 39468830: multiplex family with spastic paraplegia and homoplasmic variant, m.1661A > G; Changed publications: 39468830; Changed phenotypes: Ataxia, Seizures, Deafness, Spastic paraplegia
Autoimmune Lymphoproliferative Syndrome v0.30 STAT3 Ain Roesley Classified gene: STAT3 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.30 STAT3 Ain Roesley Gene: stat3 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.29 STAT3 Ain Roesley gene: STAT3 was added
gene: STAT3 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 36228738
Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952; STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Review for gene: STAT3 was set to GREEN
gene: STAT3 was marked as current diagnostic
Added comment: PMID:36228738;
Also known as STAT3 GoF syndrome, this review contains 191 patients with 72 unique variants
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.28 RASGRP1 Ain Roesley Classified gene: RASGRP1 as Amber List (moderate evidence)
Autoimmune Lymphoproliferative Syndrome v0.28 RASGRP1 Ain Roesley Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).
Autoimmune Lymphoproliferative Syndrome v0.27 RASGRP1 Ain Roesley gene: RASGRP1 was added
gene: RASGRP1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP1 were set to 29155103; 39752212
Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64 MIM#618534
Review for gene: RASGRP1 was set to AMBER
gene: RASGRP1 was marked as current diagnostic
Added comment: PMID:29155103; 2 siblings Chet for Thr214Ile and Lys322*

PMID:39752212; 1x hom 'LoF' variant (unable to access paper)

PMID: 39278845; 1x patient from a cohort of autoimmune lymphoproliferative immunodeficiencies. Thr312Ala. did not indicate if homozygous or single hit

Amber due to quality of papers/journals
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.26 PRKCD Ain Roesley Marked gene: PRKCD as ready
Autoimmune Lymphoproliferative Syndrome v0.26 PRKCD Ain Roesley Gene: prkcd has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.26 PRKCD Ain Roesley Classified gene: PRKCD as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.26 PRKCD Ain Roesley Gene: prkcd has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.25 PRKCD Ain Roesley gene: PRKCD was added
gene: PRKCD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: PRKCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKCD were set to 37794137
Phenotypes for gene: PRKCD were set to Autoimmune lymphoproliferative syndrome, type III MIM#615559
Review for gene: PRKCD was set to GREEN
gene: PRKCD was marked as current diagnostic
Added comment: PMID:37794137; lit review with >10 families
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.24 LRBA Ain Roesley Marked gene: LRBA as ready
Autoimmune Lymphoproliferative Syndrome v0.24 LRBA Ain Roesley Gene: lrba has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.24 LRBA Ain Roesley Classified gene: LRBA as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.24 LRBA Ain Roesley Gene: lrba has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.23 LRBA Ain Roesley gene: LRBA was added
gene: LRBA was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 38302222; 25931386
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Review for gene: LRBA was set to GREEN
gene: LRBA was marked as current diagnostic
Added comment: PMID:38302222; 5x in Center for Chronic Immunodeficiency in Freiburg, Germany database

PMID:25931386; 2 families in the report + 6 others in review table
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.22 CTLA4 Ain Roesley Marked gene: CTLA4 as ready
Autoimmune Lymphoproliferative Syndrome v0.22 CTLA4 Ain Roesley Gene: ctla4 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.22 CTLA4 Ain Roesley Classified gene: CTLA4 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.22 CTLA4 Ain Roesley Gene: ctla4 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.21 CTLA4 Ain Roesley gene: CTLA4 was added
gene: CTLA4 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTLA4 were set to 39060684; 38302222
Phenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493
Review for gene: CTLA4 was set to GREEN
gene: CTLA4 was marked as current diagnostic
Added comment: PMID: 39060684; 3x individuals. 1x missense, 1x splice 1x PTC

PMID:38302222; 9x in Center for Chronic Immunodeficiency in Freiburg, Germany database
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.20 ADA2 Ain Roesley Marked gene: ADA2 as ready
Autoimmune Lymphoproliferative Syndrome v0.20 ADA2 Ain Roesley Gene: ada2 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.20 ADA2 Ain Roesley Classified gene: ADA2 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.20 ADA2 Ain Roesley Gene: ada2 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.19 ADA2 Ain Roesley gene: ADA2 was added
gene: ADA2 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 39060684; 29271561; 30692987; 34721429
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
Review for gene: ADA2 was set to GREEN
gene: ADA2 was marked as current diagnostic
Added comment: PMID:39060684; 1x individual hom for Gly358Arg. 4x path in clinvar

PMID:29271561; 1x individual hom for c.882-2A>G. 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2

PMID:34721429; 2 sibs Chet for Leu188Phe and Thr187Pro and both had complete absence of inosine, an adenosine-derived product.
Leu188Phe is absent in gnomad v4 and clinvar. high conservation + 0.9 REVEL
Thr187Pro 1 het 0 homs in v4 and 1x clinvar citing this paper high conservation + 0.7 REVEL

PMID:30692987 ; 1x Chet Tyr456Cys and Trp399*. The missense 1x LP in clinvar by Invitae and 2 hets 0 homs in v4. high conservation + REVEL 0.7
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.18 NRAS Ain Roesley Marked gene: NRAS as ready
Autoimmune Lymphoproliferative Syndrome v0.18 NRAS Ain Roesley Gene: nras has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.18 NRAS Ain Roesley Classified gene: NRAS as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.18 NRAS Ain Roesley Gene: nras has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.17 NRAS Ain Roesley gene: NRAS was added
gene: NRAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 39060684; 17517660; 33011939
Phenotypes for gene: NRAS were set to autoimmune lymphoproliferative syndrome type 4 MONDO:0013767
Review for gene: NRAS was set to GREEN
gene: NRAS was marked as current diagnostic
Added comment: PMID:39060684; 1x individual with Gly13Asp

PMID:17517660; 1x de novo GoF variant Gly13Asp.
NB: PMID:21079152 states that the paper above is a somatic variant. However, lymphoblasts, monocytes, and buccal epithelial cells, all demonstrating a heterozygous variant

PMID:33011939; review with 11x individuals
Gly13Asp, Gly12Val, Gly12Ser, Gly13Cys
Sources: Literature
Prepair 1000+ v1.992 NTRK1 Michelle Torres reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NPC1 Michelle Torres reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301473, 32138288; Phenotypes: Niemann-Pick disease, type C1 MIM#257220, Niemann-Pick disease, type D MIM#257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NKX6-2 Michelle Torres reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679, 30285346; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.83 MYMX Chirag Patel Classified gene: MYMX as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.83 MYMX Chirag Patel Gene: mymx has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.82 MYMX Chirag Patel Classified gene: MYMX as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.82 MYMX Chirag Patel Gene: mymx has been classified as Green List (High Evidence).
Mendeliome v1.2246 MYMX Chirag Patel Classified gene: MYMX as Green List (high evidence)
Mendeliome v1.2246 MYMX Chirag Patel Gene: mymx has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.81 MYMX Chirag Patel reviewed gene: MYMX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39668186; Phenotypes: congenital myopathy MONDO:0019952, congenital myopathy with facial palsy, growth restriction, and dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2245 MYMX Chirag Patel reviewed gene: MYMX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39668186; Phenotypes: congenital myopathy MONDO:0019952, congenital myopathy with facial palsy, growth restriction, and dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NDUFS7 Michelle Torres reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771, 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2245 DDX53 Chirag Patel Classified gene: DDX53 as Green List (high evidence)
Mendeliome v1.2245 DDX53 Chirag Patel Gene: ddx53 has been classified as Green List (High Evidence).
Mendeliome v1.2244 DDX53 Chirag Patel gene: DDX53 was added
gene: DDX53 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DDX53 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DDX53 were set to PMID: 39706195
Phenotypes for gene: DDX53 were set to autism spectrum disorder MONDO:0005258
Review for gene: DDX53 was set to GREEN
Added comment: The DDX53 gene is a single-exon RNA helicase which lies intronic to PTCHD1-AS (a multi-isoform long noncoding RNA (lncRNA) at the Xp22.11 locus. It is thought to play a role in RNA decay, RNA processing, ribosome biogenesis, and translation initiation. 9 affected males and 3 affected females from 9 unrelated families with ASD and rare, predicted damaging or loss-of-function variants in DDX53 (including a gene deletion involving DDX53 and exons of the noncoding RNA PTCHD1-AS). A further 26 individuals with ASD were identified (from Autism Speaks MSSNG and Simons Foundation Autism Research Initiative) with 19 rare, damaging DDX53 variations (mostly maternally inherited). No functional evidence.
Sources: Literature
Autism v0.205 DDX53 Chirag Patel Classified gene: DDX53 as Green List (high evidence)
Autism v0.205 DDX53 Chirag Patel Gene: ddx53 has been classified as Green List (High Evidence).
Autism v0.204 DDX53 Chirag Patel gene: DDX53 was added
gene: DDX53 was added to Autism. Sources: Literature
Mode of inheritance for gene: DDX53 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DDX53 were set to PMID: 39706195
Phenotypes for gene: DDX53 were set to autism spectrum disorder MONDO:0005258
Review for gene: DDX53 was set to GREEN
Added comment: The DDX53 gene is a single-exon RNA helicase which lies intronic to PTCHD1-AS (a multi-isoform long noncoding RNA (lncRNA) at the Xp22.11 locus. It is thought to play a role in RNA decay, RNA processing, ribosome biogenesis, and translation initiation.

9 affected males and 3 affected females from 9 unrelated families with ASD and rare, predicted damaging or loss-of-function variants in DDX53 (including a gene deletion involving DDX53 and exons of the noncoding RNA PTCHD1-AS). A further 26 individuals with ASD were identified (from Autism Speaks MSSNG and Simons Foundation Autism Research Initiative) with 19 rare, damaging DDX53 variations (mostly maternally inherited). No functional evidence.
Sources: Literature
Prepair 1000+ v1.992 NAGS Michelle Torres reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12594532, 17421020, 12459178, 12754705, 9877039; Phenotypes: N-acetylglutamate synthase deficiency MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MMACHC Michelle Torres reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301503; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MCOLN1 Michelle Torres reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33963976, 32604955; Phenotypes: Mucolipidosis IV MIM#252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MCCC1 Michelle Torres reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: 31730530, 39188588; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LRBA Michelle Torres reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22608502, 22721650, 25468195, 26206937, 33155142; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LPL Michelle Torres reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoprotein lipase deficiency MIM#238600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LIAS Michelle Torres reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152680, 24334290, 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SYP Ee Ming Wong reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: None; Publications: 23966691, 19377476; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 STIL Ee Ming Wong changed review comment from: - More than 10 unrelated families reported.
- Onset at birth
- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in
1. residual expression or
2. stabilization of STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.; to: - More than 10 unrelated families reported.
- Onset at birth
- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in
1. residual expression or
2. stabilization of mutant STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.
Prepair 1000+ v1.992 STIL Ee Ming Wong reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157, 29352115, 24485834; Phenotypes: Microcephaly 7, primary, (MIM# 612703); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC25A46 Ee Ming Wong reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168012, 27543974, 30178502; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505), Pontocerebellar hypoplasia, type 1E (MIM# 619303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC25A19 Ee Ming Wong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301539, 31095747; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710), Microcephaly, Amish type (MIM#607196); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SLC17A5 Ee Ming Wong reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10947946, 5516337, 33862140; Phenotypes: Sialic acid storage disorder, infantile (MIM#269920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Heart Defect v0.429 RBFOX2 Ain Roesley Phenotypes for gene: RBFOX2 were changed from RBFOX2-related congenital heart disorder (MONDO:0100557) to RBFOX2-related congenital heart disorder (MONDO:0100557)
Congenital Heart Defect v0.428 RBFOX2 Ain Roesley Phenotypes for gene: RBFOX2 were changed from Congenital heart disease MONDO:0005453, RBFOX2-related to RBFOX2-related congenital heart disorder (MONDO:0100557)
Fetal anomalies v1.299 RBFOX2 Ain Roesley Phenotypes for gene: RBFOX2 were changed from Congenital heart disease MONDO:0005453, RBFOX2-related to RBFOX2-related congenital heart disorder (MONDO:0100557)
Mendeliome v1.2243 RBFOX2 Ain Roesley Phenotypes for gene: RBFOX2 were changed from Congenital heart disease MONDO:0005453, RBFOX2-related to RBFOX2-related congenital heart disorder (MONDO:0100557)
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 22819833, 20835237, 32432520, 22626039, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993), Senior-Loken syndrome 7 (MIM# 613615); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong Deleted their review
Prepair 1000+ v1.992 SDCCAG8 Ee Ming Wong reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PLOD2 Shakira Heerah reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2, MIM#609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 PHGDH Shakira Heerah reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 39638571, 37964427, 24836451, 25152457, 11055895, 19235232; Phenotypes: Neu-Laxova syndrome 1 MIM#256520, Phosphoglycerate dehydrogenase deficiency MIM#601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.298 RBFOX2 Zornitza Stark Phenotypes for gene: RBFOX2 were changed from to Congenital heart disease MONDO:0005453, RBFOX2-related
Fetal anomalies v1.297 RBFOX2 Zornitza Stark Classified gene: RBFOX2 as Green List (high evidence)
Fetal anomalies v1.297 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Green List (High Evidence).
Fetal anomalies v1.296 RBFOX2 Zornitza Stark reviewed gene: RBFOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart disease MONDO:0005453, RBFOX2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2242 RBFOX2 Zornitza Stark Phenotypes for gene: RBFOX2 were changed from Hypoplastic left heart syndrome (HLHS) MONDO:0004933 to Congenital heart disease MONDO:0005453, RBFOX2-related
Mendeliome v1.2241 RBFOX2 Zornitza Stark Classified gene: RBFOX2 as Green List (high evidence)
Mendeliome v1.2241 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.427 RBFOX2 Zornitza Stark Phenotypes for gene: RBFOX2 were changed from Hypoplastic left heart syndrome (HLHS) MONDO:0004933 to Congenital heart disease MONDO:0005453, RBFOX2-related
Congenital Heart Defect v0.426 RBFOX2 Zornitza Stark Classified gene: RBFOX2 as Green List (high evidence)
Congenital Heart Defect v0.426 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.425 RBFOX2 Zornitza Stark edited their review of gene: RBFOX2: Added comment: STRONG by ClinGen. At least 5 unrelated families and supportive zebrafish model.; Changed rating: GREEN; Changed phenotypes: Congenital heart disease MONDO:0005453, RBFOX2-related
Intellectual disability syndromic and non-syndromic v1.35 CCT3 Zornitza Stark reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.92 CCT3 Zornitza Stark Phenotypes for gene: CCT3 were changed from neurodevelopmental disorder MONDO:0700092, CCT3-related to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034
Genetic Epilepsy v1.91 CCT3 Zornitza Stark reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2240 CCT3 Zornitza Stark Phenotypes for gene: CCT3 were changed from neurodevelopmental disorder MONDO:0700092, CCT3-related to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034
Mendeliome v1.2239 CCT3 Zornitza Stark reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.35 TCP1 Zornitza Stark Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
Intellectual disability syndromic and non-syndromic v1.34 TCP1 Zornitza Stark reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.91 TCP1 Zornitza Stark Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
Genetic Epilepsy v1.90 TCP1 Zornitza Stark reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2239 TCP1 Zornitza Stark Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
Mendeliome v1.2238 TCP1 Zornitza Stark reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.195 TCP1 Zornitza Stark Phenotypes for gene: TCP1 were changed from neurodevelopmental disorder MONDO:0700092, TCP1-related to Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021
Polymicrogyria and Schizencephaly v0.194 TCP1 Zornitza Stark reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 LIFR Renee Santoreneos reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 38025229; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.2238 TAOK2 Achchuthan Shanmugasundram reviewed gene: TAOK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 39737487; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.992 GORAB Clare Hunt reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19681135, 9018419, 18348262; Phenotypes: Geroderma osteodysplasticum, MIM#231070, MONDO:0009271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GALC Clare Hunt reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20886637, 21070211, 30899093, 24252386; Phenotypes: Krabbe disease, MIM# 245200, MONDO:0009499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CYB5R3 Ee Ming Wong reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898843, 38303731; Phenotypes: Methemoglobinemia, type II (MIM# 250800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 LAMA2 Lauren Thomas reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055037; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855, Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 LDHA Michelle Torres reviewed gene: LDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 36292720; Phenotypes: Glycogen storage disease XI MIM#612933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 KCNE1 Michelle Torres reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM#612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 JUP Michelle Torres reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 34587761; Phenotypes: Naxos disease MIM#601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 KATNB1 Lauren Thomas reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25521378, 25521379, 26640080; Phenotypes: Lissencephaly 6, with microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 UBE2T Ee Ming Wong reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: 32646888, 26119737, 26046368, 26085575; Phenotypes: Fanconi anemia, complementation group T (MIM#616435); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 IL10RB Michelle Torres reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 21519361, 35187668, 31096038; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 IGHMBP2 Michelle Torres reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34785121, 25439726; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320, Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 TBX22 Ee Ming Wong changed review comment from: 1. Cleft palate with ankyloglossia (MIM# 303400)
- More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.
- PMID:36901693 - Characterised by a cleft palate phenotype that is most often present in males and ranges from a high-arched palate, bifid uvula, submucous cleft palate, soft cleft palate, to complete cleft palate
- OMIM, PMID:36901693 - Ankyloglossia/ bifid uvula/cleft palate reported in heterozygous females
- Overall mild phenotype although PMID: 21375406 describes 1x TBX22 hemizygous individual with unilateral complete cleft lip and palate, ankyloglossia, hypodontia of the left maxillary second premolar, carpal bone anomalies, and hypoplastic thumb of the right hand. No other genes were tested.

2. Abruzzo-Erickson syndrome, MIM# 302905
PMID:22784330 - Single family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate. Did not find additional reports on this phenotype; to: 1. Cleft palate with ankyloglossia (MIM# 303400)
- More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.
- PMID:36901693 - Characterised by a cleft palate phenotype that is most often present in males and ranges from a high-arched palate, bifid uvula, submucous cleft palate, soft cleft palate, to complete cleft palate
- OMIM, PMID:36901693 - Ankyloglossia/ bifid uvula/cleft palate reported in heterozygous females
- Overall mild phenotype although PMID: 21375406 describes 1x TBX22 hemizygous individual with unilateral complete cleft lip and palate, ankyloglossia, hypodontia of the left maxillary second premolar, carpal bone anomalies, and hypoplastic thumb of the right hand. No other genes were tested.

2. Abruzzo-Erickson syndrome, MIM# 302905
PMID:22784330 - Single family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate. Did not find additional reports on this phenotype
Prepair 1000+ v1.992 TBX22 Ee Ming Wong reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: None; Publications: 36901693, 22784330, 21375406; Phenotypes: Cleft palate with ankyloglossia (MIM# 303400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Prepair 1000+ v1.992 HSPG2 Michelle Torres reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37761893; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GRHPR Michelle Torres reviewed gene: GRHPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301742, 28569194; Phenotypes: Hyperoxaluria, primary, type II MIM#260000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GPSM2 Michelle Torres reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GLIS3 Michelle Torres reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041, 35410112, 35394098, 34093443; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 GJA1 Michelle Torres reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23951358, 29902798, 34035645; Phenotypes: Craniometaphyseal dysplasia, autosomal recessive MIM#218400, Oculodentodigital dysplasia, autosomal recessive MIM#257850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2238 RBFOX2 Jonathon Bradshaw reviewed gene: RBFOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26785492, 27670201, 32368696, 27485310, 25205790, 35137168, 26785492, 28991257; Phenotypes: RBFOX2-related congenital heart disorder (MONDO:0100557); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.2238 RBFOX2 Jonathon Bradshaw Deleted their review
Mendeliome v1.2238 RBFOX2 Jonathon Bradshaw changed review comment from: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (1x nonsense, 1x frameshift, 1x canonical splice variants). All 3 probands have hypoplastic left heart syndrome (HLHS) and no extra-cardiac features. Same cohort later included in PMID: 32368696, listed one additional de novo variant in this gene (missense variant) in a patient with conotruncal defects (CTDs).

- PMID: 28991257: Same research consortium as above, an additional splice variant observed in a singleton from the CHD cohort identified as a LoF predicted heterozygous mutation.

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.

- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.

- 2x NMD-predicted de novo individuals with cardiac defects have been observed (internal data).

- ClinVar: one current pathogenic entry: c.523dup (p.Ser175fs). This patient had a complex congenital cardiac defect, choreiform movement disorder, developmental delay, a clotting disorder, intermittent cyanosis, chronic lung disease, low muscle tone, short stature and failure to gain weight, mild dysmorphisms, and mild joint laxity. Brain MRI shows a stable chronic infarction, stable cerebral volume loss, and ex-vacuo prominence of ventricles (personal communication).

- ClinGen has curated this gene. Strong association and evidence supporting LoF as a mechanism of disease.; to: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (1x nonsense, 1x frameshift, 1x canonical splice variants). All 3 probands have hypoplastic left heart syndrome (HLHS) and no extra-cardiac features. Same cohort later included in PMID: 32368696, listed one additional de novo variant in this gene (missense variant) in a patient with conotruncal defects (CTDs).

- PMID: 28991257: Same research consortium as above, an additional splice variant observed in a singleton from the CHD cohort identified as a LoF predicted heterozygous mutation.

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.

- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.

- 2x NMD-predicted de novo individuals with cardiac defects have been observed (internal data).

- ClinVar: one current pathogenic entry: c.523dup (p.Ser175fs). This patient had a complex congenital cardiac defect, choreiform movement disorder, developmental delay, a clotting disorder, intermittent cyanosis, chronic lung disease, low muscle tone, short stature and failure to gain weight, mild dysmorphisms, and mild joint laxity. Brain MRI shows a stable chronic infarction, stable cerebral volume loss, and ex-vacuo prominence of ventricles (personal communication).

- ClinGen has curated this gene. Strong association and evidence supporting LoF as a mechanism of disease.
Mendeliome v1.2238 RBFOX2 Jonathon Bradshaw reviewed gene: RBFOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 26785492, 27670201, 32368696, 27485310, 25205790, 35137168, 26785492, 28991257); Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Prepair 1000+ v1.992 FOXN1 Michelle Torres reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10206641, 20978268, 20978268, 28636882, 31566583, 31447097; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 FANCE Michelle Torres reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anemia, complementation group E MIM#600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EOGT Michelle Torres reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31368252, 23522784, 29924900; Phenotypes: Adams-Oliver syndrome 4 MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 ELP1 Clare Hunt changed review comment from: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age.

HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).

Gene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. Also previously referred to as Riley-Day syndrome.
From Mendeliome; AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.; to: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age.

HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).

Gene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31.

From Mendeliome; AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.
Prepair 1000+ v1.992 ELP1 Clare Hunt changed review comment from: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age. HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).

Gene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. Also previously referred to as Riley-Day syndrome.; to: From OMIM; Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception. The disorder is inevitably fatal, with only 50% of patients reaching 40 years of age.

HSAN3 has a high carrier frequency in the Ashkenazi Jewish population (summary by Morini et al., 2016).

Gene previously referred to as IKBKAP gene (ELP1; 603722) located on chromosome 9q31. Also previously referred to as Riley-Day syndrome.
From Mendeliome; AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.
Prepair 1000+ v1.992 ELP1 Clare Hunt reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179021, 4322121, 16777588, 30905397; Phenotypes: Dysautonomia, familial MIM#223900, Hereditary sensory and autonomic neuropathy type III (HSAN3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EIF2S3 Clare Hunt reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.992 EDAR Clare Hunt changed review comment from: Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED.; to: Well-established gene-disease association. Hypohidrotic ectodermal dysplasia (HED) is characterised by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). Biallelic loss-of-function variants cause early onset classic HED, whereas monoallelic dominant-negative variants cause mild HED.
Prepair 1000+ v1.992 EDAR Clare Hunt reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431241, 16435307, 20979233, 23401279; Phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619, autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.992 ENPP1 Michelle Torres reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36150100; Phenotypes: Arterial calcification, generalized, of infancy, 1 MIM#208000, Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 TAZ Ee Ming Wong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299040; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v1.34 EP400 Bryony Thompson Marked gene: EP400 as ready
Intellectual disability syndromic and non-syndromic v1.34 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.34 EP400 Bryony Thompson Classified gene: EP400 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.34 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.33 EP400 Sangavi Sivagnanasundram gene: EP400 was added
gene: EP400 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EP400 were set to 39708813
Phenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Review for gene: EP400 was set to GREEN
Added comment: 6 unrelated probands presenting with epilepsy with NDD (including ID and DD) had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.

Knockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour.
Sources: Literature
Vascular Malformations_Germline v1.11 LRRC8C Sangavi Sivagnanasundram gene: LRRC8C was added
gene: LRRC8C was added to Vascular Malformations_Germline. Sources: Literature
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056
Mode of pathogenicity for gene: LRRC8C was set to Other
Review for gene: LRRC8C was set to AMBER
Added comment: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy.

Two individuals from unrelated families presenting with similar features consistent with TIMES syndrome.
Leu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF.
Supporting in vitro functional assay was conducted however further evidence is required to upgrade the gene classification.
Sources: Literature
Genetic Epilepsy v1.90 EP400 Bryony Thompson Marked gene: EP400 as ready
Genetic Epilepsy v1.90 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Prepair 1000+ v1.992 SUMF1 Ee Ming Wong reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30896912; Phenotypes: Multiple sulfatase deficiency (MIM#272200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v1.90 EP400 Bryony Thompson Classified gene: EP400 as Green List (high evidence)
Genetic Epilepsy v1.90 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.33 LRRC8C Sangavi Sivagnanasundram gene: LRRC8C was added
gene: LRRC8C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056
Mode of pathogenicity for gene: LRRC8C was set to Other
Review for gene: LRRC8C was set to AMBER
Added comment: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy.

Two individuals from unrelated families presenting with similar features consistent with TIMES syndrome.
Leu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF.
Supporting in vitro functional assay was conducted however further evidence is required to upgrade the gene classification.
Sources: Literature
Mendeliome v1.2238 EP400 Bryony Thompson Marked gene: EP400 as ready
Mendeliome v1.2238 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Mendeliome v1.2238 EP400 Bryony Thompson Classified gene: EP400 as Green List (high evidence)
Mendeliome v1.2238 EP400 Bryony Thompson Gene: ep400 has been classified as Green List (High Evidence).
Mendeliome v1.2237 LRRC8C Sangavi Sivagnanasundram changed review comment from: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy.

Two individuals from unrelated families presenting with similar features consistent with TIMES syndrome.
Leu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF.
Sources: Literature; to: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy.

Two individuals from unrelated families presenting with similar features consistent with TIMES syndrome.
Leu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF.
Supporting in vitro functional assay was conducted however further evidence is required to upgrade the gene classification.
Sources: Literature
Mendeliome v1.2237 LRRC8C Sangavi Sivagnanasundram edited their review of gene: LRRC8C: Changed rating: AMBER
Prepair 1000+ v1.992 DPAGT1 Clare Hunt reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22304930, 22742743, 16870884; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 ITPR1 Lauren Thomas reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.992 EIF2B1 Michelle Torres reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34745209; Phenotypes: Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DNAI2 Clare Hunt reviewed gene: DNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18950741; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.89 EP400 Sangavi Sivagnanasundram gene: EP400 was added
gene: EP400 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EP400 were set to 39708813
Phenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Review for gene: EP400 was set to GREEN
Added comment: 6 unrelated probands presenting with epilepsy with NDD had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.

Knockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour.
Sources: Literature
Mendeliome v1.2237 EP400 Sangavi Sivagnanasundram gene: EP400 was added
gene: EP400 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EP400 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EP400 were set to 39708813
Phenotypes for gene: EP400 were set to neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930
Review for gene: EP400 was set to GREEN
Added comment: 6 unrelated probands presenting with epilepsy with NDD had compound heterozygous variants in EP400. They were confirmed in trans and inherited from their asymptomatic parents.

Knockdown of EP400 ortholog in Drosophila showed an increase in seizure-like susceptibility and abnormal neurological behaviour.
Sources: Literature
Prepair 1000+ v1.992 SCARB2 Ee Ming Wong reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26677510, 35346091; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure (MIM #254900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 EFNB1 Michelle Torres reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15166289, 18627045, 23335590; Phenotypes: Craniofrontonasal dysplasia MIM#304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.992 ISCA1 Lauren Thomas changed review comment from: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes; to: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

Most recent case report: PMID 32092383 (4th independent family)
Prepair 1000+ v1.992 ISCA1 Lauren Thomas changed review comment from: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes; to: Multiple mitochondrial dysfunctions syndrome-5 (MMDS5) is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood.

HGNC approved symbol/name: ISCA1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Prepair 1000+ v1.992 DDX11 Michelle Torres reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30216658; Phenotypes: Warsaw breakage syndrome MIM#613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 ISCA1 Lauren Thomas reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28356563, 29767723; Phenotypes: Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DCHS1 Michelle Torres reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1 MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DARS Michelle Torres reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27816769; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 IL12RB1 Lauren Thomas reviewed gene: IL12RB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 9603733, 9603732, 12591909, 15736007, 23864330; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 COL7A1 Michelle Torres reviewed gene: COL7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31670143, 32506467, 25639640; Phenotypes: Epidermolysis bullosa dystrophica inversa MIM#226600, Epidermolysis bullosa dystrophica, autosomal recessive MIM#226600, Epidermolysis bullosa dystrophica, localisata variant MIM#226600, Epidermolysis bullosa pruriginosa MIM#604129, Epidermolysis bullosa, pretibial MIM#131850, Transient bullous of the newborn MIM#131705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DGUOK Clare Hunt reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12874104, 15887277, 23043144; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880, Portal hypertension, noncirrhotic, 1, MIM# 617068, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 DGKE Clare Hunt reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CYP4F22 Clare Hunt reviewed gene: CYP4F22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CEP78 Michelle Torres reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: None; Publications: 35240912; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 CNGA3 Michelle Torres reviewed gene: CNGA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36980963; Phenotypes: Achromatopsia 2 MIM#216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 COL6A3 Michelle Torres reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676, 37082441; Phenotypes: Bethlem myopathy 1C MIM#620726, Ullrich congenital muscular dystrophy 1C MIM#620728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 RCBTB1 Ee Ming Wong reviewed gene: RCBTB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486781, 33104391, 33624564; Phenotypes: Retinal dystrophy with or without extraocular anomalies (MIM#617175); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PTH1R Ee Ming Wong reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15525660, 17164305, 39276366; Phenotypes: Chondrodysplasia, Blomstrand type (MIM#215045), Eiken syndrome (MIM#600002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 POR Ee Ming Wong changed review comment from: - PORD (P450 oxidoreductase deficiency) is associated with disorders of sex development in both sexes, where Antley-Bixler (ABS) syndrome is the name given to the severe form
- Skeletal abnormalities of the ABS phenotype are frequently observed in individuals with PORD, characterised by craniosynostosis, brachycephaly, radio-ulnar or radio-humeral synostosis, bowed femora, arachnodactyly, midface hypoplasia, proptosis, and choanal stenosis. The severity of malformations varies from mild to moderate and severe.

NB: Only the more severe MIM# has been added to this gene list.; to: - PORD (P450 oxidoreductase deficiency) is associated with disorders of sex development in both sexes, where Antley-Bixler (ABS) syndrome is the name given to the severe form
- Skeletal abnormalities of the ABS phenotype are frequently observed in individuals with PORD, characterised by craniosynostosis, brachycephaly, radio-ulnar or radio-humeral synostosis, bowed femora, arachnodactyly, midface hypoplasia, proptosis, and choanal stenosis. The severity of malformations varies from mild to moderate and severe.
- Congenital onset

NB: Only the more severe MIM# has been added to this gene list.
Prepair 1000+ v1.992 POR Ee Ming Wong reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 20301592, 35842891; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PYCR2 Ee Ming Wong reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating 10 (MIM# 616420); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PMPCA Ee Ming Wong reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia 2 (MIM# 213200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PKLR Ee Ming Wong reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1896471, 9160692, 9057665, 16704447, 9090535, 32702739; Phenotypes: Pyruvate Kinase deficiency (MIM# 266200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PIGT Ee Ming Wong reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30976099, 25943031, 24906948, 24906948, 24906948, 28728837, 28728837, 28728837; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PCNT Ee Ming Wong reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PCDH12 Ee Ming Wong reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 PC Ee Ming Wong changed review comment from: - Well-established gene disease association
- Age of onset: neonatal to early childhood
- Severity: variable severity - three subtypes

1. Type A (infantile form aka North American form): characterized by infantile onset of metabolic and lactic acidosis, delayed motor development, intellectual disability, poor linear growth and/or weight gain, and neurologic findings. Brain anomalies can be noted. Most affected children die in infancy or early childhood.

2. Type B (severe neonatal form aka French form): characterized by neonatal or infantile onset of hypothermia, respiratory distress/failure, vomiting, severe lactic acidosis, hyperammonemia, and often hypoglycemia. Neurologic findings include brain abnormalities, lethargy, hypotonia, and pyramidal and extrapyramidal signs. Death typically occurs by age eight months.

3. Type C (intermittent/attenuated form aka Benign form): characterized by relatively normal or mildly delayed neurologic
development, motor and/or gait abnormalities, (rarely) seizures, episodic movement disorders, and metabolic
acidosis. Life span is unknown but survival into adulthood has been reported.; to: - Well-established gene disease association
- Age of onset: neonatal to early childhood
- Severity: variable severity - three subtypes

1. Type A (infantile form aka North American form): characterized by infantile onset of metabolic and lactic acidosis, delayed motor development, intellectual disability, poor linear growth and/or weight gain, and neurologic findings. Brain anomalies can be noted. Most affected children die in infancy or early childhood.

2. Type B (severe neonatal form aka French form): characterized by neonatal or infantile onset of hypothermia, respiratory distress/failure, vomiting, severe lactic acidosis, hyperammonemia, and often hypoglycemia. Neurologic findings include brain abnormalities, lethargy, hypotonia, and pyramidal and extrapyramidal signs. Death typically occurs by age eight months.

3. Type C (intermittent/attenuated form aka Benign form): characterized by relatively normal or mildly delayed neurologic development, motor and/or gait abnormalities, (rarely) seizures, episodic movement disorders, and metabolic acidosis. Life span is unknown but survival into adulthood has been reported.
Prepair 1000+ v1.992 PC Ee Ming Wong reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9585612, 12112657, 20301764; Phenotypes: Pyruvate carboxylase deficiency (MIM#266150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrocephalus_Ventriculomegaly v0.127 ARID1B Bryony Thompson Classified gene: ARID1B as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.127 ARID1B Bryony Thompson Gene: arid1b has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.126 ARID1B Bryony Thompson gene: ARID1B was added
gene: ARID1B was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARID1B were set to 39680505
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1 MONDO:0007617
Review for gene: ARID1B was set to GREEN
Added comment: 13 de novo variants were identified in unrelated children (p = 1.80e-17) from a large cerebral ventriculomegaly cohort, including nine LoF variants. Other syndromic features were common.
Sources: Literature
Hydrocephalus_Ventriculomegaly v0.125 LDB1 Bryony Thompson Marked gene: LDB1 as ready
Hydrocephalus_Ventriculomegaly v0.125 LDB1 Bryony Thompson Gene: ldb1 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.125 LDB1 Bryony Thompson Classified gene: LDB1 as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.125 LDB1 Bryony Thompson Gene: ldb1 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.124 LDB1 Bryony Thompson gene: LDB1 was added
gene: LDB1 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature
Mode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB1 were set to 39680505
Phenotypes for gene: LDB1 were set to Congenital hydrocephalus MONDO:0016349
Review for gene: LDB1 was set to GREEN
Added comment: Exome-wide significant enrichment of LDB1 protein-altering de novo variants (p = 1.11 x 10-15) in a large cerebral ventriculomegaly cohort (>2,697 parent-proband trios). 8 unrelated cases with ventriculomegaly, developmental delay, and dysmorphic features with de novo variants (7 LoF variants truncate LDB1's carboxy-terminal LIM interaction domain & 1 missense).
Sources: Literature
Mendeliome v1.2237 LDB1 Bryony Thompson Marked gene: LDB1 as ready
Mendeliome v1.2237 LDB1 Bryony Thompson Gene: ldb1 has been classified as Green List (High Evidence).
Mendeliome v1.2237 LDB1 Bryony Thompson Classified gene: LDB1 as Green List (high evidence)
Mendeliome v1.2237 LDB1 Bryony Thompson Gene: ldb1 has been classified as Green List (High Evidence).
Mendeliome v1.2236 LDB1 Bryony Thompson gene: LDB1 was added
gene: LDB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB1 were set to 39680505
Phenotypes for gene: LDB1 were set to Congenital hydrocephalus MONDO:0016349
Review for gene: LDB1 was set to GREEN
Added comment: Exome-wide significant enrichment of LDB1 protein-altering de novo variants (p = 1.11 x 10-15) in a large cerebral ventriculomegaly cohort (>2,697 parent-proband trios). 8 unrelated cases with ventriculomegaly, developmental delay, and dysmorphic features with de novo variants (7 LoF variants truncate LDB1's carboxy-terminal LIM interaction domain & 1 missense).
Sources: Literature
Prepair 1000+ v1.992 NPR2 Ee Ming Wong reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15146390; Phenotypes: Acromesomelic dysplasia, Maroteaux type (MIM#602875); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NMNAT1 Ee Ming Wong changed review comment from: Syndromic and non-syndromic causes of LCA are associated with bi-allelic variants in this gene.

Non-syndromic LCA: multiple affected families reported, p.Glu257Lys is a common founder variant.

Syndromic disorder: three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant.

Green for non-syndromic LCA (MIM# added to review). No additional affected individuals in the literature (Amber? MIM# has not been added to review).; to: Syndromic and non-syndromic causes of LCA are associated with bi-allelic variants in this gene.

Non-syndromic LCA: multiple affected families reported, p.Glu257Lys is a common founder variant.

Syndromic disorder: three families reported, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant.

Green for non-syndromic LCA (MIM# added to review). No additional affected individuals in the literature for syndromic LCA (Amber? MIM# has not been added to review).
Prepair 1000+ v1.992 NMNAT1 Ee Ming Wong reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32533184, 33668384, 22842230, 22842229; Phenotypes: Leber congenital amaurosis 9 (MIM#608553); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 CHST14 Michelle Torres edited their review of gene: CHST14: Added comment: Musculocontractural EDS type 1 (mcEDS) is a rare type of EDS caused by biallelic loss-of-function variants in CHST14 (PMID: 34815299).

Major features are: congenital multiple contractures and characteristic craniofacial features at birth or in early infancy; congenital multiple contractures and characteristic cutaneous features in adolescence and in adulthood (PMID: 34815299).

The CHST14 gene has only 1 exon, therefore PTV variants escape NMD. Missense and in-frame deletion have also been reported with a similar phenotype to that caused by PTV (PMID: 34815299).; Changed rating: GREEN
Prepair 1000+ v1.992 CHST14 Michelle Torres reviewed gene: CHST14: Rating: ; Mode of pathogenicity: None; Publications: 34815299; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NFU1 Ee Ming Wong reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221, 36256512; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1 (MIM# 605711), Spastic paraplegia 93 (MIM# 620938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 CFI Michelle Torres reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942469; Phenotypes: Complement factor I deficiency MIM#610984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NEK1 Ee Ming Wong reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly (MIM# 263520); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NDUFS6 Ee Ming Wong reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NBN Ee Ming Wong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33488600, 33082212; Phenotypes: Nijmegen breakage syndrome (MIM#251260); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 TCAP Crystle Lee changed review comment from: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation.

Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)
PMID: 37216648: Onset range from 6-35.
PMID: 25724973: Onset in teens. Wheelchair bound by 44.
PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age.

Other similar/more severe LDMG phenotypes included in panel.; to: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation.

Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)
PMID: 37216648: Onset range from 6-35.
PMID: 25724973: Onset in teens. Wheelchair bound by 44.
PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age.

Other similar/more severe LGMD phenotypes included in panel.
Prepair 1000+ v1.992 TCAP Crystle Lee changed review comment from: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf
hypertrophy and loss of ambulation.

Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)
PMID: 37216648: Onset range from 6-35.
PMID: 25724973: Onset in teens. Wheelchair bound by 44.
PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age.

Other similar/more severe LDMG phenotypes included in panel.; to: Established for LGMD. Rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation.

Mean age at onset 12.5 years (range 2 to 15 years). Progression to wheelchair in fourth decade (OMIM)
PMID: 37216648: Onset range from 6-35.
PMID: 25724973: Onset in teens. Wheelchair bound by 44.
PMID: 25055047: Reported PTCs in 2 families. In at least one family, with 3 affected family members, one was wheelchair bound state at 21 years of age.

Other similar/more severe LDMG phenotypes included in panel.
Prepair 1000+ v1.992 TCAP Crystle Lee edited their review of gene: TCAP: Changed rating: GREEN
Prepair 1000+ v1.992 TCAP Crystle Lee reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 37216648, 25724973; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NANS Ee Ming Wong reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8152878, 15726110, 8723082, 27213289, 7551156; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 NALCN Ee Ming Wong reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23749988, 24075186, 3016785; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 TBC1D24 Crystle Lee reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 27281533, 25719194; Phenotypes: Deafness, autosomal recessive 86 MIM#614617, Developmental and epileptic encephalopathy 16 MIM#615338, DOORS syndrome MIM#220500, Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105, Myoclonic epilepsy, infantile, familial MIM#605021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 NAA10 Ee Ming Wong reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522270, 34200686, 37130971, 30842225, 2443133134075687; Phenotypes: Ogden syndrome (MIM#300855), Syndromic microphthalmia 1 (MIM#309800); 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
Prepair 1000+ v1.992 STX11 Crystle Lee reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20486178, 16582076; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SQSTM1 Crystle Lee reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679, 39214971; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SLC12A6 Crystle Lee reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 34706912; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 SDHAF1 Crystle Lee reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM#619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 RMND1 Crystle Lee reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27412952; Phenotypes: Combined oxidative phosphorylation deficiency 11, MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MTR Ee Ming Wong reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968736, 8968737, 9683607, 12068375; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 RFXANK Crystle Lee reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32875002; Phenotypes: MHC class II deficiency 2, MIM#620815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 RDH12 Crystle Lee reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31884613, 19011012, 28471114, 34031043, 35491887; Phenotypes: Leber congenital amaurosis 13, MIM#612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.992 MOCS1 Ee Ming Wong reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 9731530; Phenotypes: Molybdenum cofactor deficiency A (MIM#252150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.992 RARS2 Crystle Lee reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38009286, 29881806; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM#611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2235 LRRC8C Sangavi Sivagnanasundram gene: LRRC8C was added
gene: LRRC8C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056
Mode of pathogenicity for gene: LRRC8C was set to Other
Review for gene: LRRC8C was set to RED
Added comment: TIMES syndrome is a multisystem disorder characterised by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Patients exhibit striking cutis marmorata in infancy.

Two individuals from unrelated families presenting with similar features consistent with TIMES syndrome.
Leu400IlefsTer8 and Val390Leu variants were identified however the proposed mechanism of disease is GoF.
Sources: Literature
Mendeliome v1.2235 WASHC3 Sangavi Sivagnanasundram gene: WASHC3 was added
gene: WASHC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WASHC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915
Phenotypes for gene: WASHC3 were set to neurodevelopmental disorder MONDO:0700092
Review for gene: WASHC3 was set to GREEN
Added comment: Three unrelated families with short stature, distinctive facies and neurodevelopmental abnormalities. Two different rare missense variants were identified between the three families (c.207A>C:p.L69F and c.1A>T, p.M1?).
In vitro functional assay was conducted on both variants showing impaired protein function supportive of disease mechanism.
Sources: Literature
Skeletal dysplasia v0.298 SLC13A1 Sangavi Sivagnanasundram reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1016/j.gimo.2024.101958; Phenotypes: sulfation-related bone disorder MONDO:0019688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.2235 SLC13A1 Sangavi Sivagnanasundram reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: None; Publications: doi: https://doi.org/10.1016/j.gimo.2024.101958; Phenotypes: sulfation-related bone disorder MONDO:0019688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.33 RICTOR Bryony Thompson Marked gene: RICTOR as ready
Intellectual disability syndromic and non-syndromic v1.33 RICTOR Bryony Thompson Gene: rictor has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.33 RICTOR Bryony Thompson Classified gene: RICTOR as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.33 RICTOR Bryony Thompson Gene: rictor has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.32 RICTOR Bryony Thompson gene: RICTOR was added
gene: RICTOR was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RICTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RICTOR were set to 39738822
Phenotypes for gene: RICTOR were set to Neurodevelopmental disorder MONDO:0700092, RICTOR-related
Review for gene: RICTOR was set to GREEN
Added comment: 8 unrelated cases presenting with ID and/or developmental delay with de novo or heterozygous variants inherited from one affected parent, including three missense variants, four loss-of-function variants and one 3 kb deletion encompassing RICTOR. Possible gain of function and loss of function mechanism of disease.
Sources: Literature
Mendeliome v1.2235 RICTOR Bryony Thompson Marked gene: RICTOR as ready
Mendeliome v1.2235 RICTOR Bryony Thompson Gene: rictor has been classified as Green List (High Evidence).
Mendeliome v1.2235 RICTOR Bryony Thompson Classified gene: RICTOR as Green List (high evidence)
Mendeliome v1.2235 RICTOR Bryony Thompson Gene: rictor has been classified as Green List (High Evidence).
Mendeliome v1.2234 RICTOR Bryony Thompson gene: RICTOR was added
gene: RICTOR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RICTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RICTOR were set to 39738822
Phenotypes for gene: RICTOR were set to Neurodevelopmental disorder MONDO:0700092, RICTOR-related
Review for gene: RICTOR was set to GREEN
Added comment: 8 unrelated cases presenting with ID and/or developmental delay with de novo or heterozygous variants inherited from one affected parent, including three missense variants, four loss-of-function variants and one 3 kb deletion encompassing RICTOR. Possible gain of function and loss of function mechanism of disease.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.31 UBR5 Bryony Thompson Marked gene: UBR5 as ready
Intellectual disability syndromic and non-syndromic v1.31 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.31 UBR5 Bryony Thompson Classified gene: UBR5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.31 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.30 UBR5 Bryony Thompson gene: UBR5 was added
gene: UBR5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR5 were set to 39721588
Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related
Review for gene: UBR5 was set to GREEN
Added comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays.
Sources: Literature
Autism v0.203 UBR5 Bryony Thompson Marked gene: UBR5 as ready
Autism v0.203 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Marked gene: UBR5 as ready
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Autism v0.203 UBR5 Bryony Thompson Classified gene: UBR5 as Green List (high evidence)
Autism v0.203 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Classified gene: UBR5 as Green List (high evidence)
Genetic Epilepsy v1.89 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Autism v0.202 UBR5 Bryony Thompson gene: UBR5 was added
gene: UBR5 was added to Autism. Sources: Literature
Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR5 were set to 39721588
Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related
Review for gene: UBR5 was set to GREEN
Added comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays.
Sources: Literature
Genetic Epilepsy v1.88 UBR5 Bryony Thompson gene: UBR5 was added
gene: UBR5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR5 were set to 39721588
Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related
Review for gene: UBR5 was set to GREEN
Added comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays.
Sources: Literature
Mendeliome v1.2233 UBR5 Bryony Thompson Marked gene: UBR5 as ready
Mendeliome v1.2233 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Differences of Sex Development v1.2 UBR5 Bryony Thompson Marked gene: UBR5 as ready
Differences of Sex Development v1.2 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Differences of Sex Development v1.2 UBR5 Bryony Thompson Classified gene: UBR5 as Green List (high evidence)
Differences of Sex Development v1.2 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Differences of Sex Development v1.1 UBR5 Bryony Thompson gene: UBR5 was added
gene: UBR5 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR5 were set to 39721588
Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related
Review for gene: UBR5 was set to GREEN
Added comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays.
Sources: Literature
Mendeliome v1.2233 UBR5 Bryony Thompson Classified gene: UBR5 as Green List (high evidence)
Mendeliome v1.2233 UBR5 Bryony Thompson Gene: ubr5 has been classified as Green List (High Evidence).
Mendeliome v1.2232 UBR5 Bryony Thompson gene: UBR5 was added
gene: UBR5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBR5 were set to 39721588
Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder MONDO:0700092, UBR5-related
Review for gene: UBR5 was set to GREEN
Added comment: 29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays.
Sources: Literature
Mendeliome v1.2231 MRUPAV_PLIN4 Bryony Thompson Marked STR: MRUPAV_PLIN4 as ready
Mendeliome v1.2231 MRUPAV_PLIN4 Bryony Thompson Str: mrupav_plin4 has been classified as Green List (High Evidence).
Mendeliome v1.2231 MRUPAV_PLIN4 Bryony Thompson Classified STR: MRUPAV_PLIN4 as Green List (high evidence)
Mendeliome v1.2231 MRUPAV_PLIN4 Bryony Thompson Str: mrupav_plin4 has been classified as Green List (High Evidence).
Mendeliome v1.2230 MRUPAV_PLIN4 Bryony Thompson STR: MRUPAV_PLIN4 was added
STR: MRUPAV_PLIN4 was added to Mendeliome. Sources: Literature
STR tags were added to STR: MRUPAV_PLIN4.
Mode of inheritance for STR: MRUPAV_PLIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: MRUPAV_PLIN4 were set to 32451610; 37145156; 36151849; 35499779
Phenotypes for STR: MRUPAV_PLIN4 were set to myopathy, distal, with rimmed vacuoles MONDO:0014945
Review for STR: MRUPAV_PLIN4 was set to GREEN
STR: MRUPAV_PLIN4 was marked as clinically relevant
Added comment: Expansion of 33-mer (33 amino acids, 99 bp) identified in coding exon 3 (exon 5) of PLIN4 via linkage analysis and long read sequencing in a large Italian cohort with progressive myopathy with specific pathology including rimmed ubiquitin-positive autophagic vacuolation.
Suggested disease name myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV). An additional 4 unrelated Chinese families/probands were reported. The repeat expansion is not detectable using short-read sequencing.
Normal PLIN4 alleles: 27-31 x 33-mer
Pathogenic: ≥39 x 33-mer
Sources: Literature
Prepair 1000+ v1.992 EARS2 Lilian Downie Marked gene: EARS2 as ready
Prepair 1000+ v1.992 EARS2 Lilian Downie Gene: ears2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.992 EARS2 Lilian Downie Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924 (3) to Combined oxidative phosphorylation deficiency 12 MIM#614924
Prepair 1000+ v1.991 EARS2 Lilian Downie Publications for gene: EARS2 were set to
Prepair 1000+ v1.990 EARS2 Lilian Downie reviewed gene: EARS2: Rating: ; Mode of pathogenicity: None; Publications: 39173847; Phenotypes: Combined oxidative phosphorylation deficiency 12 MIM#614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.990 DYM Lilian Downie Marked gene: DYM as ready
Prepair 1000+ v1.990 DYM Lilian Downie Gene: dym has been classified as Green List (High Evidence).
Prepair 1000+ v1.990 DYM Lilian Downie Phenotypes for gene: DYM were changed from Dyggve-Melchior-Clausen disease, 223800 (3) to Dyggve-Melchior-Clausen disease MIM#223800; Smith-McCort dysplasia MIM#607326
Prepair 1000+ v1.989 DYM Lilian Downie Publications for gene: DYM were set to
Prepair 1000+ v1.988 DYM Lilian Downie reviewed gene: DYM: Rating: ; Mode of pathogenicity: None; Publications: 16326827, 38860472, 35477554; Phenotypes: Dyggve-Melchior-Clausen disease MIM#223800, Smith-McCort dysplasia MIM#607326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.988 DKC1 Lilian Downie Marked gene: DKC1 as ready
Prepair 1000+ v1.988 DKC1 Lilian Downie Gene: dkc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.988 DKC1 Lilian Downie Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, 305000 (3) to Dyskeratosis congenita, X-linked MIM#305000
Prepair 1000+ v1.987 DKC1 Lilian Downie Publications for gene: DKC1 were set to
Prepair 1000+ v1.986 DKC1 Lilian Downie reviewed gene: DKC1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20301779; Phenotypes: Dyskeratosis congenita, X-linked MIM#305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.986 DCAF17 Lilian Downie Marked gene: DCAF17 as ready
Prepair 1000+ v1.986 DCAF17 Lilian Downie Gene: dcaf17 has been classified as Green List (High Evidence).
Prepair 1000+ v1.986 DCAF17 Lilian Downie Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080 (3) to Woodhouse-Sakati syndrome MIM#241080
Prepair 1000+ v1.985 DCAF17 Lilian Downie Publications for gene: DCAF17 were set to
Prepair 1000+ v1.984 DCAF17 Lilian Downie reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542792, 38320940, 30409855, 35876063; Phenotypes: Woodhouse-Sakati syndrome MIM#241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 TMEM107 Kate Scarff reviewed gene: TMEM107: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26518474, 26595381, 26123494; Phenotypes: Orofaciodigital syndrome XVI, MIM #617563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 TAP1 Kate Scarff reviewed gene: TAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30189467, 10074494, 28161407, 36839544, 16087697, 10931128; Phenotypes: MHC class I deficiency 1, MIM #604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SPATA7 Kate Scarff reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31908400, 32799588; Phenotypes: Leber congenital amaurosis 3, MIM #604232, Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC4A11 Kate Scarff reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20118786, 21203343, 26451371, 17220209, 32884076; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM #217400 (CDPD), Corneal endothelial dystrophy, autosomal recessive, MIM#217700 (CHED2); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC4A11 Kate Scarff Deleted their review
Prepair 1000+ v1.984 SLC4A11 Kate Scarff reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM #217400, Corneal endothelial dystrophy, MIM #217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC35D1 Kate Scarff reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17952091, 19508970, 31423530, 38058750, 35934917; Phenotypes: Schneckenbecken dysplasia, MIM #269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC25A38 Kate Scarff reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34298585, 19412178; Phenotypes: Anemia, sideroblastic, 1, MIM #300751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.984 SLC16A2 Kate Scarff reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301789, 20083155, 15980113; Phenotypes: Allan-Herndon-Dudley syndrome, MIM #300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.984 RP2 Kate Scarff reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10053026, 11462235, 22131869, 8225316, 26143542, 16969763, 14564670; Phenotypes: Retinitis pigmentosa 2, MIM #312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.984 WWOX Zornitza Stark Marked gene: WWOX as ready
Prepair 1000+ v1.984 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Prepair 1000+ v1.984 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from Epileptic encephalopathy, early infantile, 28, 616211 (3) to Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211
Prepair 1000+ v1.983 WWOX Zornitza Stark Publications for gene: WWOX were set to
Prepair 1000+ v1.982 WWOX Zornitza Stark edited their review of gene: WWOX: Changed publications: 33916893
Prepair 1000+ v1.982 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322, Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.982 XPA Zornitza Stark Marked gene: XPA as ready
Prepair 1000+ v1.982 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Prepair 1000+ v1.982 XPA Zornitza Stark Phenotypes for gene: XPA were changed from Xeroderma pigmentosum, group A, 278700 (3) to Xeroderma pigmentosum, group A , MIM#278700
Prepair 1000+ v1.981 XPA Zornitza Stark reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A , MIM#278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.981 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Prepair 1000+ v1.981 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Prepair 1000+ v1.981 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from Restrictive dermopathy, lethal, 275210 (3) to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; Restrictive dermopathy, lethal, MIM# 275210
Prepair 1000+ v1.980 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Prepair 1000+ v1.979 ZMPSTE24 Zornitza Stark edited their review of gene: ZMPSTE24: Changed phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, Restrictive dermopathy, lethal, MIM# 275210
Prepair 1000+ v1.979 ZMPSTE24 Zornitza Stark edited their review of gene: ZMPSTE24: Changed publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638, 15937076, 16671095, 22718200, 29794150, 24169522
Prepair 1000+ v1.979 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.979 ZNF711 Zornitza Stark Marked gene: ZNF711 as ready
Prepair 1000+ v1.979 ZNF711 Zornitza Stark Gene: znf711 has been classified as Green List (High Evidence).
Prepair 1000+ v1.979 ZNF711 Zornitza Stark Phenotypes for gene: ZNF711 were changed from Mental retardation, X-linked 97, 300803 (3) to Intellectual developmental disorder, X-linked 97, MIM# 300803
Prepair 1000+ v1.978 ZNF711 Zornitza Stark reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 97, MIM# 300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v1.29 ZNF711 Zornitza Stark Phenotypes for gene: ZNF711 were changed from Mental retardation, X-linked 97; OMIM #300803 to Intellectual developmental disorder, X-linked 97, MIM# 300803
Intellectual disability syndromic and non-syndromic v1.28 ZNF711 Zornitza Stark reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 97, MIM# 300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.978 RBCK1 Kate Scarff changed review comment from: Characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood.

A 32kb deletion which included the three last exons of TRIB3 and the first four exons of RBCK1 was identified in one family, also had a nonsense mutation (PMID: 23104095).

The nature and localization of the underlying mutation might predict the phenotype, with N-terminal mutations mainly causing immunological dysfunction. In contrast, variants in the middle- or C-terminal regions were presumed to predominantly cause cardiomyopathy and neuromuscular symptoms. Further, it was suggested that truncating variants might generally result in more severe phenotypes than missense mutations. Frameshift mutations beyond the N-terminus
of RBCK1 may lead to a combined phenotype including both myopathy and immunological dysfunction in single
families (PMID: 29260357).; to: Characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood.

A 32kb deletion which included the three last exons of TRIB3 and the first four exons of RBCK1 was identified in one family, also had a nonsense mutation (PMID: 23104095).

The nature and localization of the underlying mutation might predict the phenotype, with N-terminal mutations mainly causing immunological dysfunction. In contrast, variants in the middle- or C-terminal regions were presumed to predominantly cause cardiomyopathy and neuromuscular symptoms. Further, it was suggested that truncating variants might generally result in more severe phenotypes than missense mutations. Frameshift mutations beyond the N-terminus of RBCK1 may lead to a combined phenotype including both myopathy and immunological dysfunction in single families (PMID: 29260357).