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White matter disorders and cerebral calcification - narrow panel v0.11 HMBS Ellen McDonagh gene: HMBS was added
gene: HMBS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMBS were set to 27558376, 27271711
White matter disorders and cerebral calcification - narrow panel v0.11 HEXA Ellen McDonagh gene: HEXA was added
gene: HEXA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXA were set to MIM#272800
White matter disorders and cerebral calcification - narrow panel v0.11 GTF2H5 Ellen McDonagh gene: GTF2H5 was added
gene: GTF2H5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Photosensitive trichothiodystrophy 3; Trichothiodystrophy 3, photosensitive
White matter disorders and cerebral calcification - narrow panel v0.11 GTF2E2 Ellen McDonagh gene: GTF2E2 was added
gene: GTF2E2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2E2 were set to 26996949
Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive; 616943
White matter disorders and cerebral calcification - narrow panel v0.11 GJC2 Ellen McDonagh gene: GJC2 was added
gene: GJC2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to 25655951
Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive, 613206; Leukodystrophy, hypomyelinating, 2, 608804; Lymphedema, hereditary, IC, 613480
White matter disorders and cerebral calcification - narrow panel v0.11 GFM1 Ellen McDonagh gene: GFM1 was added
gene: GFM1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFM1 were set to 25655951
Phenotypes for gene: GFM1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Combined oxidative phosphorylation deficiency 1; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 GBE1 Ellen McDonagh gene: GBE1 was added
gene: GBE1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 25655951
Phenotypes for gene: GBE1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Polyglucosan body disease, adult form; Polyglucosan Body Disease (PGBD)
White matter disorders and cerebral calcification - narrow panel v0.11 FUCA1 Ellen McDonagh gene: FUCA1 was added
gene: FUCA1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUCA1 were set to 25655951
Phenotypes for gene: FUCA1 were set to Fucosidosis; General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 FLVCR2 Ellen McDonagh gene: FLVCR2 was added
gene: FLVCR2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790
White matter disorders and cerebral calcification - narrow panel v0.11 FAM126A Ellen McDonagh gene: FAM126A was added
gene: FAM126A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM126A were set to 25655951
Phenotypes for gene: FAM126A were set to Hypomyelination and Congenital Cataract; Leukodystrophy, hypomyelinating, 5, 610532
White matter disorders and cerebral calcification - narrow panel v0.11 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to MIM#612319
White matter disorders and cerebral calcification - narrow panel v0.11 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 25655951
Phenotypes for gene: ETFDH were set to Glutaric Acidemia IIC; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC8 Ellen McDonagh Added phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cockayne Syndrome; UV-sensitive syndrome for gene: ERCC8
Publications for gene ERCC8 were changed from 26204423 to 25655951
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC8 Ellen McDonagh gene: ERCC8 was added
gene: ERCC8 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC8 were set to 26204423
Phenotypes for gene: ERCC8 were set to Cockayne syndrome phenotype and UV-sensitive syndrome; PMID: 26204423; Cockayne syndrome, type A
Mode of pathogenicity for gene: ERCC8 was set to Other - please provide details in the comments
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC6 Ellen McDonagh Added phenotypes Intercranial Calcifications for gene: ERCC6
Publications for gene ERCC6 were changed from 26204423; 26749132 to PMID: 7063265
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC6 Ellen McDonagh Mode of pathogenicity for gene ERCC6 was changed from to Other - please provide details in the comments
Added phenotypes De Sanctis-Cacchione syndrome; PMID: 26204423; Cockayne syndrome phenotype and UV-sensitive syndrome; Cockayne syndrome B; UV-sensitive syndrome 1; Cockayne syndrome, type B for gene: ERCC6
Publications for gene ERCC6 were changed from 25655951 to 26204423; 26749132
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6 were set to 25655951
Phenotypes for gene: ERCC6 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cockayne syndrome; UV-sensitive syndrome
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC5 Ellen McDonagh gene: ERCC5 was added
gene: ERCC5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC4 Ellen McDonagh gene: ERCC4 was added
gene: ERCC4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Xeroderma pigmentosum, type F/Cockayne syndrome, 278760; Xeroderma pigmentosum, group F, 278760
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC3 Ellen McDonagh gene: ERCC3 was added
gene: ERCC3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum, group B, 610651; Trichothiodystrophy, 601675
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC2 Ellen McDonagh Publications for gene ERCC2 were changed from to MIM#601675
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC2 Ellen McDonagh gene: ERCC2 was added
gene: ERCC2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675
White matter disorders and cerebral calcification - narrow panel v0.11 ERCC1 Ellen McDonagh gene: ERCC1 was added
gene: ERCC1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC1 were set to 17273966 - ERCC1 deficiency in a patient with cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure; 23623389 - homozygous missense variant reported in a patient with Cockayne syndrome
Phenotypes for gene: ERCC1 were set to Xeroderma Pigmentosum
White matter disorders and cerebral calcification - narrow panel v0.11 EIF2B5 Ellen McDonagh gene: EIF2B5 was added
gene: EIF2B5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B5 were set to 12325082; 25655951; 11704758
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896; Ovarioleukodystrophy, 603896; General Leukodystrophy & Mitochondrial Leukoencephalopathy; eIF2B related disorder (Vanishing WM Disease or CACH)
White matter disorders and cerebral calcification - narrow panel v0.11 EIF2B4 Ellen McDonagh gene: EIF2B4 was added
gene: EIF2B4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B4 were set to 11835386; 25089094; 25655951; 12707859; 26043506
Phenotypes for gene: EIF2B4 were set to Ovarioleukodystrophy, 603896; Leukoencephaly with vanishing white matter, 603896
White matter disorders and cerebral calcification - narrow panel v0.11 EIF2B3 Ellen McDonagh gene: EIF2B3 was added
gene: EIF2B3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B3 were set to 11835386; 25655951; 19158808
Phenotypes for gene: EIF2B3 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with vanishing white matter 603896; eIF2B related disorder (Vanishing WM Disease or CACH)
White matter disorders and cerebral calcification - narrow panel v0.11 EIF2B2 Ellen McDonagh gene: EIF2B2 was added
gene: EIF2B2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 25655951
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood Ataxia with Central Nervous System Hypomyelination; General Leukodystrophy & Mitochondrial Leukoencephalopathy; eIF2B related disorder (Vanishing WM Disease or CACH); Ovarioleukodystrophy, 603896
White matter disorders and cerebral calcification - narrow panel v0.11 EIF2B1 Ellen McDonagh gene: EIF2B1 was added
gene: EIF2B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B1 were set to 16807905; 25655951; 15776425
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood Ataxia with Central Nervous System Hypomyelination; General Leukodystrophy & Mitochondrial Leukoencephalopathy; eIF2B related disorder (Vanishing WM Disease or CACH)
White matter disorders and cerebral calcification - narrow panel v0.11 EARS2 Ellen McDonagh gene: EARS2 was added
gene: EARS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EARS2 were set to 25655951
Phenotypes for gene: EARS2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL); Combined oxidative phosphorylation deficiency 12
White matter disorders and cerebral calcification - narrow panel v0.11 DGUOK Ellen McDonagh gene: DGUOK was added
gene: DGUOK was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 25655951
Phenotypes for gene: DGUOK were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 3
White matter disorders and cerebral calcification - narrow panel v0.11 DDB2 Ellen McDonagh gene: DDB2 was added
gene: DDB2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
White matter disorders and cerebral calcification - narrow panel v0.11 DARS2 Ellen McDonagh gene: DARS2 was added
gene: DARS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS2 were set to 25655951
Phenotypes for gene: DARS2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
White matter disorders and cerebral calcification - narrow panel v0.11 D2HGDH Ellen McDonagh gene: D2HGDH was added
gene: D2HGDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 25655951
Phenotypes for gene: D2HGDH were set to L2-Hydroxyglutaric aciduria
White matter disorders and cerebral calcification - narrow panel v0.11 CYP7B1 Ellen McDonagh gene: CYP7B1 was added
gene: CYP7B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to MIM#270800
White matter disorders and cerebral calcification - narrow panel v0.11 CYP2U1 Ellen McDonagh gene: CYP2U1 was added
gene: CYP2U1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive
White matter disorders and cerebral calcification - narrow panel v0.11 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 25655951
Phenotypes for gene: CYP27A1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis
White matter disorders and cerebral calcification - narrow panel v0.11 CTC1 Ellen McDonagh gene: CTC1 was added
gene: CTC1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 22387016; 22267198
Phenotypes for gene: CTC1 were set to Coats Plus syndrome; Cerebroretinal microangiopathy with calcifications and cysts, 612199
White matter disorders and cerebral calcification - narrow panel v0.11 COX15 Ellen McDonagh gene: COX15 was added
gene: COX15 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX15 were set to 25655951
Phenotypes for gene: COX15 were set to Mitochondrial complex IV disorders; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 COX10 Ellen McDonagh gene: COX10 was added
gene: COX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX10 were set to 24100867; 25655951; 12928484
Phenotypes for gene: COX10 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder
White matter disorders and cerebral calcification - narrow panel v0.11 COQ9 Ellen McDonagh gene: COQ9 was added
gene: COQ9 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ9 were set to 25655951; 19375058
Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 COQ8A Ellen McDonagh gene: COQ8A was added
gene: COQ8A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8A were set to 25655951
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4
White matter disorders and cerebral calcification - narrow panel v0.11 COQ2 Ellen McDonagh gene: COQ2 was added
gene: COQ2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ2 were set to 25655951
Phenotypes for gene: COQ2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1
White matter disorders and cerebral calcification - narrow panel v0.11 CNTNAP1 Ellen McDonagh gene: CNTNAP1 was added
gene: CNTNAP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTNAP1 were set to 29882456
White matter disorders and cerebral calcification - narrow panel v0.11 CLCN2 Ellen McDonagh gene: CLCN2 was added
gene: CLCN2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCN2 were set to 25655951
Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema
White matter disorders and cerebral calcification - narrow panel v0.11 BOLA3 Ellen McDonagh gene: BOLA3 was added
gene: BOLA3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BOLA3 were set to 29654549, 29501406, 24334290, 21944046
White matter disorders and cerebral calcification - narrow panel v0.11 BCS1L Ellen McDonagh gene: BCS1L was added
gene: BCS1L was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 25655951
Phenotypes for gene: BCS1L were set to Mitochondrial complex III disorders; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 ATPAF2 Ellen McDonagh gene: ATPAF2 was added
gene: ATPAF2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATPAF2 were set to 25655951; 14757859; 21815885 (no variants identified)
Phenotypes for gene: ATPAF2 were set to Mitochondrial complex V disorders; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 ASPA Ellen McDonagh gene: ASPA was added
gene: ASPA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to 25655951
Phenotypes for gene: ASPA were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; 25655951
White matter disorders and cerebral calcification - narrow panel v0.11 ALDH3A2 Ellen McDonagh gene: ALDH3A2 was added
gene: ALDH3A2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 25655951
Phenotypes for gene: ALDH3A2 were set to Sjogren Larsson syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 ACP5 Ellen McDonagh gene: ACP5 was added
gene: ACP5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 21217752; 21217755; 26951490
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia; Spondyloenchondrodysplasia with immune dysregulation
White matter disorders and cerebral calcification - narrow panel v0.11 ACOX1 Ellen McDonagh gene: ACOX1 was added
gene: ACOX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX1 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_648; 17458872; 25655951; 11815777
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 ACBD5 Ellen McDonagh gene: ACBD5 was added
gene: ACBD5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 27799409, 27899449, 23105016
White matter disorders and cerebral calcification - narrow panel v0.11 AARS2 Ellen McDonagh gene: AARS2 was added
gene: AARS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 24808023; 27251004; 25655951; 25705216
Phenotypes for gene: AARS2 were set to Leukoencephalopathy with ovarian failure; General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 PEX5 Ellen McDonagh gene: PEX5 was added
gene: PEX5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 27290639; 26220973
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger)
White matter disorders and cerebral calcification - narrow panel v0.11 RRM2B Ellen McDonagh gene: RRM2B was added
gene: RRM2B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 25655951
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
White matter disorders and cerebral calcification - narrow panel v0.11 PEX2 Ellen McDonagh gene: PEX2 was added
gene: PEX2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX2 were set to 25655951
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger)
Inherited white matter disorders v1.56 Louise Daugherty Panel types changed to Rare Disease 100K
Lipodystrophy - childhood onset v0.3 ZMPSTE24 Sarah Leigh gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 18435794; 16297189; 20034068; 12913070; 15317753
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612
Lipodystrophy - childhood onset v0.3 PPARG Sarah Leigh gene: PPARG was added
gene: PPARG was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPARG were set to Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367
Lipodystrophy - childhood onset v0.3 POLD1 Sarah Leigh gene: POLD1 was added
gene: POLD1 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLD1 were set to 25131834; 26172944; 23770608
Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Lipodystrophy - childhood onset v0.3 PLIN1 Sarah Leigh gene: PLIN1 was added
gene: PLIN1 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLIN1 were set to 21345103; 25114292
Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877
Lipodystrophy - childhood onset v0.3 LMNA Sarah Leigh gene: LMNA was added
gene: LMNA was added to Lipodystrophy - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Lipodystrophy, familial partial, 2, 151660
Lipodystrophy - childhood onset v0.3 BSCL2 Sarah Leigh gene: BSCL2 was added
gene: BSCL2 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, 269700
Lipodystrophy - childhood onset v0.3 AGPAT2 Sarah Leigh gene: AGPAT2 was added
gene: AGPAT2 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, 608594
Lipodystrophy - childhood onset v0.3 CAVIN1 Sarah Leigh gene: CAVIN1 was added
gene: CAVIN1 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAVIN1 were set to 19726876
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327
Early onset or syndromic epilepsy v1.5 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Cystic kidney disease v1.33 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Malformations of cortical development v1.164 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Arthrogryposis v2.36 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Congenital hypothyroidism v1.9 THRA Ellen McDonagh Tag treatable tag was added to gene: THRA.
Congenital hypothyroidism v1.9 THRB Ellen McDonagh Tag treatable tag was added to gene: THRB.
Congenital hypothyroidism v1.9 THRB Ellen McDonagh commented on gene: THRB: To expand the scope of this panel, this gene was added and the version changed to 1.8. This gene and information originates from the Hyperthyroidism panel (Version 1.6, code 236). This addition was approved by the Genomics England Clinical Team.
Congenital hypothyroidism v1.9 SLC16A2 Ellen McDonagh Tag treatable tag was added to gene: SLC16A2.
Congenital hypothyroidism v1.9 SLC16A2 Ellen McDonagh commented on gene: SLC16A2: To expand the scope of this panel, this gene was added and the version changed to 1.8. This gene and information originates from the Hyperthyroidism panel (Version 1.6, code 236). This addition was approved by the Genomics England Clinical Team.
Congenital hypothyroidism v1.9 SECISBP2 Ellen McDonagh commented on gene: SECISBP2
Inherited white matter disorders v1.55 Louise Daugherty Panel types changed to Rare Disease 100K; Component Of Super Panel
Congenital hypothyroidism v1.8 THRB Ellen McDonagh gene: THRB was added
gene: THRB was added to Congenital hypothyroidism. Sources: Expert Review Green
Mode of inheritance for gene: THRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: THRB were set to 24847459
Phenotypes for gene: THRB were set to Resistance to thyroid hormone (RTH); THYROID HORMONE UNRESPONSIVENESS; 145650; REFETOFF SYNDROME; PRTH; Thyroid hormone resistance, autosomal recessive, 274300; Refetoff syndrome; THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; thyroid hormone unresponsiveness, generalized RTH, RTH beta; Thyroid hormone resistance, 188570; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; Thyroid Hormone Resistance (monoallelic); Thyroid hormone resistance, selective pituitary, 145650; HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; GRTH; Thyroid Hormone Resistance, Selective Pituitary; THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
Congenital hypothyroidism v1.8 SLC16A2 Ellen McDonagh gene: SLC16A2 was added
gene: SLC16A2 was added to Congenital hypothyroidism. Sources: Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to 24847459
Phenotypes for gene: SLC16A2 were set to MENTAL RETARDATION AND MUSCULAR ATROPHY; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; monocarboxylate transporter 8 (MCT8) deficiency; ALLAN-HERNDON SYNDROME; Monocarboxylate transporter 8 (MCT8) defect; Allan-Herndon-Dudley syndrome; AHDS; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Allan_Herndon_Dudley Syndrome; mental retardation, X-linked, with hypotonia; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan-Herndon-Dudley Syndrome; T3 RESISTANCE; TRIIODOTHYRONINE RESISTANCE; 300523; Allan-Herndon-Dudley syndrome, 300523; ALLAN-HERNDON-DUDLEY SYNDROME
Congenital hypothyroidism v1.8 SECISBP2 Ellen McDonagh gene: SECISBP2 was added
gene: SECISBP2 was added to Congenital hypothyroidism. Sources: Expert Review Green
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 24629861; 22986150; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 20501692; 19602558; 22247018; 16228000; 21084748
Phenotypes for gene: SECISBP2 were set to Short stature-delayed bone age due to thyroid hormone metabolism deficiency; Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Abnormal thyroid hormone metabolism; Thyroid hormone metabolism, abnormal, 609698; THYROID HORMONE METABOLISM, ABNORMAL
DDG2P v0.22 Louise Daugherty Panel types changed to GMS Rare Disease; Component Of Super Panel
Ataxia and cerebellar anomalies - narrow panel v0.4 Louise Daugherty Panel types changed to GMS Rare Disease; Component Of Super Panel
Inherited white matter disorders v1.54 ZFYVE26 Sarah Leigh Classified gene: ZFYVE26 as Red List (low evidence)
Inherited white matter disorders v1.54 ZFYVE26 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.54 ZFYVE26 Sarah Leigh Gene: zfyve26 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.53 VPS11 Sarah Leigh Classified gene: VPS11 as Red List (low evidence)
Inherited white matter disorders v1.53 VPS11 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.53 VPS11 Sarah Leigh Gene: vps11 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.52 UNC13D Sarah Leigh Classified gene: UNC13D as Red List (low evidence)
Inherited white matter disorders v1.52 UNC13D Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.52 UNC13D Sarah Leigh Gene: unc13d has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.51 TYROBP Sarah Leigh Classified gene: TYROBP as Red List (low evidence)
Inherited white matter disorders v1.51 TYROBP Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.51 TYROBP Sarah Leigh Gene: tyrobp has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.50 TMEM106B Sarah Leigh Classified gene: TMEM106B as Red List (low evidence)
Inherited white matter disorders v1.50 TMEM106B Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.50 TMEM106B Sarah Leigh Gene: tmem106b has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.49 SPG7 Sarah Leigh Classified gene: SPG7 as Red List (low evidence)
Inherited white matter disorders v1.49 SPG7 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.49 SPG7 Sarah Leigh Gene: spg7 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.48 SPG11 Sarah Leigh Classified gene: SPG11 as Red List (low evidence)
Inherited white matter disorders v1.48 SPG11 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.48 SPG11 Sarah Leigh Gene: spg11 has been classified as Red List (Low Evidence).
Congenital hypothyroidism v1.7 THRA Ellen McDonagh Publications for gene: THRA were set to 22168587; 23940126
Inherited white matter disorders v1.47 SPART Sarah Leigh Classified gene: SPART as Red List (low evidence)
Inherited white matter disorders v1.47 SPART Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.47 SPART Sarah Leigh Gene: spart has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.46 SLC13A5 Sarah Leigh Classified gene: SLC13A5 as Red List (low evidence)
Inherited white matter disorders v1.46 SLC13A5 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.46 SLC13A5 Sarah Leigh Gene: slc13a5 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.45 SDHA Sarah Leigh Classified gene: SDHA as Red List (low evidence)
Inherited white matter disorders v1.45 SDHA Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.45 SDHA Sarah Leigh Gene: sdha has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.44 RAB11B Sarah Leigh Classified gene: RAB11B as Red List (low evidence)
Inherited white matter disorders v1.44 RAB11B Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.44 RAB11B Sarah Leigh Gene: rab11b has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.43 PRF1 Sarah Leigh Classified gene: PRF1 as Red List (low evidence)
Inherited white matter disorders v1.43 PRF1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.43 PRF1 Sarah Leigh Gene: prf1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.42 PPT1 Sarah Leigh Classified gene: PPT1 as Red List (low evidence)
Inherited white matter disorders v1.42 PPT1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.42 PPT1 Sarah Leigh Gene: ppt1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.41 POLR1A Sarah Leigh Classified gene: POLR1A as Red List (low evidence)
Inherited white matter disorders v1.41 POLR1A Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.41 POLR1A Sarah Leigh Gene: polr1a has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.40 PHGDH Sarah Leigh Classified gene: PHGDH as Red List (low evidence)
Inherited white matter disorders v1.40 PHGDH Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.40 PHGDH Sarah Leigh Gene: phgdh has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.39 OCRL Sarah Leigh Classified gene: OCRL as Red List (low evidence)
Inherited white matter disorders v1.39 OCRL Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.39 OCRL Sarah Leigh Gene: ocrl has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.38 NDUFA2 Sarah Leigh Classified gene: NDUFA2 as Red List (low evidence)
Inherited white matter disorders v1.38 NDUFA2 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.38 NDUFA2 Sarah Leigh Gene: ndufa2 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.37 NAXE Sarah Leigh Classified gene: NAXE as Red List (low evidence)
Inherited white matter disorders v1.37 NAXE Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.37 NAXE Sarah Leigh Gene: naxe has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.36 HMBS Sarah Leigh Classified gene: HMBS as Red List (low evidence)
Inherited white matter disorders v1.36 HMBS Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.36 HMBS Sarah Leigh Gene: hmbs has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.35 HEXA Sarah Leigh Classified gene: HEXA as Red List (low evidence)
Inherited white matter disorders v1.35 HEXA Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.35 HEXA Sarah Leigh Gene: hexa has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.34 FA2H Sarah Leigh Classified gene: FA2H as Red List (low evidence)
Inherited white matter disorders v1.34 FA2H Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.34 FA2H Sarah Leigh Gene: fa2h has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.33 ERCC2 Sarah Leigh Classified gene: ERCC2 as Red List (low evidence)
Inherited white matter disorders v1.33 ERCC2 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.33 ERCC2 Sarah Leigh Gene: ercc2 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.32 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Red List (low evidence)
Inherited white matter disorders v1.32 CYP7B1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.32 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.31 COL4A1 Sarah Leigh Classified gene: COL4A1 as Red List (low evidence)
Inherited white matter disorders v1.31 COL4A1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.31 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.30 CNTNAP1 Sarah Leigh Classified gene: CNTNAP1 as Red List (low evidence)
Inherited white matter disorders v1.30 CNTNAP1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.30 CNTNAP1 Sarah Leigh Gene: cntnap1 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.29 BOLA3 Sarah Leigh Classified gene: BOLA3 as Red List (low evidence)
Inherited white matter disorders v1.29 BOLA3 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.29 BOLA3 Sarah Leigh Gene: bola3 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.28 BOLA3 Sarah Leigh Classified gene: BOLA3 as Red List (low evidence)
Inherited white matter disorders v1.28 BOLA3 Sarah Leigh Gene: bola3 has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.27 ATP7A Sarah Leigh Classified gene: ATP7A as Red List (low evidence)
Inherited white matter disorders v1.27 ATP7A Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.27 ATP7A Sarah Leigh Gene: atp7a has been classified as Red List (Low Evidence).
Inherited white matter disorders v1.26 ACBD5 Sarah Leigh Classified gene: ACBD5 as Red List (low evidence)
Inherited white matter disorders v1.26 ACBD5 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Inherited white matter disorders v1.26 ACBD5 Sarah Leigh Gene: acbd5 has been classified as Red List (Low Evidence).
Intellectual disability v2.587 FRRS1L Konstantinos Varvagiannis gene: FRRS1L was added
gene: FRRS1L was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRRS1L were set to 27236917; 27239025; 21147040; 29276473
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37 (MIM 616981)
Penetrance for gene: FRRS1L were set to Complete
Review for gene: FRRS1L was set to GREEN
gene: FRRS1L was marked as current diagnostic
Added comment: Biallelic pathogenic variants in FRRS1L cause Epileptic encephalopathy, early infantile, 37 (EIEE37 - MIM 616981).

Several individuals homozygous for LoF variants have been reported by Madeo et al. (PMID:27236917) and Shaheen et al. (PMID:27239025 - 2 individuals of this family previously published in 21147040). DD and choreoathetotic movement disorder may precede onset of seizures and subsequent regression. Intellectual disability was a universal feature.

Both articles and the respective phenotype are summarized in OMIM.

Extensive functional studies have been performed in the article by Madeo et al. as well as in PMID: 29276473 (Han et al.) and suggest a role in glutamatergic transmission.

FRRS1L is included in the DD panel of G2P, associated with Epileptic encephalopathy with continuous spike-and-wave during sleep.

This gene is included in gene panels for ID offered by several diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in the ID panel as green, if the phenotype of EIEE is thought to be relevant.
Sources: Literature, Radboud University Medical Center, Nijmegen
Likely inborn error of metabolism v0.19 TIMM50 Sarah Leigh Classified gene: TIMM50 as Amber List (moderate evidence)
Likely inborn error of metabolism v0.19 TIMM50 Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence.
Likely inborn error of metabolism v0.19 TIMM50 Sarah Leigh Gene: timm50 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v0.18 TIMM50 Sarah Leigh gene: TIMM50 was added
gene: TIMM50 was added to Inborn errors of metabolism. Sources: Expert Review,Literature
Mode of inheritance for gene: TIMM50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM50 were set to 27573165
Phenotypes for gene: TIMM50 were set to 3-methylglutaconic aciduria, type IX 617698
Review for gene: TIMM50 was set to AMBER
Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in 2 unrelated cases in peer reviewed literature. An additional biallelic variant has been reported in a case with intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria a meeting abstract.
(Three unrelated families reported with bi-allelic variants in this gene. Zornitza Stark (Australian Genomics), 1 Sep 2018)
Sources: Expert Review, Literature
Likely inborn error of metabolism v0.17 MRPS34 Sarah Leigh Classified gene: MRPS34 as Green List (high evidence)
Likely inborn error of metabolism v0.17 MRPS34 Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence.
Likely inborn error of metabolism v0.17 MRPS34 Sarah Leigh Gene: mrps34 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v0.16 MRPS34 Sarah Leigh gene: MRPS34 was added
gene: MRPS34 was added to Inborn errors of metabolism. Sources: Expert Review,Literature
Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS34 were set to 28777931
Phenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32 617664
Review for gene: MRPS34 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases.
(Six individuals from four unrelated families reported in the literature with bi-allelic variants in this gene. Zornitza Stark (Australian Genomics), 30 Aug 2018)
Sources: Expert Review, Literature
Likely inborn error of metabolism v0.15 FDXR Sarah Leigh Classified gene: FDXR as Green List (high evidence)
Likely inborn error of metabolism v0.15 FDXR Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence.
Likely inborn error of metabolism v0.15 FDXR Sarah Leigh Gene: fdxr has been classified as Green List (High Evidence).
Likely inborn error of metabolism v0.14 FDXR Sarah Leigh gene: FDXR was added
gene: FDXR was added to Inborn errors of metabolism. Sources: Expert Review,Literature
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 28965846
Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy 617717
Review for gene: FDXR was set to GREEN
Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Sources: Expert Review, Literature
Likely inborn error of metabolism v0.13 C1QBP Sarah Leigh Classified gene: C1QBP as Green List (high evidence)
Likely inborn error of metabolism v0.13 C1QBP Sarah Leigh Gene: c1qbp has been classified as Green List (High Evidence).
Likely inborn error of metabolism v0.12 C1QBP Sarah Leigh gene: C1QBP was added
gene: C1QBP was added to Inborn errors of metabolism. Sources: Literature,Expert Review
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33 617713
Review for gene: C1QBP was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases.
Sources: Literature, Expert Review
Intellectual disability v2.587 GTF3C3 Konstantinos Varvagiannis reviewed gene: GTF3C3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30552426, 28940097, 28097321; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.21 Ellen McDonagh Panel types changed to GMS Rare Disease
Ataxia and cerebellar anomalies - narrow panel v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease
Malformations of cortical development v1.163 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Arthrogryposis v2.35 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Early onset or syndromic epilepsy v1.4 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease
Cystic kidney disease v1.32 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease
Intellectual disability v2.587 TCF20 Konstantinos Varvagiannis edited their review of gene: TCF20: Added comment: One further individual investigated for mild ID and focal epilepsy was found to harbor a de novo frameshift variant [NM_005650.3:c.5430dup or p.(Ala1811Serfs*4)] in PMID: 30525188.; Changed publications: 27436265, 25228304, 28135719, 27479843, 28333917, 28554332, 30525188
White matter disorders and cerebral calcification - narrow panel v0.9 Louise Daugherty Panel types changed to GMS Rare Disease
Monogenic diabetes v0.4 HFE2 Sarah Leigh Tag new-gene-name tag was added to gene: HFE2.
Monogenic diabetes v0.4 HFE2 Sarah Leigh commented on gene: HFE2
Fetal anomalies v0.33 NOTCH1 Rebecca Foulger Classified gene: NOTCH1 as Green List (high evidence)
Fetal anomalies v0.33 NOTCH1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s), and Helen Brittain and Anna de Burca (Genomics England Clinical team) had noted that 'ADAMS OLIVER SYNDROME' is fetally-relevant. Sufficient cases to support causation, as reviewed on the Limb disorder panel.
Fetal anomalies v0.33 NOTCH1 Rebecca Foulger Gene: notch1 has been classified as Green List (High Evidence).
Fetal anomalies v0.32 TRIP4 Rebecca Foulger Classified gene: TRIP4 as Green List (high evidence)
Fetal anomalies v0.32 TRIP4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). Rated Green on 'Paediatric motor neuronopathies' panel based on sufficient cases, zebrafish model and Green review.
Fetal anomalies v0.32 TRIP4 Rebecca Foulger Gene: trip4 has been classified as Green List (High Evidence).
Fetal anomalies v0.31 TPM2 Rebecca Foulger Classified gene: TPM2 as Green List (high evidence)
Fetal anomalies v0.31 TPM2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ARTHROGRYPOSIS, DISTAL, TYPE 1 ) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). 2 unrelated cases listed in OMIM for ARTHROGRYPOSIS disorders- TPM2 is Green on the Arthrogryposis panel based on these cases plus two Green reviews. Therefore reasonable to promote to Green on this fetal panel based on ARTHROGRYPOSIS phenotype.
Fetal anomalies v0.31 TPM2 Rebecca Foulger Gene: tpm2 has been classified as Green List (High Evidence).
Fetal anomalies v0.30 TPM2 Rebecca Foulger Mode of pathogenicity for gene: TPM2 was changed from to Other
Fetal anomalies v0.29 TBX18 Rebecca Foulger Classified gene: TBX18 as Green List (high evidence)
Fetal anomalies v0.29 TBX18 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). Sufficient unrelated cases (3) listed in OMIM and summarised in the gene review on the CAKUT panel.
Fetal anomalies v0.29 TBX18 Rebecca Foulger Gene: tbx18 has been classified as Green List (High Evidence).
Fetal anomalies v0.28 RBPJ Rebecca Foulger Classified gene: RBPJ as Green List (high evidence)
Fetal anomalies v0.28 RBPJ Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS OLIVER SYNDROME) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). Although OMIM lists 2 unrelated cases, further cases supporting causation are provided in PMID:28160419, as detailed on the 'Limb disorders' panel.
Fetal anomalies v0.28 RBPJ Rebecca Foulger Gene: rbpj has been classified as Green List (High Evidence).
Fetal anomalies v0.27 RBPJ Rebecca Foulger Publications for gene: RBPJ were set to
Fetal anomalies v0.27 RBPJ Rebecca Foulger Mode of pathogenicity for gene: RBPJ was changed from to Other
Fetal anomalies v0.26 PIEZO1 Rebecca Foulger Classified gene: PIEZO1 as Green List (high evidence)
Fetal anomalies v0.26 PIEZO1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (hydrops) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.26 PIEZO1 Rebecca Foulger Gene: piezo1 has been classified as Green List (High Evidence).
Fetal anomalies v0.25 PIEZO1 Rebecca Foulger Added comment: Comment on mode of inheritance: 'BOTH monoallelic and biallelic' MOI is recorded for PIEZO1 on the 'Fetal hydrops' panel. Althought the DDG2P MOI is 'biallelic' for Congenital lymphatic dysplasia with hydrops and/or lymphoedema, the monoallelic MOI comes from the additional gene list compiled by PAGE.
Fetal anomalies v0.25 PIEZO1 Rebecca Foulger Mode of inheritance for gene: PIEZO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.24 PIEZO1 Rebecca Foulger commented on gene: PIEZO1: In original PAGE file, PIEZO1 is listed as biallelic for Congenital lymphatic dysplasia with hydrops and/or lymphoedema, and both monoallelic and biallelic for phenotypes in the additional gene file.
Fetal anomalies v0.24 LGI4 Rebecca Foulger Classified gene: LGI4 as Green List (high evidence)
Fetal anomalies v0.24 LGI4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ARTHROGRYPOSIS MULTIPLEX CONGENITA) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.24 LGI4 Rebecca Foulger Gene: lgi4 has been classified as Green List (High Evidence).
Fetal anomalies v0.23 KYNU Rebecca Foulger Classified gene: KYNU as Green List (high evidence)
Fetal anomalies v0.23 KYNU Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (MIM:617661) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). The literature evidence amounts to 2 unrelated patients with vertebral, cardiac, renal, and limb defects syndrome-2 (MIM:617661) and variants in HAAO (Shi et al. 2017, PMID:28792876) plus mouse model of embryonic defects from the same paper. However, the comment on the 'VACTERL-like phenotypes' and 'CAKUT' panels states "Confirmed with the clinical team that this gene has enough evidence to be green".
Fetal anomalies v0.23 KYNU Rebecca Foulger Gene: kynu has been classified as Green List (High Evidence).
Fetal anomalies v0.22 HAAO Rebecca Foulger Classified gene: HAAO as Green List (high evidence)
Fetal anomalies v0.22 HAAO Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (MIM:617660) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). The literature evidence amounts to 2 unrelated patients, each born of consanguineous parents, with vertebral, cardiac, renal, and limb defects syndrome-1 (MIM:617660) and homozygous truncating variants in HAAO (Shi et al. 2017, PMID:28792876). However, the comment on the 'VACTERL-like phenotypes', 'Undiagnosed metabolic disorders' and 'CAKUT' panels states "Confirmed with the clinical team that this gene has enough evidence to be green".
Fetal anomalies v0.22 HAAO Rebecca Foulger Gene: haao has been classified as Green List (High Evidence).
Fetal anomalies v0.21 GLDN Rebecca Foulger Classified gene: GLDN as Green List (high evidence)
Fetal anomalies v0.21 GLDN Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (Lethal arthroogryposis) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.21 GLDN Rebecca Foulger Gene: gldn has been classified as Green List (High Evidence).
Fetal anomalies v0.20 EPHB4 Rebecca Foulger Classified gene: EPHB4 as Green List (high evidence)
Fetal anomalies v0.20 EPHB4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (hydrops fetalis) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.20 EPHB4 Rebecca Foulger Gene: ephb4 has been classified as Green List (High Evidence).
Fetal anomalies v0.20 EPHB4 Rebecca Foulger Classified gene: EPHB4 as Green List (high evidence)
Fetal anomalies v0.20 EPHB4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (hydrops fetalis) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.20 EPHB4 Rebecca Foulger Gene: ephb4 has been classified as Green List (High Evidence).
Fetal anomalies v0.19 DOCK6 Rebecca Foulger Classified gene: DOCK6 as Green List (high evidence)
Fetal anomalies v0.19 DOCK6 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS-OLIVER SYNDROME 2) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.19 DOCK6 Rebecca Foulger Gene: dock6 has been classified as Green List (High Evidence).
Fetal anomalies v0.18 CNTNAP1 Rebecca Foulger Classified gene: CNTNAP1 as Green List (high evidence)
Fetal anomalies v0.18 CNTNAP1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (LETHAL CONGENITAL CONTRACTURE SYNDROME 7) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.18 CNTNAP1 Rebecca Foulger Gene: cntnap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.17 CHRNA1 Rebecca Foulger Classified gene: CHRNA1 as Green List (high evidence)
Fetal anomalies v0.17 CHRNA1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.17 CHRNA1 Rebecca Foulger Gene: chrna1 has been classified as Green List (High Evidence).
Fetal anomalies v0.16 CFC1 Rebecca Foulger Classified gene: CFC1 as Green List (high evidence)
Fetal anomalies v0.16 CFC1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.16 CFC1 Rebecca Foulger Gene: cfc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.15 ARHGAP31 Rebecca Foulger Deleted their comment
Fetal anomalies v0.15 ARHGAP31 Rebecca Foulger Classified gene: ARHGAP31 as Green List (high evidence)
Fetal anomalies v0.15 ARHGAP31 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS-OLIVER SYNDROME 1) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.15 ARHGAP31 Rebecca Foulger Gene: arhgap31 has been classified as Green List (High Evidence).
Fetal anomalies v0.14 ARHGAP31 Rebecca Foulger Classified gene: ARHGAP31 as Green List (high evidence)
Fetal anomalies v0.14 ARHGAP31 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS-OLIVER SYNDROME 1) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.14 ARHGAP31 Rebecca Foulger Gene: arhgap31 has been classified as Green List (High Evidence).
Fetal anomalies v0.13 ARCN1 Rebecca Foulger Classified gene: ARCN1 as Green List (high evidence)
Fetal anomalies v0.13 ARCN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (Microcephalic dwarfism) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.13 ARCN1 Rebecca Foulger Gene: arcn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.12 AKT3 Rebecca Foulger Classified gene: AKT3 as Green List (high evidence)
Fetal anomalies v0.12 AKT3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (HEMIMEGALENCEPHALY AKT3) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Fetal anomalies v0.12 AKT3 Rebecca Foulger Gene: akt3 has been classified as Green List (High Evidence).
Fetal anomalies v0.11 AKT3 Rebecca Foulger Mode of pathogenicity for gene: AKT3 was changed from to Other
Congenital muscular dystrophy v1.21 DMPK_CTG Louise Daugherty GRCh37 position for DMPK_CTG was changed from 46273460-46273522 to 46273463-46273522.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Mitochondrial disorders v1.85 DMPK_CTG Louise Daugherty GRCh37 position for DMPK_CTG was changed from 46273460-46273522 to 46273463-46273522.
GRCh38 position for DMPK_CTG was changed from 45770205-45770263 to 45770205-45770264.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v0.27 SLC2A1 Rebecca Foulger Phenotypes for gene: SLC2A1 were changed from GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 to GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; spastic paraplegia
Adult onset neurodegenerative disorder v0.26 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546
Adult onset neurodegenerative disorder v0.25 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as No list
Adult onset neurodegenerative disorder v0.25 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been removed from the panel.
Adult onset neurodegenerative disorder v0.24 RAB3GAP2 Rebecca Foulger gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: RAB3GAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB3GAP2 were set to 24482476
Phenotypes for gene: RAB3GAP2 were set to spastic paraplegia
Adult onset neurodegenerative disorder v0.23 LYST Rebecca Foulger Publications for gene: LYST were set to 23436631; 11857544; 9215680; 8896560; 9215679
Adult onset neurodegenerative disorder v0.22 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism to Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Marked gene: TIMM50 as ready
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in 2 unrelated cases in peer reviewed literature. An additional biallelic variant has been reported in a case with intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria a meeting abstract.
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Gene: timm50 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Tag watchlist tag was added to gene: TIMM50.
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Classified gene: TIMM50 as Amber List (moderate evidence)
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Gene: timm50 has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v0.21 KLC4 Rebecca Foulger Classified gene: KLC4 as No list
Adult onset neurodegenerative disorder v0.21 KLC4 Rebecca Foulger Gene: klc4 has been removed from the panel.
Adult onset neurodegenerative disorder v0.20 KLC4 Rebecca Foulger gene: KLC4 was added
gene: KLC4 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to spastic paraplegia
Adult onset neurodegenerative disorder v0.19 KDM5C Rebecca Foulger Classified gene: KDM5C as No list
Adult onset neurodegenerative disorder v0.19 KDM5C Rebecca Foulger Gene: kdm5c has been removed from the panel.
Adult onset neurodegenerative disorder v0.18 KDM5C Rebecca Foulger gene: KDM5C was added
gene: KDM5C was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: KDM5C 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: KDM5C were set to 10982473; 15586325; 26919706
Phenotypes for gene: KDM5C were set to Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
Adult onset neurodegenerative disorder v0.17 HACE1 Rebecca Foulger Classified gene: HACE1 as No list
Adult onset neurodegenerative disorder v0.17 HACE1 Rebecca Foulger Gene: hace1 has been removed from the panel.
Adult onset neurodegenerative disorder v0.16 HACE1 Rebecca Foulger gene: HACE1 was added
gene: HACE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26424145; 26437029
Phenotypes for gene: HACE1 were set to Spastic paraplegia; psychomotor retardation; seizure
Early onset or syndromic epilepsy v1.3 TIMM50 Sarah Leigh reviewed gene: TIMM50: Rating: ; Mode of pathogenicity: None; Publications: 27573165; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v0.15 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as No list
Adult onset neurodegenerative disorder v0.15 ERLIN1 Rebecca Foulger Gene: erlin1 has been removed from the panel.
Adult onset neurodegenerative disorder v0.14 ERLIN1 Rebecca Foulger gene: ERLIN1 was added
gene: ERLIN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN1 were set to 24482476
Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia
Adult onset neurodegenerative disorder v0.13 DARS Rebecca Foulger Classified gene: DARS as No list
Adult onset neurodegenerative disorder v0.13 DARS Rebecca Foulger Gene: dars has been removed from the panel.
Adult onset neurodegenerative disorder v0.12 DARS Rebecca Foulger gene: DARS was added
gene: DARS was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 23643384; 25527264
Phenotypes for gene: DARS were set to Brain stem and spinal cord Hypomyelination; leg spasticity
Adult onset neurodegenerative disorder v0.11 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from Dystonia to Dystonia; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Adult onset neurodegenerative disorder v0.10 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to
Adult onset neurodegenerative disorder v0.9 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis
Adult onset neurodegenerative disorder v0.8 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to
Adult onset neurodegenerative disorder v0.7 ARG1 Rebecca Foulger Classified gene: ARG1 as No list
Adult onset neurodegenerative disorder v0.7 ARG1 Rebecca Foulger Gene: arg1 has been removed from the panel.
Adult onset neurodegenerative disorder v0.6 ARG1 Rebecca Foulger gene: ARG1 was added
gene: ARG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 26310552; 23859858
Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.5 ABCD1 Rebecca Foulger Classified gene: ABCD1 as No list
Adult onset neurodegenerative disorder v0.5 ABCD1 Rebecca Foulger Gene: abcd1 has been removed from the panel.
Adult onset neurodegenerative disorder v0.4 ABCD1 Rebecca Foulger gene: ABCD1 was added
gene: ABCD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ABCD1 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: ABCD1 were set to 11810273; 27084228; 11739809; 26049658
Phenotypes for gene: ABCD1 were set to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation
Mitochondrial disorders v1.83 TIMM50 Sarah Leigh Phenotypes for gene: TIMM50 were changed from 3-methylglutaconic aciduria, type IX, MIM#617698 to 3-methylglutaconic aciduria, type IX 617698
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger Tag founder-effect tag was added to gene: VAMP1.
Adult onset neurodegenerative disorder v0.2 TBP Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: TBP.
Tag currently-ngs-unreportable tag was added to gene: TBP.
Adult onset neurodegenerative disorder v0.2 PPP2R2B Rebecca Foulger Tag watchlist tag was added to gene: PPP2R2B.
Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B.
Tag currently-ngs-unreportable tag was added to gene: PPP2R2B.
Adult onset neurodegenerative disorder v0.2 PCDH12 Rebecca Foulger Tag founder-effect tag was added to gene: PCDH12.
Adult onset neurodegenerative disorder v0.2 NOP56 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: NOP56.
Tag currently-ngs-unreportable tag was added to gene: NOP56.
Adult onset neurodegenerative disorder v0.2 JPH3 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: JPH3.
Tag currently-ngs-unreportable tag was added to gene: JPH3.
Adult onset neurodegenerative disorder v0.2 HTT Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: HTT.
Tag currently-ngs-unreportable tag was added to gene: HTT.
Adult onset neurodegenerative disorder v0.2 DSTYK Rebecca Foulger Tag founder-effect tag was added to gene: DSTYK.
Adult onset neurodegenerative disorder v0.2 DAB1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: DAB1.
Tag founder-effect tag was added to gene: DAB1.
Tag currently-ngs-unreportable tag was added to gene: DAB1.
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger Tag currently-ngs-unreportable tag was added to gene: C9orf72.
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: C9orf72.
Adult onset neurodegenerative disorder v0.2 BEAN1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: BEAN1.
Tag currently-ngs-unreportable tag was added to gene: BEAN1.
Tag structural-variant tag was added to gene: BEAN1.
Adult onset neurodegenerative disorder v0.2 ATXN8 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN8.
Tag currently-ngs-unreportable tag was added to gene: ATXN8.
Adult onset neurodegenerative disorder v0.2 ATXN7 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN7.
Tag currently-ngs-unreportable tag was added to gene: ATXN7.
Adult onset neurodegenerative disorder v0.2 ATXN3 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN3.
Tag currently-ngs-unreportable tag was added to gene: ATXN3.
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN2.
Adult onset neurodegenerative disorder v0.2 ATXN10 Rebecca Foulger Tag watchlist tag was added to gene: ATXN10.
Tag nucleotide-repeat-expansion tag was added to gene: ATXN10.
Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Adult onset neurodegenerative disorder v0.2 ATXN1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN1.
Tag currently-ngs-unreportable tag was added to gene: ATXN1.
Adult onset neurodegenerative disorder v0.2 ATP6AP2 Rebecca Foulger Tag watchlist tag was added to gene: ATP6AP2.
Adult onset neurodegenerative disorder v0.2 ATN1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATN1.
Adult onset neurodegenerative disorder v0.2 ATN1 Rebecca Foulger Tag currently-ngs-unreportable tag was added to gene: ATN1.
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger Tag watchlist tag was added to gene: VAMP1.
Adult onset neurodegenerative disorder v0.2 TAF1 Rebecca Foulger Tag sva tag was added to gene: TAF1.
Adult onset neurodegenerative disorder v0.2 MAG Rebecca Foulger Tag watchlist tag was added to gene: MAG.
Adult onset neurodegenerative disorder v0.2 GNAL Rebecca Foulger Tag watchlist tag was added to gene: GNAL.
Adult onset neurodegenerative disorder v0.2 VPS35 Rebecca Foulger Tag missense tag was added to gene: VPS35.
Adult onset neurodegenerative disorder v0.2 TH Rebecca Foulger Tag treatable tag was added to gene: TH.
Adult onset neurodegenerative disorder v0.2 TARDBP Rebecca Foulger Tag polygenic tag was added to gene: TARDBP.
Adult onset neurodegenerative disorder v0.2 SPR Rebecca Foulger Tag treatable tag was added to gene: SPR.
Adult onset neurodegenerative disorder v0.2 SNCA Rebecca Foulger Tag gene-duplication tag was added to gene: SNCA.
Adult onset neurodegenerative disorder v0.2 SLC52A2 Rebecca Foulger Tag treatable tag was added to gene: SLC52A2.
Adult onset neurodegenerative disorder v0.2 SLC30A10 Rebecca Foulger Tag treatable tag was added to gene: SLC30A10.
Adult onset neurodegenerative disorder v0.2 SAR1B Rebecca Foulger Tag treatable tag was added to gene: SAR1B.
Adult onset neurodegenerative disorder v0.2 PRRT2 Rebecca Foulger Tag treatable tag was added to gene: PRRT2.
Adult onset neurodegenerative disorder v0.2 MARS2 Rebecca Foulger Tag cnv tag was added to gene: MARS2.
Tag gene-duplication tag was added to gene: MARS2.
Adult onset neurodegenerative disorder v0.2 MAPT Rebecca Foulger Tag treatable tag was added to gene: MAPT.
Adult onset neurodegenerative disorder v0.2 LRRK2 Rebecca Foulger Tag missense tag was added to gene: LRRK2.
Tag curated-variant-list tag was added to gene: LRRK2.
Adult onset neurodegenerative disorder v0.2 KMT2B Rebecca Foulger Tag treatable tag was added to gene: KMT2B.
Adult onset neurodegenerative disorder v0.2 KIF1A Rebecca Foulger Tag watchlist tag was added to gene: KIF1A.
Adult onset neurodegenerative disorder v0.2 KCNA1 Rebecca Foulger Tag treatable tag was added to gene: KCNA1.
Adult onset neurodegenerative disorder v0.2 GNAO1 Rebecca Foulger Tag mosaicism tag was added to gene: GNAO1.
Adult onset neurodegenerative disorder v0.2 GBA Rebecca Foulger Tag treatable tag was added to gene: GBA.
Adult onset neurodegenerative disorder v0.2 FXN Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Adult onset neurodegenerative disorder v0.2 FMR1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: FMR1.
Adult onset neurodegenerative disorder v0.2 CSF1R Rebecca Foulger Tag adult-onset tag was added to gene: CSF1R.
Adult onset neurodegenerative disorder v0.2 CACNB4 Rebecca Foulger Tag treatable tag was added to gene: CACNB4.
Adult onset neurodegenerative disorder v0.2 CACNA1A Rebecca Foulger Tag treatable tag was added to gene: CACNA1A.
Adult onset neurodegenerative disorder v0.2 CACNA1A Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: CACNA1A.
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Marked gene: MRPS34 as ready
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases.
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Gene: mrps34 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Classified gene: MRPS34 as Green List (high evidence)
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Gene: mrps34 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.2 ATP7B Rebecca Foulger Tag treatable tag was added to gene: ATP7B.
Intellectual disability v2.587 DONSON Konstantinos Varvagiannis gene: DONSON was added
gene: DONSON was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DONSON were set to 28630177; 28191891
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities (MIM 617604); Microcephaly-micromelia syndrome (MIM 251230)
Penetrance for gene: DONSON were set to unknown
Review for gene: DONSON was set to AMBER
gene: DONSON was marked as current diagnostic
Added comment: It seems that the phenotypes related to DONSON biallelic mutations (PMIDs: 28630177, 28191891) can be extremely variable with pre-/perinatally lethal cases to variable degrees of microcephaly (-2.4 to -10.7 SD), short stature (several individuals with height within the normal percentiles), limb anomalies (many without such anomalies, or at least significant). Similarly, DD and more specifically ID has been observed in some patients (when it happened to be the case it was most commonly mild).

This is most evident in the supplementary information of PMID: 28191891, specifically the following table:
https://media.nature.com/original/nature-assets/ng/journal/v49/n4/extref/ng.3790-S2.xlsx

Clinical synopses for the DONSON-related phenotypes:
https://www.omim.org/clinicalSynopsis/table?mimNumber=617604,251230

The gene is not associated with any phenotype in G2P.

DONSON is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).

As a result, gene could be considered for inclusion in the ID panel probably as amber (or green) following further review and/or if the phenotype is though to be relevant.

[Consider also inclusion in other relevant panels apart from microcephaly, eg. limb disorders etc.]
Sources: Literature, Radboud University Medical Center, Nijmegen
Monogenic diabetes v0.2 NSMCE2 Ellen McDonagh gene: NSMCE2 was added
gene: NSMCE2 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364
Phenotypes for gene: NSMCE2 were set to Dwarfism with extreme insulin resistance and acanthosis nigricans
Monogenic diabetes v0.2 FOXP3 Ellen McDonagh Added phenotypes {Diabetes mellitus, type I, susceptibility to}, 222100; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; IPEX syndrome for gene: FOXP3
Monogenic diabetes v0.2 FOXP3 Ellen McDonagh gene: FOXP3 was added
gene: FOXP3 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic diabetes v0.2 STAT3 Ellen McDonagh Added phenotypes Neonatal diabetes and additional multi-organ autoimmunity for gene: STAT3
Publications for gene STAT3 were changed from 27167055 to 27167055; Flanagan et al 2014 Nature Genetics (In press)
Monogenic diabetes v0.2 STAT3 Ellen McDonagh gene: STAT3 was added
gene: STAT3 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 27167055
Mode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic diabetes v0.2 SLC40A1 Ellen McDonagh gene: SLC40A1 was added
gene: SLC40A1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069
Monogenic diabetes v0.2 POLD1 Ellen McDonagh Added phenotypes multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome for gene: POLD1
Publications for gene POLD1 were changed from 25131834; 26172944; 23770608 to 23770608
Monogenic diabetes v0.2 POLD1 Ellen McDonagh Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 for gene: POLD1
Publications for gene POLD1 were changed from 23770608 to 25131834; 26172944; 23770608
Monogenic diabetes v0.2 POLD1 Ellen McDonagh gene: POLD1 was added
gene: POLD1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLD1 were set to 23770608
Phenotypes for gene: POLD1 were set to multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Mode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic diabetes v0.2 PLIN1 Ellen McDonagh Added phenotypes partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes for gene: PLIN1
Monogenic diabetes v0.2 PLIN1 Ellen McDonagh Added phenotypes partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes for gene: PLIN1
Publications for gene PLIN1 were changed from 21345103; 25114292 to 21345103
Monogenic diabetes v0.2 PLIN1 Ellen McDonagh gene: PLIN1 was added
gene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLIN1 were set to 21345103; 25114292
Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877
Monogenic diabetes v0.2 PIK3R1 Ellen McDonagh Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1
Monogenic diabetes v0.2 PIK3R1 Ellen McDonagh Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1
Publications for gene PIK3R1 were changed from 23810379; 23810382; 23810378 to 23810378
Monogenic diabetes v0.2 LMNA Ellen McDonagh Added phenotypes FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules for gene: LMNA
Publications for gene LMNA were changed from to 26775134; 24002959
Monogenic diabetes v0.2 LMNA Ellen McDonagh gene: LMNA was added
gene: LMNA was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Lipodystrophy, familial partial, 2, 151660
Monogenic diabetes v0.2 KCNJ11 Ellen McDonagh Added phenotypes Transient Neonatal diabetes mellitus (Dominant); Transient Neonatal, 3; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Maturity Onset Diabetes of the Young; Hyperinsulinemic hypoglycemia, familial, 2, 601820; {Diabetes mellitus, type 2, susceptibility to}, 125853; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes mellitus, transient neonatal, 3, 610582 for gene: KCNJ11
Monogenic diabetes v0.2 KCNJ11 Ellen McDonagh gene: KCNJ11 was added
gene: KCNJ11 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young
Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic diabetes v0.2 HNF4A Ellen McDonagh Added phenotypes MODY, type I, 125850; OMIM 616026; Maturity Onset Diabetes of the Young for gene: HNF4A
Monogenic diabetes v0.2 HNF4A Ellen McDonagh gene: HNF4A was added
gene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF4A were set to {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1; Maturity-onset diabetes of the young (MODY); MODY, type I, 125850; #616026; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 HNF1B Ellen McDonagh Added phenotypes Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME for gene: HNF1B
Monogenic diabetes v0.2 HNF1B Ellen McDonagh gene: HNF1B was added
gene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, 137920
Monogenic diabetes v0.2 HNF1A Ellen McDonagh Added phenotypes Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; Diabetes mellitus, insulin-dependent, 20, 612520; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; Maturity-onset diabetes of the young (MODY); {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; Maturity Onset Diabetes of the Young for gene: HNF1A
Monogenic diabetes v0.2 HNF1A Ellen McDonagh gene: HNF1A was added
gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 PPARG Ellen McDonagh Added phenotypes Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Lipodystrophy, familial partial, type 3 for gene: PPARG
Monogenic diabetes v0.2 PPARG Ellen McDonagh Added phenotypes Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367 for gene: PPARG
Monogenic diabetes v0.2 PPARG Ellen McDonagh gene: PPARG was added
gene: PPARG was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; Obesity, severe, 601665; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; [Obesity, resistance to]; Carotid intimal medial thickness 1, 609338
Monogenic diabetes v0.2 GATA6 Ellen McDonagh Added phenotypes Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS for gene: GATA6
Publications for gene GATA6 were changed from 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; PMID: 27098067; 22158542; 26210631; 22962692; 25708516; 25356219 to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; 22158542; 26210631; 22962692; 27098067; 25708516; Lango Allen et al 2011 Nat Genet 44, 20-22 De Franco et al 2013 Diabetes 62, 993-997; 25356219
Monogenic diabetes v0.2 GATA6 Ellen McDonagh gene: GATA6 was added
gene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 22806356; 25706805; 23635550; 24433315; 24310933; 23639568; PMID: 27098067; 22158542; 26210631; 22962692; 25708516; 25356219
Monogenic diabetes v0.2 GATA4 Ellen McDonagh Added phenotypes Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects for gene: GATA4
Publications for gene GATA4 were changed from PMID: 24696446 to 24696446
Monogenic diabetes v0.2 GATA4 Ellen McDonagh gene: GATA4 was added
gene: GATA4 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA4 were set to PMID: 24696446
Monogenic diabetes v0.2 MT-TL1 Ellen McDonagh Added phenotypes MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome for gene: MT-TL1
Monogenic diabetes v0.2 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to MELAS syndrome
Monogenic diabetes v0.2 WFS1 Ellen McDonagh Added phenotypes diabetes insipidus or optic atrophy; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400 for gene: WFS1
Monogenic diabetes v0.2 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27217304; 27185633
Phenotypes for gene: WFS1 were set to Wolfram syndrome, 222300
Monogenic diabetes v0.2 NEUROD1 Ellen McDonagh Added phenotypes {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young for gene: NEUROD1
Monogenic diabetes v0.2 NEUROD1 Ellen McDonagh gene: NEUROD1 was added
gene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 26773576; 10545951; 26669242; 20573748
Phenotypes for gene: NEUROD1 were set to Maturity-onset diabetes of the young 6, 606394; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MODY6; Permanent neonatal diabetes and cerebellar agenesis; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 INSR Ellen McDonagh Added phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Leprechaunism, 246200; Rabson-Mendenhall syndrome, 262190 for gene: INSR
Monogenic diabetes v0.2 INSR Ellen McDonagh Added phenotypes Diabetes mellitus, insulin-resistant, with acanthosis nigricans; OMIM 610549 for gene: INSR
Publications for gene INSR were changed from 8288049 to PMID: 8288049
Monogenic diabetes v0.2 INSR Ellen McDonagh gene: INSR was added
gene: INSR was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSR were set to 8288049
Phenotypes for gene: INSR were set to Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; OMIM 610549; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
Monogenic diabetes v0.2 INS Ellen McDonagh Added phenotypes Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young for gene: INS
Monogenic diabetes v0.2 INS Ellen McDonagh gene: INS was added
gene: INS was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, insulin-dependent, 2, 125852; Permanent Neonatal diabetes mellitus; Diabetes mellitus, type 1, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 ABCC8 Ellen McDonagh Added phenotypes Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; transient neonatal diabetes (Dominant); Diabetes mellitus, noninsulin-dependent, 125853; DIABETES MELLITUS, NONINSULIN-DEPENDENT; Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent neonatal diabetes mellitus; Permanent Neonatal Diabetes Mellitus for gene: ABCC8
Monogenic diabetes v0.2 ABCC8 Ellen McDonagh gene: ABCC8 was added
gene: ABCC8 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; Permanent Neonatal Diabetes Mellitus; Permanent Neonatal Diabetes Mellitus (recessive)
Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic diabetes v0.2 GCK Ellen McDonagh Added phenotypes Transient Neonatal Diabetes, Recessive; MODY2; Maturity-Onset Diabetes Of The Young; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Maturity-onset diabetes of the young (MODY); Permanent neonatal diabetes; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, gestational, 125851; MODY, type II, 125851; Maturity Onset Diabetes of the Young for gene: GCK
Monogenic diabetes v0.2 GCK Ellen McDonagh gene: GCK was added
gene: GCK was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: GCK were set to Transient Neonatal Diabetes, Recessive; Permanent Neonatal Diabetes Mellitus (recessive); Maturity-onset diabetes of the young (MODY); Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 ZMPSTE24 Ellen McDonagh gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 18435794; 16297189; 20034068; 12913070; 15317753
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612
Monogenic diabetes v0.2 ZFP57 Ellen McDonagh Added phenotypes Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57
Monogenic diabetes v0.2 ZFP57 Ellen McDonagh gene: ZFP57 was added
gene: ZFP57 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes
Monogenic diabetes v0.2 TRMT10A Ellen McDonagh Added phenotypes failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability for gene: TRMT10A
Monogenic diabetes v0.2 TRMT10A Ellen McDonagh gene: TRMT10A was added
gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT10A were set to 26297882; 24204302
Phenotypes for gene: TRMT10A were set to failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability
Monogenic diabetes v0.2 TFR2 Ellen McDonagh gene: TFR2 was added
gene: TFR2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250
Monogenic diabetes v0.2 SLC2A2 Ellen McDonagh Added phenotypes {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome for gene: SLC2A2
Publications for gene SLC2A2 were changed from 22831748; 23456528; 22660720 to 22831748; PMID: 23456528; 22660720
Monogenic diabetes v0.2 SLC2A2 Ellen McDonagh gene: SLC2A2 was added
gene: SLC2A2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 22831748; 23456528; 22660720
Phenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome; Fanconi-Bickel syndrome, 227810
Monogenic diabetes v0.2 SLC29A3 Ellen McDonagh Added phenotypes Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome for gene: SLC29A3
Monogenic diabetes v0.2 SLC29A3 Ellen McDonagh gene: SLC29A3 was added
gene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 19336477
Phenotypes for gene: SLC29A3 were set to Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
Monogenic diabetes v0.2 SLC19A2 Ellen McDonagh Added phenotypes Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME for gene: SLC19A2
Publications for gene SLC19A2 were changed from Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656 to 26549656; 26839896
Monogenic diabetes v0.2 SLC19A2 Ellen McDonagh gene: SLC19A2 was added
gene: SLC19A2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Monogenic diabetes v0.2 RFX6 Ellen McDonagh Added phenotypes Mitchell-Riley syndrome for gene: RFX6
Publications for gene RFX6 were changed from Spiegal et al 2011 AM J Med Genet 155:2821-2825; 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; Smith et al 2010 Nature 463:775-780; 27167055 to 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; 27167055
Monogenic diabetes v0.2 RFX6 Ellen McDonagh gene: RFX6 was added
gene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFX6 were set to Spiegal et al 2011 AM J Med Genet 155:2821-2825; 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; Smith et al 2010 Nature 463:775-780; 27167055
Phenotypes for gene: RFX6 were set to Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome
Monogenic diabetes v0.2 PTF1A Ellen McDonagh Added phenotypes Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 for gene: PTF1A
Monogenic diabetes v0.2 PTF1A Ellen McDonagh gene: PTF1A was added
gene: PTF1A was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to Permanent neonatal diabetes mellitus (PNDM); Permanent neonatal diabetes with cerebellar agenesis; Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
Monogenic diabetes v0.2 PDX1 Ellen McDonagh Added phenotypes Pancreatic agenesis 1 for gene: PDX1
Monogenic diabetes v0.2 NKX2-2 Ellen McDonagh gene: NKX2-2 was added
gene: NKX2-2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943
Monogenic diabetes v0.2 NEUROG3 Ellen McDonagh Added phenotypes Permanent neonatal diabetes and enteric anendocrinosis for gene: NEUROG3
Publications for gene NEUROG3 were changed from 26288179; 25650326 to 26288179; 25650326; Rubio-Cabezas et al 2011 Diabetes 60:1349-1353
Monogenic diabetes v0.2 NEUROG3 Ellen McDonagh gene: NEUROG3 was added
gene: NEUROG3 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 26288179; 25650326
Monogenic diabetes v0.2 MNX1 Ellen McDonagh Publications for gene MNX1 were changed from 24411943; Flanagan et al 2014 Cell Metab 19:146-154; 23562494; 26534984 to 24411943; 23562494; 26534984
Monogenic diabetes v0.2 MNX1 Ellen McDonagh gene: MNX1 was added
gene: MNX1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNX1 were set to 24411943; Flanagan et al 2014 Cell Metab 19:146-154; 23562494; 26534984
Monogenic diabetes v0.2 LRBA Ellen McDonagh Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity for gene: LRBA
Monogenic diabetes v0.2 LRBA Ellen McDonagh gene: LRBA was added
gene: LRBA was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 25468195; 25479458; 26745254; 26206937; 27057999
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity
Monogenic diabetes v0.2 IER3IP1 Ellen McDonagh Added phenotypes Microcephaly, epilepsy, and diabetes syndrome for gene: IER3IP1
Publications for gene IER3IP1 were changed from 21835305, 22991235, 24138066 to 21835305; 24138066; 22991235
Monogenic diabetes v0.2 HFE2 Ellen McDonagh gene: HFE2 was added
gene: HFE2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390
Monogenic diabetes v0.2 HFE Ellen McDonagh gene: HFE was added
gene: HFE was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to {Alzheimer disease, susceptibility to}, 104300; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria variegata, susceptibility to}, 176200; {Porphyria cutanea tarda, susceptibility to}, 176100
Monogenic diabetes v0.2 HAMP Ellen McDonagh gene: HAMP was added
gene: HAMP was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313
Monogenic diabetes v0.2 GLIS3 Ellen McDonagh Added phenotypes Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Neonatal Diabetes mellitus with congenital hypothyroidism; Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3 for gene: GLIS3
Monogenic diabetes v0.2 GLIS3 Ellen McDonagh gene: GLIS3 was added
gene: GLIS3 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
Monogenic diabetes v0.2 EIF2AK3 Ellen McDonagh Added phenotypes Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus for gene: EIF2AK3
Monogenic diabetes v0.2 EIF2AK3 Ellen McDonagh gene: EIF2AK3 was added
gene: EIF2AK3 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
Monogenic diabetes v0.2 CISD2 Ellen McDonagh gene: CISD2 was added
gene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 17846994; 25056293
Phenotypes for gene: CISD2 were set to 604928; Wolfram syndrome 2
Monogenic diabetes v0.2 CAVIN1 Ellen McDonagh gene: CAVIN1 was added
gene: CAVIN1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAVIN1 were set to 19726876
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327
Monogenic diabetes v0.2 BSCL2 Ellen McDonagh Added phenotypes Lipodystrophy, congenital generalized, type 2, 269700 for gene: BSCL2
Monogenic diabetes v0.2 BSCL2 Ellen McDonagh Added phenotypes Berardinelli-Seip congenital lipodystrophy for gene: BSCL2
Monogenic diabetes v0.2 BSCL2 Ellen McDonagh gene: BSCL2 was added
gene: BSCL2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSCL2 were set to 11479539
Phenotypes for gene: BSCL2 were set to Berardinelli-Seip congenital lipodystrophy
Monogenic diabetes v0.2 ALMS1 Ellen McDonagh Added phenotypes Alstrom syndrome for gene: ALMS1
Monogenic diabetes v0.2 AGPAT2 Ellen McDonagh Publications for gene AGPAT2 were changed from 11967537; 12765973 to PubMed PMID: 11967537, PubMed PMID: 12765973.
Monogenic diabetes v0.2 AGPAT2 Ellen McDonagh Added phenotypes lipodystrophy for gene: AGPAT2
Publications for gene AGPAT2 were changed from to 11967537; 12765973
Monogenic diabetes v0.2 AGPAT2 Ellen McDonagh gene: AGPAT2 was added
gene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, 608594
Monogenic diabetes v0.2 LIPC Ellen McDonagh gene: LIPC was added
gene: LIPC was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: LIPC was set to Unknown
Phenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12], 612797; {Diabetes mellitus, noninsulin-dependent}, 125853
Monogenic diabetes v0.2 FOXC2 Ellen McDonagh gene: FOXC2 was added
gene: FOXC2 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: FOXC2 was set to Unknown
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400; Lymphedema-distichiasis syndrome, 153400
Monogenic diabetes v0.2 ENPP1 Ellen McDonagh gene: ENPP1 was added
gene: ENPP1 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: ENPP1 was set to Unknown
Phenotypes for gene: ENPP1 were set to Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos
Monogenic diabetes v0.2 ZBTB20 Ellen McDonagh Mode of inheritance for gene ZBTB20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene ZBTB20 were changed from to 25017102; 20644156
Monogenic diabetes v0.2 STAT1 Ellen McDonagh gene: STAT1 was added
gene: STAT1 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT1 were set to 23534974
Mode of pathogenicity for gene: STAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic diabetes v0.2 FGFR3 Ellen McDonagh gene: FGFR3 was added
gene: FGFR3 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Hypochondroplasia, 146000; Crouzon syndrome with acanthosis nigricans, 612247
Monogenic diabetes v0.2 CEL Ellen McDonagh Added phenotypes Maturity-onset diabetes of the young, type VIII, 609812 for gene: CEL
Publications for gene CEL were changed from PMID: 16369531 to 16369531
Monogenic diabetes v0.2 CEL Ellen McDonagh gene: CEL was added
gene: CEL was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEL were set to PMID: 16369531
Phenotypes for gene: CEL were set to Maturity-onset diabetes of the young, type VIII, 609812
Monogenic diabetes v0.2 ZBTB20 Ellen McDonagh gene: ZBTB20 was added
gene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB20 were set to Primrose syndrome
Monogenic diabetes v0.2 PAX4 Ellen McDonagh Added phenotypes Maturity-onset diabetes of the young, type IX, 612225; Diabetes mellitus, ketosis-prone, 612227; Diabetes mellitus, type 2, 125853; Maturity Onset Diabetes of the Young for gene: PAX4
Monogenic diabetes v0.2 PAX4 Ellen McDonagh gene: PAX4 was added
gene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX4 were set to Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 KLF11 Ellen McDonagh Added phenotypes Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young for gene: KLF11
Monogenic diabetes v0.2 KLF11 Ellen McDonagh gene: KLF11 was added
gene: KLF11 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: KLF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLF11 were set to Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 BLK Ellen McDonagh Added phenotypes Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young for gene: BLK
Monogenic diabetes v0.2 BLK Ellen McDonagh gene: BLK was added
gene: BLK was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BLK were set to Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young
Monogenic diabetes v0.2 PSMB8 Ellen McDonagh gene: PSMB8 was added
gene: PSMB8 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040
Monogenic diabetes v0.2 IL2RA Ellen McDonagh gene: IL2RA was added
gene: IL2RA was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RA were set to 17196245
Monogenic diabetes v0.2 IER3IP1 Ellen McDonagh gene: IER3IP1 was added
gene: IER3IP1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 21835305, 22991235, 24138066
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; Microcephaly, epilepsy and diabetes syndrome
Monogenic diabetes v0.2 DCAF17 Ellen McDonagh gene: DCAF17 was added
gene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 20507343; 19026396
Monogenic diabetes v0.2 AGPS Ellen McDonagh gene: AGPS was added
gene: AGPS was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Lipodystrophy, congenital generalized, type 1, 608594
Monogenic diabetes v0.2 DMXL2 Ellen McDonagh gene: DMXL2 was added
gene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber
Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098
Phenotypes for gene: DMXL2 were set to ORPHA90636; OMIM:612186; Sensorineural Hearing Loss
Monogenic diabetes v0.2 ISCA-37432-Loss Ellen McDonagh Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to 614527; utero-vaginal atresia; RCAD syndrome; Schizophrenia; Chromosome 17q12 deletion syndrome; delayed development, intellectual disability; global developmental delay; Autism Spectrum Disorder; Renal cysts and diabetes syndrome; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
Monogenic diabetes v0.2 PDX1 Ellen McDonagh gene: PDX1 was added
gene: PDX1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV
Monogenic diabetes v0.2 PIK3R1 Ellen McDonagh gene: PIK3R1 was added
gene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to 23810379; 23810382; 23810378
Phenotypes for gene: PIK3R1 were set to SHORT syndrome
Mode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments
Monogenic diabetes v0.2 WRN Ellen McDonagh gene: WRN was added
gene: WRN was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRN were set to 8602509
Phenotypes for gene: WRN were set to Werner syndrome
Monogenic diabetes v0.2 PCYT1A Ellen McDonagh gene: PCYT1A was added
gene: PCYT1A was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT1A were set to 24889630
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy
Monogenic diabetes v0.2 PCNT Ellen McDonagh gene: PCNT was added
gene: PCNT was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 21270239
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II
Monogenic diabetes v0.2 BLM Ellen McDonagh gene: BLM was added
gene: BLM was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome
Monogenic diabetes v0.2 ALMS1 Ellen McDonagh gene: ALMS1 was added
gene: ALMS1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Monogenic diabetes v0.2 PCBD1 Ellen McDonagh gene: PCBD1 was added
gene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Amber
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 24204001; 24848070
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D
Monogenic diabetes v0.2 CAV1 Ellen McDonagh gene: CAV1 was added
gene: CAV1 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CAV1 was set to Unknown
Publications for gene: CAV1 were set to 18211975
Phenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Monogenic diabetes v0.2 PPP1R3A Ellen McDonagh gene: PPP1R3A was added
gene: PPP1R3A was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: PPP1R3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP1R3A were set to Insulin resistance, severe, digenic
Monogenic diabetes v0.2 AKT2 Ellen McDonagh gene: AKT2 was added
gene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 17576055; 17327441; 15166380
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II
Monogenic diabetes v0.2 POC1A Ellen McDonagh gene: POC1A was added
gene: POC1A was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 26336158
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Monogenic diabetes v0.2 CIDEC Ellen McDonagh gene: CIDEC was added
gene: CIDEC was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIDEC were set to 20049731
Phenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger Tag treatable tag was added to gene: ATP1A3.
Adult onset neurodegenerative disorder v0.2 ATP1A2 Rebecca Foulger Tag treatable tag was added to gene: ATP1A2.
Adult onset neurodegenerative disorder v0.2 AR Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: AR.
Tag currently-ngs-unreportable tag was added to gene: AR.
Hereditary ataxia with onset in adulthood v0.5 HTT Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: HTT.
Tag currently-ngs-unreportable tag was added to gene: HTT.
Hereditary ataxia with onset in adulthood v0.5 SLC2A1 Eleanor Williams Tag treatable tag was added to gene: SLC2A1.
Hereditary ataxia with onset in adulthood v0.5 PRRT2 Eleanor Williams Tag treatable tag was added to gene: PRRT2.
Hereditary ataxia with onset in adulthood v0.5 KCNA1 Eleanor Williams Tag treatable tag was added to gene: KCNA1.
Hereditary ataxia with onset in adulthood v0.5 CACNB4 Eleanor Williams Tag treatable tag was added to gene: CACNB4.
Mitochondrial disorders v1.81 MRPS34 Sarah Leigh Phenotypes for gene: MRPS34 were changed from Combined oxidative phosphorylation deficiency 32, MIM#617664 to Combined oxidative phosphorylation deficiency 32 617664
Hereditary ataxia with onset in adulthood v0.5 CACNA1A Eleanor Williams Tag treatable tag was added to gene: CACNA1A.
Hereditary ataxia with onset in adulthood v0.5 ATP7B Eleanor Williams Tag treatable tag was added to gene: ATP7B.
Hereditary ataxia with onset in adulthood v0.5 ATP1A3 Eleanor Williams Tag treatable tag was added to gene: ATP1A3.
Hereditary ataxia with onset in adulthood v0.5 ATP1A2 Eleanor Williams Tag treatable tag was added to gene: ATP1A2.
Adult onset neurodegenerative disorder v0.2 ISCA-37478-Loss Rebecca Foulger Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; Angelman syndrome; Prader-Willi syndrome; 105830; Mental retardation
Adult onset neurodegenerative disorder v0.2 ISCA-37478-Gain Rebecca Foulger Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 16840569; 9106540; 18374305
Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome
Adult onset neurodegenerative disorder v0.2 ISCA-37468-Loss Rebecca Foulger Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 23414621; 22365943; 20485326
Phenotypes for Region: ISCA-37468-Loss were set to hypotonia; exiting behavior; autistic features; eleveated serotonin levels; stereotypical hand movements; severe intellectual disability; short stature; episodes of sudden loss of muscle tone; lip-smacking
Adult onset neurodegenerative disorder v0.2 ISCA-37404-Loss Rebecca Foulger Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; 105831; Angelman syndrome; Prader-Willi syndrome; Mental retardation
Adult onset neurodegenerative disorder v0.2 ZNF592 Rebecca Foulger gene: ZNF592 was added
gene: ZNF592 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5
Adult onset neurodegenerative disorder v0.2 ZFYVE27 Rebecca Foulger gene: ZFYVE27 was added
gene: ZFYVE27 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZFYVE27 were set to Mannan AU (2006)
Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant
Adult onset neurodegenerative disorder v0.2 ZFYVE26 Rebecca Foulger Added phenotypes Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia. for gene: ZFYVE26
Adult onset neurodegenerative disorder v0.2 ZFYVE26 Rebecca Foulger gene: ZFYVE26 was added
gene: ZFYVE26 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to PMID:25497598; 25842392; Hanein et al. (2008)
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive
Adult onset neurodegenerative disorder v0.2 ZEB2 Rebecca Foulger gene: ZEB2 was added
gene: ZEB2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ZEB2 was set to Unknown
Adult onset neurodegenerative disorder v0.2 YY1 Rebecca Foulger gene: YY1 was added
gene: YY1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557
Adult onset neurodegenerative disorder v0.2 XRCC1 Rebecca Foulger gene: XRCC1 was added
gene: XRCC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403
Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
Adult onset neurodegenerative disorder v0.2 WWOX Rebecca Foulger gene: WWOX was added
gene: WWOX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12 (#614322)
Adult onset neurodegenerative disorder v0.2 WFS1 Rebecca Foulger gene: WFS1 was added
gene: WFS1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 WDR81 Rebecca Foulger gene: WDR81 was added
gene: WDR81 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Adult onset neurodegenerative disorder v0.2 WDR73 Rebecca Foulger Added phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature for gene: WDR73
Adult onset neurodegenerative disorder v0.2 WDR73 Rebecca Foulger gene: WDR73 was added
gene: WDR73 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome
Adult onset neurodegenerative disorder v0.2 WDR48 Rebecca Foulger gene: WDR48 was added
gene: WDR48 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR48 were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 WDR45B Rebecca Foulger gene: WDR45B was added
gene: WDR45B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR45B were set to 21937992; 28503735
Phenotypes for gene: WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Adult onset neurodegenerative disorder v0.2 WDR45 Rebecca Foulger Added phenotypes Dystonia; beta-propeller protein-associated neurodegeneration for gene: WDR45
Adult onset neurodegenerative disorder v0.2 WDR45 Rebecca Foulger gene: WDR45 was added
gene: WDR45 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: WDR45 were set to Dystonia; beta-propeller protein-associated neurodegeneration
Adult onset neurodegenerative disorder v0.2 WASHC5 Rebecca Foulger gene: WASHC5 was added
gene: WASHC5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WASHC5 were set to Valdmanis et al. (2007)
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant
Adult onset neurodegenerative disorder v0.2 VRK1 Rebecca Foulger gene: VRK1 was added
gene: VRK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia 1A (#607596)
Adult onset neurodegenerative disorder v0.2 VPS53 Rebecca Foulger gene: VPS53 was added
gene: VPS53 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 24577744
Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia 2E (#615851)
Adult onset neurodegenerative disorder v0.2 VPS37A Rebecca Foulger Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A
Adult onset neurodegenerative disorder v0.2 VPS37A Rebecca Foulger gene: VPS37A was added
gene: VPS37A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)
Phenotypes for gene: VPS37A were set to Dystonia
Adult onset neurodegenerative disorder v0.2 VPS35 Rebecca Foulger gene: VPS35 was added
gene: VPS35 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VPS35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VPS35 were set to 27777137; 22517097; 23408866; 26547032; 21763482; 22991136; 21763483; 24854799
Phenotypes for gene: VPS35 were set to Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease; PARKINSON DISEASE 17; PARK17
Adult onset neurodegenerative disorder v0.2 VPS13D Rebecca Foulger gene: VPS13D was added
gene: VPS13D was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13D were set to spastic ataxia
Adult onset neurodegenerative disorder v0.2 VPS13A Rebecca Foulger Added phenotypes Complex parkinsonism; 200150; Choreoacanthocytosis for gene: VPS13A
Adult onset neurodegenerative disorder v0.2 VPS13A Rebecca Foulger gene: VPS13A was added
gene: VPS13A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13A were set to 11381253
Phenotypes for gene: VPS13A were set to complex parkinsonism
Adult onset neurodegenerative disorder v0.2 VLDLR Rebecca Foulger gene: VLDLR was added
gene: VLDLR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 VEGFA Rebecca Foulger gene: VEGFA was added
gene: VEGFA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: VEGFA was set to Unknown
Adult onset neurodegenerative disorder v0.2 VCP Rebecca Foulger Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 for gene: VCP
Adult onset neurodegenerative disorder v0.2 VCP Rebecca Foulger gene: VCP was added
gene: VCP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VCP were set to 26511028; 25618255; 27178390; 25457024; 23881933; 25492614
Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; familial amyotrophic lateral sclerosis (ALS14); Amyotrophic Lateral Sclerosis, Dominant
Adult onset neurodegenerative disorder v0.2 VAPB Rebecca Foulger gene: VAPB was added
gene: VAPB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAPB were set to Amyotrophic lateral sclerosis 8, 608627; Amyotrophic Lateral Sclerosis, Dominant
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger gene: VAMP1 was added
gene: VAMP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAMP1 were set to 22958904
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
Adult onset neurodegenerative disorder v0.2 VAC14 Rebecca Foulger gene: VAC14 was added
gene: VAC14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset 617054
Adult onset neurodegenerative disorder v0.2 USP8 Rebecca Foulger gene: USP8 was added
gene: USP8 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP8 were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 UNC13A Rebecca Foulger gene: UNC13A was added
gene: UNC13A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: UNC13A was set to Unknown
Adult onset neurodegenerative disorder v0.2 UCHL1 Rebecca Foulger Added phenotypes Early onset ataxia and optic neuropathy for gene: UCHL1
Adult onset neurodegenerative disorder v0.2 UCHL1 Rebecca Foulger gene: UCHL1 was added
gene: UCHL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UCHL1 were set to PMID: 23359680
Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to}
Adult onset neurodegenerative disorder v0.2 UBR4 Rebecca Foulger gene: UBR4 was added
gene: UBR4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to PMID: 23982692
Phenotypes for gene: UBR4 were set to Episodic ataxia
Adult onset neurodegenerative disorder v0.2 UBQLN2 Rebecca Foulger Added phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 for gene: UBQLN2
Adult onset neurodegenerative disorder v0.2 UBQLN2 Rebecca Foulger gene: UBQLN2 was added
gene: UBQLN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: UBQLN2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: UBQLN2 were set to Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857
Adult onset neurodegenerative disorder v0.2 TYROBP Rebecca Foulger gene: TYROBP was added
gene: TYROBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYROBP were set to 15049507
Phenotypes for gene: TYROBP were set to Dementia
Adult onset neurodegenerative disorder v0.2 TWNK Rebecca Foulger gene: TWNK was added
gene: TWNK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant)
Adult onset neurodegenerative disorder v0.2 TUBB4A Rebecca Foulger Added phenotypes hypomyelinating leukodystrophy 6; Dystonia; Complex parkinsonism; hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101 for gene: TUBB4A
Adult onset neurodegenerative disorder v0.2 TUBB4A Rebecca Foulger Added phenotypes Dystonia 4, torsion, autosomal dominant 128101; ataxia; Leukodystrophy, hypomyelinating, 6 612438 for gene: TUBB4A
Adult onset neurodegenerative disorder v0.2 TUBB4A Rebecca Foulger Added phenotypes Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. for gene: TUBB4A
Adult onset neurodegenerative disorder v0.2 TUBB4A Rebecca Foulger gene: TUBB4A was added
gene: TUBB4A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to PMID: 25497598; 27809427
Phenotypes for gene: TUBB4A were set to Dystonia; hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101
Adult onset neurodegenerative disorder v0.2 TTPA Rebecca Foulger gene: TTPA was added
gene: TTPA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency; Ataxia with Vitamin E Deficiency
Adult onset neurodegenerative disorder v0.2 TTC19 Rebecca Foulger gene: TTC19 was added
gene: TTC19 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Nuclear type mitochondrial complex III deficiency (#615157)
Adult onset neurodegenerative disorder v0.2 TTBK2 Rebecca Foulger gene: TTBK2 was added
gene: TTBK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11
Adult onset neurodegenerative disorder v0.2 TSEN54 Rebecca Foulger gene: TSEN54 was added
gene: TSEN54 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)
Adult onset neurodegenerative disorder v0.2 TSEN34 Rebecca Foulger gene: TSEN34 was added
gene: TSEN34 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia 2C (612390)
Adult onset neurodegenerative disorder v0.2 TSEN2 Rebecca Foulger gene: TSEN2 was added
gene: TSEN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389)
Adult onset neurodegenerative disorder v0.2 TREX1 Rebecca Foulger gene: TREX1 was added
gene: TREX1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TREX1 was set to Unknown
Phenotypes for gene: TREX1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 TREM2 Rebecca Foulger Added phenotypes Dementia for gene: TREM2
Adult onset neurodegenerative disorder v0.2 TREM2 Rebecca Foulger gene: TREM2 was added
gene: TREM2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TREM2 was set to Unknown
Phenotypes for gene: TREM2 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 TPP1 Rebecca Foulger gene: TPP1 was added
gene: TPP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500)
Adult onset neurodegenerative disorder v0.2 TPK1 Rebecca Foulger gene: TPK1 was added
gene: TPK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TPK1 was set to Unknown
Phenotypes for gene: TPK1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 TOR1A Rebecca Foulger Added phenotypes primary torsion dystonia (DYT1), early-onset isolated dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia for gene: TOR1A
Adult onset neurodegenerative disorder v0.2 TOR1A Rebecca Foulger gene: TOR1A was added
gene: TOR1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TOR1A were set to 17503336; 16537570; 11523564; 9288096; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301665
Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia
Adult onset neurodegenerative disorder v0.2 TMEM240 Rebecca Foulger gene: TMEM240 was added
gene: TMEM240 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21 (#616101)
Adult onset neurodegenerative disorder v0.2 TIMM8A Rebecca Foulger gene: TIMM8A was added
gene: TIMM8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to Unknown
Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome
Adult onset neurodegenerative disorder v0.2 THAP1 Rebecca Foulger Added phenotypes Dystonia; Dystonia 6, torsion, 602629; DYT6 for gene: THAP1
Adult onset neurodegenerative disorder v0.2 THAP1 Rebecca Foulger gene: THAP1 was added
gene: THAP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: THAP1 were set to 21793105; http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: THAP1 were set to Dystonia; Dystonia 6, torsion, 602629
Adult onset neurodegenerative disorder v0.2 TH Rebecca Foulger Added phenotypes DOPA-responsive dystonia; Segawa syndrome; Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia for gene: TH
Adult onset neurodegenerative disorder v0.2 TH Rebecca Foulger gene: TH was added
gene: TH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: TH were set to infantile parkinsonism; Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia
Adult onset neurodegenerative disorder v0.2 TGM6 Rebecca Foulger gene: TGM6 was added
gene: TGM6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35
Adult onset neurodegenerative disorder v0.2 TFG Rebecca Foulger gene: TFG was added
gene: TFG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFG were set to Beetz et al. (2013)
Adult onset neurodegenerative disorder v0.2 TECPR2 Rebecca Foulger gene: TECPR2 was added
gene: TECPR2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 26542466
Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031
Adult onset neurodegenerative disorder v0.2 TDP1 Rebecca Foulger gene: TDP1 was added
gene: TDP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Adult onset neurodegenerative disorder v0.2 TBP Rebecca Foulger Added phenotypes Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 for gene: TBP
Adult onset neurodegenerative disorder v0.2 TBP Rebecca Foulger gene: TBP was added
gene: TBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBP were set to Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600
Adult onset neurodegenerative disorder v0.2 TBK1 Rebecca Foulger Added phenotypes fronto-temporal dementia; Amyotrophic lateral sclerosis for gene: TBK1
Adult onset neurodegenerative disorder v0.2 TBK1 Rebecca Foulger gene: TBK1 was added
gene: TBK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TBK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBK1 were set to 26350399; 25803835; 26581300; 26476236; 25700176; 27260353
Phenotypes for gene: TBK1 were set to ALS; FTLD
Adult onset neurodegenerative disorder v0.2 TARDBP Rebecca Foulger Added phenotypes Frontotemporal Dementia for gene: TARDBP
Adult onset neurodegenerative disorder v0.2 TARDBP Rebecca Foulger gene: TARDBP was added
gene: TARDBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TARDBP were set to 23881933; 20697052
Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Amyotrophic Lateral Sclerosis, Dominant
Adult onset neurodegenerative disorder v0.2 TAF1 Rebecca Foulger Added phenotypes (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Adult onset neurodegenerative disorder v0.2 TAF1 Rebecca Foulger gene: TAF1 was added
gene: TAF1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: TAF1 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: TAF1 were set to PMID: 12928496; PMID: 26637982; 17273961; PMID: 26879577; PMID: 17273961; 12928496; PMID: 26769797; 17668393; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301662; 26637982; PMID: 23184149; PMID: 2368812
Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250
Adult onset neurodegenerative disorder v0.2 SYT14 Rebecca Foulger gene: SYT14 was added
gene: SYT14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYT14 were set to Spinocerebellarataxia,autosomalrecessive11,614229
Adult onset neurodegenerative disorder v0.2 SYNJ1 Rebecca Foulger Added phenotypes Parkinson disease 20, early-onset, 615530; juvenile Parkinsonism; Early Onset Complex Disease for gene: SYNJ1
Adult onset neurodegenerative disorder v0.2 SYNJ1 Rebecca Foulger gene: SYNJ1 was added
gene: SYNJ1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNJ1 were set to 23804577; 23804563; 27435091; 26149920; 27496670
Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Parkinson disease 20, early-onset
Adult onset neurodegenerative disorder v0.2 SYNE1 Rebecca Foulger gene: SYNE1 was added
gene: SYNE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8
Adult onset neurodegenerative disorder v0.2 SUOX Rebecca Foulger gene: SUOX was added
gene: SUOX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SUOX was set to Unknown
Phenotypes for gene: SUOX were set to Dystonia
Adult onset neurodegenerative disorder v0.2 SUCLA2 Rebecca Foulger gene: SUCLA2 was added
gene: SUCLA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SUCLA2 was set to Unknown
Phenotypes for gene: SUCLA2 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 STUB1 Rebecca Foulger gene: STUB1 was added
gene: STUB1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16
Adult onset neurodegenerative disorder v0.2 SRD5A3 Rebecca Foulger gene: SRD5A3 was added
gene: SRD5A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 SPTBN2 Rebecca Foulger gene: SPTBN2 was added
gene: SPTBN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPTBN2 were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia, autosomal recessive 14; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia 5
Adult onset neurodegenerative disorder v0.2 SPR Rebecca Foulger Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia; Dopa-Responsive Dystonia for gene: SPR
Adult onset neurodegenerative disorder v0.2 SPR Rebecca Foulger Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 for gene: SPR
Adult onset neurodegenerative disorder v0.2 SPR Rebecca Foulger gene: SPR was added
gene: SPR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia; Dopa-Responsive Dystonia
Adult onset neurodegenerative disorder v0.2 SPG7 Rebecca Foulger Added phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia for gene: SPG7
Adult onset neurodegenerative disorder v0.2 SPG7 Rebecca Foulger gene: SPG7 was added
gene: SPG7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to PMID: 25681447; Casari et al (1998)
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive
Adult onset neurodegenerative disorder v0.2 SPG21 Rebecca Foulger gene: SPG21 was added
gene: SPG21 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG21 were set to Simpson et al. (2003)
Phenotypes for gene: SPG21 were set to Spastic Paraplegia, Recessive
Adult onset neurodegenerative disorder v0.2 SPG11 Rebecca Foulger Added phenotypes early onset parkinsonism, levo dopa responsve; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease for gene: SPG11
Adult onset neurodegenerative disorder v0.2 SPG11 Rebecca Foulger gene: SPG11 was added
gene: SPG11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 19224311; 27820618; Stevanin et al. (2007); 21381113
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive
Adult onset neurodegenerative disorder v0.2 SPAST Rebecca Foulger gene: SPAST was added
gene: SPAST was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to Hazan et al (1999)
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant
Adult onset neurodegenerative disorder v0.2 SPART Rebecca Foulger gene: SPART was added
gene: SPART was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to Patel et al. (2002
Adult onset neurodegenerative disorder v0.2 SOD1 Rebecca Foulger gene: SOD1 was added
gene: SOD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOD1 were set to 23687121
Phenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis 1, 105400; amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis, Dominant
Adult onset neurodegenerative disorder v0.2 SNX14 Rebecca Foulger gene: SNX14 was added
gene: SNX14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354)
Adult onset neurodegenerative disorder v0.2 SNCB Rebecca Foulger gene: SNCB was added
gene: SNCB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SNCB was set to Unknown
Phenotypes for gene: SNCB were set to Dementia, Lewy body, 127750
Adult onset neurodegenerative disorder v0.2 SNCAIP Rebecca Foulger gene: SNCAIP was added
gene: SNCAIP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SNCAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNCAIP were set to Parkinson Disease, Dominant/Recessive
Adult onset neurodegenerative disorder v0.2 SNCA Rebecca Foulger Added phenotypes Parkinson disease 4, 605543 for gene: SNCA
Adult onset neurodegenerative disorder v0.2 SNCA Rebecca Foulger gene: SNCA was added
gene: SNCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SNCA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNCA were set to Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Parkinson disease 4, 605543; Parkinson disease 1, 168601; Dementia, Lewy body, 127750
Adult onset neurodegenerative disorder v0.2 SLC9A6 Rebecca Foulger gene: SLC9A6 was added
gene: SLC9A6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
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)
Adult onset neurodegenerative disorder v0.2 SLC6A5 Rebecca Foulger gene: SLC6A5 was added
gene: SLC6A5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Adult onset neurodegenerative disorder v0.2 SLC6A3 Rebecca Foulger Added phenotypes Parkinsonism-dystonia, infantile, 613135; {Nicotine dependence, protection against}, 188890 for gene: SLC6A3
Adult onset neurodegenerative disorder v0.2 SLC6A3 Rebecca Foulger gene: SLC6A3 was added
gene: SLC6A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A3 were set to PMID: 24613933
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135
Adult onset neurodegenerative disorder v0.2 SLC52A3 Rebecca Foulger gene: SLC52A3 was added
gene: SLC52A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC52A3 were set to Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1
Adult onset neurodegenerative disorder v0.2 SLC52A2 Rebecca Foulger gene: SLC52A2 was added
gene: SLC52A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Adult onset neurodegenerative disorder v0.2 SLC52A1 Rebecca Foulger gene: SLC52A1 was added
gene: SLC52A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency (condition resembling childhood-onset motor neurone disease)
Adult onset neurodegenerative disorder v0.2 SLC46A1 Rebecca Foulger gene: SLC46A1 was added
gene: SLC46A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC46A1 was set to Unknown
Phenotypes for gene: SLC46A1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 SLC41A1 Rebecca Foulger gene: SLC41A1 was added
gene: SLC41A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC41A1 was set to Unknown
Publications for gene: SLC41A1 were set to 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients
Phenotypes for gene: SLC41A1 were set to Parkinson disease (Yan (2011) Int J Neurosci 121,632)
Adult onset neurodegenerative disorder v0.2 SLC39A14 Rebecca Foulger Added phenotypes Hypermanganesemia with dystonia 2 617013 for gene: SLC39A14
Adult onset neurodegenerative disorder v0.2 SLC39A14 Rebecca Foulger gene: SLC39A14 was added
gene: SLC39A14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 617013
Adult onset neurodegenerative disorder v0.2 SLC33A1 Rebecca Foulger gene: SLC33A1 was added
gene: SLC33A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC33A1 were set to Lin et al. (2008)
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant,
Adult onset neurodegenerative disorder v0.2 SLC30A10 Rebecca Foulger Added phenotypes hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease for gene: SLC30A10
Adult onset neurodegenerative disorder v0.2 SLC30A10 Rebecca Foulger gene: SLC30A10 was added
gene: SLC30A10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 25778823; 22341972; 22934317; 22926781; 22341971
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Adult onset neurodegenerative disorder v0.2 SLC2A1 Rebecca Foulger Added phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 for gene: SLC2A1
Adult onset neurodegenerative disorder v0.2 SLC2A1 Rebecca Foulger Added phenotypes GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia for gene: SLC2A1
Adult onset neurodegenerative disorder v0.2 SLC2A1 Rebecca Foulger gene: SLC2A1 was added
gene: SLC2A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546
Adult onset neurodegenerative disorder v0.2 SLC25A46 Rebecca Foulger gene: SLC25A46 was added
gene: SLC25A46 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 26168012; 28369803
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB 616505
Adult onset neurodegenerative disorder v0.2 SLC20A2 Rebecca Foulger gene: SLC20A2 was added
gene: SLC20A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC20A2 was set to Unknown
Phenotypes for gene: SLC20A2 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 SLC1A4 Rebecca Foulger gene: SLC1A4 was added
gene: SLC1A4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 26138499; 27193218; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Adult onset neurodegenerative disorder v0.2 SLC1A3 Rebecca Foulger Added phenotypes Episodic ataxia, type 6, for gene: SLC1A3
Adult onset neurodegenerative disorder v0.2 SLC1A3 Rebecca Foulger gene: SLC1A3 was added
gene: SLC1A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC1A3 were set to 16116111; 27829685; 19139306
Phenotypes for gene: SLC1A3 were set to EPISODIC ATAXIA, TYPE 6
Adult onset neurodegenerative disorder v0.2 SLC19A3 Rebecca Foulger gene: SLC19A3 was added
gene: SLC19A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC19A3 was set to Unknown
Phenotypes for gene: SLC19A3 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 SLC16A2 Rebecca Foulger gene: SLC16A2 was added
gene: SLC16A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Adult onset neurodegenerative disorder v0.2 SIL1 Rebecca Foulger gene: SIL1 was added
gene: SIL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 SIGMAR1 Rebecca Foulger gene: SIGMAR1 was added
gene: SIGMAR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIGMAR1 were set to PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions; PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls
Phenotypes for gene: SIGMAR1 were set to Amyotrophic lateral sclerosis 16, juvenile, 614373
Adult onset neurodegenerative disorder v0.2 SGCE Rebecca Foulger Added phenotypes Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900 for gene: SGCE
Adult onset neurodegenerative disorder v0.2 SGCE Rebecca Foulger gene: SGCE was added
gene: SGCE was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078
Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900
Adult onset neurodegenerative disorder v0.2 SETX Rebecca Foulger Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 for gene: SETX
Adult onset neurodegenerative disorder v0.2 SETX Rebecca Foulger gene: SETX was added
gene: SETX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SETX were set to 22577233; 23129421; 23881933 (putative disease causing variants reported in Table 1).
Phenotypes for gene: SETX were set to Ataxia-ocular apraxia-2; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
Adult onset neurodegenerative disorder v0.2 SERAC1 Rebecca Foulger Added phenotypes Dystonia; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
Adult onset neurodegenerative disorder v0.2 SERAC1 Rebecca Foulger gene: SERAC1 was added
gene: SERAC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 22683713; 28778788; 27604308; 16527507; 28482397; 29205472; 27186703
Phenotypes for gene: SERAC1 were set to MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Adult onset neurodegenerative disorder v0.2 SEPSECS Rebecca Foulger gene: SEPSECS was added
gene: SEPSECS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D (613811)
Adult onset neurodegenerative disorder v0.2 SDHAF1 Rebecca Foulger gene: SDHAF1 was added
gene: SDHAF1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SDHAF1 was set to Unknown
Phenotypes for gene: SDHAF1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 SCP2 Rebecca Foulger gene: SCP2 was added
gene: SCP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SCP2 was set to Unknown
Publications for gene: SCP2 were set to PMID: 16685654
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724
Adult onset neurodegenerative disorder v0.2 SCN9A Rebecca Foulger gene: SCN9A was added
gene: SCN9A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Erythermalgia, primary, 133020; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Dysosteosclerosis; Insensitivity to pain, channelopathy-associated, 243000; Hereditary Sensory Neuropathy; Paroxysmal extreme pain disorder, 167400; Febrile seizures, familial, 3B, 613863; Erythermalgia, Primary
Adult onset neurodegenerative disorder v0.2 SCN8A Rebecca Foulger Added phenotypes Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
Adult onset neurodegenerative disorder v0.2 SCN8A Rebecca Foulger gene: SCN8A was added
gene: SCN8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias
Adult onset neurodegenerative disorder v0.2 SCN1A Rebecca Foulger gene: SCN1A was added
gene: SCN1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3; Dravet syndrome
Adult onset neurodegenerative disorder v0.2 SAR1B Rebecca Foulger gene: SAR1B was added
gene: SAR1B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease 246700
Adult onset neurodegenerative disorder v0.2 SAMHD1 Rebecca Foulger gene: SAMHD1 was added
gene: SAMHD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SAMHD1 was set to Unknown
Phenotypes for gene: SAMHD1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 SACS Rebecca Foulger Added phenotypes Spastic ataxia, Charlevoix-Saguenay type for gene: SACS
Adult onset neurodegenerative disorder v0.2 SACS Rebecca Foulger gene: SACS was added
gene: SACS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type
Adult onset neurodegenerative disorder v0.2 RUBCN Rebecca Foulger gene: RUBCN was added
gene: RUBCN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUBCN were set to PMID: 20826435
Adult onset neurodegenerative disorder v0.2 RTN2 Rebecca Foulger gene: RTN2 was added
gene: RTN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RTN2 were set to Montenegro et al. (2012)
Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant
Adult onset neurodegenerative disorder v0.2 RNF216 Rebecca Foulger gene: RNF216 was added
gene: RNF216 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Adult onset neurodegenerative disorder v0.2 RNF170 Rebecca Foulger gene: RNF170 was added
gene: RNF170 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant
Adult onset neurodegenerative disorder v0.2 RNASEH2C Rebecca Foulger gene: RNASEH2C was added
gene: RNASEH2C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2C was set to Unknown
Phenotypes for gene: RNASEH2C were set to Dystonia
Adult onset neurodegenerative disorder v0.2 RNASEH2B Rebecca Foulger gene: RNASEH2B was added
gene: RNASEH2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2B was set to Unknown
Phenotypes for gene: RNASEH2B were set to Dystonia
Adult onset neurodegenerative disorder v0.2 RNASEH2A Rebecca Foulger gene: RNASEH2A was added
gene: RNASEH2A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2A was set to Unknown
Phenotypes for gene: RNASEH2A were set to Dystonia
Adult onset neurodegenerative disorder v0.2 RELN Rebecca Foulger gene: RELN was added
gene: RELN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 REEP2 Rebecca Foulger gene: REEP2 was added
gene: REEP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: REEP2 were set to 24388663
Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625
Adult onset neurodegenerative disorder v0.2 REEP1 Rebecca Foulger gene: REEP1 was added
gene: REEP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: REEP1 were set to Zuchner et al. (2006)
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant
Adult onset neurodegenerative disorder v0.2 RARS2 Rebecca Foulger gene: RARS2 was added
gene: RARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to epilepsy; Pontocerebellar hypoplasia
Adult onset neurodegenerative disorder v0.2 RAB39B Rebecca Foulger gene: RAB39B was added
gene: RAB39B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RAB39B 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: RAB39B were set to 26399558; 27066548; 27459931; 2639955; 25434005; 27694831
Phenotypes for gene: RAB39B were set to early-onset parkinsonism and intellectual disability; ?Waisman syndrome
Adult onset neurodegenerative disorder v0.2 QDPR Rebecca Foulger gene: QDPR was added
gene: QDPR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: QDPR was set to Unknown
Phenotypes for gene: QDPR were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PTS Rebecca Foulger gene: PTS was added
gene: PTS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PTS was set to Unknown
Phenotypes for gene: PTS were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PTEN was set to Unknown
Phenotypes for gene: PTEN were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PSEN2 Rebecca Foulger gene: PSEN2 was added
gene: PSEN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN2 were set to 22503161; 23028126
Phenotypes for gene: PSEN2 were set to Dementia
Adult onset neurodegenerative disorder v0.2 PSEN1 Rebecca Foulger Added phenotypes Dystonia for gene: PSEN1
Adult onset neurodegenerative disorder v0.2 PSEN1 Rebecca Foulger Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and apraxia for gene: PSEN1
Adult onset neurodegenerative disorder v0.2 PSEN1 Rebecca Foulger gene: PSEN1 was added
gene: PSEN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 22503161; 23028126
Phenotypes for gene: PSEN1 were set to Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Dementia, frontotemporal, 600274; Pick disease, 172700; Clinical syndrome Alzheimer disease; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694
Adult onset neurodegenerative disorder v0.2 PRRT2 Rebecca Foulger Added phenotypes dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; EPISODIC KINESIGENIC DYSKINESIA 1; episodic kinesigenic dyskinesia for gene: PRRT2
Adult onset neurodegenerative disorder v0.2 PRRT2 Rebecca Foulger gene: PRRT2 was added
gene: PRRT2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRRT2 were set to 22120146; 22399141; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22101681; 22744660
Phenotypes for gene: PRRT2 were set to Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; Episodic kinesigenic dyskinesia 1, 128200
Adult onset neurodegenerative disorder v0.2 PRNP Rebecca Foulger Added phenotypes Clinical syndrome Prion disease; Dementia for gene: PRNP
Adult onset neurodegenerative disorder v0.2 PRNP Rebecca Foulger gene: PRNP was added
gene: PRNP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRNP were set to 20583301; 26791950
Phenotypes for gene: PRNP were set to Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Huntington disease-like 1; Insomnia, fatal familial
Adult onset neurodegenerative disorder v0.2 PRKRA Rebecca Foulger Added phenotypes Dystonia; Dystonia 16, 612067; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa for gene: PRKRA
Adult onset neurodegenerative disorder v0.2 PRKRA Rebecca Foulger gene: PRKRA was added
gene: PRKRA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 18420150 - a novel heterozygous variant c.266_267delAT; 25914261; 26990861; 22842711; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; 18243799; 25142429; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 24142417; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 25737287
Phenotypes for gene: PRKRA were set to Dystonia 16; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease
Adult onset neurodegenerative disorder v0.2 PRKN Rebecca Foulger Added phenotypes Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia for gene: PRKN
Adult onset neurodegenerative disorder v0.2 PRKN Rebecca Foulger gene: PRKN was added
gene: PRKN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to PMID: 22956510
Phenotypes for gene: PRKN were set to Parkinson Disease 2, Autosomal Recessive Juvenile; Parkinson Disease, Juvenile
Adult onset neurodegenerative disorder v0.2 PRKCG Rebecca Foulger gene: PRKCG was added
gene: PRKCG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14
Adult onset neurodegenerative disorder v0.2 PRICKLE1 Rebecca Foulger gene: PRICKLE1 was added
gene: PRICKLE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Progressive Myoclonus Epilepsy with Ataxia
Adult onset neurodegenerative disorder v0.2 PPP2R2B Rebecca Foulger gene: PPP2R2B was added
gene: PPP2R2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PPP2R2B was set to Unknown
Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326
Adult onset neurodegenerative disorder v0.2 POLR3A Rebecca Foulger Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia for gene: POLR3A
Adult onset neurodegenerative disorder v0.2 POLR3A Rebecca Foulger gene: POLR3A was added
gene: POLR3A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 25655951; 21855841
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia
Adult onset neurodegenerative disorder v0.2 POLG Rebecca Foulger gene: POLG was added
gene: POLG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Adult onset neurodegenerative disorder v0.2 PNPT1 Rebecca Foulger gene: PNPT1 was added
gene: PNPT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PNPT1 was set to Unknown
Phenotypes for gene: PNPT1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PNPLA6 Rebecca Foulger Added phenotypes Spastic paraplegia 39, autosomal recessive for gene: PNPLA6
Adult onset neurodegenerative disorder v0.2 PNPLA6 Rebecca Foulger gene: PNPLA6 was added
gene: PNPLA6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to Rainier et al. (2008)
Phenotypes for gene: PNPLA6 were set to Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Oliver-McFarlane syndrome (#603197); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Adult onset neurodegenerative disorder v0.2 PNKP Rebecca Foulger gene: PNKP was added
gene: PNKP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267)
Adult onset neurodegenerative disorder v0.2 PNKD Rebecca Foulger Added phenotypes Familial Paroxysmal Nonkinesigenic Dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 118800 for gene: PNKD
Adult onset neurodegenerative disorder v0.2 PNKD Rebecca Foulger gene: PNKD was added
gene: PNKD was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to 15262732; 15496428; 15824259; http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
Adult onset neurodegenerative disorder v0.2 PMPCA Rebecca Foulger gene: PMPCA was added
gene: PMPCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCA were set to PMID:25808372
Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Adult onset neurodegenerative disorder v0.2 PLP1 Rebecca Foulger Added phenotypes Dystonia for gene: PLP1
Adult onset neurodegenerative disorder v0.2 PLP1 Rebecca Foulger gene: PLP1 was added
gene: PLP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLP1 were set to Saugier-Veber et al (1994)
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked
Adult onset neurodegenerative disorder v0.2 PLA2G6 Rebecca Foulger Added phenotypes PLA2G6-associated neurodegeneration for gene: PLA2G6
Adult onset neurodegenerative disorder v0.2 PLA2G6 Rebecca Foulger Added phenotypes Infantile neuroaxonal dystrophy 1 (#256600); Parkinson disease 14 (#612953); Neurodegeneration with brain iron accumulation 2B (#610217) for gene: PLA2G6
Adult onset neurodegenerative disorder v0.2 PLA2G6 Rebecca Foulger gene: PLA2G6 was added
gene: PLA2G6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, 612953; Early Onset Complex Disease
Adult onset neurodegenerative disorder v0.2 PINK1 Rebecca Foulger Added phenotypes Parkinson disease 6, early onset, 605909; Parkinson Disease 6, Autosomal Recessive Early-Onset for gene: PINK1
Adult onset neurodegenerative disorder v0.2 PINK1 Rebecca Foulger gene: PINK1 was added
gene: PINK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PINK1 were set to Parkinson disease 6, early onset
Phenotypes for gene: PINK1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PIK3R5 Rebecca Foulger gene: PIK3R5 was added
gene: PIK3R5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3
Adult onset neurodegenerative disorder v0.2 PGAP1 Rebecca Foulger gene: PGAP1 was added
gene: PGAP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP1 were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 PFN1 Rebecca Foulger gene: PFN1 was added
gene: PFN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PFN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PFN1 were set to Amyotrophic lateral sclerosis 18, 614808
Adult onset neurodegenerative disorder v0.2 PEX16 Rebecca Foulger gene: PEX16 was added
gene: PEX16 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Adult onset neurodegenerative disorder v0.2 PDYN Rebecca Foulger gene: PDYN was added
gene: PDYN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23
Adult onset neurodegenerative disorder v0.2 PDHX Rebecca Foulger gene: PDHX was added
gene: PDHX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PDHX was set to Unknown
Phenotypes for gene: PDHX were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PDGFRB Rebecca Foulger gene: PDGFRB was added
gene: PDGFRB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PDGFRB was set to Unknown
Phenotypes for gene: PDGFRB were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PCLO Rebecca Foulger gene: PCLO was added
gene: PCLO was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCLO were set to PMID: 25832664
Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Adult onset neurodegenerative disorder v0.2 PCDH12 Rebecca Foulger Added phenotypes microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities for gene: PCDH12
Adult onset neurodegenerative disorder v0.2 PCDH12 Rebecca Foulger gene: PCDH12 was added
gene: PCDH12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683
Phenotypes for gene: PCDH12 were set to microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities
Adult onset neurodegenerative disorder v0.2 PAX6 Rebecca Foulger gene: PAX6 was added
gene: PAX6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation
Adult onset neurodegenerative disorder v0.2 PAX2 Rebecca Foulger gene: PAX2 was added
gene: PAX2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PAX2 was set to Unknown
Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2)
Adult onset neurodegenerative disorder v0.2 PARK7 Rebecca Foulger Added phenotypes Parkinson disease 7, autosomal recessive early-onset for gene: PARK7
Adult onset neurodegenerative disorder v0.2 PARK7 Rebecca Foulger gene: PARK7 was added
gene: PARK7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARK7 were set to Parkinson disease 7 autosomal recessive early-onset; 606324
Adult onset neurodegenerative disorder v0.2 PANK2 Rebecca Foulger Added phenotypes pantothenate kinase-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 1; 234200; Early Onset Complex Disease for gene: PANK2
Adult onset neurodegenerative disorder v0.2 PANK2 Rebecca Foulger gene: PANK2 was added
gene: PANK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Dystonia; pantothenate kinase-associated neurodegeneration
Adult onset neurodegenerative disorder v0.2 OPTN Rebecca Foulger gene: OPTN was added
gene: OPTN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: OPTN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: OPTN were set to PMID: 25943890; (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient; (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS; PMID: 26203661; PMID: 25859013 - functional evidence; PMID: 25681989; PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS; PMID: 26503823; PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.; and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration.
Phenotypes for gene: OPTN were set to Glaucoma 1, open angle, E, 137760; Amyotrophic Lateral Sclerosis, Recessive
Adult onset neurodegenerative disorder v0.2 OPHN1 Rebecca Foulger gene: OPHN1 was added
gene: OPHN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v0.2 OPA3 Rebecca Foulger Added phenotypes Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
Adult onset neurodegenerative disorder v0.2 OPA3 Rebecca Foulger Added phenotypes Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
Adult onset neurodegenerative disorder v0.2 OPA3 Rebecca Foulger gene: OPA3 was added
gene: OPA3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 25201222; 25657044; 11668429; 20301646; 24944951
Phenotypes for gene: OPA3 were set to Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501
Adult onset neurodegenerative disorder v0.2 NT5C2 Rebecca Foulger gene: NT5C2 was added
gene: NT5C2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C2 were set to 28884889; 24482476; 29123918; 28327087
Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162
Adult onset neurodegenerative disorder v0.2 NR4A2 Rebecca Foulger gene: NR4A2 was added
gene: NR4A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NR4A2 were set to 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233
Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to)
Adult onset neurodegenerative disorder v0.2 NPC2 Rebecca Foulger Added phenotypes Dystonia for gene: NPC2
Adult onset neurodegenerative disorder v0.2 NPC2 Rebecca Foulger gene: NPC2 was added
gene: NPC2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625)
Adult onset neurodegenerative disorder v0.2 NPC1 Rebecca Foulger gene: NPC1 was added
gene: NPC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220)
Adult onset neurodegenerative disorder v0.2 NOTCH3 Rebecca Foulger gene: NOTCH3 was added
gene: NOTCH3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH3 were set to Dementia
Adult onset neurodegenerative disorder v0.2 NOP56 Rebecca Foulger gene: NOP56 was added
gene: NOP56 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NOP56 was set to Other - please specifiy in evaluation comments
Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153
Adult onset neurodegenerative disorder v0.2 NKX6-2 Rebecca Foulger Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Adult onset neurodegenerative disorder v0.2 NKX6-2 Rebecca Foulger Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Adult onset neurodegenerative disorder v0.2 NKX6-2 Rebecca Foulger gene: NKX6-2 was added
gene: NKX6-2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Adult onset neurodegenerative disorder v0.2 NKX2-1 Rebecca Foulger gene: NKX2-1 was added
gene: NKX2-1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Adult onset neurodegenerative disorder v0.2 NIPA1 Rebecca Foulger gene: NIPA1 was added
gene: NIPA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to Rainier et al. (2003)
Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6, autosomal dominant; Spasticparaplegia6,autosomaldominant,600363
Adult onset neurodegenerative disorder v0.2 NHLRC1 Rebecca Foulger Added phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780 for gene: NHLRC1
Adult onset neurodegenerative disorder v0.2 NHLRC1 Rebecca Foulger gene: NHLRC1 was added
gene: NHLRC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC1 were set to 12958597; 15781812
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Adult onset neurodegenerative disorder v0.2 NEFH Rebecca Foulger gene: NEFH was added
gene: NEFH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NEFH were set to PMID: 24488689
Phenotypes for gene: NEFH were set to susceptibility to amyotrophic lateral sclerosis (ALS)
Adult onset neurodegenerative disorder v0.2 NDUFA12 Rebecca Foulger gene: NDUFA12 was added
gene: NDUFA12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 21617257
Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency 256000
Adult onset neurodegenerative disorder v0.2 NAGLU Rebecca Foulger gene: NAGLU was added
gene: NAGLU was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to PMID: 25818867
Phenotypes for gene: NAGLU were set to Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
Adult onset neurodegenerative disorder v0.2 MVK Rebecca Foulger gene: MVK was added
gene: MVK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 24896178; 26503795
Phenotypes for gene: MVK were set to Mevalonic aciduria 610377
Adult onset neurodegenerative disorder v0.2 MTTP Rebecca Foulger gene: MTTP was added
gene: MTTP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100
Adult onset neurodegenerative disorder v0.2 MTPAP Rebecca Foulger Added phenotypes Ataxia, spastic, 4, for gene: MTPAP
Adult onset neurodegenerative disorder v0.2 MTPAP Rebecca Foulger gene: MTPAP was added
gene: MTPAP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive
Adult onset neurodegenerative disorder v0.2 MT-ND6 Rebecca Foulger gene: MT-ND6 was added
gene: MT-ND6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber Optic Atrophy And Dystonia
Adult onset neurodegenerative disorder v0.2 MT-ATP6 Rebecca Foulger gene: MT-ATP6 was added
gene: MT-ATP6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa
Adult onset neurodegenerative disorder v0.2 MRE11 Rebecca Foulger gene: MRE11 was added
gene: MRE11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder; Ataxia-Telangiectasia-Like Disorder
Adult onset neurodegenerative disorder v0.2 MR1 Rebecca Foulger gene: MR1 was added
gene: MR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MR1 were set to Dystonia; Paroxysmal/Episodic dystonia
Adult onset neurodegenerative disorder v0.2 MPV17 Rebecca Foulger gene: MPV17 was added
gene: MPV17 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MPV17 was set to Unknown
Phenotypes for gene: MPV17 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 MMADHC Rebecca Foulger gene: MMADHC was added
gene: MMADHC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MMADHC was set to Unknown
Phenotypes for gene: MMADHC were set to Dystonia
Adult onset neurodegenerative disorder v0.2 MMACHC Rebecca Foulger gene: MMACHC was added
gene: MMACHC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to PMID: 26283149
Phenotypes for gene: MMACHC were set to Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400)
Adult onset neurodegenerative disorder v0.2 MECR Rebecca Foulger gene: MECR was added
gene: MECR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Adult onset neurodegenerative disorder v0.2 MCOLN1 Rebecca Foulger gene: MCOLN1 was added
gene: MCOLN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MCOLN1 was set to Unknown
Phenotypes for gene: MCOLN1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 MAT1A Rebecca Foulger gene: MAT1A was added
gene: MAT1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MAT1A was set to Unknown
Phenotypes for gene: MAT1A were set to Dystonia
Adult onset neurodegenerative disorder v0.2 MARS2 Rebecca Foulger Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2
Adult onset neurodegenerative disorder v0.2 MARS2 Rebecca Foulger gene: MARS2 was added
gene: MARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to PubMed: 22448145
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive
Adult onset neurodegenerative disorder v0.2 MARS Rebecca Foulger gene: MARS was added
gene: MARS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 MAPT Rebecca Foulger Added phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Supranuclear palsy, progressive atypical, 260540 for gene: MAPT
Adult onset neurodegenerative disorder v0.2 MAPT Rebecca Foulger gene: MAPT was added
gene: MAPT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPT were set to 20301678; 28334843
Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism, 600274; Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Adult onset neurodegenerative disorder v0.2 MAG Rebecca Foulger gene: MAG was added
gene: MAG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAG were set to 24482476; 26179919
Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680
Adult onset neurodegenerative disorder v0.2 LYST Rebecca Foulger gene: LYST was added
gene: LYST was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 23436631; 11857544; 9215680; 8896560; 9215679
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism
Adult onset neurodegenerative disorder v0.2 LRRK2 Rebecca Foulger gene: LRRK2 was added
gene: LRRK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRK2 were set to 28395804; 28395803; 25391693; 27090875; 28395805; 28395802
Phenotypes for gene: LRRK2 were set to Parkinson Disease 8, Autosomal Dominant; Autosomal dominant Parkinson's disease; Parkinson Disease, Dominant; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; LRRK2 G2019S mutation; Parkinson disease 8, 607060
Adult onset neurodegenerative disorder v0.2 L2HGDH Rebecca Foulger gene: L2HGDH was added
gene: L2HGDH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: L2HGDH was set to Unknown
Phenotypes for gene: L2HGDH were set to Dystonia
Adult onset neurodegenerative disorder v0.2 L1CAM Rebecca Foulger gene: L1CAM was added
gene: L1CAM was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: L1CAM were set to PMID: 7920659
Phenotypes for gene: L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
Adult onset neurodegenerative disorder v0.2 KMT2B Rebecca Foulger gene: KMT2B was added
gene: KMT2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to 27992417
Phenotypes for gene: KMT2B were set to early-onset dystonia
Adult onset neurodegenerative disorder v0.2 KIF5A Rebecca Foulger gene: KIF5A was added
gene: KIF5A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF5A were set to Reid et al. (2002)
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant
Adult onset neurodegenerative disorder v0.2 KIF1C Rebecca Foulger Added phenotypes Spastic ataxia 2,autosomal recessive for gene: KIF1C
Adult onset neurodegenerative disorder v0.2 KIF1C Rebecca Foulger gene: KIF1C was added
gene: KIF1C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1C were set to 24482476; 17273843; 24319291
Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive
Adult onset neurodegenerative disorder v0.2 KIF1A Rebecca Foulger gene: KIF1A was added
gene: KIF1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to Erlich et al. (2011)
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive
Adult onset neurodegenerative disorder v0.2 KIDINS220 Rebecca Foulger gene: KIDINS220 was added
gene: KIDINS220 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296
Adult onset neurodegenerative disorder v0.2 KCNQ3 Rebecca Foulger gene: KCNQ3 was added
gene: KCNQ3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Adult onset neurodegenerative disorder v0.2 KCNQ2 Rebecca Foulger Added phenotypes Dystonia for gene: KCNQ2
Adult onset neurodegenerative disorder v0.2 KCNQ2 Rebecca Foulger gene: KCNQ2 was added
gene: KCNQ2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200
Adult onset neurodegenerative disorder v0.2 KCNK18 Rebecca Foulger gene: KCNK18 was added
gene: KCNK18 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: KCNK18 was set to Unknown
Publications for gene: KCNK18 were set to 22355750; 20871611
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Adult onset neurodegenerative disorder v0.2 KCNJ10 Rebecca Foulger gene: KCNJ10 was added
gene: KCNJ10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
Adult onset neurodegenerative disorder v0.2 KCND3 Rebecca Foulger gene: KCND3 was added
gene: KCND3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Spinocerebellarataxia19,607346
Adult onset neurodegenerative disorder v0.2 KCNC3 Rebecca Foulger gene: KCNC3 was added
gene: KCNC3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13
Adult onset neurodegenerative disorder v0.2 KCNA1 Rebecca Foulger Added phenotypes Episodic ataxia/myokymia syndrome, for gene: KCNA1
Adult onset neurodegenerative disorder v0.2 KCNA1 Rebecca Foulger gene: KCNA1 was added
gene: KCNA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to myokymia with periodic ataxia; EPISODIC ATAXIA, TYPE 1
Adult onset neurodegenerative disorder v0.2 JPH3 Rebecca Foulger Added phenotypes Huntington disease-like 2 606438 for gene: JPH3
Adult onset neurodegenerative disorder v0.2 JPH3 Rebecca Foulger gene: JPH3 was added
gene: JPH3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH3 were set to Huntington disease-like 2 606438
Adult onset neurodegenerative disorder v0.2 ITPR1 Rebecca Foulger gene: ITPR1 was added
gene: ITPR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 29; Spinocerebellar ataxia 15
Adult onset neurodegenerative disorder v0.2 ITM2B Rebecca Foulger gene: ITM2B was added
gene: ITM2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITM2B were set to Dementia, familial British, 176500
Adult onset neurodegenerative disorder v0.2 IPPK Rebecca Foulger gene: IPPK was added
gene: IPPK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: IPPK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IPPK were set to Early Onset Complex Disease
Adult onset neurodegenerative disorder v0.2 IBA57 Rebecca Foulger gene: IBA57 was added
gene: IBA57 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 25609768; 30258207
Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451
Adult onset neurodegenerative disorder v0.2 HTT Rebecca Foulger Added phenotypes Huntingtons disease (HD) for gene: HTT
Adult onset neurodegenerative disorder v0.2 HTT Rebecca Foulger gene: HTT was added
gene: HTT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease 143100
Adult onset neurodegenerative disorder v0.2 HTRA2 Rebecca Foulger Added phenotypes Parkinson Disease, Dominant; Parkinson disease 13, 610297 for gene: HTRA2
Adult onset neurodegenerative disorder v0.2 HTRA2 Rebecca Foulger gene: HTRA2 was added
gene: HTRA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 15961413; 27696117; 23462481; 18364387; 27208207; 18401856
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII 617248
Adult onset neurodegenerative disorder v0.2 HTRA1 Rebecca Foulger gene: HTRA1 was added
gene: HTRA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: HTRA1 was set to Unknown
Phenotypes for gene: HTRA1 were set to Dementia
Adult onset neurodegenerative disorder v0.2 HSPD1 Rebecca Foulger gene: HSPD1 was added
gene: HSPD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPD1 were set to Hansen et al. (2002)
Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant
Adult onset neurodegenerative disorder v0.2 HPRT1 Rebecca Foulger gene: HPRT1 was added
gene: HPRT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: HPRT1 was set to Unknown
Phenotypes for gene: HPRT1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 HPCA Rebecca Foulger gene: HPCA was added
gene: HPCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPCA were set to 30145809; 25799108
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; adolescence-onset segmental dystonia; childhood-onset generalized dystonia
Adult onset neurodegenerative disorder v0.2 HNRNPA1 Rebecca Foulger Added phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal for gene: HNRNPA1
Adult onset neurodegenerative disorder v0.2 HNRNPA1 Rebecca Foulger gene: HNRNPA1 was added
gene: HNRNPA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNRNPA1 were set to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Adult onset neurodegenerative disorder v0.2 HFE Rebecca Foulger gene: HFE was added
gene: HFE was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: HFE was set to Unknown
Adult onset neurodegenerative disorder v0.2 HEXB Rebecca Foulger gene: HEXB was added
gene: HEXB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 HEXA Rebecca Foulger gene: HEXA was added
gene: HEXA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 GRN Rebecca Foulger Added phenotypes clinical presentation suggestive of cortico-basal/PSP syndrome; Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions for gene: GRN
Adult onset neurodegenerative disorder v0.2 GRN Rebecca Foulger gene: GRN was added
gene: GRN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRN were set to 20301545; 17923627
Phenotypes for gene: GRN were set to Frontotemporal Dementia; Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Adult onset neurodegenerative disorder v0.2 GRM1 Rebecca Foulger gene: GRM1 was added
gene: GRM1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13
Adult onset neurodegenerative disorder v0.2 GRID2 Rebecca Foulger gene: GRID2 was added
gene: GRID2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to PMID: 25841024
Phenotypes for gene: GRID2 were set to Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204)
Adult onset neurodegenerative disorder v0.2 GPAA1 Rebecca Foulger gene: GPAA1 was added
gene: GPAA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPAA1 were set to 29100095; 24896178
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Adult onset neurodegenerative disorder v0.2 GOSR2 Rebecca Foulger gene: GOSR2 was added
gene: GOSR2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOSR2 were set to 24285620; 21549339; 20301317
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018
Adult onset neurodegenerative disorder v0.2 GNAO1 Rebecca Foulger gene: GNAO1 was added
gene: GNAO1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAO1 were set to 25966631; 27068059; 27625011; 28357411; 26060304
Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493
Adult onset neurodegenerative disorder v0.2 GNAL Rebecca Foulger Added phenotypes adult-onset cranio-cervical dystonia; Dystonia 25, 615073 for gene: GNAL
Adult onset neurodegenerative disorder v0.2 GNAL Rebecca Foulger gene: GNAL was added
gene: GNAL was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAL were set to 25847575; 24729450; 24535567; 24408567; 26365774; 26810727; 27093447; 27123488; 23222958; 26506956; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 23449625; 23759320; 25382112; 24151159; 26725140
Phenotypes for gene: GNAL were set to Dystonia 25, 615073
Adult onset neurodegenerative disorder v0.2 GLRB Rebecca Foulger gene: GLRB was added
gene: GLRB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Adult onset neurodegenerative disorder v0.2 GLRA1 Rebecca Foulger gene: GLRA1 was added
gene: GLRA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Adult onset neurodegenerative disorder v0.2 GJC2 Rebecca Foulger Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2
Adult onset neurodegenerative disorder v0.2 GJC2 Rebecca Foulger gene: GJC2 was added
gene: GJC2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia
Adult onset neurodegenerative disorder v0.2 GIGYF2 Rebecca Foulger gene: GIGYF2 was added
gene: GIGYF2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: GIGYF2 was set to Unknown
Publications for gene: GIGYF2 were set to 20044296; 26134514; 18923002; 19279319; 19250854; 19321232; 20060621; 19449032; 201788319; 18358451; 19429085; 20685231; 19482505
Phenotypes for gene: GIGYF2 were set to {Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688
Adult onset neurodegenerative disorder v0.2 GFAP Rebecca Foulger gene: GFAP was added
gene: GFAP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to Autosomal Dominant Ataxia; Alexander disease
Adult onset neurodegenerative disorder v0.2 GCH1 Rebecca Foulger Source Expert Review Amber was added to GCH1.
Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset neurodegenerative disorder v0.2 GCH1 Rebecca Foulger Added phenotypes Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD) for gene: GCH1
Adult onset neurodegenerative disorder v0.2 GCH1 Rebecca Foulger gene: GCH1 was added
gene: GCH1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 24509643; 21935284; http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: GCH1 were set to Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)
Adult onset neurodegenerative disorder v0.2 GCDH Rebecca Foulger gene: GCDH was added
gene: GCDH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: GCDH was set to Unknown
Phenotypes for gene: GCDH were set to Dystonia
Adult onset neurodegenerative disorder v0.2 GBA2 Rebecca Foulger gene: GBA2 was added
gene: GBA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to Martin et al. (2013)
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive
Adult onset neurodegenerative disorder v0.2 GBA Rebecca Foulger Added phenotypes Gaucher disease, type I, 230800 for gene: GBA
Adult onset neurodegenerative disorder v0.2 GBA Rebecca Foulger gene: GBA was added
gene: GBA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GBA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GBA were set to 29400127; 27779773; 27632223; 27648471; 27717005
Phenotypes for gene: GBA were set to {Parkinson disease, late-onset, susceptibility to}, 168600
Adult onset neurodegenerative disorder v0.2 GAMT Rebecca Foulger gene: GAMT was added
gene: GAMT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: GAMT was set to Unknown
Phenotypes for gene: GAMT were set to Dystonia
Adult onset neurodegenerative disorder v0.2 GAD1 Rebecca Foulger gene: GAD1 was added
gene: GAD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: GAD1 was set to Unknown
Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513
Adult onset neurodegenerative disorder v0.2 FXN Rebecca Foulger gene: FXN was added
gene: FXN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
Adult onset neurodegenerative disorder v0.2 FUS Rebecca Foulger Added phenotypes Dementia for gene: FUS
Adult onset neurodegenerative disorder v0.2 FUS Rebecca Foulger gene: FUS was added
gene: FUS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FUS were set to Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal; Amyotrophic Lateral Sclerosis, Dominant
Adult onset neurodegenerative disorder v0.2 FTL Rebecca Foulger Added phenotypes Neurodegeneration with brain iron accumulation 3 for gene: FTL
Adult onset neurodegenerative disorder v0.2 FTL Rebecca Foulger gene: FTL was added
gene: FTL was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTL were set to 24209436; http://www.ncbi.nlm.nih.gov/pubmed/24209436
Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3; movement disorder
Adult onset neurodegenerative disorder v0.2 FOXRED1 Rebecca Foulger gene: FOXRED1 was added
gene: FOXRED1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: FOXRED1 was set to Unknown
Phenotypes for gene: FOXRED1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 FOXG1 Rebecca Foulger gene: FOXG1 was added
gene: FOXG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: FOXG1 was set to Unknown
Phenotypes for gene: FOXG1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 FOLR1 Rebecca Foulger gene: FOLR1 was added
gene: FOLR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 FMR1 Rebecca Foulger gene: FMR1 was added
gene: FMR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FMR1 were set to FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI); males with a tremor phenotype; FragileXtremor/ataxiasyndrome,300623
Adult onset neurodegenerative disorder v0.2 FLVCR1 Rebecca Foulger gene: FLVCR1 was added
gene: FLVCR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa,
Adult onset neurodegenerative disorder v0.2 FIG4 Rebecca Foulger gene: FIG4 was added
gene: FIG4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FIG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FIG4 were set to PMID: 19118816
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, 611228; Amyotrophic Lateral Sclerosis, Dominant
Adult onset neurodegenerative disorder v0.2 FGF14 Rebecca Foulger gene: FGF14 was added
gene: FGF14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27
Adult onset neurodegenerative disorder v0.2 FBXO7 Rebecca Foulger Added phenotypes Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; parkinsonian-pyramidal syndrome; Early Onset Complex Disease for gene: FBXO7
Adult onset neurodegenerative disorder v0.2 FBXO7 Rebecca Foulger gene: FBXO7 was added
gene: FBXO7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Dystonia; juvenile parkinsonism
Adult onset neurodegenerative disorder v0.2 FASTKD2 Rebecca Foulger gene: FASTKD2 was added
gene: FASTKD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: FASTKD2 was set to Unknown
Phenotypes for gene: FASTKD2 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARS2 were set to 26553276; 29126765; 30250868; 25851414
Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046
Adult onset neurodegenerative disorder v0.2 FA2H Rebecca Foulger Added phenotypes Spastic paraplegia 35, autosomal recessive for gene: FA2H
Adult onset neurodegenerative disorder v0.2 FA2H Rebecca Foulger gene: FA2H was added
gene: FA2H was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to Edvardson et al. (2008)
Phenotypes for gene: FA2H were set to Dystonia; fatty acid hydroxylase-associated neurodegeneration
Adult onset neurodegenerative disorder v0.2 EXOSC3 Rebecca Foulger gene: EXOSC3 was added
gene: EXOSC3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 ERLIN2 Rebecca Foulger gene: ERLIN2 was added
gene: ERLIN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to 21796390; 21330303; 23085305; 27824013; 25977983; 29528531; 23897027; 23109142; 28832565; 22554690; 23109145
Phenotypes for gene: ERLIN2 were set to neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia, autosomal dominant
Adult onset neurodegenerative disorder v0.2 ERCC6 Rebecca Foulger gene: ERCC6 was added
gene: ERCC6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to Unknown
Phenotypes for gene: ERCC6 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 ERBB4 Rebecca Foulger gene: ERBB4 was added
gene: ERBB4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ERBB4 were set to Amyotrophic lateral sclerosis 19, 615515
Adult onset neurodegenerative disorder v0.2 EPM2A Rebecca Foulger Added phenotypes Epilepsy, progressive myoclonic 2A (Lafora) 254780 for gene: EPM2A
Adult onset neurodegenerative disorder v0.2 EPM2A Rebecca Foulger gene: EPM2A was added
gene: EPM2A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPM2A were set to 27604308; 10932264; 14722920
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780
Adult onset neurodegenerative disorder v0.2 ENTPD1 Rebecca Foulger gene: ENTPD1 was added
gene: ENTPD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENTPD1 were set to Novarino et al. (2014)
Phenotypes for gene: ENTPD1 were set to Spasticparaplegia64,615683
Adult onset neurodegenerative disorder v0.2 ELOVL5 Rebecca Foulger gene: ELOVL5 was added
gene: ELOVL5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 36 (#615957)
Adult onset neurodegenerative disorder v0.2 ELOVL4 Rebecca Foulger gene: ELOVL4 was added
gene: ELOVL4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ELOVL4 were set to 24566826; 26010696
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190
Adult onset neurodegenerative disorder v0.2 EIF4G1 Rebecca Foulger gene: EIF4G1 was added
gene: EIF4G1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: EIF4G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EIF4G1 were set to Parkinsons disease 18, 614251
Adult onset neurodegenerative disorder v0.2 EIF2B5 Rebecca Foulger gene: EIF2B5 was added
gene: EIF2B5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Adult onset neurodegenerative disorder v0.2 EIF2B4 Rebecca Foulger gene: EIF2B4 was added
gene: EIF2B4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Adult onset neurodegenerative disorder v0.2 EIF2B3 Rebecca Foulger gene: EIF2B3 was added
gene: EIF2B3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Adult onset neurodegenerative disorder v0.2 EIF2B2 Rebecca Foulger gene: EIF2B2 was added
gene: EIF2B2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Adult onset neurodegenerative disorder v0.2 EIF2B1 Rebecca Foulger gene: EIF2B1 was added
gene: EIF2B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Adult onset neurodegenerative disorder v0.2 EARS2 Rebecca Foulger gene: EARS2 was added
gene: EARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: EARS2 was set to Unknown
Phenotypes for gene: EARS2 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 DYNC1H1 Rebecca Foulger gene: DYNC1H1 was added
gene: DYNC1H1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability
Adult onset neurodegenerative disorder v0.2 DSTYK Rebecca Foulger gene: DSTYK was added
gene: DSTYK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSTYK were set to 28157540
Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750
Adult onset neurodegenerative disorder v0.2 DRD5 Rebecca Foulger gene: DRD5 was added
gene: DRD5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DRD5 was set to Unknown
Publications for gene: DRD5 were set to PMID: 17133500
Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798
Adult onset neurodegenerative disorder v0.2 DRD2 Rebecca Foulger gene: DRD2 was added
gene: DRD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DRD2 was set to Unknown
Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/
Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900
Adult onset neurodegenerative disorder v0.2 DNMT1 Rebecca Foulger Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, for gene: DNMT1
Adult onset neurodegenerative disorder v0.2 DNMT1 Rebecca Foulger gene: DNMT1 was added
gene: DNMT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 23365052
Phenotypes for gene: DNMT1 were set to Dementia, Deafness, and Sensory Neuropathy
Adult onset neurodegenerative disorder v0.2 DNAJC6 Rebecca Foulger gene: DNAJC6 was added
gene: DNAJC6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC6 were set to 22563501; 26528954; 23211418; 26703368; 27687717
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19b, early-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19a, juvenile-onset
Adult onset neurodegenerative disorder v0.2 DNAJC5 Rebecca Foulger Added phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 for gene: DNAJC5
Adult onset neurodegenerative disorder v0.2 DNAJC5 Rebecca Foulger gene: DNAJC5 was added
gene: DNAJC5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC5 were set to 27604308; 21820099
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Adult onset neurodegenerative disorder v0.2 DNAJC19 Rebecca Foulger gene: DNAJC19 was added
gene: DNAJC19 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 16055927; 27604308; 27426421; 22797137; 27928778
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198; dilated cardiomyopathy with ataxia (DCMA) syndrome
Adult onset neurodegenerative disorder v0.2 DMXL2 Rebecca Foulger gene: DMXL2 was added
gene: DMXL2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMXL2 were set to 25248098; 22875945; 27657680
Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; ORPHA90636; OMIM:612186
Adult onset neurodegenerative disorder v0.2 DLAT Rebecca Foulger gene: DLAT was added
gene: DLAT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DLAT was set to Unknown
Phenotypes for gene: DLAT were set to Dystonia
Adult onset neurodegenerative disorder v0.2 DDHD2 Rebecca Foulger Added phenotypes Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. for gene: DDHD2
Adult onset neurodegenerative disorder v0.2 DDHD2 Rebecca Foulger gene: DDHD2 was added
gene: DDHD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive
Adult onset neurodegenerative disorder v0.2 DDHD1 Rebecca Foulger gene: DDHD1 was added
gene: DDHD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to Tesson et al. (2012)
Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive
Adult onset neurodegenerative disorder v0.2 DDC Rebecca Foulger gene: DDC was added
gene: DDC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DDC was set to Unknown
Phenotypes for gene: DDC were set to Dystonia
Adult onset neurodegenerative disorder v0.2 DCTN1 Rebecca Foulger Added phenotypes Perry syndrome for gene: DCTN1
Adult onset neurodegenerative disorder v0.2 DCTN1 Rebecca Foulger Added phenotypes Neuropathy, distal hereditary motor, type VIIB for gene: DCTN1
Adult onset neurodegenerative disorder v0.2 DCTN1 Rebecca Foulger Added phenotypes Perry syndrome for gene: DCTN1
Adult onset neurodegenerative disorder v0.2 DCTN1 Rebecca Foulger gene: DCTN1 was added
gene: DCTN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608; 26954557; 25109764
Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB, 607641; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400
Adult onset neurodegenerative disorder v0.2 DCAF17 Rebecca Foulger gene: DCAF17 was added
gene: DCAF17 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Dystonia; Woodhouse-Sakati syndrome
Adult onset neurodegenerative disorder v0.2 DARS2 Rebecca Foulger gene: DARS2 was added
gene: DARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 DAB1 Rebecca Foulger gene: DAB1 was added
gene: DAB1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAB1 were set to 28686858
Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 615945
Adult onset neurodegenerative disorder v0.2 CYP7B1 Rebecca Foulger gene: CYP7B1 was added
gene: CYP7B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive
Adult onset neurodegenerative disorder v0.2 CYP2U1 Rebecca Foulger Added phenotypes Spastic paraplegia 56, autosomal recessive for gene: CYP2U1
Adult onset neurodegenerative disorder v0.2 CYP2U1 Rebecca Foulger gene: CYP2U1 was added
gene: CYP2U1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to Tesson et al. (2012)
Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Adult onset neurodegenerative disorder v0.2 CYP27A1 Rebecca Foulger Added phenotypes Dystonia for gene: CYP27A1
Adult onset neurodegenerative disorder v0.2 CYP27A1 Rebecca Foulger gene: CYP27A1 was added
gene: CYP27A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 CWF19L1 Rebecca Foulger gene: CWF19L1 was added
gene: CWF19L1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 CSTB Rebecca Foulger Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 for gene: CSTB
Adult onset neurodegenerative disorder v0.2 CSTB Rebecca Foulger gene: CSTB was added
gene: CSTB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 26843564
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A, 254800; microcephaly and severe dyskinesia (26843564)
Adult onset neurodegenerative disorder v0.2 CSF1R Rebecca Foulger Added phenotypes dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids for gene: CSF1R
Adult onset neurodegenerative disorder v0.2 CSF1R Rebecca Foulger gene: CSF1R was added
gene: CSF1R was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF1R were set to 23787135
Phenotypes for gene: CSF1R were set to Dementia
Adult onset neurodegenerative disorder v0.2 CP Rebecca Foulger Added phenotypes Cerebellar ataxia, for gene: CP
Adult onset neurodegenerative disorder v0.2 CP Rebecca Foulger gene: CP was added
gene: CP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Dystonia; Aceruloplasminemia
Adult onset neurodegenerative disorder v0.2 COX20 Rebecca Foulger gene: COX20 was added
gene: COX20 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 COQ8A Rebecca Foulger gene: COQ8A was added
gene: COQ8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
Adult onset neurodegenerative disorder v0.2 COG5 Rebecca Foulger gene: COG5 was added
gene: COG5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 19690088; 28960046
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi 613612
Adult onset neurodegenerative disorder v0.2 COASY Rebecca Foulger gene: COASY was added
gene: COASY was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 27021474
Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6
Adult onset neurodegenerative disorder v0.2 CLP1 Rebecca Foulger gene: CLP1 was added
gene: CLP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia 10 (#615803)
Adult onset neurodegenerative disorder v0.2 CLN6 Rebecca Foulger gene: CLN6 was added
gene: CLN6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300)
Adult onset neurodegenerative disorder v0.2 CLCN2 Rebecca Foulger gene: CLCN2 was added
gene: CLCN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLCN2 were set to 19191339; 23707145
Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; Leukoencephalopathy with ataxia, 615651
Adult onset neurodegenerative disorder v0.2 CIZ1 Rebecca Foulger gene: CIZ1 was added
gene: CIZ1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: CIZ1 was set to Unknown
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Adult onset neurodegenerative disorder v0.2 CHMP2B Rebecca Foulger Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Adult onset neurodegenerative disorder v0.2 CHMP2B Rebecca Foulger Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; familial frontotemporal lobar degeneration (ALS17); Dystonia for gene: CHMP2B
Adult onset neurodegenerative disorder v0.2 CHMP2B Rebecca Foulger gene: CHMP2B was added
gene: CHMP2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHMP2B were set to PMID: 20352044 - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Phenotypes for gene: CHMP2B were set to Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696; Frontotemporal Dementia
Adult onset neurodegenerative disorder v0.2 CHMP1A Rebecca Foulger gene: CHMP1A was added
gene: CHMP1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia 8 (#614961)
Adult onset neurodegenerative disorder v0.2 CHCHD2 Rebecca Foulger gene: CHCHD2 was added
gene: CHCHD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to 26067110; Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114
Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant; 616710
Adult onset neurodegenerative disorder v0.2 CHCHD10 Rebecca Foulger Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 for gene: CHCHD10
Adult onset neurodegenerative disorder v0.2 CHCHD10 Rebecca Foulger gene: CHCHD10 was added
gene: CHCHD10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: CHCHD10 was set to Unknown
Phenotypes for gene: CHCHD10 were set to ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Adult onset neurodegenerative disorder v0.2 CDK16 Rebecca Foulger gene: CDK16 was added
gene: CDK16 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CDK16 were set to 26350204; 25644381
Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia
Adult onset neurodegenerative disorder v0.2 CCT5 Rebecca Foulger gene: CCT5 was added
gene: CCT5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia
Adult onset neurodegenerative disorder v0.2 CCDC88C Rebecca Foulger gene: CCDC88C was added
gene: CCDC88C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC88C were set to PMID: 25062847
Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia
Adult onset neurodegenerative disorder v0.2 CASK Rebecca Foulger gene: CASK was added
gene: CASK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v0.2 CAPN1 Rebecca Foulger gene: CAPN1 was added
gene: CAPN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive 616907
Adult onset neurodegenerative disorder v0.2 CAMTA1 Rebecca Foulger gene: CAMTA1 was added
gene: CAMTA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMTA1 were set to Cerebellarataxia,nonprogressive,withmentalretardation,614756 3
Adult onset neurodegenerative disorder v0.2 CACNB4 Rebecca Foulger Added phenotypes Episodic ataxia, type 5; Episodic Ataxia for gene: CACNB4
Adult onset neurodegenerative disorder v0.2 CACNB4 Rebecca Foulger gene: CACNB4 was added
gene: CACNB4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNB4 were set to 10762541; PMC1378014
Phenotypes for gene: CACNB4 were set to EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5
Adult onset neurodegenerative disorder v0.2 CACNA1G Rebecca Foulger gene: CACNA1G was added
gene: CACNA1G was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v0.2 CACNA1A Rebecca Foulger Added phenotypes Dystonia for gene: CACNA1A
Adult onset neurodegenerative disorder v0.2 CACNA1A Rebecca Foulger Added phenotypes episodic ataxia type 2 (EA2),108500; familial hemiplegic migraine type 1, 141500 for gene: CACNA1A
Adult onset neurodegenerative disorder v0.2 CACNA1A Rebecca Foulger gene: CACNA1A was added
gene: CACNA1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 21734179; 17575281
Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Spinocerebellar ataxia 6; Episodic ataxia, type 2
Adult onset neurodegenerative disorder v0.2 CA8 Rebecca Foulger gene: CA8 was added
gene: CA8 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger Added phenotypes Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3; Frontotemporal Dementia, Amyotrophic Lateral Sclerosis; Hexanucleotide repeat expansion; amyotrophic lateral sclerosis; frontotemporal dementia for gene: C9orf72
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger Added phenotypes Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis; Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3 for gene: C9orf72
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger gene: C9orf72 was added
gene: C9orf72 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C9orf72 were set to 27059391; 25638642; PMID: 21944778; 23597494; 21944779; http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098
Phenotypes for gene: C9orf72 were set to clinical presentation suggestive of cortico-basal/PSP syndrome; complex parkinsonism; (Hexanucleotideexpansion)
Adult onset neurodegenerative disorder v0.2 C19orf12 Rebecca Foulger Added phenotypes mitochondrial membrane protein-associated neurodegeneration; Dystonia; neurodegeneration with brain iron accumulation-4 for gene: C19orf12
Adult onset neurodegenerative disorder v0.2 C19orf12 Rebecca Foulger gene: C19orf12 was added
gene: C19orf12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to Landoure (2013)
Phenotypes for gene: C19orf12 were set to mitochondrial membrane protein-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 4
Adult onset neurodegenerative disorder v0.2 C12orf65 Rebecca Foulger gene: C12orf65 was added
gene: C12orf65 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Phenotypes for gene: C12orf65 were set to Spasticparaplegia55,autosomalrecessive,615035
Adult onset neurodegenerative disorder v0.2 BSCL2 Rebecca Foulger gene: BSCL2 was added
gene: BSCL2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BSCL2 were set to Windpassinger et al. (2004)
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome,
Adult onset neurodegenerative disorder v0.2 BEAN1 Rebecca Foulger gene: BEAN1 was added
gene: BEAN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BEAN1 were set to 19878914
Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31 117210
Adult onset neurodegenerative disorder v0.2 BCAP31 Rebecca Foulger gene: BCAP31 was added
gene: BCAP31 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: BCAP31 was set to Unknown
Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475
Adult onset neurodegenerative disorder v0.2 B4GALNT1 Rebecca Foulger gene: B4GALNT1 was added
gene: B4GALNT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AUH Rebecca Foulger gene: AUH was added
gene: AUH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: AUH was set to Unknown
Phenotypes for gene: AUH were set to Dystonia
Adult onset neurodegenerative disorder v0.2 ATXN8 Rebecca Foulger gene: ATXN8 was added
gene: ATXN8 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN8 were set to 10192387
Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 608768
Adult onset neurodegenerative disorder v0.2 ATXN7 Rebecca Foulger gene: ATXN7 was added
gene: ATXN7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN7 was set to Unknown
Phenotypes for gene: ATXN7 were set to Spinocerebellarataxia7,164500
Adult onset neurodegenerative disorder v0.2 ATXN3 Rebecca Foulger Added phenotypes familial parkinsonism; (CAGexpansion) for gene: ATXN3
Adult onset neurodegenerative disorder v0.2 ATXN3 Rebecca Foulger gene: ATXN3 was added
gene: ATXN3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger Added phenotypes Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090 for gene: ATXN2
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger Added phenotypes familial parkinsonism; (CAGexpansion) for gene: ATXN2
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger gene: ATXN2 was added
gene: ATXN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATXN2 were set to 24488689
Phenotypes for gene: ATXN2 were set to Spinocerebellar ataxia 2, 183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090
Adult onset neurodegenerative disorder v0.2 ATXN10 Rebecca Foulger gene: ATXN10 was added
gene: ATXN10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN10 was set to Unknown
Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10,603516
Adult onset neurodegenerative disorder v0.2 ATXN1 Rebecca Foulger gene: ATXN1 was added
gene: ATXN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN1 was set to Unknown
Phenotypes for gene: ATXN1 were set to Spinocerebellarataxia1,164400
Adult onset neurodegenerative disorder v0.2 ATP8A2 Rebecca Foulger gene: ATP8A2 was added
gene: ATP8A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8A2 were set to PMID: 22892528
Adult onset neurodegenerative disorder v0.2 ATP7B Rebecca Foulger Added phenotypes Dystonia; Wilson Disease for gene: ATP7B
Adult onset neurodegenerative disorder v0.2 ATP7B Rebecca Foulger gene: ATP7B was added
gene: ATP7B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900
Adult onset neurodegenerative disorder v0.2 ATP6AP2 Rebecca Foulger gene: ATP6AP2 was added
gene: ATP6AP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP2 were set to 23595882
Phenotypes for gene: ATP6AP2 were set to ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423
Adult onset neurodegenerative disorder v0.2 ATP2B3 Rebecca Foulger gene: ATP2B3 was added
gene: ATP2B3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATP2B3 was set to Unknown
Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger Added phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; DYSTONIA 12, 128235 for gene: ATP1A3
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger Added phenotypes alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; CAPOS syndrome; rapid-onset dystonia-parkinsonism; Dystonia-12 for gene: ATP1A3
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger Added phenotypes Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) for gene: ATP1A3
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger gene: ATP1A3 was added
gene: ATP1A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A3 were set to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232
Phenotypes for gene: ATP1A3 were set to Dystonia-12, 128235; Rapid-Onset Dystonia-Parkinsonism
Adult onset neurodegenerative disorder v0.2 ATP1A2 Rebecca Foulger Added phenotypes Dystonia; migraine for gene: ATP1A2
Adult onset neurodegenerative disorder v0.2 ATP1A2 Rebecca Foulger gene: ATP1A2 was added
gene: ATP1A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 18056581; 12953268
Phenotypes for gene: ATP1A2 were set to alternating hemiplegia of childhood 104290; familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481
Adult onset neurodegenerative disorder v0.2 ATP13A2 Rebecca Foulger Added phenotypes Parkinson disease 9, 606693; Kufor-Rakeb Syndrome for gene: ATP13A2
Adult onset neurodegenerative disorder v0.2 ATP13A2 Rebecca Foulger gene: ATP13A2 was added
gene: ATP13A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Dystonia; Kufor-Rakeb syndrome; Parkinson disease
Adult onset neurodegenerative disorder v0.2 ATN1 Rebecca Foulger Added phenotypes Dentatorubro-pallidoluysian atrophy 125370 for gene: ATN1
Adult onset neurodegenerative disorder v0.2 ATN1 Rebecca Foulger gene: ATN1 was added
gene: ATN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370
Adult onset neurodegenerative disorder v0.2 ATM Rebecca Foulger Added phenotypes Dystonia; Ataxia telangiectasia for gene: ATM
Adult onset neurodegenerative disorder v0.2 ATM Rebecca Foulger gene: ATM was added
gene: ATM was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia,; Ataxia-Telangiectasia
Adult onset neurodegenerative disorder v0.2 ATL1 Rebecca Foulger gene: ATL1 was added
gene: ATL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to PMID: 11685207
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant; Spastic paraplegia 3A, autosomal dominant
Adult onset neurodegenerative disorder v0.2 ATCAY Rebecca Foulger gene: ATCAY was added
gene: ATCAY was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type; Cerebellar Ataxia, Cayman type
Adult onset neurodegenerative disorder v0.2 ARX Rebecca Foulger gene: ARX was added
gene: ARX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ARX was set to Unknown
Phenotypes for gene: ARX were set to Dystonia
Adult onset neurodegenerative disorder v0.2 ARSI Rebecca Foulger gene: ARSI was added
gene: ARSI was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSI were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 ARSA Rebecca Foulger Added phenotypes Dystonia for gene: ARSA
Adult onset neurodegenerative disorder v0.2 ARSA Rebecca Foulger gene: ARSA was added
gene: ARSA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (#250100)
Adult onset neurodegenerative disorder v0.2 ARL6IP1 Rebecca Foulger gene: ARL6IP1 was added
gene: ARL6IP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 AR Rebecca Foulger gene: AR was added
gene: AR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to Spinal and bulbar muscular atrophy of Kennedy, 313200
Adult onset neurodegenerative disorder v0.2 APTX Rebecca Foulger Added phenotypes Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia for gene: APTX
Adult onset neurodegenerative disorder v0.2 APTX Rebecca Foulger gene: APTX was added
gene: APTX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Dystonia
Adult onset neurodegenerative disorder v0.2 APP Rebecca Foulger gene: APP was added
gene: APP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APP were set to 22503161; 23028126
Phenotypes for gene: APP were set to Clinical syndrome Alzheimer disease; Dementia
Adult onset neurodegenerative disorder v0.2 AP5Z1 Rebecca Foulger gene: AP5Z1 was added
gene: AP5Z1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i
Phenotypes for gene: AP5Z1 were set to Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4S1 Rebecca Foulger gene: AP4S1 was added
gene: AP4S1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)
Phenotypes for gene: AP4S1 were set to developmental delay; seizures; Spastic paraplegia 52, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4M1 Rebecca Foulger gene: AP4M1 was added
gene: AP4M1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to Verkerk et al. (2009)
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4E1 Rebecca Foulger gene: AP4E1 was added
gene: AP4E1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4B1 Rebecca Foulger gene: AP4B1 was added
gene: AP4B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP1S2 Rebecca Foulger Added phenotypes Dystonia for gene: AP1S2
Adult onset neurodegenerative disorder v0.2 AP1S2 Rebecca Foulger gene: AP1S2 was added
gene: AP1S2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v0.2 ANO3 Rebecca Foulger Added phenotypes Dystonia 24, 615034; familial form of cranio-cervical dystonia for gene: ANO3
Adult onset neurodegenerative disorder v0.2 ANO3 Rebecca Foulger gene: ANO3 was added
gene: ANO3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO3 were set to 25847575; 24442708; 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Phenotypes for gene: ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia
Adult onset neurodegenerative disorder v0.2 ANO10 Rebecca Foulger gene: ANO10 was added
gene: ANO10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10,
Adult onset neurodegenerative disorder v0.2 ANG Rebecca Foulger gene: ANG was added
gene: ANG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ANG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANG were set to PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients; PMID: 25372031 functional investigation of ANG variants.; PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population; PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS
Phenotypes for gene: ANG were set to Amyotrophic lateral sclerosis 9, 611895; Amyotrophic Lateral Sclerosis, Dominant; familial amyotrophic lateral sclerosis (ALS9)
Adult onset neurodegenerative disorder v0.2 AMPD2 Rebecca Foulger Added phenotypes Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia? for gene: AMPD2
Adult onset neurodegenerative disorder v0.2 AMPD2 Rebecca Foulger gene: AMPD2 was added
gene: AMPD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to Novarino et al. (2014); PMID: 24482476
Phenotypes for gene: AMPD2 were set to Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809)
Adult onset neurodegenerative disorder v0.2 ALS2 Rebecca Foulger Added phenotypes 607225 for gene: ALS2
Adult onset neurodegenerative disorder v0.2 ALS2 Rebecca Foulger gene: ALS2 was added
gene: ALS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALS2 were set to 12145748; 23881933; 25474699; 24503148
Phenotypes for gene: ALS2 were set to Spastic paralysis, infantile onset ascending, 607225; Amyotrophic Lateral Sclerosis, Recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353
Adult onset neurodegenerative disorder v0.2 ALDH18A1 Rebecca Foulger gene: ALDH18A1 was added
gene: ALDH18A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9A, autosomal dominant; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; SPG9
Adult onset neurodegenerative disorder v0.2 ALAS2 Rebecca Foulger gene: ALAS2 was added
gene: ALAS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v0.2 AIMP1 Rebecca Foulger gene: AIMP1 was added
gene: AIMP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 21092922
Phenotypes for gene: AIMP1 were set to 260600
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger Added phenotypes Dystonia for gene: AFG3L2
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger Added phenotypes Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive for gene: AFG3L2
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger gene: AFG3L2 was added
gene: AFG3L2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive
Adult onset neurodegenerative disorder v0.2 ADCY5 Rebecca Foulger Added phenotypes Familial dyskinesia 606703 for gene: ADCY5
Adult onset neurodegenerative disorder v0.2 ADCY5 Rebecca Foulger gene: ADCY5 was added
gene: ADCY5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to dystonia; Dyskinesia, familial, with facial myokymia, 606703
Adult onset neurodegenerative disorder v0.2 ADAR Rebecca Foulger Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Adult onset neurodegenerative disorder v0.2 ADAR Rebecca Foulger gene: ADAR was added
gene: ADAR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 28139822; 25243380
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010; dystonia
Adult onset neurodegenerative disorder v0.2 ACTB Rebecca Foulger gene: ACTB was added
gene: ACTB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ACTB was set to Unknown
Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Adult onset neurodegenerative disorder v0.2 ABHD12 Rebecca Foulger gene: ABHD12 was added
gene: ABHD12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Adult onset neurodegenerative disorder v0.2 ABCB7 Rebecca Foulger gene: ABCB7 was added
gene: ABCB7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia,; Sideroblastic Anemia and Ataxia
Adult onset neurodegenerative disorder v0.2 AARS Rebecca Foulger gene: AARS was added
gene: AARS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v0.2 AAAS Rebecca Foulger gene: AAAS was added
gene: AAAS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.80 FDXR Sarah Leigh Marked gene: FDXR as ready
Mitochondrial disorders v1.80 FDXR Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Mitochondrial disorders v1.80 FDXR Sarah Leigh Gene: fdxr has been classified as Green List (High Evidence).
Mitochondrial disorders v1.80 FDXR Sarah Leigh Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM#617717 to Auditory neuropathy and optic atrophy 617717
Hereditary ataxia with onset in adulthood v0.5 TBP Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: TBP.
Tag currently-ngs-unreportable tag was added to gene: TBP.
Hereditary ataxia with onset in adulthood v0.5 PPP2R2B Eleanor Williams Tag watchlist tag was added to gene: PPP2R2B.
Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B.
Tag currently-ngs-unreportable tag was added to gene: PPP2R2B.
Hereditary ataxia with onset in adulthood v0.5 NOP56 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: NOP56.
Tag currently-ngs-unreportable tag was added to gene: NOP56.
Mitochondrial disorders v1.79 FDXR Sarah Leigh Classified gene: FDXR as Green List (high evidence)
Mitochondrial disorders v1.79 FDXR Sarah Leigh Gene: fdxr has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.5 DAB1 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: DAB1.
Tag founder-effect tag was added to gene: DAB1.
Tag currently-ngs-unreportable tag was added to gene: DAB1.
Hereditary ataxia with onset in adulthood v0.5 BEAN1 Eleanor Williams Tag structural-variant tag was added to gene: BEAN1.
Hereditary ataxia with onset in adulthood v0.5 BEAN1 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: BEAN1.
Tag currently-ngs-unreportable tag was added to gene: BEAN1.
Hereditary ataxia with onset in adulthood v0.5 ATXN8 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN8.
Tag currently-ngs-unreportable tag was added to gene: ATXN8.
Hereditary ataxia with onset in adulthood v0.5 ATXN7 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN7.
Tag currently-ngs-unreportable tag was added to gene: ATXN7.
Hereditary ataxia with onset in adulthood v0.5 ATXN3 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN3.
Tag currently-ngs-unreportable tag was added to gene: ATXN3.
Hereditary ataxia with onset in adulthood v0.5 ATXN2 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN2.
Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Hereditary ataxia with onset in adulthood v0.5 ATXN1 Eleanor Williams Tag currently-ngs-unreportable tag was added to gene: ATXN1.
Hereditary ataxia with onset in adulthood v0.5 ATN1 Eleanor Williams Tag currently-ngs-unreportable tag was added to gene: ATN1.
Hereditary ataxia with onset in adulthood v0.5 ATXN10 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN10.
Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Hereditary ataxia with onset in adulthood v0.5 ATXN1 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATXN1.
Hereditary ataxia with onset in adulthood v0.5 ATN1 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: ATN1.
Hereditary ataxia with onset in adulthood v0.5 VAMP1 Eleanor Williams Tag watchlist tag was added to gene: VAMP1.
Hereditary ataxia with onset in adulthood v0.5 SAR1B Eleanor Williams Tag treatable tag was added to gene: SAR1B.
Hereditary ataxia with onset in adulthood v0.5 MARS2 Eleanor Williams Tag cnv tag was added to gene: MARS2.
Tag gene-duplication tag was added to gene: MARS2.
Hereditary ataxia with onset in adulthood v0.5 FXN Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Hereditary ataxia with onset in adulthood v0.5 FMR1 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: FMR1.
Hereditary ataxia with onset in adulthood v0.5 CACNA1A Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: CACNA1A.
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Marked gene: C1QBP as ready
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases.
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Gene: c1qbp has been classified as Green List (High Evidence).
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Classified gene: C1QBP as Green List (high evidence)
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Gene: c1qbp has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.3 PROSC Ellen McDonagh Classified gene: PROSC as No list
Early onset or syndromic epilepsy v1.3 PROSC Ellen McDonagh Added comment: Comment on list classification: Demoting from Green to Grey, as this gene is represented by PLPBP in this panel: https://panelapp.genomicsengland.co.uk/panels/402/gene/PLPBP/.
Early onset or syndromic epilepsy v1.3 PROSC Ellen McDonagh Gene: prosc has been removed from the panel.
Early onset or syndromic epilepsy v1.2 PLPBP Ellen McDonagh commented on gene: PLPBP
Hereditary spastic paraplegia v1.128 IBA57 Rebecca Foulger Classified gene: IBA57 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.128 IBA57 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber: Gene added and rated Red by Chris Buxton (Bristol NHS) based on 1 family in PMID:25609768. 2 additional families in PMID:30258207 (2018) but phenotype is variable and 2 Jewish brothers with same compound het variants have different symptoms. Therefore rated Amber awaiting clinical feedback.
Hereditary spastic paraplegia v1.128 IBA57 Rebecca Foulger Gene: iba57 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.127 IBA57 Rebecca Foulger Phenotypes for gene: IBA57 were changed from spastic paraplegia to ?Spastic paraplegia 74, autosomal recessive, 616451
Hereditary spastic paraplegia v1.126 IBA57 Rebecca Foulger Publications for gene: IBA57 were set to 25609768
Hereditary spastic paraplegia v1.125 IBA57 Rebecca Foulger commented on gene: IBA57: PMID:30258207 (Hamanaka et al, 2018) performed whole-exome sequencing in 2 unrelated families (Sepharadi Jewish and Japanese) with leukodystrophy. The 29-year-old Sepharadi Jewish male had clinically asymptomatic leukodystrophy. His 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age when he developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter. Therefore HSP symptoms amongst the individuals but phenotypes are very varied.
Hereditary spastic paraplegia v1.125 IBA57 Rebecca Foulger commented on gene: IBA57
Hereditary spastic paraplegia v1.125 GCH1 Rebecca Foulger Classified gene: GCH1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.125 GCH1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber awaiting feedback from clinical team. 2 literature cases of HSP phenotype in PMIDs:24509643,21935284 both of which involved previous misdiagnosis of DRD/cerebral palsy.
Hereditary spastic paraplegia v1.125 GCH1 Rebecca Foulger Gene: gch1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.124 GCH1 Rebecca Foulger commented on gene: GCH1: PMID:21935284 (Lee et al. 2011) report a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GCH1 in a patient with dopa-responsive dystonia (DRD) that had previously been mis-diagnosed as cerbral palsy.
Hereditary spastic paraplegia v1.124 GCH1 Rebecca Foulger commented on gene: GCH1
Hereditary spastic paraplegia v1.124 GCH1 Rebecca Foulger Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary spastic paraplegia v1.123 GCH1 Rebecca Foulger Phenotypes for gene: GCH1 were changed from Dystonia; Spastic paraplegia; progressive spastic paraplegia; dopa-responsive dystonia (DRD) to Dystonia; Spastic paraplegia; progressive spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
Hereditary spastic paraplegia v1.122 GCH1 Rebecca Foulger Phenotypes for gene: GCH1 were changed from Dystonia; Spastic paraplegia to Dystonia; Spastic paraplegia; progressive spastic paraplegia; dopa-responsive dystonia (DRD)
Hereditary spastic paraplegia v1.121 FARS2 Rebecca Foulger Classified gene: FARS2 as Green List (high evidence)
Hereditary spastic paraplegia v1.121 FARS2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Gene added and rated green by Chris Buxton (Bristol NHS). At least 4 unrelated cases of FARS2 variants causing autosomal recessive HSP in the literature (PMIDs 30250868,26553276,25851414,29126765) plus functional support.
Hereditary spastic paraplegia v1.121 FARS2 Rebecca Foulger Gene: fars2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger commented on gene: FARS2: In 2 unrelated patients with mitochondrial dysfunction and spastic paraplegia, Vantroys et al. (2017, PMID:29126765) identified compound heterozygous variants in the FARS2 gene: (c.1082C-T, NM_006567.4, P361L) in both probands, combined with A154V in proband 1, and a 3-bp deletion (c.521_523delTGG) in proband 2.
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger commented on gene: FARS2: In 2 sibs with mitochondrial dysfunction and spastic paraplegia, Vernon et al. (2015, PMID:25851414) identified compound het variants in the FARS2 gene: a paternally inherited R419C and a maternally inherited 116-kb interstitial deletion including all of exon 6 and parts of introns 5 and 6.
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger commented on gene: FARS2: In 4 sibs, born of consanguineous Chinese parents, with AR spastic paraplegia, Yang et al. (2016, PMID:26553276) identified a homozygous transversion (c.424G-T, NM_006567.3) in the FARS2 gene (D142Y).
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger commented on gene: FARS2
Hereditary spastic paraplegia v1.120 FARS2 Rebecca Foulger Publications for gene: FARS2 were set to 30250868; 26553276; 29126765
Hereditary spastic paraplegia v1.119 FARS2 Rebecca Foulger Phenotypes for gene: FARS2 were changed from spastic paraplegia to Spastic paraplegia 77, autosomal recessive, 617046
Hereditary spastic paraplegia v1.118 FARS2 Rebecca Foulger Publications for gene: FARS2 were set to
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger commented on gene: MAG: Added watchlist tag.
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Tag watchlist tag was added to gene: MAG.
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Classified gene: MAG as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber: Gene added and rated red by Chris Buxton (Bristol NHS) based on 1 family in PMID:24482476. One additional family reported in PMID:26179919 but require at least one further case for diagnostic rating.
Hereditary spastic paraplegia v1.117 MAG Rebecca Foulger Gene: mag has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.116 MAG Rebecca Foulger commented on gene: MAG: In 3 siblings with AR spastic paraplegia born of consanguineous Palestinian parents, Lossos et al. (2015, PMID:26179919) identified a homozygous c.399C-G transversion in the MAG gene (S133R).
Hereditary spastic paraplegia v1.116 MAG Rebecca Foulger commented on gene: MAG
Hereditary spastic paraplegia v1.116 MAG Rebecca Foulger Phenotypes for gene: MAG were changed from spastic paprplegia to Spastic paraplegia 75, autosomal recessive, 616680
Hereditary spastic paraplegia v1.115 MAG Rebecca Foulger Publications for gene: MAG were set to
Intellectual disability v2.587 KCNQ3 Konstantinos Varvagiannis reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24851285, 24375629, 25524373, 23934111, 28135719; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.587 STAT1 Konstantinos Varvagiannis reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27114460; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.587 TCF20 Konstantinos Varvagiannis reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 27436265, 25228304, 28135719, 27479843, 28333917, 28554332; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary systemic amyloidosis v0.1 Louise Daugherty Panel name changed from Amyloidosis with no identifiable cause to Amyloidosis
Intellectual disability v2.587 MED23 Konstantinos Varvagiannis reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.587 MED23 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.587 MED23 Konstantinos Varvagiannis reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v0.5 Louise Daugherty List of related panels changed from Childhood onset hereditary spastic paraplegia; GMS R61 to Childhood onset hereditary spastic paraplegia
Hereditary ataxia with onset in adulthood v0.4 Louise Daugherty List of related panels changed from Hereditary ataxia with onset in adulthood; GMS R54 to Hereditary ataxia with onset in adulthood
Likely inborn error of metabolism v0.9 Louise Daugherty List of related panels changed from Likely inborn error of metabolism - targeted testing not possible; GMS R98 to Likely inborn error of metabolism - targeted testing not possible
Paediatric disorders v0.9 Louise Daugherty List of related panels changed from Acutely unwell children with a likely monogenic disorder; GMS R14; Congenital malformation and dysmorphism syndromes - microarray and sequencing; GMS R27 to Acutely unwell children with a likely monogenic disorder; Congenital malformation and dysmorphism syndromes - microarray and sequencing
Cystic renal disease v0.9 Louise Daugherty List of related panels changed from Cystic renal disease - PKD1; GMS R193 to Cystic renal disease - PKD1
Hereditary ataxia and cerebellar anomalies - childhood onset v0.6 Louise Daugherty List of related panels changed from Hereditary ataxia with onset in childhood; GMS R55; Cerebellar anomalies; GMS R84 to Hereditary ataxia with onset in childhood; Cerebellar anomalies
Hypotonic infant v0.9 Louise Daugherty List of related panels changed from Floppy infant with a likely central cause; GMS R69 to Floppy infant with a likely central cause
Cerebral malformation v0.8 Louise Daugherty List of related panels changed from Cerebral malformation; GMS R87 to Cerebral malformation
DDG2P v0.20 Rebecca Foulger Panel status changed from internal to public
Childhood onset leukodystrophy v0.8 Louise Daugherty List of related panels changed from Childhood onset leukodystrophy; GMS R109 to Childhood onset leukodystrophy
Severe microcephaly v1.44 Louise Daugherty List of related panels changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly; GMS R88 to Primary Microcephaly - Microcephalic Dwarfism Spectrum; Severe microcephaly
Hydrocephalus v1.27 Louise Daugherty List of related panels changed from Hydrocephalus; GMS R86 to Hydrocephalus
Intellectual disability v2.587 Louise Daugherty List of related panels changed from Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability – microarray; fragile X and sequencing; GMS R29 to Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability – microarray; fragile X and sequencing
Holoprosencephaly - NOT chromosomal v1.10 Louise Daugherty List of related panels changed from Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal; GMS R85 to Rhombencephalosynapsis; Holoprosencephaly - NOT chromosomal
Other rare neuromuscular disorders v0.21 Louise Daugherty List of related panels changed from Other rare neuromuscular disorders; GMS R381 to Other rare neuromuscular disorders
Neonatal diabetes v1.11 Louise Daugherty List of related panels changed from Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months; GMS R143 to Neonatal diabetes (diagnosed less than 6 months); Neonatal diabetes; Neonatal diabetes diagnosed <6 months
Skeletal dysplasia v1.137 Louise Daugherty List of related panels changed from Unexplained skeletal dysplasia; Skeletal dysplasia; GMS R104 to Unexplained skeletal dysplasia; Skeletal dysplasia
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.44 Louise Daugherty List of related panels changed from Craniosynostosis syndromes; Craniosynostosis syndromes phenotypes; Rare syndromic craniosynostosis or isolated multisuture synostosis; GMS R100 to Craniosynostosis syndromes; Craniosynostosis syndromes phenotypes; Rare syndromic craniosynostosis or isolated multisuture synostosis
Likely inborn error of metabolism v0.7 GALNT12 Ellen McDonagh Mode of inheritance for gene: GALNT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.584 ATP8B1 Konstantinos Varvagiannis Deleted their comment
Intellectual disability v2.584 ATP8B1 Konstantinos Varvagiannis commented on gene: ATP8B1: I could not find any evidence that ATP8B1 deficiency is associated with DD/ID.

Kinsley et al. (2014 - PMID: 20301474) review the spectrum of the disorder. DD/ID is not among the features and not mentioned among extrahepatic manifestations. The only possibly relevant complication is vitamin E deficiency which can lead to neurologic manifestations (but not of this type).

Bull and Thompson (2018 - PMID: 30266155) also provide a review. DD/ID is not a feature, nor is it included in extrahepatic manifestations.

This was similarly the case in a previous review on PFIC1 by Paulusma et al. (2010 - PMID: 20422494).

The only potentially relevant article (Li et al. - PMID: 26382629) comments on the possibility of congenital hypothyroidism which seemed to be the case for 3 of 13 patients with ATP8B1 deficiency (2 further out of 13 had sub-clinical hypothyroidism). For the 3 individuals with primary hypothyroidism TSH and free thyroxine measurements were available at the ages of 2, 0 and 3 months. Among these patients however, one did not show biparental inheritance of the ATP8B1 variants as expected (both of maternal origin). For the 2 patients with subclinical hypothyroidism TSH was measured at the ages of 3 and 16 months. The authors suggest that congenital hypoparathyroidism - which in turn may affect cognitive development - may be a manifestation of ATP8B1 deficiency and as a result thyroid function should be monitored in these patients. [However testing for congenital hypothyroidism is commonly part of the newborn screening].

The ATP8B1-related phenotypes in OMIM include the following:
- Cholestasis, benign recurrent intrahepatic, MIM 243300 (AR)
- Cholestasis, intrahepatic, of pregnancy, 1, MIM 147480 (AD)
- Cholestasis, progressive familial intrahepatic 1, MIM 211600 (AR)

In G2P this gene is included in the DD panel, associated with ATP8B1-Related intrahepatic cholestasis.

ATP8B1 is not commonly included in gene panels for intellectual disability although this seems to be the case for few laboratories.

As a result, this gene could possibly be demoted to red.
Intellectual disability v2.584 ATP8B1 Konstantinos Varvagiannis reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: 20301474, 30266155, 20422494, 26382629; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.584 ACAN Konstantinos Varvagiannis reviewed gene: ACAN: Rating: RED; Mode of pathogenicity: None; Publications: 27353333, 29464738, 27870580, 19110214, 11389160; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v0.4 ISCA-37440-Loss Ellen McDonagh Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 18234729; 11524703; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to hyperphagia; lactic acidemia; mild/moderate mental retardation; Hypotonia-cystinuria syndrome (HCS); 606407; failure to thrive; nephrolithiasis; rapid weight gain in late childhood; minor facial dysmorphism; growth hormone deficiency; facial dysmorphism; respiratory chain complex IV deficiency; cystinuria; neonatal seizures; 2p21 deletion syndrome; hypotonia; severe somatic and developmental delay
Likely inborn error of metabolism v0.4 WARS2 Ellen McDonagh gene: WARS2 was added
gene: WARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: WARS2 was set to Unknown
Phenotypes for gene: WARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 VPS13C Ellen McDonagh gene: VPS13C was added
gene: VPS13C was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: VPS13C was set to Unknown
Likely inborn error of metabolism v0.4 UQCRH Ellen McDonagh gene: UQCRH was added
gene: UQCRH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: UQCRH was set to Unknown
Phenotypes for gene: UQCRH were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 UQCRFS1 Ellen McDonagh gene: UQCRFS1 was added
gene: UQCRFS1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: UQCRFS1 was set to Unknown
Phenotypes for gene: UQCRFS1 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 UQCRC2 Ellen McDonagh gene: UQCRC2 was added
gene: UQCRC2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: UQCRC2 was set to Unknown
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160; Isolated complex III deficiency
Likely inborn error of metabolism v0.4 UQCRC1 Ellen McDonagh gene: UQCRC1 was added
gene: UQCRC1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: UQCRC1 was set to Unknown
Phenotypes for gene: UQCRC1 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 UQCC3 Ellen McDonagh gene: UQCC3 was added
gene: UQCC3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: UQCC3 was set to Unknown
Phenotypes for gene: UQCC3 were set to ?Mitochondrial complex III deficiency, nuclear type, 616111; Isolated complex III deficiency
Likely inborn error of metabolism v0.4 UQCC2 Ellen McDonagh gene: UQCC2 was added
gene: UQCC2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: UQCC2 was set to Unknown
Phenotypes for gene: UQCC2 were set to Isolated complex III deficiency
Likely inborn error of metabolism v0.4 TRMT10C Ellen McDonagh gene: TRMT10C was added
gene: TRMT10C was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TRMT10C was set to Unknown
Phenotypes for gene: TRMT10C were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 TRIT1 Ellen McDonagh gene: TRIT1 was added
gene: TRIT1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TRIT1 was set to Unknown
Phenotypes for gene: TRIT1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype
Likely inborn error of metabolism v0.4 TRAP1 Ellen McDonagh gene: TRAP1 was added
gene: TRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TRAP1 was set to Unknown
Publications for gene: TRAP1 were set to PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL.
Likely inborn error of metabolism v0.4 TIMM44 Ellen McDonagh gene: TIMM44 was added
gene: TIMM44 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TIMM44 was set to Unknown
Phenotypes for gene: TIMM44 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 SRRT Ellen McDonagh gene: SRRT was added
gene: SRRT was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SRRT was set to Unknown
Phenotypes for gene: SRRT were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 SLC25A42 Ellen McDonagh gene: SLC25A42 was added
gene: SLC25A42 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC25A42 was set to Unknown
Likely inborn error of metabolism v0.4 SLC25A40 Ellen McDonagh gene: SLC25A40 was added
gene: SLC25A40 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC25A40 was set to Unknown
Likely inborn error of metabolism v0.4 SFXN4 Ellen McDonagh gene: SFXN4 was added
gene: SFXN4 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SFXN4 was set to Unknown
Likely inborn error of metabolism v0.4 RTN4IP1 Ellen McDonagh gene: RTN4IP1 was added
gene: RTN4IP1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: RTN4IP1 was set to Unknown
Likely inborn error of metabolism v0.4 QRSL1 Ellen McDonagh gene: QRSL1 was added
gene: QRSL1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: QRSL1 was set to Unknown
Phenotypes for gene: QRSL1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 QARS Ellen McDonagh gene: QARS was added
gene: QARS was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: QARS was set to Unknown
Phenotypes for gene: QARS were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 PTCD1 Ellen McDonagh gene: PTCD1 was added
gene: PTCD1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PTCD1 was set to Unknown
Phenotypes for gene: PTCD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 POP1 Ellen McDonagh gene: POP1 was added
gene: POP1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: POP1 was set to Unknown
Likely inborn error of metabolism v0.4 PNPLA8 Ellen McDonagh gene: PNPLA8 was added
gene: PNPLA8 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA8 was set to Unknown
Likely inborn error of metabolism v0.4 PNPLA4 Ellen McDonagh gene: PNPLA4 was added
gene: PNPLA4 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA4 was set to Unknown
Likely inborn error of metabolism v0.4 OXA1L Ellen McDonagh gene: OXA1L was added
gene: OXA1L was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: OXA1L was set to Unknown
Phenotypes for gene: OXA1L were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 NNT Ellen McDonagh gene: NNT was added
gene: NNT was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NNT was set to Unknown
Likely inborn error of metabolism v0.4 NFS1 Ellen McDonagh gene: NFS1 was added
gene: NFS1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NFS1 was set to Unknown
Phenotypes for gene: NFS1 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 NDUFS5 Ellen McDonagh gene: NDUFS5 was added
gene: NDUFS5 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFS5 was set to Unknown
Phenotypes for gene: NDUFS5 were set to Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFC2 Ellen McDonagh gene: NDUFC2 was added
gene: NDUFC2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFC2 was set to Unknown
Phenotypes for gene: NDUFC2 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFC1 Ellen McDonagh gene: NDUFC1 was added
gene: NDUFC1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFC1 was set to Unknown
Phenotypes for gene: NDUFC1 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFB8 Ellen McDonagh gene: NDUFB8 was added
gene: NDUFB8 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB8 was set to Unknown
Phenotypes for gene: NDUFB8 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFB7 Ellen McDonagh gene: NDUFB7 was added
gene: NDUFB7 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB7 was set to Unknown
Phenotypes for gene: NDUFB7 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFB6 Ellen McDonagh gene: NDUFB6 was added
gene: NDUFB6 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB6 was set to Unknown
Phenotypes for gene: NDUFB6 were set to Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFB5 Ellen McDonagh gene: NDUFB5 was added
gene: NDUFB5 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB5 was set to Unknown
Phenotypes for gene: NDUFB5 were set to Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFB4 Ellen McDonagh gene: NDUFB4 was added
gene: NDUFB4 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB4 was set to Unknown
Phenotypes for gene: NDUFB4 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFB2 Ellen McDonagh gene: NDUFB2 was added
gene: NDUFB2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB2 was set to Unknown
Phenotypes for gene: NDUFB2 were set to Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFB10 Ellen McDonagh gene: NDUFB10 was added
gene: NDUFB10 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB10 was set to Unknown
Phenotypes for gene: NDUFB10 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFB1 Ellen McDonagh gene: NDUFB1 was added
gene: NDUFB1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFB1 was set to Unknown
Phenotypes for gene: NDUFB1 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFAB1 Ellen McDonagh gene: NDUFAB1 was added
gene: NDUFAB1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFAB1 was set to Unknown
Phenotypes for gene: NDUFAB1 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA8 Ellen McDonagh gene: NDUFA8 was added
gene: NDUFA8 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA8 was set to Unknown
Phenotypes for gene: NDUFA8 were set to Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA7 Ellen McDonagh gene: NDUFA7 was added
gene: NDUFA7 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA7 was set to Unknown
Phenotypes for gene: NDUFA7 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA6 Ellen McDonagh gene: NDUFA6 was added
gene: NDUFA6 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA6 was set to Unknown
Phenotypes for gene: NDUFA6 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA5 Ellen McDonagh gene: NDUFA5 was added
gene: NDUFA5 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA5 was set to Unknown
Phenotypes for gene: NDUFA5 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA4 Ellen McDonagh gene: NDUFA4 was added
gene: NDUFA4 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFA4 was set to Unknown
Publications for gene: NDUFA4 were set to PMID: 23746447
Phenotypes for gene: NDUFA4 were set to Isolated complex IV deficiency; No OMIM phenotype
Likely inborn error of metabolism v0.4 NDUFA3 Ellen McDonagh gene: NDUFA3 was added
gene: NDUFA3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA3 was set to Unknown
Phenotypes for gene: NDUFA3 were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NAXE Ellen McDonagh gene: NAXE was added
gene: NAXE was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NAXE was set to Unknown
Likely inborn error of metabolism v0.4 NADK2 Ellen McDonagh gene: NADK2 was added
gene: NADK2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NADK2 was set to Unknown
Likely inborn error of metabolism v0.4 MRPS7 Ellen McDonagh gene: MRPS7 was added
gene: MRPS7 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MRPS7 was set to Unknown
Phenotypes for gene: MRPS7 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 MRPS2 Ellen McDonagh gene: MRPS2 was added
gene: MRPS2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MRPS2 was set to Unknown
Phenotypes for gene: MRPS2 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 MRPL44 Ellen McDonagh gene: MRPL44 was added
gene: MRPL44 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MRPL44 was set to Unknown
Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 MRPL40 Ellen McDonagh gene: MRPL40 was added
gene: MRPL40 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MRPL40 was set to Unknown
Phenotypes for gene: MRPL40 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 MRPL12 Ellen McDonagh gene: MRPL12 was added
gene: MRPL12 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MRPL12 was set to Unknown
Phenotypes for gene: MRPL12 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype
Likely inborn error of metabolism v0.4 MPC1 Ellen McDonagh gene: MPC1 was added
gene: MPC1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MPC1 was set to Unknown
Phenotypes for gene: MPC1 were set to Mitochondrial pyruvate carrier deficiency, 614741
Likely inborn error of metabolism v0.4 MICU1 Ellen McDonagh gene: MICU1 was added
gene: MICU1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MICU1 was set to Unknown
Likely inborn error of metabolism v0.4 MECR Ellen McDonagh gene: MECR was added
gene: MECR was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MECR was set to Unknown
Likely inborn error of metabolism v0.4 LYRM7 Ellen McDonagh gene: LYRM7 was added
gene: LYRM7 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LYRM7 was set to Unknown
Phenotypes for gene: LYRM7 were set to Isolated complex III deficiency
Likely inborn error of metabolism v0.4 LYRM4 Ellen McDonagh gene: LYRM4 was added
gene: LYRM4 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LYRM4 was set to Unknown
Phenotypes for gene: LYRM4 were set to ?Combined oxidative phosphorylation deficiency 19, 615595
Likely inborn error of metabolism v0.4 LETM1 Ellen McDonagh gene: LETM1 was added
gene: LETM1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LETM1 was set to Unknown
Phenotypes for gene: LETM1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 LARS Ellen McDonagh gene: LARS was added
gene: LARS was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LARS was set to Unknown
Likely inborn error of metabolism v0.4 LACTB Ellen McDonagh gene: LACTB was added
gene: LACTB was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LACTB was set to Unknown
Phenotypes for gene: LACTB were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 IDH3B Ellen McDonagh gene: IDH3B was added
gene: IDH3B was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: IDH3B was set to Unknown
Likely inborn error of metabolism v0.4 GFM2 Ellen McDonagh gene: GFM2 was added
gene: GFM2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GFM2 was set to Unknown
Phenotypes for gene: GFM2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 GATC Ellen McDonagh gene: GATC was added
gene: GATC was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GATC was set to Unknown
Phenotypes for gene: GATC were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 GATB Ellen McDonagh gene: GATB was added
gene: GATB was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GATB was set to Unknown
Phenotypes for gene: GATB were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 ERCC6L2 Ellen McDonagh gene: ERCC6L2 was added
gene: ERCC6L2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6L2 was set to Unknown
Likely inborn error of metabolism v0.4 ECSIT Ellen McDonagh gene: ECSIT was added
gene: ECSIT was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ECSIT was set to Unknown
Phenotypes for gene: ECSIT were set to No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 DTD1 Ellen McDonagh gene: DTD1 was added
gene: DTD1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DTD1 was set to Unknown
Likely inborn error of metabolism v0.4 DNM2 Ellen McDonagh gene: DNM2 was added
gene: DNM2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DNM2 was set to Unknown
Phenotypes for gene: DNM2 were set to Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism v0.4 COX7C Ellen McDonagh gene: COX7C was added
gene: COX7C was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX7C was set to Unknown
Phenotypes for gene: COX7C were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 COX7B2 Ellen McDonagh gene: COX7B2 was added
gene: COX7B2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX7B2 was set to Unknown
Phenotypes for gene: COX7B2 were set to ?{Nasopharyngeal carcinoma, susceptibility to}, 607107
Likely inborn error of metabolism v0.4 COX7A2 Ellen McDonagh gene: COX7A2 was added
gene: COX7A2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX7A2 was set to Unknown
Phenotypes for gene: COX7A2 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 COX7A1 Ellen McDonagh gene: COX7A1 was added
gene: COX7A1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX7A1 was set to Unknown
Phenotypes for gene: COX7A1 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 COX6C Ellen McDonagh gene: COX6C was added
gene: COX6C was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX6C was set to Unknown
Phenotypes for gene: COX6C were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 COX5B Ellen McDonagh gene: COX5B was added
gene: COX5B was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX5B was set to Unknown
Phenotypes for gene: COX5B were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 COX5A Ellen McDonagh gene: COX5A was added
gene: COX5A was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX5A was set to Unknown
Phenotypes for gene: COX5A were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 COX4I1 Ellen McDonagh gene: COX4I1 was added
gene: COX4I1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX4I1 was set to Unknown
Phenotypes for gene: COX4I1 were set to Mitochondrial Diseases; No OMIM phenotype
Likely inborn error of metabolism v0.4 COA1 Ellen McDonagh gene: COA1 was added
gene: COA1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COA1 was set to Unknown
Phenotypes for gene: COA1 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 BOLA2 Ellen McDonagh gene: BOLA2 was added
gene: BOLA2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: BOLA2 was set to Unknown
Phenotypes for gene: BOLA2 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 BOLA1 Ellen McDonagh gene: BOLA1 was added
gene: BOLA1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: BOLA1 was set to Unknown
Phenotypes for gene: BOLA1 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 ALDH1B1 Ellen McDonagh gene: ALDH1B1 was added
gene: ALDH1B1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ALDH1B1 was set to Unknown
Phenotypes for gene: ALDH1B1 were set to No OMIM phenotype; Succinic semialdehyde dehydrogenase deficiency
Likely inborn error of metabolism v0.4 WDR45 Ellen McDonagh gene: WDR45 was added
gene: WDR45 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 27604308
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5
Likely inborn error of metabolism v0.4 STS Ellen McDonagh gene: STS was added
gene: STS was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: STS 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: STS were set to 27604308
Phenotypes for gene: STS were set to X-linked ichthyosis (Other disorders in the metabolism of sterols); Autosomal recessive congenital ichthyosis
Likely inborn error of metabolism v0.4 SLC35A2 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIm 300896 for gene: SLC35A2
Publications for gene SLC35A2 were changed from 27604308 to 27743886; 25778940; 23561849
Likely inborn error of metabolism v0.4 SLC35A2 Ellen McDonagh gene: SLC35A2 was added
gene: SLC35A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC35A2 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: SLC35A2 were set to 27604308
Phenotypes for gene: SLC35A2 were set to Intellectual disability; SLC35A2-CDG (other congenital disorders of glycosylation)
Likely inborn error of metabolism v0.4 PRPS1 Ellen McDonagh gene: PRPS1 was added
gene: PRPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PRPS1 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: PRPS1 were set to 27604308
Phenotypes for gene: PRPS1 were set to Intellectual disability; Charcot-Marie-Tooth disease; Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism); Congenital hearing impairment (profound/severe); Intellectual_disability
Likely inborn error of metabolism v0.4 PDK3 Ellen McDonagh Added phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905; Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK3
Publications for gene PDK3 were changed from to 27604308
Likely inborn error of metabolism v0.4 PDK3 Ellen McDonagh gene: PDK3 was added
gene: PDK3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDK3 were set to ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905
Likely inborn error of metabolism v0.4 PDHA1 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-alpha deficiency, 312170; Leigh syndrome, X-linked, 308930 for gene: PDHA1
Publications for gene PDHA1 were changed from to 27604308
Likely inborn error of metabolism v0.4 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDHA1 were set to Leigh syndrome, X-linked, 308930; Pyruvate dehydrogenase E1-alpha deficiency, 312170
Likely inborn error of metabolism v0.4 OTC Ellen McDonagh gene: OTC was added
gene: OTC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OTC 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: OTC were set to 27604308
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250; Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism v0.4 NSDHL Ellen McDonagh gene: NSDHL was added
gene: NSDHL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NSDHL 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: NSDHL were set to 27604308
Phenotypes for gene: NSDHL were set to Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis); CHILD syndrome 308050 XLD; CK syndrome 300831 XLR
Likely inborn error of metabolism v0.4 NDUFB11 Ellen McDonagh Added phenotypes histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies 3; Isolated complex I deficiency for gene: NDUFB11
Likely inborn error of metabolism v0.4 NDUFB11 Ellen McDonagh gene: NDUFB11 was added
gene: NDUFB11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies 3; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LAMP2 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: LAMP2 were set to 27604308
Phenotypes for gene: LAMP2 were set to Danon disease
Likely inborn error of metabolism v0.4 HSD17B10 Ellen McDonagh gene: HSD17B10 was added
gene: HSD17B10 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: HSD17B10 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: HSD17B10 were set to 27604308
Phenotypes for gene: HSD17B10 were set to Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability
Likely inborn error of metabolism v0.4 HCCS Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies 1; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Microphthalmia, syndromic 7, 309801 for gene: HCCS
Publications for gene HCCS were changed from to 27604308
Likely inborn error of metabolism v0.4 HCCS Ellen McDonagh gene: HCCS was added
gene: HCCS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1; Microphthalmia, syndromic 7, 309801
Likely inborn error of metabolism v0.4 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLA 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: GLA were set to 27604308
Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry Disease; Fabry disease (Sphingolipidoses); Fabry disease, 301500
Likely inborn error of metabolism v0.4 GK Ellen McDonagh gene: GK was added
gene: GK was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: GK 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: GK were set to 27604308
Phenotypes for gene: GK were set to Glycerol kinase deficiency (Disorders of glycerol metabolism); Intellectual disability; Intellectual_disability
Likely inborn error of metabolism v0.4 EBP Ellen McDonagh gene: EBP was added
gene: EBP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EBP 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: EBP were set to 27604308
Phenotypes for gene: EBP were set to MEND syndrome 300960 XLR; Chondrodysplasia punctata, X-linked dominant 302960 XLD; X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
Likely inborn error of metabolism v0.4 COX7B Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS for gene: COX7B
Publications for gene COX7B were changed from to 27604308
Likely inborn error of metabolism v0.4 COX7B Ellen McDonagh gene: COX7B was added
gene: COX7B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies; Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Likely inborn error of metabolism v0.4 ALG13 Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 36 300884; ALG13-CDG (Disorders of protein N-glycosylation) for gene: ALG13
Publications for gene ALG13 were changed from 27604308 to 27604308; 25732998; 22492991
Likely inborn error of metabolism v0.4 ALG13 Ellen McDonagh gene: ALG13 was added
gene: ALG13 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ALG13 were set to 27604308
Phenotypes for gene: ALG13 were set to Intellectual disability; Epileptic encephalopathy; ALG13-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 ALAS2 Ellen McDonagh gene: ALAS2 was added
gene: ALAS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ALAS2 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: ALAS2 were set to 27604308
Phenotypes for gene: ALAS2 were set to Erythropoietic protoporphyria, mild variant; X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity); X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)
Likely inborn error of metabolism v0.4 ABCD1 Ellen McDonagh gene: ABCD1 was added
gene: ABCD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCD1 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: ABCD1 were set to 27604308
Phenotypes for gene: ABCD1 were set to X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation); Adrenoleukodystrophy 300100
Likely inborn error of metabolism v0.4 ABCB7 Ellen McDonagh Added phenotypes Disorders of iron homeostasis; congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: ABCB7
Publications for gene ABCB7 were changed from PMID: 26242992; 17192398; 22398176 to 27604308
Likely inborn error of metabolism v0.4 ABCB7 Ellen McDonagh gene: ABCB7 was added
gene: ABCB7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCB7 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: ABCB7 were set to PMID: 26242992; 17192398; 22398176
Phenotypes for gene: ABCB7 were set to congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Disorders of iron homeostasis
Likely inborn error of metabolism v0.4 TIMM8A Ellen McDonagh Added phenotypes Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Deafness, X-linked 1, progressive for gene: TIMM8A
Publications for gene TIMM8A were changed from to 27604308
Likely inborn error of metabolism v0.4 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Deafness, X-linked 1, progressive
Likely inborn error of metabolism v0.4 TAZ Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Barth syndrome, 302060; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Disorders of mitochondrial lipid metabolism for gene: TAZ
Publications for gene TAZ were changed from to 27604308
Likely inborn error of metabolism v0.4 TAZ Ellen McDonagh gene: TAZ was added
gene: TAZ was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060; Disorders of mitochondrial lipid metabolism
Likely inborn error of metabolism v0.4 SSR4 Ellen McDonagh Added phenotypes ?Congenital disorder of glycosylation, type Iy 300934 for gene: SSR4
Likely inborn error of metabolism v0.4 SSR4 Ellen McDonagh gene: SSR4 was added
gene: SSR4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SSR4 were set to 26264460
Phenotypes for gene: SSR4 were set to ?Congenital disorder of glycosylation, type Iy 300934
Likely inborn error of metabolism v0.4 SLC6A8 Ellen McDonagh gene: SLC6A8 was added
gene: SLC6A8 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 27604308
Phenotypes for gene: SLC6A8 were set to Intellectual disability; Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
Likely inborn error of metabolism v0.4 RPL10 Ellen McDonagh gene: RPL10 was added
gene: RPL10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPL10 were set to 25316788
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Likely inborn error of metabolism v0.4 PIGA Ellen McDonagh Added phenotypes PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 for gene: PIGA
Publications for gene PIGA were changed from 25885527 to 27604308
Likely inborn error of metabolism v0.4 PIGA Ellen McDonagh gene: PIGA was added
gene: PIGA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIGA were set to 25885527
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868; PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Likely inborn error of metabolism v0.4 PHKA2 Ellen McDonagh gene: PHKA2 was added
gene: PHKA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHKA2 were set to 27604308
Phenotypes for gene: PHKA2 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease, type IXa2, 306000; Glycogen storage disease, type IXa1, 306000; hepatomegaly and mild hypoglycaemia; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)
Likely inborn error of metabolism v0.4 PHKA1 Ellen McDonagh gene: PHKA1 was added
gene: PHKA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHKA1 were set to 27604308
Likely inborn error of metabolism v0.4 PGK1 Ellen McDonagh gene: PGK1 was added
gene: PGK1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGK1 were set to 27604308
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency
Likely inborn error of metabolism v0.4 OCRL Ellen McDonagh gene: OCRL was added
gene: OCRL was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OCRL were set to 27604308
Phenotypes for gene: OCRL were set to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts
Likely inborn error of metabolism v0.4 MAOA Ellen McDonagh gene: MAOA was added
gene: MAOA was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAOA were set to 27604308
Phenotypes for gene: MAOA were set to Brunner syndrome
Likely inborn error of metabolism v0.4 MAGT1 Ellen McDonagh Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) for gene: MAGT1
Publications for gene MAGT1 were changed from 27604308 to 27604308; 27393411
Likely inborn error of metabolism v0.4 MAGT1 Ellen McDonagh gene: MAGT1 was added
gene: MAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 27604308
Phenotypes for gene: MAGT1 were set to Combined B and T cell defect; IAP-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 IDS Ellen McDonagh gene: IDS was added
gene: IDS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 27604308
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2; MPS II, Hunter disease (Mucopolysaccharidoses); Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II
Likely inborn error of metabolism v0.4 HPRT1 Ellen McDonagh gene: HPRT1 was added
gene: HPRT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HPRT1 were set to 27604308
Phenotypes for gene: HPRT1 were set to HPRT-related gout
Likely inborn error of metabolism v0.4 HCFC1 Ellen McDonagh gene: HCFC1 was added
gene: HCFC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Likely inborn error of metabolism v0.4 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease
Likely inborn error of metabolism v0.4 ATP6AP1 Ellen McDonagh Added phenotypes Immunodeficiency 47 for gene: ATP6AP1
Publications for gene ATP6AP1 were changed from to 27231034
Likely inborn error of metabolism v0.4 ATP6AP1 Ellen McDonagh gene: ATP6AP1 was added
gene: ATP6AP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47
Likely inborn error of metabolism v0.4 ARSE Ellen McDonagh gene: ARSE was added
gene: ARSE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive 302950
Likely inborn error of metabolism v0.4 AIFM1 Ellen McDonagh Added phenotypes Disorders of mitochondrial apoptosis; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816 for gene: AIFM1
Publications for gene AIFM1 were changed from PMID: 20362274 (two related males); PMID: 23217327 to 27604308
Likely inborn error of metabolism v0.4 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327
Phenotypes for gene: AIFM1 were set to Disorders of mitochondrial apoptosis; Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816
Likely inborn error of metabolism v0.4 USF1 Ellen McDonagh gene: USF1 was added
gene: USF1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: USF1 was set to Unknown
Publications for gene: USF1 were set to 27604308
Phenotypes for gene: USF1 were set to Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias)
Likely inborn error of metabolism v0.4 TREH Ellen McDonagh gene: TREH was added
gene: TREH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TREH was set to Unknown
Publications for gene: TREH were set to 27604308
Phenotypes for gene: TREH were set to Trehalase deficiency (Other carbohydrate disorders)
Likely inborn error of metabolism v0.4 TDO2 Ellen McDonagh gene: TDO2 was added
gene: TDO2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TDO2 was set to Unknown
Publications for gene: TDO2 were set to 27604308
Phenotypes for gene: TDO2 were set to No OMIM number; Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism v0.4 TARS2 Ellen McDonagh gene: TARS2 was added
gene: TARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TARS2 was set to Unknown
Publications for gene: TARS2 were set to PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither.
Phenotypes for gene: TARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 21, 615918
Likely inborn error of metabolism v0.4 SUCLG2 Ellen McDonagh Added phenotypes No OMIM phenotype for gene: SUCLG2
Likely inborn error of metabolism v0.4 SUCLG2 Ellen McDonagh gene: SUCLG2 was added
gene: SUCLG2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SUCLG2 was set to Unknown
Publications for gene: SUCLG2 were set to 27604308
Phenotypes for gene: SUCLG2 were set to Succinyl-CoA synthetase deficiency (Other metabolic disorders)
Likely inborn error of metabolism v0.4 SLC25A2 Ellen McDonagh gene: SLC25A2 was added
gene: SLC25A2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC25A2 was set to Unknown
Publications for gene: SLC25A2 were set to 27604308
Phenotypes for gene: SLC25A2 were set to Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Likely inborn error of metabolism v0.4 SLC22A4 Ellen McDonagh gene: SLC22A4 was added
gene: SLC22A4 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC22A4 was set to Unknown
Publications for gene: SLC22A4 were set to 24816252
Likely inborn error of metabolism v0.4 PTPRZ1 Ellen McDonagh gene: PTPRZ1 was added
gene: PTPRZ1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PTPRZ1 was set to Unknown
Publications for gene: PTPRZ1 were set to 27604308
Phenotypes for gene: PTPRZ1 were set to Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism); {H. pylori infection, susceptibility to} 600263
Likely inborn error of metabolism v0.4 PPM1K Ellen McDonagh gene: PPM1K was added
gene: PPM1K was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PPM1K was set to Unknown
Phenotypes for gene: PPM1K were set to ?Maple syrup urine disease, mild variant 615135
Likely inborn error of metabolism v0.4 PHKG1 Ellen McDonagh gene: PHKG1 was added
gene: PHKG1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PHKG1 was set to Unknown
Likely inborn error of metabolism v0.4 PEX11A Ellen McDonagh gene: PEX11A was added
gene: PEX11A was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PEX11A was set to Unknown
Publications for gene: PEX11A were set to 25177298; 10716247; 25608554; 11839773
Phenotypes for gene: PEX11A were set to Zellweger syndrome; peroxisome proliferation; mild peroxisomal biogenesis defect
Likely inborn error of metabolism v0.4 PDXK Ellen McDonagh gene: PDXK was added
gene: PDXK was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDXK was set to Unknown
Publications for gene: PDXK were set to 27604308
Phenotypes for gene: PDXK were set to Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism)
Likely inborn error of metabolism v0.4 PDK4 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK4
Publications for gene PDK4 were changed from to 27604308
Likely inborn error of metabolism v0.4 PDK4 Ellen McDonagh gene: PDK4 was added
gene: PDK4 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDK4 was set to Unknown
Phenotypes for gene: PDK4 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 PDK2 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK2
Publications for gene PDK2 were changed from to 27604308
Likely inborn error of metabolism v0.4 PDK2 Ellen McDonagh gene: PDK2 was added
gene: PDK2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDK2 was set to Unknown
Phenotypes for gene: PDK2 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 PDK1 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK1
Publications for gene PDK1 were changed from to 27604308
Likely inborn error of metabolism v0.4 PDK1 Ellen McDonagh gene: PDK1 was added
gene: PDK1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDK1 was set to Unknown
Phenotypes for gene: PDK1 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 OGDH Ellen McDonagh Added phenotypes Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) for gene: OGDH
Likely inborn error of metabolism v0.4 OGDH Ellen McDonagh gene: OGDH was added
gene: OGDH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: OGDH was set to Unknown
Publications for gene: OGDH were set to 27604308
Phenotypes for gene: OGDH were set to 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740
Likely inborn error of metabolism v0.4 NT5C Ellen McDonagh gene: NT5C was added
gene: NT5C was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NT5C was set to Unknown
Publications for gene: NT5C were set to 27604308
Phenotypes for gene: NT5C were set to Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism v0.4 NDUFV3 Ellen McDonagh gene: NDUFV3 was added
gene: NDUFV3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFV3 was set to Unknown
Phenotypes for gene: NDUFV3 were set to Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 HYKK Ellen McDonagh gene: HYKK was added
gene: HYKK was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: HYKK was set to Unknown
Publications for gene: HYKK were set to 27604308
Phenotypes for gene: HYKK were set to Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism v0.4 GLS Ellen McDonagh Added phenotypes Glucosidase 1 deficiency (Disorders of protein N-glycosylation) for gene: GLS
Likely inborn error of metabolism v0.4 GLS Ellen McDonagh gene: GLS was added
gene: GLS was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GLS was set to Unknown
Publications for gene: GLS were set to 27604308
Phenotypes for gene: GLS were set to Glucosidase 1 deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 GGT1 Ellen McDonagh gene: GGT1 was added
gene: GGT1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GGT1 was set to Unknown
Publications for gene: GGT1 were set to 27604308; 24816252
Phenotypes for gene: GGT1 were set to Gamma-glutamyl transpeptidase deficiency; Glutathionuria (Disorders of the gamma-glutamyl cycle)
Likely inborn error of metabolism v0.4 GALNT12 Ellen McDonagh Mode of inheritance for gene GALNT12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Added phenotypes (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)); GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812 for gene: GALNT12
Likely inborn error of metabolism v0.4 FOLR3 Ellen McDonagh gene: FOLR3 was added
gene: FOLR3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: FOLR3 was set to Unknown
Publications for gene: FOLR3 were set to 8110752
Likely inborn error of metabolism v0.4 FOLR2 Ellen McDonagh gene: FOLR2 was added
gene: FOLR2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: FOLR2 was set to Unknown
Publications for gene: FOLR2 were set to 14711912; 19587340
Likely inborn error of metabolism v0.4 FDX2 Ellen McDonagh gene: FDX2 was added
gene: FDX2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: FDX2 was set to Unknown
Phenotypes for gene: FDX2 were set to No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125
Likely inborn error of metabolism v0.4 FBP2 Ellen McDonagh gene: FBP2 was added
gene: FBP2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: FBP2 was set to Unknown
Phenotypes for gene: FBP2 were set to isolated lactic acidosis
Likely inborn error of metabolism v0.4 DPEP1 Ellen McDonagh gene: DPEP1 was added
gene: DPEP1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DPEP1 was set to Unknown
Publications for gene: DPEP1 were set to 27604308
Phenotypes for gene: DPEP1 were set to Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle)
Likely inborn error of metabolism v0.4 DMGDH Ellen McDonagh gene: DMGDH was added
gene: DMGDH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DMGDH was set to Unknown
Publications for gene: DMGDH were set to 27604308; 18937046 - functional study expressing the variant form in E.coli showed a decrease in activity; 11231903 - case study
Phenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency 605850; Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
Likely inborn error of metabolism v0.4 DLST Ellen McDonagh Added phenotypes No OMIM phenotype?Familial Alzheimer disease for gene: DLST
Likely inborn error of metabolism v0.4 DLST Ellen McDonagh gene: DLST was added
gene: DLST was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DLST was set to Unknown
Publications for gene: DLST were set to 27604308; 12805207; 1943690
Likely inborn error of metabolism v0.4 DHFR2 Ellen McDonagh gene: DHFR2 was added
gene: DHFR2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DHFR2 was set to Unknown
Publications for gene: DHFR2 were set to 21876184
Likely inborn error of metabolism v0.4 CNDP1 Ellen McDonagh gene: CNDP1 was added
gene: CNDP1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CNDP1 was set to Unknown
Publications for gene: CNDP1 were set to 27604308
Phenotypes for gene: CNDP1 were set to Carnosinaemia (Other disorders of peptide metabolism)
Likely inborn error of metabolism v0.4 CLPS Ellen McDonagh gene: CLPS was added
gene: CLPS was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CLPS was set to Unknown
Publications for gene: CLPS were set to 27604308
Phenotypes for gene: CLPS were set to Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism)
Likely inborn error of metabolism v0.4 CD320 Ellen McDonagh gene: CD320 was added
gene: CD320 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CD320 was set to Unknown
Publications for gene: CD320 were set to 27604308; 20524213
Phenotypes for gene: CD320 were set to Methylmalonic aciduria due to transcobalamin receptor defect
Likely inborn error of metabolism v0.4 BCAT2 Ellen McDonagh gene: BCAT2 was added
gene: BCAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: BCAT2 was set to Unknown
Publications for gene: BCAT2 were set to 27604308
Phenotypes for gene: BCAT2 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Likely inborn error of metabolism v0.4 BCAT1 Ellen McDonagh gene: BCAT1 was added
gene: BCAT1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: BCAT1 was set to Unknown
Publications for gene: BCAT1 were set to 27604308
Phenotypes for gene: BCAT1 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Likely inborn error of metabolism v0.4 ATP5O Ellen McDonagh gene: ATP5O was added
gene: ATP5O was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5O was set to Unknown
Phenotypes for gene: ATP5O were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 ATP5J Ellen McDonagh gene: ATP5J was added
gene: ATP5J was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5J was set to Unknown
Phenotypes for gene: ATP5J were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 ATP5I Ellen McDonagh gene: ATP5I was added
gene: ATP5I was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5I was set to Unknown
Phenotypes for gene: ATP5I were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 ATP5G3 Ellen McDonagh gene: ATP5G3 was added
gene: ATP5G3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5G3 was set to Unknown
Phenotypes for gene: ATP5G3 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 ATP5G2 Ellen McDonagh gene: ATP5G2 was added
gene: ATP5G2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5G2 was set to Unknown
Phenotypes for gene: ATP5G2 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 ATP5G1 Ellen McDonagh gene: ATP5G1 was added
gene: ATP5G1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5G1 was set to Unknown
Phenotypes for gene: ATP5G1 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 ATP5E Ellen McDonagh Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 for gene: ATP5E
Publications for gene ATP5E were changed from 27604308 to PMID: 20566710
Likely inborn error of metabolism v0.4 ATP5E Ellen McDonagh gene: ATP5E was added
gene: ATP5E was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5E was set to Unknown
Publications for gene: ATP5E were set to 27604308
Phenotypes for gene: ATP5E were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism v0.4 ATP5C1 Ellen McDonagh gene: ATP5C1 was added
gene: ATP5C1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5C1 was set to Unknown
Phenotypes for gene: ATP5C1 were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 ATP5B Ellen McDonagh gene: ATP5B was added
gene: ATP5B was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5B was set to Unknown
Phenotypes for gene: ATP5B were set to No OMIM phenotype
Likely inborn error of metabolism v0.4 ATAD3B Ellen McDonagh gene: ATAD3B was added
gene: ATAD3B was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATAD3B was set to Unknown
Phenotypes for gene: ATAD3B were set to Influence on AIDS progression; No OMIM phenotype
Likely inborn error of metabolism v0.4 ARSG Ellen McDonagh gene: ARSG was added
gene: ARSG was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ARSG was set to Unknown
Publications for gene: ARSG were set to 26975023; 20679209; 25452429
Phenotypes for gene: ARSG were set to neuronal ceroid lipofuscinosis
Likely inborn error of metabolism v0.4 AOX1 Ellen McDonagh gene: AOX1 was added
gene: AOX1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: AOX1 was set to Unknown
Publications for gene: AOX1 were set to 27604308
Phenotypes for gene: AOX1 were set to Xanthinuria type II (Disorders of purine metabolism)
Likely inborn error of metabolism v0.4 ABCG2 Ellen McDonagh gene: ABCG2 was added
gene: ABCG2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ABCG2 was set to Unknown
Publications for gene: ABCG2 were set to 27604308
Phenotypes for gene: ABCG2 were set to Primary idiopathic gout (Disorders of purine metabolism); [Junior blood group system] 614490; [Uric acid concentration, serum, QTL1] 138900
Likely inborn error of metabolism v0.4 C1GALT1C1 Ellen McDonagh Mode of inheritance for gene C1GALT1C1 was changed from Other - please specifiy in evaluation comments to Other - please specify in evaluation comments
Added phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tn polyagglutination syndrome, somatic 300622 for gene: C1GALT1C1
Publications for gene C1GALT1C1 were changed from 27604308 to 27604308; 19778426; 27536663
Likely inborn error of metabolism v0.4 C1GALT1C1 Ellen McDonagh gene: C1GALT1C1 was added
gene: C1GALT1C1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: C1GALT1C1 was set to Other - please specifiy in evaluation comments
Publications for gene: C1GALT1C1 were set to 27604308
Phenotypes for gene: C1GALT1C1 were set to Tn polyagglutination syndrome, somatic
Likely inborn error of metabolism v0.4 UMOD Ellen McDonagh gene: UMOD was added
gene: UMOD was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UMOD were set to 27604308
Phenotypes for gene: UMOD were set to Cystic kidney disease; Unexplained kidney failure in young people; Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
Likely inborn error of metabolism v0.4 SPTLC2 Ellen McDonagh gene: SPTLC2 was added
gene: SPTLC2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to 27604308
Phenotypes for gene: SPTLC2 were set to Charcot-Marie-Tooth disease; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis); Familial dysautonomia
Likely inborn error of metabolism v0.4 SLC52A1 Ellen McDonagh gene: SLC52A1 was added
gene: SLC52A1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC52A1 were set to 21089064
Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency 615026
Likely inborn error of metabolism v0.4 SLC40A1 Ellen McDonagh gene: SLC40A1 was added
gene: SLC40A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC40A1 were set to 27604308; 11518736; 11431687; 10471458
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069 (Disorder of iron metabolism); Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)
Likely inborn error of metabolism v0.4 SDHC Ellen McDonagh Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHC
Likely inborn error of metabolism v0.4 SDHC Ellen McDonagh gene: SDHC was added
gene: SDHC was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SDHC were set to 27604308
Phenotypes for gene: SDHC were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours
Likely inborn error of metabolism v0.4 PRKAG2 Ellen McDonagh gene: PRKAG2 was added
gene: PRKAG2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 194200
Likely inborn error of metabolism v0.4 PCSK9 Ellen McDonagh gene: PCSK9 was added
gene: PCSK9 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PCSK9 were set to 27604308
Phenotypes for gene: PCSK9 were set to Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias)
Likely inborn error of metabolism v0.4 LIPI Ellen McDonagh gene: LIPI was added
gene: LIPI was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LIPI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LIPI were set to 27604308
Phenotypes for gene: LIPI were set to {Hypertriglyceridemia, susceptibility to}, 145750; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
Likely inborn error of metabolism v0.4 LDLR Ellen McDonagh gene: LDLR was added
gene: LDLR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDLR were set to 27604308
Phenotypes for gene: LDLR were set to Familial hypercholesterolaemia; Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias)
Likely inborn error of metabolism v0.4 HMBS Ellen McDonagh gene: HMBS was added
gene: HMBS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMBS were set to 27604308
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000
Likely inborn error of metabolism v0.4 HAL Ellen McDonagh gene: HAL was added
gene: HAL was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: HAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HAL were set to 27604308
Phenotypes for gene: HAL were set to Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism v0.4 GLUD1 Ellen McDonagh Added phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 for gene: GLUD1
Likely inborn error of metabolism v0.4 GLUD1 Ellen McDonagh gene: GLUD1 was added
gene: GLUD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLUD1 were set to 27604308
Phenotypes for gene: GLUD1 were set to Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias); Hyperinsulinism-hyperammonemia syndrome, 606762
Likely inborn error of metabolism v0.4 GARS Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, type 2D; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Neuropathy, distal hereditary motor, type VA for gene: GARS
Likely inborn error of metabolism v0.4 GARS Ellen McDonagh gene: GARS was added
gene: GARS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GARS were set to Charcot-Marie-Tooth disease, type 2D; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Neuropathy, distal hereditary motor, type VA
Likely inborn error of metabolism v0.4 GALNT12 Ellen McDonagh gene: GALNT12 was added
gene: GALNT12 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GALNT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GALNT12 were set to 27604308
Phenotypes for gene: GALNT12 were set to GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812
Likely inborn error of metabolism v0.4 GABRG2 Ellen McDonagh gene: GABRG2 was added
gene: GABRG2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642
Phenotypes for gene: GABRG2 were set to Febrile seizures, familial, 8 611277; Epilepsy, generalized, with febrile seizures plus, type 3 611277; {Epilepsy, childhood absence, susceptibility to, 2} 607681
Likely inborn error of metabolism v0.4 DNAJC5 Ellen McDonagh gene: DNAJC5 was added
gene: DNAJC5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC5 were set to 27604308; 21820099
Likely inborn error of metabolism v0.4 DNA2 Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6; 615156; Disorders of mitochondrial DNA maintenance and integrity for gene: DNA2
Likely inborn error of metabolism v0.4 DNA2 Ellen McDonagh gene: DNA2 was added
gene: DNA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6; 615156; Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism v0.4 CYCS Ellen McDonagh gene: CYCS was added
gene: CYCS was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYCS were set to 24326104; PMID: 18345000
Phenotypes for gene: CYCS were set to Thrombocytopenia 4, 612004
Likely inborn error of metabolism v0.4 CHCHD10 Ellen McDonagh Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type for gene: CHCHD10
Likely inborn error of metabolism v0.4 CHCHD10 Ellen McDonagh gene: CHCHD10 was added
gene: CHCHD10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHCHD10 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type
Likely inborn error of metabolism v0.4 CETP Ellen McDonagh gene: CETP was added
gene: CETP was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CETP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CETP were set to 27604308
Phenotypes for gene: CETP were set to [High density lipoprotein cholesterol level QTL 10] 143470; Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism); Hyperalphalipoproteinemia 143470
Likely inborn error of metabolism v0.4 ATXN7 Ellen McDonagh gene: ATXN7 was added
gene: ATXN7 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATXN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN7 were set to 27604308
Phenotypes for gene: ATXN7 were set to Spinocerebellar ataxia 7 164500; Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 APOB Ellen McDonagh gene: APOB was added
gene: APOB was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOB were set to 27604308
Phenotypes for gene: APOB were set to Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia
Likely inborn error of metabolism v0.4 UROD Ellen McDonagh gene: UROD was added
gene: UROD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UROD were set to 27604308
Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Likely inborn error of metabolism v0.4 TM6SF2 Ellen McDonagh gene: TM6SF2 was added
gene: TM6SF2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TM6SF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TM6SF2 were set to 28235613
Phenotypes for gene: TM6SF2 were set to non-alcoholic fatty liver disease
Likely inborn error of metabolism v0.4 SLC25A4 Ellen McDonagh Added phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 for gene: SLC25A4
Likely inborn error of metabolism v0.4 SLC25A4 Ellen McDonagh gene: SLC25A4 was added
gene: SLC25A4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A4 were set to 27604308
Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial protein transport; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
Likely inborn error of metabolism v0.4 SDHAF2 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHAF2
Likely inborn error of metabolism v0.4 SDHAF2 Ellen McDonagh gene: SDHAF2 was added
gene: SDHAF2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SDHAF2 were set to 27604308
Phenotypes for gene: SDHAF2 were set to Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism v0.4 RANBP2 Ellen McDonagh gene: RANBP2 was added
gene: RANBP2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RANBP2 were set to 27604308
Phenotypes for gene: RANBP2 were set to Acute necrotizing encephalopathy (Other metabolic disorders)
Likely inborn error of metabolism v0.4 POLG2 Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions for gene: POLG2
Publications for gene POLG2 were changed from to 27604308
Likely inborn error of metabolism v0.4 POLG2 Ellen McDonagh gene: POLG2 was added
gene: POLG2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131; Disorders of mitochondrial DNA maintenance and integrity; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Likely inborn error of metabolism v0.4 IDH2 Ellen McDonagh gene: IDH2 was added
gene: IDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH2 were set to 24049096; 20847235
Phenotypes for gene: IDH2 were set to Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2, 613657
Likely inborn error of metabolism v0.4 FXYD2 Ellen McDonagh gene: FXYD2 was added
gene: FXYD2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FXYD2 were set to 27604308
Phenotypes for gene: FXYD2 were set to Hypomagnesemia 2, renal 154020; Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism)
Likely inborn error of metabolism v0.4 MT-TY Ellen McDonagh gene: MT-TY was added
gene: MT-TY was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TW Ellen McDonagh gene: MT-TW was added
gene: MT-TW was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TV Ellen McDonagh gene: MT-TV was added
gene: MT-TV was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TT Ellen McDonagh gene: MT-TT was added
gene: MT-TT was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TS2 Ellen McDonagh gene: MT-TS2 was added
gene: MT-TS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TS1 Ellen McDonagh gene: MT-TS1 was added
gene: MT-TS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TR Ellen McDonagh gene: MT-TR was added
gene: MT-TR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TQ Ellen McDonagh gene: MT-TQ was added
gene: MT-TQ was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TP Ellen McDonagh gene: MT-TP was added
gene: MT-TP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TN Ellen McDonagh gene: MT-TN was added
gene: MT-TN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TM Ellen McDonagh gene: MT-TM was added
gene: MT-TM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TL2 Ellen McDonagh gene: MT-TL2 was added
gene: MT-TL2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TK Ellen McDonagh gene: MT-TK was added
gene: MT-TK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TI Ellen McDonagh gene: MT-TI was added
gene: MT-TI was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TH Ellen McDonagh gene: MT-TH was added
gene: MT-TH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TG Ellen McDonagh gene: MT-TG was added
gene: MT-TG was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TF Ellen McDonagh gene: MT-TF was added
gene: MT-TF was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TE Ellen McDonagh Added phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; DIABETES AND DEAFNESS, MATERNALLY INHERITED; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT for gene: MT-TE
Likely inborn error of metabolism v0.4 MT-TE Ellen McDonagh gene: MT-TE was added
gene: MT-TE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Phenotypes for gene: MT-TE were set to MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; DIABETES AND DEAFNESS, MATERNALLY INHERITED; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
Likely inborn error of metabolism v0.4 MT-TD Ellen McDonagh Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
Likely inborn error of metabolism v0.4 MT-TD Ellen McDonagh gene: MT-TD was added
gene: MT-TD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL
Phenotypes for gene: MT-TD were set to MITOCHONDRIAL MYOPATHY, ISOLATED
Likely inborn error of metabolism v0.4 MT-TC Ellen McDonagh Added phenotypes MELAS SYNDROME; DYSTONIA, MITOCHONDRIAL for gene: MT-TC
Likely inborn error of metabolism v0.4 MT-TC Ellen McDonagh gene: MT-TC was added
gene: MT-TC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Phenotypes for gene: MT-TC were set to MELAS SYNDROME; DYSTONIA, MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-TA Ellen McDonagh Added phenotypes MITOCHONDRIAL MYOPATHY; MYOTONIC DYSTROPHY-LIKE MYOPATHY for gene: MT-TA
Likely inborn error of metabolism v0.4 MT-TA Ellen McDonagh gene: MT-TA was added
gene: MT-TA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Phenotypes for gene: MT-TA were set to MITOCHONDRIAL MYOPATHY; MYOTONIC DYSTROPHY-LIKE MYOPATHY
Likely inborn error of metabolism v0.4 MT-RNR2 Ellen McDonagh gene: MT-RNR2 was added
gene: MT-RNR2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-RNR1 Ellen McDonagh Added phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; AUDITORY NEUROPATHY; CARDIOMYOPATHY, RESTRICTIVE for gene: MT-RNR1
Likely inborn error of metabolism v0.4 MT-RNR1 Ellen McDonagh gene: MT-RNR1 was added
gene: MT-RNR1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to DEAFNESS, AMINOGLYCOSIDE-INDUCED; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; AUDITORY NEUROPATHY; CARDIOMYOPATHY, RESTRICTIVE
Likely inborn error of metabolism v0.4 MT-ND6 Ellen McDonagh Added phenotypes LEBER OPTIC ATROPHY AND DYSTONIA; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND6
Likely inborn error of metabolism v0.4 MT-ND6 Ellen McDonagh gene: MT-ND6 was added
gene: MT-ND6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to LEBER OPTIC ATROPHY AND DYSTONIA; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Likely inborn error of metabolism v0.4 MT-ND5 Ellen McDonagh Added phenotypes MELAS SYNDROME; MERRF SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND5
Likely inborn error of metabolism v0.4 MT-ND5 Ellen McDonagh gene: MT-ND5 was added
gene: MT-ND5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND5 were set to MELAS SYNDROME; MERRF SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Likely inborn error of metabolism v0.4 MT-ND4L Ellen McDonagh Added phenotypes LEBER OPTIC ATROPHY for gene: MT-ND4L
Likely inborn error of metabolism v0.4 MT-ND4L Ellen McDonagh gene: MT-ND4L was added
gene: MT-ND4L was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4L were set to LEBER OPTIC ATROPHY
Likely inborn error of metabolism v0.4 MT-ND4 Ellen McDonagh Added phenotypes MELAS SYNDROME; LEBER OPTIC ATROPHY AND DYSTONIA; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND4
Likely inborn error of metabolism v0.4 MT-ND4 Ellen McDonagh gene: MT-ND4 was added
gene: MT-ND4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to MELAS SYNDROME; LEBER OPTIC ATROPHY AND DYSTONIA; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY
Likely inborn error of metabolism v0.4 MT-ND3 Ellen McDonagh Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND3
Likely inborn error of metabolism v0.4 MT-ND3 Ellen McDonagh gene: MT-ND3 was added
gene: MT-ND3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND3 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Likely inborn error of metabolism v0.4 MT-ND2 Ellen McDonagh Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND2
Likely inborn error of metabolism v0.4 MT-ND2 Ellen McDonagh gene: MT-ND2 was added
gene: MT-ND2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND2 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Likely inborn error of metabolism v0.4 MT-ND1 Ellen McDonagh Added phenotypes MELAS SYNDROME; MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; SUDDEN INFANT DEATH SYNDROME; DYSTONIA, ADULT-ONSET; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL for gene: MT-ND1
Likely inborn error of metabolism v0.4 MT-ND1 Ellen McDonagh gene: MT-ND1 was added
gene: MT-ND1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to MELAS SYNDROME; MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; SUDDEN INFANT DEATH SYNDROME; DYSTONIA, ADULT-ONSET; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Likely inborn error of metabolism v0.4 MT-CYB Ellen McDonagh Added phenotypes CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER; EXERCISE INTOLERANCE; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; PARKINSONISM/MELAS OVERLAP SYNDROME; LEBER OPTIC ATROPHY for gene: MT-CYB
Likely inborn error of metabolism v0.4 MT-CYB Ellen McDonagh gene: MT-CYB was added
gene: MT-CYB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Phenotypes for gene: MT-CYB were set to CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER; EXERCISE INTOLERANCE; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; PARKINSONISM/MELAS OVERLAP SYNDROME; LEBER OPTIC ATROPHY
Likely inborn error of metabolism v0.4 MT-CO3 Ellen McDonagh gene: MT-CO3 was added
gene: MT-CO3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY
Likely inborn error of metabolism v0.4 MT-CO2 Ellen McDonagh Added phenotypes CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO2
Likely inborn error of metabolism v0.4 MT-CO2 Ellen McDonagh gene: MT-CO2 was added
gene: MT-CO2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO2 were set to CYTOCHROME c OXIDASE DEFICIENCY
Likely inborn error of metabolism v0.4 MT-CO1 Ellen McDonagh Added phenotypes CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO1
Likely inborn error of metabolism v0.4 MT-CO1 Ellen McDonagh gene: MT-CO1 was added
gene: MT-CO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO1 were set to CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE DEFICIENCY
Likely inborn error of metabolism v0.4 MT-ATP8 Ellen McDonagh Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC for gene: MT-ATP8
Likely inborn error of metabolism v0.4 MT-ATP8 Ellen McDonagh gene: MT-ATP8 was added
gene: MT-ATP8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP8 were set to BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
Likely inborn error of metabolism v0.4 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Likely inborn error of metabolism v0.4 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27604308
Phenotypes for gene: WFS1 were set to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe)
Likely inborn error of metabolism v0.4 TWNK Ellen McDonagh Added phenotypes Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) for gene: TWNK
Likely inborn error of metabolism v0.4 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to 27604308
Phenotypes for gene: TWNK were set to Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic)
Likely inborn error of metabolism v0.4 TREX1 Ellen McDonagh gene: TREX1 was added
gene: TREX1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 27604308
Phenotypes for gene: TREX1 were set to Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders
Likely inborn error of metabolism v0.4 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SPTLC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTLC1 were set to 27604308
Phenotypes for gene: SPTLC1 were set to Charcot-Marie-Tooth disease; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis); Familial dysautonomia
Likely inborn error of metabolism v0.4 SPG7 Ellen McDonagh Added phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity for gene: SPG7
Publications for gene SPG7 were changed from to 27604308
Likely inborn error of metabolism v0.4 SPG7 Ellen McDonagh gene: SPG7 was added
gene: SPG7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism v0.4 SLC6A20 Ellen McDonagh gene: SLC6A20 was added
gene: SLC6A20 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A20 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A20 were set to 24816252; 19033659
Phenotypes for gene: SLC6A20 were set to Hyperglycinuria
Likely inborn error of metabolism v0.4 SLC6A19 Ellen McDonagh gene: SLC6A19 was added
gene: SLC6A19 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424
Phenotypes for gene: SLC6A19 were set to Iminoglycinuria, digenic; Hartnup disorder AD
Likely inborn error of metabolism v0.4 SLC36A2 Ellen McDonagh gene: SLC36A2 was added
gene: SLC36A2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC36A2 were set to 27604308; 19033659
Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic 242600; Hyperglycinuria 138500; Hyperglycinuria AR
Likely inborn error of metabolism v0.4 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 27604308
Phenotypes for gene: SLC2A1 were set to Intellectual disability; Early onset dystonia; Cataracts; Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport); Hereditary ataxia; Epileptic encephalopathy; Familial Genetic Generalised Epilepsies
Likely inborn error of metabolism v0.4 SLC16A1 Ellen McDonagh gene: SLC16A1 was added
gene: SLC16A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC16A1 were set to 26608392; 17701893
Phenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7; mainly ketosis with borderline reduction in glucose
Likely inborn error of metabolism v0.4 SETX Ellen McDonagh gene: SETX was added
gene: SETX was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SETX were set to 27604308
Phenotypes for gene: SETX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease; Hereditary ataxia; Amyotrophic lateral sclerosis/motor neuron disease
Likely inborn error of metabolism v0.4 SEC23B Ellen McDonagh Added phenotypes Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) for gene: SEC23B
Publications for gene SEC23B were changed from 27604308 to 22208203
Likely inborn error of metabolism v0.4 SEC23B Ellen McDonagh gene: SEC23B was added
gene: SEC23B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SEC23B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 27604308
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Likely inborn error of metabolism v0.4 SCARB1 Ellen McDonagh gene: SCARB1 was added
gene: SCARB1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SCARB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCARB1 were set to 27604308
Phenotypes for gene: SCARB1 were set to [High density lipoprotein cholesterol level QTL6] 610762; Scavenger receptor class B type I deficiency (Inherited hypolipidaemias)
Likely inborn error of metabolism v0.4 RYR1 Ellen McDonagh gene: RYR1 was added
gene: RYR1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Rhabdomyolysis and metabolic muscle disorders
Likely inborn error of metabolism v0.4 RRM2B Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (recessive); 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 for gene: RRM2B
Likely inborn error of metabolism v0.4 RRM2B Ellen McDonagh gene: RRM2B was added
gene: RRM2B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 27604308
Phenotypes for gene: RRM2B were set to 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
Likely inborn error of metabolism v0.4 RBP4 Ellen McDonagh gene: RBP4 was added
gene: RBP4 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RBP4 were set to 27604308
Phenotypes for gene: RBP4 were set to Retinol binding protein deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities
Likely inborn error of metabolism v0.4 PPOX Ellen McDonagh gene: PPOX was added
gene: PPOX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PPOX were set to 27604308; 19460837; 9811936
Phenotypes for gene: PPOX were set to Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias)
Likely inborn error of metabolism v0.4 POLG Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia, autosomal dominant, 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive, 258450; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA Depletion Syndrome; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 for gene: POLG
Publications for gene POLG were changed from to 27604308
Likely inborn error of metabolism v0.4 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Progressive external ophthalmoplegia, autosomal dominant, 157640; Progressive external ophthalmoplegia, autosomal recessive, 258450; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA Depletion Syndrome; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
Likely inborn error of metabolism v0.4 OPLAH Ellen McDonagh gene: OPLAH was added
gene: OPLAH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: OPLAH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: OPLAH were set to 27604308
Phenotypes for gene: OPLAH were set to Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005
Likely inborn error of metabolism v0.4 OPA3 Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300; Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) for gene: OPA3
Publications for gene OPA3 were changed from to 27604308
Likely inborn error of metabolism v0.4 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Likely inborn error of metabolism v0.4 MFN2 Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Hereditary motor and sensory neuropathy VI, 601152 for gene: MFN2
Publications for gene MFN2 were changed from to 27604308
Likely inborn error of metabolism v0.4 MFN2 Ellen McDonagh gene: MFN2 was added
gene: MFN2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial DNA maintenance and integrity; Hereditary motor and sensory neuropathy VI, 601152
Likely inborn error of metabolism v0.4 MAT1A Ellen McDonagh gene: MAT1A was added
gene: MAT1A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MAT1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAT1A were set to 27604308
Phenotypes for gene: MAT1A were set to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
Likely inborn error of metabolism v0.4 LPL Ellen McDonagh gene: LPL was added
gene: LPL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LPL were set to 27604308
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600; Combined hyperlipidemia, familial, 144250; Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Likely inborn error of metabolism v0.4 LBR Ellen McDonagh gene: LBR was added
gene: LBR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: LBR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LBR were set to 27604308
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Fetal hydrops
Likely inborn error of metabolism v0.4 HPD Ellen McDonagh gene: HPD was added
gene: HPD was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HPD were set to 27604308
Phenotypes for gene: HPD were set to Intellectual disability; 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)
Likely inborn error of metabolism v0.4 GPHN Ellen McDonagh gene: GPHN was added
gene: GPHN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GPHN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GPHN were set to 27604308
Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C 615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism); epileptic encephalopathy
Likely inborn error of metabolism v0.4 GLRA1 Ellen McDonagh gene: GLRA1 was added
gene: GLRA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400
Likely inborn error of metabolism v0.4 GCH1 Ellen McDonagh gene: GCH1 was added
gene: GCH1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 27604308
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
Likely inborn error of metabolism v0.4 FGFR2 Ellen McDonagh gene: FGFR2 was added
gene: FGFR2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FGFR2 were set to 27604308
Phenotypes for gene: FGFR2 were set to Bilateral microtia; Deafness and congenital structural abnormalities; Craniosynostosis syndromes phenotypes; Arthrogryposis; Choanal atresia; Antley-Bixler syndrome type without disordered steroidogenesis; Unexplained skeletal dysplasia
Likely inborn error of metabolism v0.4 EXT2 Ellen McDonagh Added phenotypes Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); ?Seizures, scoliosis, and macrocephaly syndrome 616682 for gene: EXT2
Publications for gene EXT2 were changed from 27604308 to 12417417
Likely inborn error of metabolism v0.4 EXT2 Ellen McDonagh gene: EXT2 was added
gene: EXT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EXT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EXT2 were set to 27604308
Phenotypes for gene: EXT2 were set to Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 2 133701; ?Seizures, scoliosis, and macrocephaly syndrome 616682
Likely inborn error of metabolism v0.4 DNM1L Ellen McDonagh Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388; Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DNM1L
Publications for gene DNM1L were changed from 17460227; PMID: 26825290 to 27604308
Likely inborn error of metabolism v0.4 DNM1L Ellen McDonagh gene: DNM1L was added
gene: DNM1L was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DNM1L were set to 17460227; PMID: 26825290
Phenotypes for gene: DNM1L were set to Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
Likely inborn error of metabolism v0.4 DHTKD1 Ellen McDonagh Added phenotypes 2-aminoadipic and 2-oxoadipic aciduria, 204750 for gene: DHTKD1
Likely inborn error of metabolism v0.4 DHTKD1 Ellen McDonagh gene: DHTKD1 was added
gene: DHTKD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DHTKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHTKD1 were set to 27604308
Phenotypes for gene: DHTKD1 were set to 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism); 2-aminoadipic and 2-oxoadipic aciduria, 204750; 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism v0.4 CPOX Ellen McDonagh gene: CPOX was added
gene: CPOX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CPOX were set to 27604308
Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias)
Likely inborn error of metabolism v0.4 CNNM2 Ellen McDonagh gene: CNNM2 was added
gene: CNNM2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CNNM2 were set to 27604308
Phenotypes for gene: CNNM2 were set to Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism); Hypomagnesemia 6, renal 613882; Hypomagnesemia, seizures, and mental retardation 616418
Likely inborn error of metabolism v0.4 CAT Ellen McDonagh gene: CAT was added
gene: CAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CAT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CAT were set to 27604308
Phenotypes for gene: CAT were set to Acatalasaemia (Other peroxisomal disorders); Acatalasemia, 614097
Likely inborn error of metabolism v0.4 ATP8B1 Ellen McDonagh gene: ATP8B1 was added
gene: ATP8B1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP8B1 were set to 27604308
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 211600; Cholestasis, benign recurrent intrahepatic 243300 AR; Cholestasis, intrahepatic, of pregnancy, 1 147480 AD; Byler disease (Disorders of bile acid metabolism and transport)
Likely inborn error of metabolism v0.4 ATAD3A Ellen McDonagh gene: ATAD3A was added
gene: ATAD3A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome 617183
Likely inborn error of metabolism v0.4 APOE Ellen McDonagh gene: APOE was added
gene: APOE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: APOE were set to 27604308; 24816252
Phenotypes for gene: APOE were set to Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias); Hyperlipoproteinemia, type III 617347; Sea-blue histiocyte disease 269600; Lipoprotein glomerulopathy 611771
Likely inborn error of metabolism v0.4 APOA5 Ellen McDonagh gene: APOA5 was added
gene: APOA5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: APOA5 were set to 27604308
Phenotypes for gene: APOA5 were set to Hyperchylomicronemia, late-onset 144650; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); {Hypertriglyceridemia, susceptibility to} 145750
Likely inborn error of metabolism v0.4 APOA1 Ellen McDonagh gene: APOA1 was added
gene: APOA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: APOA1 were set to 27604308
Phenotypes for gene: APOA1 were set to Corneal clouding, autosomal recessive; Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism); ApoA-I and apoC-III deficiency, combined; Amyloidosis, 3 or more types 105200; Hypoalphalipoproteinemia 604091
Likely inborn error of metabolism v0.4 ADAR Ellen McDonagh gene: ADAR was added
gene: ADAR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 27604308; 12916015; 23001123
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6
Likely inborn error of metabolism v0.4 ABCB4 Ellen McDonagh gene: ABCB4 was added
gene: ABCB4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ABCB4 were set to 27604308
Phenotypes for gene: ABCB4 were set to Gallbladder disease 1 600803 AD, AR; Cholestasis, progressive familial intrahepatic 3 602347 AR; Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport); Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
Likely inborn error of metabolism v0.4 VKORC1 Ellen McDonagh gene: VKORC1 was added
gene: VKORC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to 27604308
Phenotypes for gene: VKORC1 were set to Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors); Inherited bleeding disorders
Likely inborn error of metabolism v0.4 SLC7A9 Ellen McDonagh gene: SLC7A9 was added
gene: SLC7A9 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC7A9 were set to 27604308; 24816252
Phenotypes for gene: SLC7A9 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport)
Likely inborn error of metabolism v0.4 SLC3A1 Ellen McDonagh gene: SLC3A1 was added
gene: SLC3A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC3A1 were set to 27604308
Phenotypes for gene: SLC3A1 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport); Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
Likely inborn error of metabolism v0.4 OPA1 Ellen McDonagh Added phenotypes Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to}, 606657; Disorders of mitochondrial DNA maintenance and integrity; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: OPA1
Publications for gene OPA1 were changed from to 27604308
Likely inborn error of metabolism v0.4 OPA1 Ellen McDonagh gene: OPA1 was added
gene: OPA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to}, 606657; Disorders of mitochondrial DNA maintenance and integrity; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500; Mitochondrial DNA Depletion Syndrome
Likely inborn error of metabolism v0.4 NDUFA1 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA1
Publications for gene NDUFA1 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFA1 Ellen McDonagh gene: NDUFA1 was added
gene: NDUFA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 HSPD1 Ellen McDonagh Added phenotypes Leukodystrophy, hypomyelinating, 4, 612233; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1
Publications for gene HSPD1 were changed from to 27604308
Likely inborn error of metabolism v0.4 HSPD1 Ellen McDonagh gene: HSPD1 was added
gene: HSPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280
Likely inborn error of metabolism v0.4 GDAP1 Ellen McDonagh Added phenotypes Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K for gene: GDAP1
Publications for gene GDAP1 were changed from 11743579 to PMID: 11743579
Likely inborn error of metabolism v0.4 GDAP1 Ellen McDonagh gene: GDAP1 was added
gene: GDAP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 11743579
Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K
Likely inborn error of metabolism v0.4 ALPL Ellen McDonagh gene: ALPL was added
gene: ALPL was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ALPL were set to 27604308
Phenotypes for gene: ALPL were set to Unexplained skeletal dysplasia; Osteogenesis Imperfecta; Craniosynostosis syndromes phenotypes; Hypophosphatasia (Disorders of pyridoxine metabolism)
Likely inborn error of metabolism v0.4 AFG3L2 Ellen McDonagh Added phenotypes Ataxia, spastic, 5, autosomal recessive, 614487; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spinocerebellar ataxia 28, 610246; Disorders of mitochondrial DNA maintenance and integrity for gene: AFG3L2
Publications for gene AFG3L2 were changed from to 27604308
Likely inborn error of metabolism v0.4 AFG3L2 Ellen McDonagh gene: AFG3L2 was added
gene: AFG3L2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246; Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism v0.4 YARS2 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Publications for gene YARS2 were changed from to 27604308
Likely inborn error of metabolism v0.4 YARS2 Ellen McDonagh gene: YARS2 was added
gene: YARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Likely inborn error of metabolism v0.4 XYLT2 Ellen McDonagh Added phenotypes Spondyloocular syndrome for gene: XYLT2
Likely inborn error of metabolism v0.4 XYLT2 Ellen McDonagh gene: XYLT2 was added
gene: XYLT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26987875; 26027496
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome
Likely inborn error of metabolism v0.4 XYLT1 Ellen McDonagh Added phenotypes Desbuquois dysplasia 2 for gene: XYLT1
Likely inborn error of metabolism v0.4 XYLT1 Ellen McDonagh gene: XYLT1 was added
gene: XYLT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT1 were set to 23982343; 24581741
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2
Likely inborn error of metabolism v0.4 XPNPEP3 Ellen McDonagh gene: XPNPEP3 was added
gene: XPNPEP3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to PMID: 20179356
Phenotypes for gene: XPNPEP3 were set to nephronophthisis-like nephropathy
Likely inborn error of metabolism v0.4 XDH Ellen McDonagh gene: XDH was added
gene: XDH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XDH were set to 27604308
Phenotypes for gene: XDH were set to Xanthinuria type II (Disorders of purine metabolism); Xanthinuria type I (Disorders of purine metabolism)
Likely inborn error of metabolism v0.4 VPS33B Ellen McDonagh gene: VPS33B was added
gene: VPS33B was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 27604308
Phenotypes for gene: VPS33B were set to Inherited bleeding disorders; Unexplained kidney failure in young people; CAKUT; ARC Syndrome (Other metabolic disorders); Arthrogryposis
Likely inborn error of metabolism v0.4 VIPAS39 Ellen McDonagh gene: VIPAS39 was added
gene: VIPAS39 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 27604308
Phenotypes for gene: VIPAS39 were set to Inherited bleeding disorders; ARC Syndrome (Other metabolic disorders); Arthrogryposis
Likely inborn error of metabolism v0.4 VARS2 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 20, 615917 for gene: VARS2
Likely inborn error of metabolism v0.4 VARS2 Ellen McDonagh gene: VARS2 was added
gene: VARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 20, 615917
Likely inborn error of metabolism v0.4 UROS Ellen McDonagh gene: UROS was added
gene: UROS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROS were set to 27604308
Phenotypes for gene: UROS were set to Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis); Porphyria, congenital erythropoietic 263700
Likely inborn error of metabolism v0.4 UROC1 Ellen McDonagh gene: UROC1 was added
gene: UROC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROC1 were set to 27604308
Phenotypes for gene: UROC1 were set to Intellectual disability; Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism v0.4 UQCRQ Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159; Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency for gene: UQCRQ
Likely inborn error of metabolism v0.4 UQCRQ Ellen McDonagh gene: UQCRQ was added
gene: UQCRQ was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRQ were set to 27604308
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency
Likely inborn error of metabolism v0.4 UQCRB Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 3 615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: UQCRB
Publications for gene UQCRB were changed from PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study) to 27604308
Likely inborn error of metabolism v0.4 UQCRB Ellen McDonagh gene: UQCRB was added
gene: UQCRB was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRB were set to PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study)
Phenotypes for gene: UQCRB were set to Mitochondrial Diseases; Mitochondrial complex III deficiency, nuclear type 3, 615158; Isolated complex III deficiency
Likely inborn error of metabolism v0.4 UPB1 Ellen McDonagh gene: UPB1 was added
gene: UPB1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UPB1 were set to 27604308
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism); Beta-ureidopropionase deficiency 613161
Likely inborn error of metabolism v0.4 UMPS Ellen McDonagh gene: UMPS was added
gene: UMPS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to 27604308; 9042911
Phenotypes for gene: UMPS were set to Intellectual disability; Orotic aciduria; Orotic aciduria (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism v0.4 UGT1A1 Ellen McDonagh gene: UGT1A1 was added
gene: UGT1A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGT1A1 were set to 27604308; 24816252
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I 218800; Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type II 606785
Likely inborn error of metabolism v0.4 TYMP Ellen McDonagh Added phenotypes Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial Neurogastrointestinal Encephalopathy Disease; Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 for gene: TYMP
Likely inborn error of metabolism v0.4 TYMP Ellen McDonagh gene: TYMP was added
gene: TYMP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to 27604308; 24816252
Phenotypes for gene: TYMP were set to Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism); Mitochondrial Neurogastrointestinal Encephalopathy Disease; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Likely inborn error of metabolism v0.4 TXN2 Ellen McDonagh gene: TXN2 was added
gene: TXN2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXN2 were set to PMID: 26626369
Phenotypes for gene: TXN2 were set to infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy; ?Combined oxidative phosphorylation deficiency 29
Likely inborn error of metabolism v0.4 TUSC3 Ellen McDonagh Added phenotypes TUSC3-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 7 for gene: TUSC3
Publications for gene TUSC3 were changed from 18452889; 18455129; 27148795; 26864433 to 27604308
Likely inborn error of metabolism v0.4 TUSC3 Ellen McDonagh gene: TUSC3 was added
gene: TUSC3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUSC3 were set to 18452889; 18455129; 27148795; 26864433
Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7
Likely inborn error of metabolism v0.4 TUFM Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM
Publications for gene TUFM were changed from to 27604308
Likely inborn error of metabolism v0.4 TUFM Ellen McDonagh gene: TUFM was added
gene: TUFM was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 TTPA Ellen McDonagh gene: TTPA was added
gene: TTPA was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTPA were set to 27604308
Phenotypes for gene: TTPA were set to TTP1 deficiency (Other disorders of vitamins and cofactors); Hereditary ataxia
Likely inborn error of metabolism v0.4 TTC37 Ellen McDonagh gene: TTC37 was added
gene: TTC37 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC37 were set to 27604308
Phenotypes for gene: TTC37 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 1 (Other metabolic disorders)
Likely inborn error of metabolism v0.4 TTC19 Ellen McDonagh Added phenotypes Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 2, 615157 for gene: TTC19
Publications for gene TTC19 were changed from to 27604308
Likely inborn error of metabolism v0.4 TTC19 Ellen McDonagh gene: TTC19 was added
gene: TTC19 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 2, 615157
Likely inborn error of metabolism v0.4 TSFM Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 3 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: TSFM
Publications for gene TSFM were changed from 27604308; 25037205; 17033963 to 27604308
Likely inborn error of metabolism v0.4 TSFM Ellen McDonagh gene: TSFM was added
gene: TSFM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSFM were set to 27604308; 25037205; 17033963
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505
Likely inborn error of metabolism v0.4 TRPM6 Ellen McDonagh gene: TRPM6 was added
gene: TRPM6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM6 were set to 27604308; 23942199; 12032570
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal 602014; Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism)
Likely inborn error of metabolism v0.4 TRNT1 Ellen McDonagh Added phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis for gene: TRNT1
Publications for gene TRNT1 were changed from PMID: 26494905; PMID: 25652405 to 25652405; 26494905
Likely inborn error of metabolism v0.4 TRNT1 Ellen McDonagh gene: TRNT1 was added
gene: TRNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to PMID: 26494905; PMID: 25652405
Phenotypes for gene: TRNT1 were set to congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis
Likely inborn error of metabolism v0.4 TRMU Ellen McDonagh Added phenotypes {Deafness, mitochondrial, modifier of}, 580000; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Liver failure, transient infantile, 613070 for gene: TRMU
Publications for gene TRMU were changed from to 27604308
Likely inborn error of metabolism v0.4 TRMU Ellen McDonagh gene: TRMU was added
gene: TRMU was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to {Deafness, mitochondrial, modifier of}, 580000; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Liver failure, transient infantile, 613070
Likely inborn error of metabolism v0.4 TRMT5 Ellen McDonagh gene: TRMT5 was added
gene: TRMT5 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT5 were set to PMID: 26189817
Phenotypes for gene: TRMT5 were set to Multiple Respiratory-Chain Deficiencies
Likely inborn error of metabolism v0.4 TRIM37 Ellen McDonagh gene: TRIM37 was added
gene: TRIM37 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM37 were set to 27604308
Phenotypes for gene: TRIM37 were set to Mulibrey nanism (Other peroxisomal disorders); Mulibrey nanism
Likely inborn error of metabolism v0.4 TRAPPC11 Ellen McDonagh gene: TRAPPC11 was added
gene: TRAPPC11 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 23830518; 26912795
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S
Likely inborn error of metabolism v0.4 TPP1 Ellen McDonagh gene: TPP1 was added
gene: TPP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP1 were set to 27604308
Phenotypes for gene: TPP1 were set to Intellectual disability; Ceroid lipofuscinosis, neuronal, 2; CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal); Hereditary ataxia
Likely inborn error of metabolism v0.4 TPMT Ellen McDonagh gene: TPMT was added
gene: TPMT was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPMT were set to 27604308
Phenotypes for gene: TPMT were set to Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism); {Thiopurines, poor metabolism of, 1} 610460
Likely inborn error of metabolism v0.4 TPK1 Ellen McDonagh Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Likely inborn error of metabolism v0.4 TPK1 Ellen McDonagh gene: TPK1 was added
gene: TPK1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Likely inborn error of metabolism v0.4 TMEM70 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex V deficiency; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: TMEM70
Publications for gene TMEM70 were changed from to 27604308
Likely inborn error of metabolism v0.4 TMEM70 Ellen McDonagh gene: TMEM70 was added
gene: TMEM70 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Isolated complex V deficiency; Mitochondrial Diseases; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
Likely inborn error of metabolism v0.4 TMEM5 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 for gene: TMEM5
Publications for gene TMEM5 were changed from to 27212206
Likely inborn error of metabolism v0.4 TMEM5 Ellen McDonagh gene: TMEM5 was added
gene: TMEM5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10
Likely inborn error of metabolism v0.4 TMEM199 Ellen McDonagh gene: TMEM199 was added
gene: TMEM199 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM199 were set to 26833330
Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp 616829
Likely inborn error of metabolism v0.4 TMEM165 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIk 614727; CDG2K (other congenital disorders of glycosylation) for gene: TMEM165
Publications for gene TMEM165 were changed from 22683087; 27401145 to 27604308
Likely inborn error of metabolism v0.4 TMEM165 Ellen McDonagh gene: TMEM165 was added
gene: TMEM165 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM165 were set to 22683087; 27401145
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727
Likely inborn error of metabolism v0.4 TMEM126B Ellen McDonagh gene: TMEM126B was added
gene: TMEM126B was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126B were set to 27374774
Phenotypes for gene: TMEM126B were set to Isolated complex I deficiency
Likely inborn error of metabolism v0.4 TMEM126A Ellen McDonagh Added phenotypes Optic atrophy-7, 612989 for gene: TMEM126A
Likely inborn error of metabolism v0.4 TMEM126A Ellen McDonagh gene: TMEM126A was added
gene: TMEM126A was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126A were set to 27604308
Phenotypes for gene: TMEM126A were set to Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Optic atrophy 7; 612989
Likely inborn error of metabolism v0.4 TK2 Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity for gene: TK2
Likely inborn error of metabolism v0.4 TK2 Ellen McDonagh gene: TK2 was added
gene: TK2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TK2 were set to 27604308
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism v0.4 TH Ellen McDonagh gene: TH was added
gene: TH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to 27604308
Phenotypes for gene: TH were set to Intellectual disability; Early onset dystonia; Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines); Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism v0.4 TFR2 Ellen McDonagh gene: TFR2 was added
gene: TFR2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 27604308
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250; Hereditary haemochromatosis Type 3 (Disorder of iron metabolism)
Likely inborn error of metabolism v0.4 TCN2 Ellen McDonagh gene: TCN2 was added
gene: TCN2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 27604308
Phenotypes for gene: TCN2 were set to Congenital neutropaenia; Intellectual disability; A- or hypo-gammaglobulinaemia; Agranulocytosis; Combined B and T cell defect; SCID; Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism)
Likely inborn error of metabolism v0.4 TCN1 Ellen McDonagh gene: TCN1 was added
gene: TCN1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN1 were set to 27604308
Phenotypes for gene: TCN1 were set to Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism); No OMIM number
Likely inborn error of metabolism v0.4 TAT Ellen McDonagh gene: TAT was added
gene: TAT was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAT were set to 27604308
Phenotypes for gene: TAT were set to Intellectual disability; Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism)
Likely inborn error of metabolism v0.4 TANGO2 Ellen McDonagh gene: TANGO2 was added
gene: TANGO2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 26805781
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Likely inborn error of metabolism v0.4 TALDO1 Ellen McDonagh gene: TALDO1 was added
gene: TALDO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TALDO1 were set to 15877206; 26238251; 21119539; 11283793; 17095351; 27604308; 18331807; 23315216
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency
Likely inborn error of metabolism v0.4 TACO1 Ellen McDonagh Added phenotypes Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; ?Mitochondrial complex IV deficiency, 220110; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency for gene: TACO1
Likely inborn error of metabolism v0.4 TACO1 Ellen McDonagh gene: TACO1 was added
gene: TACO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACO1 were set to 27604308
Phenotypes for gene: TACO1 were set to Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism v0.4 SURF1 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Complex IV deficiency; Leigh Syndrome; Isolated complex IV deficiency; Leigh syndrome, due to COX deficiency, 256000; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: SURF1
Publications for gene SURF1 were changed from to 27604308
Likely inborn error of metabolism v0.4 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Mitochondrial Diseases; Complex IV deficiency; Isolated complex IV deficiency; Leigh Syndrome; Leigh syndrome, due to COX deficiency, 256000
Likely inborn error of metabolism v0.4 SUOX Ellen McDonagh gene: SUOX was added
gene: SUOX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 27604308; 27289259; 12112661
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency
Likely inborn error of metabolism v0.4 SUMF1 Ellen McDonagh gene: SUMF1 was added
gene: SUMF1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 27604308
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency
Likely inborn error of metabolism v0.4 SUGCT Ellen McDonagh gene: SUGCT was added
gene: SUGCT was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUGCT were set to 27604308
Phenotypes for gene: SUGCT were set to Glutaric aciduria type III (Organic acidurias); Glutaric aciduria type III 231690
Likely inborn error of metabolism v0.4 SUCLG1 Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SUCLG1
Publications for gene SUCLG1 were changed from to 27604308
Likely inborn error of metabolism v0.4 SUCLG1 Ellen McDonagh gene: SUCLG1 was added
gene: SUCLG1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
Likely inborn error of metabolism v0.4 SUCLA2 Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity for gene: SUCLA2
Likely inborn error of metabolism v0.4 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 27604308
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 STT3B Ellen McDonagh gene: STT3B was added
gene: STT3B was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STT3B were set to ?Congenital disorder of glycosylation, type Ix 615597
Likely inborn error of metabolism v0.4 STT3A Ellen McDonagh gene: STT3A was added
gene: STT3A was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STT3A were set to 23842455
Phenotypes for gene: STT3A were set to ?Congenital disorder of glycosylation, type Iw 615596
Likely inborn error of metabolism v0.4 STAT2 Ellen McDonagh gene: STAT2 was added
gene: STAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAT2 were set to PMID: 26122121
Phenotypes for gene: STAT2 were set to elongated mitochondria; severe neurological deterioration following viral infection
Likely inborn error of metabolism v0.4 ST3GAL5 Ellen McDonagh Added phenotypes Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Salt and pepper developmental regression syndrome 609056 for gene: ST3GAL5
Publications for gene ST3GAL5 were changed from 27604308 to 24026681; 15502825
Likely inborn error of metabolism v0.4 ST3GAL5 Ellen McDonagh gene: ST3GAL5 was added
gene: ST3GAL5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL5 were set to 27604308
Phenotypes for gene: ST3GAL5 were set to Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency (Disorders of complex lipid synthesis)
Likely inborn error of metabolism v0.4 ST3GAL3 Ellen McDonagh Added phenotypes Intellectual disability; ST3GAL3-CDG (Disorders of protein N-glycosylation) for gene: ST3GAL3
Publications for gene ST3GAL3 were changed from 21907012; 23252400 to 27604308
Likely inborn error of metabolism v0.4 ST3GAL3 Ellen McDonagh gene: ST3GAL3 was added
gene: ST3GAL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL3 were set to 21907012; 23252400
Phenotypes for gene: ST3GAL3 were set to Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 SRD5A3 Ellen McDonagh Added phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379 for gene: SRD5A3
Publications for gene SRD5A3 were changed from 27480077 to 27604308
Likely inborn error of metabolism v0.4 SRD5A3 Ellen McDonagh gene: SRD5A3 was added
gene: SRD5A3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 27480077
Phenotypes for gene: SRD5A3 were set to SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379
Likely inborn error of metabolism v0.4 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPR were set to 27604308
Phenotypes for gene: SPR were set to Intellectual disability; Early onset dystonia; Sepiapterin reductase deficiency (Disorders of pterin metabolism); Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism v0.4 SMPD1 Ellen McDonagh gene: SMPD1 was added
gene: SMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD1 were set to 27604308
Likely inborn error of metabolism v0.4 SLCO1B3 Ellen McDonagh gene: SLCO1B3 was added
gene: SLCO1B3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLCO1B3 were set to 22232210
Phenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic
Likely inborn error of metabolism v0.4 SLCO1B1 Ellen McDonagh gene: SLCO1B1 was added
gene: SLCO1B1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLCO1B1 were set to 24816252; 22232210
Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic
Likely inborn error of metabolism v0.4 SLC7A7 Ellen McDonagh gene: SLC7A7 was added
gene: SLC7A7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A7 were set to 27604308
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance (Disorders of amino acid transport); Lysinuric protein intolerance 222700
Likely inborn error of metabolism v0.4 SLC6A3 Ellen McDonagh gene: SLC6A3 was added
gene: SLC6A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A3 were set to 27604308
Phenotypes for gene: SLC6A3 were set to Intellectual disability; Early onset dystonia; Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism); Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism v0.4 SLC5A1 Ellen McDonagh gene: SLC5A1 was added
gene: SLC5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A1 were set to 27604308
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption (Disorders of glucose transport); Glucose/galactose malabsorption 606824 (Disorders of glucose transport)
Likely inborn error of metabolism v0.4 SLC52A3 Ellen McDonagh gene: SLC52A3 was added
gene: SLC52A3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 211530; Fazio-Londe disease 211500
Likely inborn error of metabolism v0.4 SLC52A2 Ellen McDonagh gene: SLC52A2 was added
gene: SLC52A2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 614707
Likely inborn error of metabolism v0.4 SLC46A1 Ellen McDonagh gene: SLC46A1 was added
gene: SLC46A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to 27604308
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary; Hereditary folate malabsorption (Disorders of folate metabolism and transport)
Likely inborn error of metabolism v0.4 SLC39A8 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIn 616721 for gene: SLC39A8
Publications for gene SLC39A8 were changed from 27604308 to 26637978; 26637979
Likely inborn error of metabolism v0.4 SLC39A8 Ellen McDonagh gene: SLC39A8 was added
gene: SLC39A8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 27604308
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn 616721; Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism)
Likely inborn error of metabolism v0.4 SLC39A4 Ellen McDonagh gene: SLC39A4 was added
gene: SLC39A4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 27604308
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
Likely inborn error of metabolism v0.4 SLC39A14 Ellen McDonagh gene: SLC39A14 was added
gene: SLC39A14 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2
Likely inborn error of metabolism v0.4 SLC37A4 Ellen McDonagh gene: SLC37A4 was added
gene: SLC37A4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC37A4 were set to 27604308
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ic, 232240; Glycogen storage disease Ib, 232220; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ib and Ic; Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders); heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia
Likely inborn error of metabolism v0.4 SLC35D1 Ellen McDonagh Added phenotypes 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) for gene: SLC35D1
Publications for gene SLC35D1 were changed from 27604308 to 19508970; 17952091
Likely inborn error of metabolism v0.4 SLC35D1 Ellen McDonagh gene: SLC35D1 was added
gene: SLC35D1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35D1 were set to 27604308
Phenotypes for gene: SLC35D1 were set to 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Likely inborn error of metabolism v0.4 SLC35C1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIc 266265; GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35C1
Publications for gene SLC35C1 were changed from 27604308 to 12476046; 11326280
Likely inborn error of metabolism v0.4 SLC35C1 Ellen McDonagh gene: SLC35C1 was added
gene: SLC35C1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35C1 were set to 27604308
Phenotypes for gene: SLC35C1 were set to GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IIc 266265
Likely inborn error of metabolism v0.4 SLC35A3 Ellen McDonagh gene: SLC35A3 was added
gene: SLC35A3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 24031089
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures
Likely inborn error of metabolism v0.4 SLC35A1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iif, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35A1
Publications for gene SLC35A1 were changed from 23873973; 15576474 to 27604308
Likely inborn error of metabolism v0.4 SLC35A1 Ellen McDonagh gene: SLC35A1 was added
gene: SLC35A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A1 were set to 23873973; 15576474
Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism v0.4 SLC30A10 Ellen McDonagh gene: SLC30A10 was added
gene: SLC30A10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 27604308
Phenotypes for gene: SLC30A10 were set to Parkinson Disease and Complex Parkinsonism; Early onset dystonia; Hypermanganesemia with dystonia 1; Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism)
Likely inborn error of metabolism v0.4 SLC2A2 Ellen McDonagh gene: SLC2A2 was added
gene: SLC2A2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 27604308
Phenotypes for gene: SLC2A2 were set to Glycogen storage disease type XI (Glycogen storage disorders); Glycogen Storage Disorders- Liver; Glucose transporter 2 deficiency (Disorders of glucose transport); Fanconi-Bickel Syndrome; renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
Likely inborn error of metabolism v0.4 SLC27A5 Ellen McDonagh gene: SLC27A5 was added
gene: SLC27A5 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC27A5 were set to 27604308
Phenotypes for gene: SLC27A5 were set to Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis)
Likely inborn error of metabolism v0.4 SLC25A46 Ellen McDonagh Added phenotypes optic atrophy spectrum disorder for gene: SLC25A46
Publications for gene SLC25A46 were changed from PMID: 26168012 to 26168012
Likely inborn error of metabolism v0.4 SLC25A46 Ellen McDonagh gene: SLC25A46 was added
gene: SLC25A46 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to PMID: 26168012
Phenotypes for gene: SLC25A46 were set to optic atrophy spectrum disorder
Likely inborn error of metabolism v0.4 SLC25A38 Ellen McDonagh Added phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias for gene: SLC25A38
Publications for gene SLC25A38 were changed from 27604308 to PMID: 26821380 (potential novel treatment using glycine and folate).; PMID: 19731322 (12 probands with mutations in this gene); PMID: 25985931 (mutations detected in 3 patients in this gene); PMID: 21393332 (11 patients); PMID: 19412178
Likely inborn error of metabolism v0.4 SLC25A38 Ellen McDonagh gene: SLC25A38 was added
gene: SLC25A38 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 27604308
Phenotypes for gene: SLC25A38 were set to severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital sideroblastic anemias
Likely inborn error of metabolism v0.4 SLC25A3 Ellen McDonagh Added phenotypes Mitochondrial phosphate carrier deficiency 610773; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) for gene: SLC25A3
Publications for gene SLC25A3 were changed from 27604308; 17273968; 25681081 to 27604308
Likely inborn error of metabolism v0.4 SLC25A3 Ellen McDonagh gene: SLC25A3 was added
gene: SLC25A3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A3 were set to 27604308; 17273968; 25681081
Phenotypes for gene: SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773
Likely inborn error of metabolism v0.4 SLC25A26 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness for gene: SLC25A26
Publications for gene SLC25A26 were changed from PMID: 26522469 to 26522469
Likely inborn error of metabolism v0.4 SLC25A26 Ellen McDonagh gene: SLC25A26 was added
gene: SLC25A26 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A26 were set to PMID: 26522469
Phenotypes for gene: SLC25A26 were set to Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness
Likely inborn error of metabolism v0.4 SLC25A22 Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SLC25A22
Publications for gene SLC25A22 were changed from to 27604308
Likely inborn error of metabolism v0.4 SLC25A22 Ellen McDonagh gene: SLC25A22 was added
gene: SLC25A22 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304
Likely inborn error of metabolism v0.4 SLC25A20 Ellen McDonagh gene: SLC25A20 was added
gene: SLC25A20 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 27604308
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Likely inborn error of metabolism v0.4 SLC25A19 Ellen McDonagh Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710; Microcephaly, Amish type (Disorders of thiamine metabolism) for gene: SLC25A19
Publications for gene SLC25A19 were changed from to 27604308
Likely inborn error of metabolism v0.4 SLC25A19 Ellen McDonagh gene: SLC25A19 was added
gene: SLC25A19 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Likely inborn error of metabolism v0.4 SLC25A15 Ellen McDonagh gene: SLC25A15 was added
gene: SLC25A15 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A15 were set to 27604308
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970; HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism v0.4 SLC25A13 Ellen McDonagh Added phenotypes Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13
Likely inborn error of metabolism v0.4 SLC25A13 Ellen McDonagh gene: SLC25A13 was added
gene: SLC25A13 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A13 were set to 27604308
Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II 603471; Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism v0.4 SLC25A12 Ellen McDonagh Added phenotypes Hypomyelination, global cerebral, 612949 for gene: SLC25A12
Likely inborn error of metabolism v0.4 SLC25A12 Ellen McDonagh gene: SLC25A12 was added
gene: SLC25A12 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A12 were set to 27604308
Phenotypes for gene: SLC25A12 were set to Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders
Likely inborn error of metabolism v0.4 SLC25A1 Ellen McDonagh Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Disorders of mitochondrial protein transport for gene: SLC25A1
Likely inborn error of metabolism v0.4 SLC25A1 Ellen McDonagh gene: SLC25A1 was added
gene: SLC25A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A1 were set to 27604308
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Likely inborn error of metabolism v0.4 SLC22A5 Ellen McDonagh gene: SLC22A5 was added
gene: SLC22A5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 27604308; 24816252
Phenotypes for gene: SLC22A5 were set to Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)
Likely inborn error of metabolism v0.4 SLC19A3 Ellen McDonagh Added phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism); Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 for gene: SLC19A3
Publications for gene SLC19A3 were changed from to 27604308
Likely inborn error of metabolism v0.4 SLC19A3 Ellen McDonagh gene: SLC19A3 was added
gene: SLC19A3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
Likely inborn error of metabolism v0.4 SLC19A2 Ellen McDonagh Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270; Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) for gene: SLC19A2
Publications for gene SLC19A2 were changed from to 27604308
Likely inborn error of metabolism v0.4 SLC19A2 Ellen McDonagh gene: SLC19A2 was added
gene: SLC19A2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270
Likely inborn error of metabolism v0.4 SLC18A2 Ellen McDonagh gene: SLC18A2 was added
gene: SLC18A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 27604308; 26497564; 23363473
Phenotypes for gene: SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM)
Likely inborn error of metabolism v0.4 SLC17A5 Ellen McDonagh gene: SLC17A5 was added
gene: SLC17A5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 SLC12A3 Ellen McDonagh gene: SLC12A3 was added
gene: SLC12A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A3 were set to 27604308
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis
Likely inborn error of metabolism v0.4 SKIV2L Ellen McDonagh gene: SKIV2L was added
gene: SKIV2L was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SKIV2L were set to 27604308
Phenotypes for gene: SKIV2L were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 2 (Other metabolic disorders)
Likely inborn error of metabolism v0.4 SI Ellen McDonagh gene: SI was added
gene: SI was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SI were set to 27604308; 14724820; 8648527; 16329100
Phenotypes for gene: SI were set to CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900; Disaccharide intolerance 1 (Other carbohydrate disorders)
Likely inborn error of metabolism v0.4 SHPK Ellen McDonagh gene: SHPK was added
gene: SHPK was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHPK were set to 27604308
Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency (Other metabolic disorders); [Sedoheptulokinase deficiency] 617213
Likely inborn error of metabolism v0.4 SGSH Ellen McDonagh gene: SGSH was added
gene: SGSH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 27604308
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type IIIA; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3A
Likely inborn error of metabolism v0.4 SERAC1 Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
Publications for gene SERAC1 were changed from 29205472 to 27604308
Likely inborn error of metabolism v0.4 SERAC1 Ellen McDonagh gene: SERAC1 was added
gene: SERAC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 29205472
Phenotypes for gene: SERAC1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Likely inborn error of metabolism v0.4 SDHD Ellen McDonagh Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHD
Likely inborn error of metabolism v0.4 SDHD Ellen McDonagh gene: SDHD was added
gene: SDHD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHD were set to 27604308
Phenotypes for gene: SDHD were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex II deficiency
Likely inborn error of metabolism v0.4 SDHB Ellen McDonagh Added phenotypes Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Paraganglioma and gastric stromal sarcoma, 606864 for gene: SDHB
Publications for gene SDHB were changed from 27604308 to PMID: 26925370; 22972948
Likely inborn error of metabolism v0.4 SDHB Ellen McDonagh gene: SDHB was added
gene: SDHB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHB were set to 27604308
Phenotypes for gene: SDHB were set to Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Paraganglioma and gastric stromal sarcoma, 606864
Likely inborn error of metabolism v0.4 SDHAF1 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Isolated complex II deficiency for gene: SDHAF1
Likely inborn error of metabolism v0.4 SDHAF1 Ellen McDonagh gene: SDHAF1 was added
gene: SDHAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHAF1 were set to 27604308
Phenotypes for gene: SDHAF1 were set to Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Isolated complex II deficiency; Mitochondrial Respiratory Chain Complex II Deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism v0.4 SDHA Ellen McDonagh Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency for gene: SDHA
Likely inborn error of metabolism v0.4 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHA were set to 27604308
Phenotypes for gene: SDHA were set to Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency
Likely inborn error of metabolism v0.4 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCP2 were set to 27604308
Phenotypes for gene: SCP2 were set to Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism v0.4 SCO2 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908 for gene: SCO2
Likely inborn error of metabolism v0.4 SCO2 Ellen McDonagh gene: SCO2 was added
gene: SCO2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 27604308
Phenotypes for gene: SCO2 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908
Likely inborn error of metabolism v0.4 SCO1 Ellen McDonagh Added phenotypes Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency for gene: SCO1
Likely inborn error of metabolism v0.4 SCO1 Ellen McDonagh gene: SCO1 was added
gene: SCO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO1 were set to 27604308
Phenotypes for gene: SCO1 were set to Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism v0.4 SC5D Ellen McDonagh gene: SC5D was added
gene: SC5D was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SC5D were set to 27604308
Phenotypes for gene: SC5D were set to Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts
Likely inborn error of metabolism v0.4 SARS2 Ellen McDonagh Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SARS2
Publications for gene SARS2 were changed from PMID: 21255763; 24034276 to 27604308
Likely inborn error of metabolism v0.4 SARS2 Ellen McDonagh gene: SARS2 was added
gene: SARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to PMID: 21255763; 24034276
Phenotypes for gene: SARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Likely inborn error of metabolism v0.4 SARDH Ellen McDonagh gene: SARDH was added
gene: SARDH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARDH were set to 27604308
Phenotypes for gene: SARDH were set to [Sarcosinemia] 268900; Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism v0.4 SAR1B Ellen McDonagh gene: SAR1B was added
gene: SAR1B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAR1B were set to 27604308
Phenotypes for gene: SAR1B were set to Anderson disease (Inherited hypolipidaemias); CHYLOMICRON RETENTION DISEASE 246700
Likely inborn error of metabolism v0.4 SAMHD1 Ellen McDonagh Added phenotypes Aicardi-Goutieres syndrome-5 (AGS5) for gene: SAMHD1
Publications for gene SAMHD1 were changed from 27604308 to PMID: 19525956; 25604658
Likely inborn error of metabolism v0.4 SAMHD1 Ellen McDonagh gene: SAMHD1 was added
gene: SAMHD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 27604308
Phenotypes for gene: SAMHD1 were set to (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5)
Likely inborn error of metabolism v0.4 SACS Ellen McDonagh Added phenotypes Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) for gene: SACS
Publications for gene SACS were changed from PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) to 12873855 (18 patients from 4 families); 15985586 (two siblings); 14718706 (two sisters); 16606928 (case study); 10655055 (17 families with 24 patients); 14718708 (two family members)
Likely inborn error of metabolism v0.4 SACS Ellen McDonagh gene: SACS was added
gene: SACS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SACS were set to PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study)
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Likely inborn error of metabolism v0.4 RPIA Ellen McDonagh gene: RPIA was added
gene: RPIA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 27604308; 30088433; 14988808; 28801340
Phenotypes for gene: RPIA were set to Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism); ?Ribose 5-phosphate isomerase deficiency 608611
Likely inborn error of metabolism v0.4 ROBO3 Ellen McDonagh gene: ROBO3 was added
gene: ROBO3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO3 were set to 16525029; 15105459
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Likely inborn error of metabolism v0.4 RNASET2 Ellen McDonagh gene: RNASET2 was added
gene: RNASET2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASET2 were set to 27604308
Phenotypes for gene: RNASET2 were set to Intellectual disability; RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism); Inherited white matter disorders
Likely inborn error of metabolism v0.4 RNASEH2C Ellen McDonagh gene: RNASEH2C was added
gene: RNASEH2C was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2C were set to 27604308
Phenotypes for gene: RNASEH2C were set to Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3; Intracerebral calcification disorders; Inherited white matter disorders
Likely inborn error of metabolism v0.4 RNASEH2B Ellen McDonagh gene: RNASEH2B was added
gene: RNASEH2B was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to 27604308
Phenotypes for gene: RNASEH2B were set to Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2; Intracerebral calcification disorders; Inherited white matter disorders
Likely inborn error of metabolism v0.4 RNASEH2A Ellen McDonagh gene: RNASEH2A was added
gene: RNASEH2A was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2A were set to 27604308
Phenotypes for gene: RNASEH2A were set to Intellectual disability; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4; Inherited white matter disorders
Likely inborn error of metabolism v0.4 RNASEH1 Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 for gene: RNASEH1
Likely inborn error of metabolism v0.4 RNASEH1 Ellen McDonagh gene: RNASEH1 was added
gene: RNASEH1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH1 were set to Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193.
Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Likely inborn error of metabolism v0.4 RMND1 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 11, 614922; Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect for gene: RMND1
Publications for gene RMND1 were changed from to 27604308
Likely inborn error of metabolism v0.4 RMND1 Ellen McDonagh gene: RMND1 was added
gene: RMND1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 11, 614922; Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect
Likely inborn error of metabolism v0.4 RFT1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) for gene: RFT1
Publications for gene RFT1 were changed from 23111317 to 27604308
Likely inborn error of metabolism v0.4 RFT1 Ellen McDonagh gene: RFT1 was added
gene: RFT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFT1 were set to 23111317
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 RBCK1 Ellen McDonagh gene: RBCK1 was added
gene: RBCK1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBCK1 were set to 23889995; 23104095
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Likely inborn error of metabolism v0.4 RARS2 Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: RARS2
Publications for gene RARS2 were changed from to 27604308
Likely inborn error of metabolism v0.4 RARS2 Ellen McDonagh gene: RARS2 was added
gene: RARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 QDPR Ellen McDonagh gene: QDPR was added
gene: QDPR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QDPR were set to 27604308
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C
Likely inborn error of metabolism v0.4 PYGM Ellen McDonagh gene: PYGM was added
gene: PYGM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGM were set to 27604308
Phenotypes for gene: PYGM were set to Glycogen storage disease type V, McArdle (Glycogen storage disorders); McArdle disease 232600
Likely inborn error of metabolism v0.4 PYGL Ellen McDonagh gene: PYGL was added
gene: PYGL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGL were set to 27604308
Phenotypes for gene: PYGL were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease VI, 232700; hepatomegaly and mild hypoglycaemia; Glycogen Storage Disease Type VI; Glycogen storage disease type VI, Hers (Glycogen storage disorders)
Likely inborn error of metabolism v0.4 PYCR1 Ellen McDonagh Added phenotypes Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 for gene: PYCR1
Likely inborn error of metabolism v0.4 PYCR1 Ellen McDonagh gene: PYCR1 was added
gene: PYCR1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYCR1 were set to 27604308
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIB, 612940
Likely inborn error of metabolism v0.4 PUS1 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial myopathy and sideroblastic anemia 1, 600462 for gene: PUS1
Likely inborn error of metabolism v0.4 PUS1 Ellen McDonagh gene: PUS1 was added
gene: PUS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 27604308
Phenotypes for gene: PUS1 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 PTS Ellen McDonagh gene: PTS was added
gene: PTS was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTS were set to 27604308
Phenotypes for gene: PTS were set to Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism)
Likely inborn error of metabolism v0.4 PSPH Ellen McDonagh gene: PSPH was added
gene: PSPH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSPH were set to 27604308; 24816252
Phenotypes for gene: PSPH were set to Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia
Likely inborn error of metabolism v0.4 PSAT1 Ellen McDonagh gene: PSAT1 was added
gene: PSAT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 27604308
Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia
Likely inborn error of metabolism v0.4 PSAP Ellen McDonagh gene: PSAP was added
gene: PSAP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAP were set to 27604308
Phenotypes for gene: PSAP were set to Atypical Gaucher disease; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Combined SAP deficiency; Combined SAP deficiency, 611721; Prosaposin deficiency (Sphingolipidoses); Atypical Krabbe disease; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722
Likely inborn error of metabolism v0.4 PRODH Ellen McDonagh gene: PRODH was added
gene: PRODH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRODH were set to 27604308; 24816252
Phenotypes for gene: PRODH were set to Hyperprolinemia, type I 239500; Hyperprolinaemia type I (Disorders of ornithine or proline metabolism)
Likely inborn error of metabolism v0.4 PREPL Ellen McDonagh gene: PREPL was added
gene: PREPL was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 27604308
Phenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome 606407; Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
Likely inborn error of metabolism v0.4 PPT1 Ellen McDonagh gene: PPT1 was added
gene: PPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPT1 were set to 27604308
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1
Likely inborn error of metabolism v0.4 PPM1B Ellen McDonagh gene: PPM1B was added
gene: PPM1B was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PPM1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1B were set to 27604308; 15913950; 11524703
Phenotypes for gene: PPM1B were set to Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 PPA2 Ellen McDonagh gene: PPA2 was added
gene: PPA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523598
Likely inborn error of metabolism v0.4 POR Ellen McDonagh gene: POR was added
gene: POR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POR were set to 27604308
Phenotypes for gene: POR were set to Antley-Bixler syndrome with disordered steroidogenesis; Unexplained skeletal dysplasia; Disorders of sex development; Craniosynostosis syndromes phenotypes
Likely inborn error of metabolism v0.4 POMT2 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 for gene: POMT2
Publications for gene POMT2 were changed from 27604308 to 27421908
Likely inborn error of metabolism v0.4 POMT2 Ellen McDonagh gene: POMT2 was added
gene: POMT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 27604308
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
Likely inborn error of metabolism v0.4 POMT1 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 for gene: POMT1
Publications for gene POMT1 were changed from 27421908 to 27604308
Likely inborn error of metabolism v0.4 POMT1 Ellen McDonagh gene: POMT1 was added
gene: POMT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 27421908
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Likely inborn error of metabolism v0.4 POMGNT2 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 for gene: POMGNT2
Likely inborn error of metabolism v0.4 POMGNT2 Ellen McDonagh gene: POMGNT2 was added
gene: POMGNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT2 were set to 27066570
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
Likely inborn error of metabolism v0.4 POMGNT1 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123 for gene: POMGNT1
Publications for gene POMGNT1 were changed from 27604308 to 27421908
Likely inborn error of metabolism v0.4 POMGNT1 Ellen McDonagh gene: POMGNT1 was added
gene: POMGNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 27604308
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123
Likely inborn error of metabolism v0.4 PNPT1 Ellen McDonagh Added phenotypes Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; respiratory chain disorder; hearing loss; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: PNPT1
Publications for gene PNPT1 were changed from to 27604308
Likely inborn error of metabolism v0.4 PNPT1 Ellen McDonagh gene: PNPT1 was added
gene: PNPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPT1 were set to respiratory chain disorder; Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; hearing loss
Likely inborn error of metabolism v0.4 PNPO Ellen McDonagh gene: PNPO was added
gene: PNPO was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPO were set to 27604308
Phenotypes for gene: PNPO were set to Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)
Likely inborn error of metabolism v0.4 PNP Ellen McDonagh gene: PNP was added
gene: PNP was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNP were set to 27604308
Phenotypes for gene: PNP were set to SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism v0.4 PNLIP Ellen McDonagh gene: PNLIP was added
gene: PNLIP was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNLIP were set to 27604308
Phenotypes for gene: PNLIP were set to Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism); Pancreatic lipase deficiency 614338
Likely inborn error of metabolism v0.4 PMPCA Ellen McDonagh Added phenotypes slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia for gene: PMPCA
Publications for gene PMPCA were changed from PMID: 25808372; PMID: 26657514 to 26657514; 25808372
Likely inborn error of metabolism v0.4 PMPCA Ellen McDonagh gene: PMPCA was added
gene: PMPCA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCA were set to PMID: 25808372; PMID: 26657514
Phenotypes for gene: PMPCA were set to slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia
Likely inborn error of metabolism v0.4 PMM2 Ellen McDonagh Added phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ia 212065 for gene: PMM2
Publications for gene PMM2 were changed from 27604308 to 11875054; 11058895; 11409861
Likely inborn error of metabolism v0.4 PMM2 Ellen McDonagh gene: PMM2 was added
gene: PMM2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 27604308
Phenotypes for gene: PMM2 were set to Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ia 212065
Likely inborn error of metabolism v0.4 PLA2G6 Ellen McDonagh gene: PLA2G6 was added
gene: PLA2G6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 27604308; 18570303; 16783378; 18799783
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1
Likely inborn error of metabolism v0.4 PITRM1 Ellen McDonagh gene: PITRM1 was added
gene: PITRM1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to PMID: 26697887
Phenotypes for gene: PITRM1 were set to mental retardation, spinocerebellar ataxia, cognitive decline and psychosis
Likely inborn error of metabolism v0.4 PINK1 Ellen McDonagh gene: PINK1 was added
gene: PINK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PINK1 were set to 27604308
Phenotypes for gene: PINK1 were set to Early onset dystonia; Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism v0.4 PIGW Ellen McDonagh gene: PIGW was added
gene: PIGW was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGW were set to 24367057
Phenotypes for gene: PIGW were set to ?Hyperphosphatasia with mental retardation syndrome 5
Likely inborn error of metabolism v0.4 PIGV Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PIGV
Publications for gene PIGV were changed from 27604308 to 20802478; 24129430
Likely inborn error of metabolism v0.4 PIGV Ellen McDonagh gene: PIGV was added
gene: PIGV was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGV were set to 27604308
Phenotypes for gene: PIGV were set to Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Likely inborn error of metabolism v0.4 PIGT Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT
Publications for gene PIGT were changed from 28327575 to 23636107; 28327575
Likely inborn error of metabolism v0.4 PIGT Ellen McDonagh gene: PIGT was added
gene: PIGT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGT were set to 28327575
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3
Likely inborn error of metabolism v0.4 PIGO Ellen McDonagh Added phenotypes (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749 for gene: PIGO
Publications for gene PIGO were changed from 22683086; 27177984; 24129430 to 27604308
Likely inborn error of metabolism v0.4 PIGO Ellen McDonagh gene: PIGO was added
gene: PIGO was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGO were set to 22683086; 27177984; 24129430
Phenotypes for gene: PIGO were set to (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749
Likely inborn error of metabolism v0.4 PIGN Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 for gene: PIGN
Publications for gene PIGN were changed from 27604308 to 26419326; 21493957
Likely inborn error of metabolism v0.4 PIGN Ellen McDonagh gene: PIGN was added
gene: PIGN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGN were set to 27604308
Phenotypes for gene: PIGN were set to PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Multiple congenital anomalies-hypotonia-seizures syndrome 1
Likely inborn error of metabolism v0.4 PIGM Ellen McDonagh Added phenotypes Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Glycosylphosphatidylinositol deficiency 610293 for gene: PIGM
Likely inborn error of metabolism v0.4 PIGM Ellen McDonagh gene: PIGM was added
gene: PIGM was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGM were set to 27604308; 16767100; 25293775
Phenotypes for gene: PIGM were set to Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Likely inborn error of metabolism v0.4 PIGL Ellen McDonagh Added phenotypes PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000 for gene: PIGL
Publications for gene PIGL were changed from 27604308 to 22444671
Likely inborn error of metabolism v0.4 PIGL Ellen McDonagh gene: PIGL was added
gene: PIGL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 27604308
Phenotypes for gene: PIGL were set to PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000
Likely inborn error of metabolism v0.4 PHYKPL Ellen McDonagh gene: PHYKPL was added
gene: PHYKPL was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHYKPL were set to 27604308
Phenotypes for gene: PHYKPL were set to Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism); [?Phosphohydroxylysinuria] 615011
Likely inborn error of metabolism v0.4 PHYH Ellen McDonagh gene: PHYH was added
gene: PHYH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHYH were set to 27604308
Phenotypes for gene: PHYH were set to Refsum disease, 266500; Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism v0.4 PHKG2 Ellen McDonagh gene: PHKG2 was added
gene: PHKG2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHKG2 were set to 27604308
Phenotypes for gene: PHKG2 were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen storage disease IXc, 613027; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders); Cirrhosis due to liver phosphorylase kinase deficiency
Likely inborn error of metabolism v0.4 PHKB Ellen McDonagh gene: PHKB was added
gene: PHKB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHKB were set to 27604308
Phenotypes for gene: PHKB were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease; Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders)
Likely inborn error of metabolism v0.4 PHGDH Ellen McDonagh gene: PHGDH was added
gene: PHGDH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 27604308; 24816252
Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability
Likely inborn error of metabolism v0.4 PGM3 Ellen McDonagh Added phenotypes Immunodeficiency 23 for gene: PGM3
Likely inborn error of metabolism v0.4 PGM3 Ellen McDonagh gene: PGM3 was added
gene: PGM3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 24698316
Phenotypes for gene: PGM3 were set to Immunodeficiency 23
Likely inborn error of metabolism v0.4 PGM1 Ellen McDonagh Added phenotypes Congenital disorder of deglycosylation 615273 for gene: PGM1
Publications for gene PGM1 were changed from 27604308 to 27206562
Likely inborn error of metabolism v0.4 PGM1 Ellen McDonagh gene: PGM1 was added
gene: PGM1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM1 were set to 27604308
Phenotypes for gene: PGM1 were set to Glycogen Storage Disease; Congenital disorder of deglycosylation 615273; Glycogen storage disease type XIV (Glycogen storage disorders); Congenital disorder of glycosylation, type It, 614921; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type XIV; Glycogen storage disease XIV, 612934
Likely inborn error of metabolism v0.4 PGAP3 Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 4 for gene: PGAP3
Likely inborn error of metabolism v0.4 PGAP3 Ellen McDonagh gene: PGAP3 was added
gene: PGAP3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP3 were set to 24439110
Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4
Likely inborn error of metabolism v0.4 PGAP2 Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PGAP2
Publications for gene PGAP2 were changed from 23561846; 23561847 to 27604308
Likely inborn error of metabolism v0.4 PGAP2 Ellen McDonagh gene: PGAP2 was added
gene: PGAP2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP2 were set to 23561846; 23561847
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Likely inborn error of metabolism v0.4 PGAM2 Ellen McDonagh gene: PGAM2 was added
gene: PGAM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAM2 were set to 27604308
Phenotypes for gene: PGAM2 were set to Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders
Likely inborn error of metabolism v0.4 PFKM Ellen McDonagh gene: PFKM was added
gene: PFKM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFKM were set to 27604308
Phenotypes for gene: PFKM were set to Glycogen storage disease VII
Likely inborn error of metabolism v0.4 PEX7 Ellen McDonagh gene: PEX7 was added
gene: PEX7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 27604308
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B 614879; Rhizomelic chondrodysplasia punctata, type 1; Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
Likely inborn error of metabolism v0.4 PEX6 Ellen McDonagh gene: PEX6 was added
gene: PEX6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 27604308
Phenotypes for gene: PEX6 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862
Likely inborn error of metabolism v0.4 PEX5 Ellen McDonagh gene: PEX5 was added
gene: PEX5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 27604308
Phenotypes for gene: PEX5 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger)
Likely inborn error of metabolism v0.4 PEX3 Ellen McDonagh gene: PEX3 was added
gene: PEX3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX3 were set to 27604308
Phenotypes for gene: PEX3 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 10A (Zellweger) 614882
Likely inborn error of metabolism v0.4 PEX26 Ellen McDonagh gene: PEX26 was added
gene: PEX26 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 27604308
Phenotypes for gene: PEX26 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 7A (Zellweger) 61487; Peroxisome biogenesis disorder 7B 614873
Likely inborn error of metabolism v0.4 PEX2 Ellen McDonagh gene: PEX2 was added
gene: PEX2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX2 were set to 27604308
Phenotypes for gene: PEX2 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867
Likely inborn error of metabolism v0.4 PEX19 Ellen McDonagh gene: PEX19 was added
gene: PEX19 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX19 were set to 27604308
Phenotypes for gene: PEX19 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 12A (Zellweger)
Likely inborn error of metabolism v0.4 PEX16 Ellen McDonagh gene: PEX16 was added
gene: PEX16 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX16 were set to 27604308
Phenotypes for gene: PEX16 were set to Disorders of peroxisome biogenesis; Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum; Peroxisome biogenesis disorder 8A, (Zellweger), 614876; Peroxisomal biogenesis disorders; Zellweger Syndrome
Likely inborn error of metabolism v0.4 PEX14 Ellen McDonagh gene: PEX14 was added
gene: PEX14 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX14 were set to 27604308
Phenotypes for gene: PEX14 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 13A (Zellweger)
Likely inborn error of metabolism v0.4 PEX13 Ellen McDonagh gene: PEX13 was added
gene: PEX13 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 27604308
Phenotypes for gene: PEX13 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 11A (Zellweger)
Likely inborn error of metabolism v0.4 PEX12 Ellen McDonagh gene: PEX12 was added
gene: PEX12 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 27604308
Phenotypes for gene: PEX12 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B
Likely inborn error of metabolism v0.4 PEX11B Ellen McDonagh gene: PEX11B was added
gene: PEX11B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B
Likely inborn error of metabolism v0.4 PEX10 Ellen McDonagh gene: PEX10 was added
gene: PEX10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 27604308
Phenotypes for gene: PEX10 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B 614871
Likely inborn error of metabolism v0.4 PEX1 Ellen McDonagh gene: PEX1 was added
gene: PEX1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 27604308
Phenotypes for gene: PEX1 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Peroxisome biogenesis disorder 1A (Zellweger) 214100
Likely inborn error of metabolism v0.4 PET100 Ellen McDonagh Added phenotypes Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: PET100
Publications for gene PET100 were changed from PMID: 24462369 to 24462369
Likely inborn error of metabolism v0.4 PET100 Ellen McDonagh gene: PET100 was added
gene: PET100 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET100 were set to PMID: 24462369
Phenotypes for gene: PET100 were set to Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency
Likely inborn error of metabolism v0.4 PEPD Ellen McDonagh gene: PEPD was added
gene: PEPD was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEPD were set to 27604308
Phenotypes for gene: PEPD were set to Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism)
Likely inborn error of metabolism v0.4 PDSS2 Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 3, 614652; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS2
Publications for gene PDSS2 were changed from to 27604308
Likely inborn error of metabolism v0.4 PDSS2 Ellen McDonagh gene: PDSS2 was added
gene: PDSS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, 614652; Disorders of ubiquinone metabolism and biosynthesis
Likely inborn error of metabolism v0.4 PDSS1 Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS1
Publications for gene PDSS1 were changed from PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency to 27604308
Likely inborn error of metabolism v0.4 PDSS1 Ellen McDonagh gene: PDSS1 was added
gene: PDSS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of ubiquinone metabolism and biosynthesis
Likely inborn error of metabolism v0.4 PDPR Ellen McDonagh Added phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDPR
Publications for gene PDPR were changed from PMID: 25558065 to 27604308; 25558065
Likely inborn error of metabolism v0.4 PDPR Ellen McDonagh gene: PDPR was added
gene: PDPR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PDPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDPR were set to PMID: 25558065
Likely inborn error of metabolism v0.4 PDP2 Ellen McDonagh gene: PDP2 was added
gene: PDP2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDP2 were set to 27604308
Phenotypes for gene: PDP2 were set to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Likely inborn error of metabolism v0.4 PDP1 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782; Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDP1
Publications for gene PDP1 were changed from to 27604308
Likely inborn error of metabolism v0.4 PDP1 Ellen McDonagh gene: PDP1 was added
gene: PDP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, 608782
Likely inborn error of metabolism v0.4 PDHX Ellen McDonagh Added phenotypes Lacticacidemia due to PDX1 deficiency; Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism) for gene: PDHX
Publications for gene PDHX were changed from to 27604308
Likely inborn error of metabolism v0.4 PDHX Ellen McDonagh gene: PDHX was added
gene: PDHX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency
Likely inborn error of metabolism v0.4 PDHB Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-beta deficiency, 614111 for gene: PDHB
Publications for gene PDHB were changed from to 27604308
Likely inborn error of metabolism v0.4 PDHB Ellen McDonagh gene: PDHB was added
gene: PDHB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111
Likely inborn error of metabolism v0.4 PCK1 Ellen McDonagh gene: PCK1 was added
gene: PCK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK1 were set to 27604308
Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Likely inborn error of metabolism v0.4 PCCB Ellen McDonagh gene: PCCB was added
gene: PCCB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 27604308
Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionicacidemia; Propionic aciduria (Organic acidurias)
Likely inborn error of metabolism v0.4 PCCA Ellen McDonagh gene: PCCA was added
gene: PCCA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 27604308
Phenotypes for gene: PCCA were set to Propionicacidemia; Propionic acidemia; Propionicacidemia 606054; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic aciduria (Organic acidurias)
Likely inborn error of metabolism v0.4 PCBD1 Ellen McDonagh gene: PCBD1 was added
gene: PCBD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 27604308
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D
Likely inborn error of metabolism v0.4 PC Ellen McDonagh Added phenotypes Pyruvate carboxylase deficiency for gene: PC
Likely inborn error of metabolism v0.4 PC Ellen McDonagh gene: PC was added
gene: PC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PC were set to 27604308
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency
Likely inborn error of metabolism v0.4 PARS2 Ellen McDonagh gene: PARS2 was added
gene: PARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARS2 were set to PMID: 25629079 (single case)
Phenotypes for gene: PARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome.
Likely inborn error of metabolism v0.4 PANK2 Ellen McDonagh Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 for gene: PANK2
Likely inborn error of metabolism v0.4 PANK2 Ellen McDonagh gene: PANK2 was added
gene: PANK2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 27604308
Phenotypes for gene: PANK2 were set to Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities; Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism v0.4 PAH Ellen McDonagh gene: PAH was added
gene: PAH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAH were set to 27604308; 24816252
Phenotypes for gene: PAH were set to Phenylketonuria
Likely inborn error of metabolism v0.4 OXCT1 Ellen McDonagh gene: OXCT1 was added
gene: OXCT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXCT1 were set to 27604308
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency; severe ketosis on fasting often ketotic in fed state no hepatomegaly; Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism); Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 OAT Ellen McDonagh gene: OAT was added
gene: OAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 27604308
Phenotypes for gene: OAT were set to Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism); Gyrate atrophy of choroid and retina with or without ornithinemia
Likely inborn error of metabolism v0.4 NUS1 Ellen McDonagh gene: NUS1 was added
gene: NUS1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUS1 were set to ?Congenital disorder of glycosylation, type 1aa 617082
Likely inborn error of metabolism v0.4 NUP62 Ellen McDonagh gene: NUP62 was added
gene: NUP62 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP62 were set to 27604308
Phenotypes for gene: NUP62 were set to Infantile striatal necrosis (Other metabolic disorders); Striatonigral degeneration, infantile, 271930
Likely inborn error of metabolism v0.4 NUBPL Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NUBPL
Publications for gene NUBPL were changed from to 27604308
Likely inborn error of metabolism v0.4 NUBPL Ellen McDonagh gene: NUBPL was added
gene: NUBPL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NT5C3A Ellen McDonagh gene: NT5C3A was added
gene: NT5C3A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C3A were set to 27604308
Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency, 266120; Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism v0.4 NPC2 Ellen McDonagh gene: NPC2 was added
gene: NPC2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC2 were set to 27604308
Likely inborn error of metabolism v0.4 NPC1 Ellen McDonagh gene: NPC1 was added
gene: NPC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 27604308
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1
Likely inborn error of metabolism v0.4 NHLRC1 Ellen McDonagh gene: NHLRC1 was added
gene: NHLRC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC1 were set to 27604308
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora)
Likely inborn error of metabolism v0.4 NGLY1 Ellen McDonagh Added phenotypes OrphaNet: ORPHA404454; Alacrimia-choreoathetosis-liver dysfunction syndrome; OMIM:615273 for gene: NGLY1
Publications for gene NGLY1 were changed from to 25220016; 26350515; 25900930; 24651605; 25605922; 22581936; 25707956
Likely inborn error of metabolism v0.4 NGLY1 Ellen McDonagh gene: NGLY1 was added
gene: NGLY1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation 615273
Likely inborn error of metabolism v0.4 NFU1 Ellen McDonagh Added phenotypes Multiple mitochondrial dysfunctions syndrome 1; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: NFU1
Publications for gene NFU1 were changed from to 27604308
Likely inborn error of metabolism v0.4 NFU1 Ellen McDonagh gene: NFU1 was added
gene: NFU1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1
Likely inborn error of metabolism v0.4 NEU1 Ellen McDonagh gene: NEU1 was added
gene: NEU1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEU1 were set to 27604308
Phenotypes for gene: NEU1 were set to Sialidosis type II; Sialidosis, type I; Sialidosis (Oligosaccharidoses); Mucolipidosis, Type I; Sialidosis
Likely inborn error of metabolism v0.4 NDUFV2 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFV2
Publications for gene NDUFV2 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFV2 Ellen McDonagh gene: NDUFV2 was added
gene: NDUFV2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFV1 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFV1
Likely inborn error of metabolism v0.4 NDUFV1 Ellen McDonagh gene: NDUFV1 was added
gene: NDUFV1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV1 were set to 27604308
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFS8 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS8
Publications for gene NDUFS8 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFS8 Ellen McDonagh gene: NDUFS8 was added
gene: NDUFS8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFS7 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Isolated complex I deficiency for gene: NDUFS7
Likely inborn error of metabolism v0.4 NDUFS7 Ellen McDonagh gene: NDUFS7 was added
gene: NDUFS7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS7 were set to 27604308
Phenotypes for gene: NDUFS7 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFS6 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS6
Publications for gene NDUFS6 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFS6 Ellen McDonagh gene: NDUFS6 was added
gene: NDUFS6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFS4 Ellen McDonagh Added phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS4
Publications for gene NDUFS4 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFS4 Ellen McDonagh gene: NDUFS4 was added
gene: NDUFS4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFS3 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFS3
Likely inborn error of metabolism v0.4 NDUFS3 Ellen McDonagh gene: NDUFS3 was added
gene: NDUFS3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS3 were set to 27604308
Phenotypes for gene: NDUFS3 were set to Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFS2 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFS2
Likely inborn error of metabolism v0.4 NDUFS2 Ellen McDonagh gene: NDUFS2 was added
gene: NDUFS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS2 were set to 27604308
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFS1 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS1
Publications for gene NDUFS1 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFS1 Ellen McDonagh gene: NDUFS1 was added
gene: NDUFS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFB9 Ellen McDonagh Added phenotypes ?Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB9
Publications for gene NDUFB9 were changed from 27604308 to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Likely inborn error of metabolism v0.4 NDUFB9 Ellen McDonagh gene: NDUFB9 was added
gene: NDUFB9 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFB9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB9 were set to 27604308
Phenotypes for gene: NDUFB9 were set to ?Mitochondrial complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism v0.4 NDUFB3 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFB3
Publications for gene NDUFB3 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFB3 Ellen McDonagh gene: NDUFB3 was added
gene: NDUFB3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFAF6 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: NDUFAF6
Publications for gene NDUFAF6 were changed from 26741492; 18614015; 27623250 to 27604308
Likely inborn error of metabolism v0.4 NDUFAF6 Ellen McDonagh gene: NDUFAF6 was added
gene: NDUFAF6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 26741492; 18614015; 27623250
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFAF5 Ellen McDonagh Added phenotypes Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF5
Publications for gene NDUFAF5 were changed from 18940309; PMID: 19542079 to 27604308
Likely inborn error of metabolism v0.4 NDUFAF5 Ellen McDonagh gene: NDUFAF5 was added
gene: NDUFAF5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF5 were set to 18940309; PMID: 19542079
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFAF4 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFAF4
Likely inborn error of metabolism v0.4 NDUFAF4 Ellen McDonagh gene: NDUFAF4 was added
gene: NDUFAF4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF4 were set to 27604308
Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFAF3 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFAF3
Likely inborn error of metabolism v0.4 NDUFAF3 Ellen McDonagh gene: NDUFAF3 was added
gene: NDUFAF3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF3 were set to 27604308
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFAF2 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF2
Publications for gene NDUFAF2 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFAF2 Ellen McDonagh gene: NDUFAF2 was added
gene: NDUFAF2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFAF1 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFAF1
Likely inborn error of metabolism v0.4 NDUFAF1 Ellen McDonagh gene: NDUFAF1 was added
gene: NDUFAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF1 were set to 27604308
Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA9 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: NDUFA9
Publications for gene NDUFA9 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFA9 Ellen McDonagh gene: NDUFA9 was added
gene: NDUFA9 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA2 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA2
Publications for gene NDUFA2 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFA2 Ellen McDonagh gene: NDUFA2 was added
gene: NDUFA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA13 Ellen McDonagh gene: NDUFA13 was added
gene: NDUFA13 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA13 were set to Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA12 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency, 256000; Isolated complex I deficiency for gene: NDUFA12
Likely inborn error of metabolism v0.4 NDUFA12 Ellen McDonagh gene: NDUFA12 was added
gene: NDUFA12 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 27604308
Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency,256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism v0.4 NDUFA11 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA11
Publications for gene NDUFA11 were changed from to 27604308
Likely inborn error of metabolism v0.4 NDUFA11 Ellen McDonagh gene: NDUFA11 was added
gene: NDUFA11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NDUFA10 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Isolated complex I deficiency for gene: NDUFA10
Likely inborn error of metabolism v0.4 NDUFA10 Ellen McDonagh gene: NDUFA10 was added
gene: NDUFA10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA10 were set to 27604308
Phenotypes for gene: NDUFA10 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism v0.4 NAT8L Ellen McDonagh gene: NAT8L was added
gene: NAT8L was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 19807691
Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency 614063
Likely inborn error of metabolism v0.4 NARS2 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 24 for gene: NARS2
Publications for gene NARS2 were changed from 25629079; PMID: 25385316; 25807530 to 25629079; 25807530; 25385316
Likely inborn error of metabolism v0.4 NARS2 Ellen McDonagh gene: NARS2 was added
gene: NARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NARS2 were set to 25629079; PMID: 25385316; 25807530
Phenotypes for gene: NARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 24
Likely inborn error of metabolism v0.4 NAGS Ellen McDonagh gene: NAGS was added
gene: NAGS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGS were set to 27604308
Phenotypes for gene: NAGS were set to N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias); N-acetylglutamate synthase deficiency
Likely inborn error of metabolism v0.4 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 27604308
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis Type IIIB
Likely inborn error of metabolism v0.4 NAGA Ellen McDonagh gene: NAGA was added
gene: NAGA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Kanzaki disease
Likely inborn error of metabolism v0.4 MVK Ellen McDonagh gene: MVK was added
gene: MVK was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27604308
Phenotypes for gene: MVK were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Mevalonate kinase deficiency (Disorders of sterol biosynthesis)
Likely inborn error of metabolism v0.4 MUT Ellen McDonagh gene: MUT was added
gene: MUT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 27604308
Phenotypes for gene: MUT were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Methylmalonic aciduria, mut(0) type 251000; Methylmalonyl-CoA mutase deficiency (Organic acidurias)
Likely inborn error of metabolism v0.4 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTTP were set to 27604308
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY); Familial abetalipoproteinaemia (Inherited hypolipidaemias)
Likely inborn error of metabolism v0.4 MTRR Ellen McDonagh gene: MTRR was added
gene: MTRR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 27604308
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type
Likely inborn error of metabolism v0.4 MTR Ellen McDonagh gene: MTR was added
gene: MTR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 27604308
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type
Likely inborn error of metabolism v0.4 MTPAP Ellen McDonagh Added phenotypes Ataxia, spastic, 4, 613672 for gene: MTPAP
Likely inborn error of metabolism v0.4 MTPAP Ellen McDonagh gene: MTPAP was added
gene: MTPAP was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 27604308
Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Likely inborn error of metabolism v0.4 MTO1 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); infantile hypertrophic cardiomyopathy and lactic acidosis. for gene: MTO1
Publications for gene MTO1 were changed from to 27604308
Likely inborn error of metabolism v0.4 MTO1 Ellen McDonagh gene: MTO1 was added
gene: MTO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile hypertrophic cardiomyopathy and lactic acidosis.
Likely inborn error of metabolism v0.4 MTHFR Ellen McDonagh gene: MTHFR was added
gene: MTHFR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 27604308
Phenotypes for gene: MTHFR were set to Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport); Homocystinuria due to MTHFR deficiency
Likely inborn error of metabolism v0.4 MTHFD1 Ellen McDonagh gene: MTHFD1 was added
gene: MTHFD1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFD1 were set to {Abruptio placentae, susceptibility to}; {Spina bifida, folate-sensitive, susceptibility to} 601634 AR
Likely inborn error of metabolism v0.4 MTFMT Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 15, 614947; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: MTFMT
Likely inborn error of metabolism v0.4 MTFMT Ellen McDonagh gene: MTFMT was added
gene: MTFMT was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 27604308
Phenotypes for gene: MTFMT were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders
Likely inborn error of metabolism v0.4 MSMO1 Ellen McDonagh gene: MSMO1 was added
gene: MSMO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 27604308
Phenotypes for gene: MSMO1 were set to Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); (SC4MOL DEFICIENCY); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
Likely inborn error of metabolism v0.4 MRPS23 Ellen McDonagh gene: MRPS23 was added
gene: MRPS23 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS23 were set to PMID: 26741492
Phenotypes for gene: MRPS23 were set to hepatic disease and combined respiratory chain complex deficiencies
Likely inborn error of metabolism v0.4 MRPS22 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MRPS22
Publications for gene MRPS22 were changed from to 27604308
Likely inborn error of metabolism v0.4 MRPS22 Ellen McDonagh gene: MRPS22 was added
gene: MRPS22 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 MRPS16 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 2, 610498; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS for gene: MRPS16
Publications for gene MRPS16 were changed from to 27604308
Likely inborn error of metabolism v0.4 MRPS16 Ellen McDonagh gene: MRPS16 was added
gene: MRPS16 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 MRPL3 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
Likely inborn error of metabolism v0.4 MRPL3 Ellen McDonagh gene: MRPL3 was added
gene: MRPL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL3 were set to 27604308
Phenotypes for gene: MRPL3 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582
Likely inborn error of metabolism v0.4 MPV17 Ellen McDonagh Added phenotypes Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 for gene: MPV17
Likely inborn error of metabolism v0.4 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 27604308
Phenotypes for gene: MPV17 were set to Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3
Likely inborn error of metabolism v0.4 MPI Ellen McDonagh Added phenotypes Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ib 602579 for gene: MPI
Publications for gene MPI were changed from 27604308 to 10980531
Likely inborn error of metabolism v0.4 MPI Ellen McDonagh gene: MPI was added
gene: MPI was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 27604308
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib 602579; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 MPDU1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: MPDU1
Publications for gene MPDU1 were changed from 11733556 to 27604308
Likely inborn error of metabolism v0.4 MPDU1 Ellen McDonagh gene: MPDU1 was added
gene: MPDU1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733556
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism v0.4 MOGS Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIb 606056; MOGS-CDG (Disorders of protein N-glycosylation) for gene: MOGS
Publications for gene MOGS were changed from 27604308 to 20301507; 26805780; 24716661; 4716661
Likely inborn error of metabolism v0.4 MOGS Ellen McDonagh gene: MOGS was added
gene: MOGS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOGS were set to 27604308
Phenotypes for gene: MOGS were set to MOGS-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIb, 606056; (MOGS-CDG (Disorders of protein N-glycosylation))
Likely inborn error of metabolism v0.4 MOCS2 Ellen McDonagh gene: MOCS2 was added
gene: MOCS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS2 were set to 27604308
Phenotypes for gene: MOCS2 were set to Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)
Likely inborn error of metabolism v0.4 MOCS1 Ellen McDonagh gene: MOCS1 was added
gene: MOCS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS1 were set to 27604308
Phenotypes for gene: MOCS1 were set to Intellectual disability; Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism)
Likely inborn error of metabolism v0.4 MMADHC Ellen McDonagh gene: MMADHC was added
gene: MMADHC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1
Likely inborn error of metabolism v0.4 MMACHC Ellen McDonagh gene: MMACHC was added
gene: MMACHC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type
Likely inborn error of metabolism v0.4 MMAB Ellen McDonagh gene: MMAB was added
gene: MMAB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAB were set to 27604308
Phenotypes for gene: MMAB were set to Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism); Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Likely inborn error of metabolism v0.4 MMAA Ellen McDonagh gene: MMAA was added
gene: MMAA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAA were set to 27604308
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive 251100; Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism)
Likely inborn error of metabolism v0.4 MLYCD Ellen McDonagh gene: MLYCD was added
gene: MLYCD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLYCD were set to 27604308
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency; malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
Likely inborn error of metabolism v0.4 MGME1 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial DNA depletion syndrome 11, 615084; Disorders of mitochondrial DNA maintenance and integrity for gene: MGME1
Likely inborn error of metabolism v0.4 MGME1 Ellen McDonagh gene: MGME1 was added
gene: MGME1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial DNA depletion syndrome 11, 615084; Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism v0.4 MGAT2 Ellen McDonagh Added phenotypes N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIa 212066 for gene: MGAT2
Publications for gene MGAT2 were changed from 27604308 to 19419693
Likely inborn error of metabolism v0.4 MGAT2 Ellen McDonagh gene: MGAT2 was added
gene: MGAT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGAT2 were set to 27604308
Phenotypes for gene: MGAT2 were set to N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIa 212066
Likely inborn error of metabolism v0.4 MFSD8 Ellen McDonagh gene: MFSD8 was added
gene: MFSD8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 MFF Ellen McDonagh Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MFF
Publications for gene MFF were changed from to 27604308
Likely inborn error of metabolism v0.4 MFF Ellen McDonagh gene: MFF was added
gene: MFF was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Likely inborn error of metabolism v0.4 MDH2 Ellen McDonagh gene: MDH2 was added
gene: MDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH2 were set to 27989324
Phenotypes for gene: MDH2 were set to Epileptic encephalopathy, early infantile, 51
Likely inborn error of metabolism v0.4 MCOLN1 Ellen McDonagh gene: MCOLN1 was added
gene: MCOLN1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCOLN1 were set to 27604308
Phenotypes for gene: MCOLN1 were set to Mucolipidosis, Type IV; Mucolipidosis IV (Other lysosomal disorders)
Likely inborn error of metabolism v0.4 MCEE Ellen McDonagh gene: MCEE was added
gene: MCEE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCEE were set to 27604308
Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency (Organic acidurias); Methylmalonyl-CoA epimerase deficiency; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
Likely inborn error of metabolism v0.4 MCCC2 Ellen McDonagh gene: MCCC2 was added
gene: MCCC2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC2 were set to 27604308
Likely inborn error of metabolism v0.4 MCCC1 Ellen McDonagh gene: MCCC1 was added
gene: MCCC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC1 were set to 27604308; 24816252
Likely inborn error of metabolism v0.4 MARS2 Ellen McDonagh Added phenotypes Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ?Combined oxidative phosphorylation deficiency 25 for gene: MARS2
Publications for gene MARS2 were changed from 25754315; PMID: 22448145 to 27604308
Likely inborn error of metabolism v0.4 MARS2 Ellen McDonagh gene: MARS2 was added
gene: MARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to 25754315; PMID: 22448145
Phenotypes for gene: MARS2 were set to Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 25
Likely inborn error of metabolism v0.4 MANBA Ellen McDonagh gene: MANBA was added
gene: MANBA was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MANBA were set to 27604308
Phenotypes for gene: MANBA were set to Mannosidosis, beta
Likely inborn error of metabolism v0.4 MAN2B1 Ellen McDonagh gene: MAN2B1 was added
gene: MAN2B1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B1 were set to 27604308
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II
Likely inborn error of metabolism v0.4 MAN1B1 Ellen McDonagh Added phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202 for gene: MAN1B1
Publications for gene MAN1B1 were changed from 24348268 to 27604308
Likely inborn error of metabolism v0.4 MAN1B1 Ellen McDonagh gene: MAN1B1 was added
gene: MAN1B1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN1B1 were set to 24348268
Phenotypes for gene: MAN1B1 were set to MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202
Likely inborn error of metabolism v0.4 LRPPRC Ellen McDonagh Added phenotypes Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: LRPPRC
Publications for gene LRPPRC were changed from to 27604308
Likely inborn error of metabolism v0.4 LRPPRC Ellen McDonagh gene: LRPPRC was added
gene: LRPPRC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency
Likely inborn error of metabolism v0.4 LPIN1 Ellen McDonagh gene: LPIN1 was added
gene: LPIN1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN1 were set to 27604308
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive
Likely inborn error of metabolism v0.4 LONP1 Ellen McDonagh Added phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) for gene: LONP1
Publications for gene LONP1 were changed from PMID: 25574826; PMID: 25808063 to 25574826; 25808063
Likely inborn error of metabolism v0.4 LONP1 Ellen McDonagh gene: LONP1 was added
gene: LONP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to PMID: 25574826; PMID: 25808063
Phenotypes for gene: LONP1 were set to CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Likely inborn error of metabolism v0.4 LMBRD1 Ellen McDonagh gene: LMBRD1 was added
gene: LMBRD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMBRD1 were set to 27604308
Likely inborn error of metabolism v0.4 LIPT2 Ellen McDonagh gene: LIPT2 was added
gene: LIPT2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 LIPT1 Ellen McDonagh Added phenotypes Lipoyltransferase 1 deficiency for gene: LIPT1
Likely inborn error of metabolism v0.4 LIPT1 Ellen McDonagh gene: LIPT1 was added
gene: LIPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency
Likely inborn error of metabolism v0.4 LIPC Ellen McDonagh gene: LIPC was added
gene: LIPC was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPC were set to 27604308
Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797
Likely inborn error of metabolism v0.4 LIPA Ellen McDonagh gene: LIPA was added
gene: LIPA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 27604308
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease
Likely inborn error of metabolism v0.4 LIAS Ellen McDonagh Added phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LIAS
Publications for gene LIAS were changed from to 27604308
Likely inborn error of metabolism v0.4 LIAS Ellen McDonagh gene: LIAS was added
gene: LIAS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
Likely inborn error of metabolism v0.4 LFNG Ellen McDonagh Added phenotypes O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive 609813 for gene: LFNG
Publications for gene LFNG were changed from 27604308 to 16385447
Likely inborn error of metabolism v0.4 LFNG Ellen McDonagh gene: LFNG was added
gene: LFNG was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LFNG were set to 27604308
Phenotypes for gene: LFNG were set to O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive, 609813; LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism v0.4 LDLRAP1 Ellen McDonagh gene: LDLRAP1 was added
gene: LDLRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDLRAP1 were set to 27604308
Phenotypes for gene: LDLRAP1 were set to Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)
Likely inborn error of metabolism v0.4 LDHA Ellen McDonagh gene: LDHA was added
gene: LDHA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDHA were set to 27604308
Phenotypes for gene: LDHA were set to Glycogen Storage Disease; Glycogen storage disease XI, 612933; Muscle LDH deficiency (Glycogen storage disorders)
Likely inborn error of metabolism v0.4 LCT Ellen McDonagh gene: LCT was added
gene: LCT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCT were set to 27604308
Phenotypes for gene: LCT were set to Lactose intolerance (Other carbohydrate disorders); Lactase deficiency, congenital, 223000
Likely inborn error of metabolism v0.4 LCAT Ellen McDonagh gene: LCAT was added
gene: LCAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 27604308
Phenotypes for gene: LCAT were set to Norum disease/LCAT deficiency, 245900; Fish-eye disease, 136120; Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)
Likely inborn error of metabolism v0.4 LARS2 Ellen McDonagh Added phenotypes Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LARS2
Publications for gene LARS2 were changed from to 27604308
Likely inborn error of metabolism v0.4 LARS2 Ellen McDonagh gene: LARS2 was added
gene: LARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 LARGE1 Ellen McDonagh Added phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 for gene: LARGE1
Publications for gene LARGE1 were changed from 27421908 to 27604308
Likely inborn error of metabolism v0.4 LARGE1 Ellen McDonagh gene: LARGE1 was added
gene: LARGE1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARGE1 were set to 27421908
Phenotypes for gene: LARGE1 were set to N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
Likely inborn error of metabolism v0.4 L2HGDH Ellen McDonagh gene: L2HGDH was added
gene: L2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 27604308
Likely inborn error of metabolism v0.4 KYNU Ellen McDonagh gene: KYNU was added
gene: KYNU was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 27604308; 17334708; 28792876
Phenotypes for gene: KYNU were set to Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; multiple congenital malformations; ?Hydroxykynureninuria, 236800
Likely inborn error of metabolism v0.4 KHK Ellen McDonagh gene: KHK was added
gene: KHK was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KHK were set to 27604308
Phenotypes for gene: KHK were set to Essential fructosuria (Disorders of fructose metabolism)
Likely inborn error of metabolism v0.4 KARS Ellen McDonagh Added phenotypes Deafness, autosomal recessive 89, 613916; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 for gene: KARS
Publications for gene KARS were changed from to 27604308
Likely inborn error of metabolism v0.4 KARS Ellen McDonagh gene: KARS was added
gene: KARS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, 613916; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
Likely inborn error of metabolism v0.4 IVD Ellen McDonagh gene: IVD was added
gene: IVD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IVD were set to 27604308; 24816252
Phenotypes for gene: IVD were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Isovaleric acidemia; Isovaleric aciduria (Organic acidurias)
Likely inborn error of metabolism v0.4 ITPA Ellen McDonagh gene: ITPA was added
gene: ITPA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPA were set to 27604308
Phenotypes for gene: ITPA were set to Inosine triphosphatase deficiency (Disorders of purine metabolism); Epileptic encephalopathy, early infantile, 35, 616647; [Inosine triphosphatase deficiency], 613850
Likely inborn error of metabolism v0.4 ISPD Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 for gene: ISPD
Publications for gene ISPD were changed from to 26404900; 26687144
Likely inborn error of metabolism v0.4 ISPD Ellen McDonagh gene: ISPD was added
gene: ISPD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Likely inborn error of metabolism v0.4 ISCU Ellen McDonagh Added phenotypes Myopathy with lactic acidosis, hereditary, 255125; Disorders of iron homeostasis for gene: ISCU
Likely inborn error of metabolism v0.4 ISCU Ellen McDonagh gene: ISCU was added
gene: ISCU was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCU were set to 27604308
Phenotypes for gene: ISCU were set to Rhabdomyolysis and metabolic muscle disorders; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 ISCA2 Ellen McDonagh gene: ISCA2 was added
gene: ISCA2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA2 were set to PMID: 25539947
Phenotypes for gene: ISCA2 were set to infantile neurodegenerative mitochondrial disorder
Likely inborn error of metabolism v0.4 IER3IP1 Ellen McDonagh gene: IER3IP1 was added
gene: IER3IP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 24138066; 22991235; 21835305
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS
Likely inborn error of metabolism v0.4 IDUA Ellen McDonagh gene: IDUA was added
gene: IDUA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 27604308
Phenotypes for gene: IDUA were set to Hurler syndrome; Mucopolysaccharidosis type 1H/S; MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Scheie syndrome; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis, Type I; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014
Likely inborn error of metabolism v0.4 IBA57 Ellen McDonagh Added phenotypes ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive for gene: IBA57
Publications for gene IBA57 were changed from PMID: 23462291; 25971455 to 23462291; 25971455
Likely inborn error of metabolism v0.4 IBA57 Ellen McDonagh gene: IBA57 was added
gene: IBA57 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to PMID: 23462291; 25971455
Phenotypes for gene: IBA57 were set to ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive
Likely inborn error of metabolism v0.4 IARS2 Ellen McDonagh Added phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S); No OMIM phenotype for gene: IARS2
Publications for gene IARS2 were changed from 27604308; 25130867; 27078007 to PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene); PMID: 27078007 (full text not available to confirm findings).
Likely inborn error of metabolism v0.4 IARS2 Ellen McDonagh gene: IARS2 was added
gene: IARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 27604308; 25130867; 27078007
Phenotypes for gene: IARS2 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 HYAL1 Ellen McDonagh gene: HYAL1 was added
gene: HYAL1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL1 were set to 27604308
Phenotypes for gene: HYAL1 were set to ?Mucopolysaccharidosis type IX, 601492; MPS IX, Natowicz (MPS IV, Morquio disease)
Likely inborn error of metabolism v0.4 HTRA2 Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type VIII for gene: HTRA2
Likely inborn error of metabolism v0.4 HTRA2 Ellen McDonagh gene: HTRA2 was added
gene: HTRA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27208207; 27696117
Likely inborn error of metabolism v0.4 HSPA9 Ellen McDonagh gene: HSPA9 was added
gene: HSPA9 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to PMID: 26598328
Phenotypes for gene: HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings
Likely inborn error of metabolism v0.4 HSD3B7 Ellen McDonagh gene: HSD3B7 was added
gene: HSD3B7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B7 were set to 27604308
Phenotypes for gene: HSD3B7 were set to 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 1, 607765
Likely inborn error of metabolism v0.4 HSD17B4 Ellen McDonagh gene: HSD17B4 was added
gene: HSD17B4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD17B4 were set to 27604308
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515; Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism v0.4 HPS1 Ellen McDonagh gene: HPS1 was added
gene: HPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS1 were set to 27604308
Phenotypes for gene: HPS1 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders
Likely inborn error of metabolism v0.4 HOGA1 Ellen McDonagh gene: HOGA1 was added
gene: HOGA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOGA1 were set to 27604308
Phenotypes for gene: HOGA1 were set to Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hyperoxaluria, primary, type III 613616
Likely inborn error of metabolism v0.4 HMGCS2 Ellen McDonagh gene: HMGCS2 was added
gene: HMGCS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS2 were set to 27604308
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency
Likely inborn error of metabolism v0.4 HMGCL Ellen McDonagh Added phenotypes 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias) for gene: HMGCL
Publications for gene HMGCL were changed from 8617516; 28583327; 9463337; 11129331 to 27604308
Likely inborn error of metabolism v0.4 HMGCL Ellen McDonagh gene: HMGCL was added
gene: HMGCL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCL were set to 8617516; 28583327; 9463337; 11129331
Phenotypes for gene: HMGCL were set to 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency, 246450; HMGCLD
Likely inborn error of metabolism v0.4 HLCS Ellen McDonagh Added phenotypes Holocarboxylase synthetase deficiency, 253270; Holocarboxylase synthetase deficiency; lactic acidosis with seizures and eczema, immune deficiency; Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) for gene: HLCS
Publications for gene HLCS were changed from to 27604308
Likely inborn error of metabolism v0.4 HLCS Ellen McDonagh gene: HLCS was added
gene: HLCS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270
Likely inborn error of metabolism v0.4 HIBCH Ellen McDonagh Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency; Methacrylic aciduria (Organic acidurias) for gene: HIBCH
Publications for gene HIBCH were changed from 24299452; PMID: 25251209 to 27604308
Likely inborn error of metabolism v0.4 HIBCH Ellen McDonagh gene: HIBCH was added
gene: HIBCH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to 24299452; PMID: 25251209
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency
Likely inborn error of metabolism v0.4 HGSNAT Ellen McDonagh gene: HGSNAT was added
gene: HGSNAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGSNAT were set to 27604308
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Retinitis Pigmentosa 73; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
Likely inborn error of metabolism v0.4 HGD Ellen McDonagh gene: HGD was added
gene: HGD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGD were set to 27604308
Phenotypes for gene: HGD were set to Alkaptonuria
Likely inborn error of metabolism v0.4 HFE2 Ellen McDonagh gene: HFE2 was added
gene: HFE2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE2 were set to 27604308
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390; Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
Likely inborn error of metabolism v0.4 HFE Ellen McDonagh gene: HFE was added
gene: HFE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 27604308
Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)
Likely inborn error of metabolism v0.4 HEXB Ellen McDonagh gene: HEXB was added
gene: HEXB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXB were set to 27604308
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms
Likely inborn error of metabolism v0.4 HEXA Ellen McDonagh gene: HEXA was added
gene: HEXA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms
Likely inborn error of metabolism v0.4 HARS2 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2
Likely inborn error of metabolism v0.4 HARS2 Ellen McDonagh gene: HARS2 was added
gene: HARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HARS2 were set to 27604308
Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2 614926; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 HAMP Ellen McDonagh gene: HAMP was added
gene: HAMP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAMP were set to 27604308
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313; Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
Likely inborn error of metabolism v0.4 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 27604308
Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015
Likely inborn error of metabolism v0.4 HADHA Ellen McDonagh gene: HADHA was added
gene: HADHA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 27604308
Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015
Likely inborn error of metabolism v0.4 HADH Ellen McDonagh gene: HADH was added
gene: HADH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADH were set to 27604308
Phenotypes for gene: HADH were set to Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism v0.4 HAAO Ellen McDonagh gene: HAAO was added
gene: HAAO was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 27604308; 17334708; 28792876
Phenotypes for gene: HAAO were set to Multiple congenital malformations; VACTERL-like phenotype
Likely inborn error of metabolism v0.4 GYS2 Ellen McDonagh gene: GYS2 was added
gene: GYS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYS2 were set to 27604308
Phenotypes for gene: GYS2 were set to Glycogen Storage Disease; Glycogen Storage Disease Type 0, Liver; Glycogen Storage Disorders- Liver; Glycogen storage disease type 0a, liver (Glycogen storage disorders); Glycogen storage disease, type 0, 240600; fasting intolerance without enlarged liver
Likely inborn error of metabolism v0.4 GYS1 Ellen McDonagh gene: GYS1 was added
gene: GYS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYS1 were set to 27604308; 21958591; 24579562
Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle
Likely inborn error of metabolism v0.4 GYG1 Ellen McDonagh gene: GYG1 was added
gene: GYG1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV
Likely inborn error of metabolism v0.4 GUSB Ellen McDonagh gene: GUSB was added
gene: GUSB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUSB were set to 27604308
Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis VII, 253220; MPS VII, Sly disease (MPS IV, Morquio disease); Mucopolysaccharidosis Type VII; Mucopolysaccharidosis, Type VII
Likely inborn error of metabolism v0.4 GTPBP3 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 23; mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: GTPBP3
Likely inborn error of metabolism v0.4 GTPBP3 Ellen McDonagh gene: GTPBP3 was added
gene: GTPBP3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23; mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 GSS Ellen McDonagh gene: GSS was added
gene: GSS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSS were set to 27604308
Phenotypes for gene: GSS were set to Glutathione synthetase (GSS) deficiency; Glutathione synthetase deficiency 266130; Glutathione synthetase deficiency with 5-oxoprolinuria; Glutathione synthetase deficiency without 5-oxoprolinuria; Pyroglutamic aciduria; 5-oxoprolinuria; Hemolytic anemia due to glutathione synthetase deficiency 231900; Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle); Fanconi nephropathy
Likely inborn error of metabolism v0.4 GRHPR Ellen McDonagh gene: GRHPR was added
gene: GRHPR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHPR were set to 27604308
Phenotypes for gene: GRHPR were set to Primary hyperoxaluria type II (Disorders of glyoxylate metabolism); Hyperoxaluria, primary, type II
Likely inborn error of metabolism v0.4 GPD1 Ellen McDonagh gene: GPD1 was added
gene: GPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPD1 were set to 24549054; 22226083
Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile, 614480
Likely inborn error of metabolism v0.4 GORAB Ellen McDonagh gene: GORAB was added
gene: GORAB was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GORAB were set to 26000619
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum
Likely inborn error of metabolism v0.4 GNS Ellen McDonagh gene: GNS was added
gene: GNS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNS were set to 27604308
Phenotypes for gene: GNS were set to MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III
Likely inborn error of metabolism v0.4 GNPTG Ellen McDonagh gene: GNPTG was added
gene: GNPTG was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTG were set to 27604308
Phenotypes for gene: GNPTG were set to Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders); mucolipidpsis type III complementation group C; Mucolipidosis, Type III Gamma; Mucolipidosis III gamma
Likely inborn error of metabolism v0.4 GNPTAB Ellen McDonagh gene: GNPTAB was added
gene: GNPTAB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTAB were set to 27604308
Phenotypes for gene: GNPTAB were set to Mucolipidosis, Type II; Mucolipidosis, Type III Alpha/Beta; Mucolipidosis III alpha/beta; Mucolipidosis II, I-cell disease (Other lysosomal disorders); Mucolipidosis II alpha/beta
Likely inborn error of metabolism v0.4 GNPAT Ellen McDonagh gene: GNPAT was added
gene: GNPAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPAT were set to 27604308
Phenotypes for gene: GNPAT were set to Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders); Rhizomelic chondrodysplasia punctata, type 2 222765
Likely inborn error of metabolism v0.4 GNMT Ellen McDonagh gene: GNMT was added
gene: GNMT was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNMT were set to 27604308; 17660255
Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency
Likely inborn error of metabolism v0.4 GNE Ellen McDonagh Added phenotypes Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: GNE
Publications for gene GNE were changed from 27604308 to 26721333
Likely inborn error of metabolism v0.4 GNE Ellen McDonagh gene: GNE was added
gene: GNE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 27604308
Phenotypes for gene: GNE were set to Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders)
Likely inborn error of metabolism v0.4 GMPPB Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 for gene: GMPPB
Likely inborn error of metabolism v0.4 GMPPB Ellen McDonagh gene: GMPPB was added
gene: GMPPB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Likely inborn error of metabolism v0.4 GM2A Ellen McDonagh gene: GM2A was added
gene: GM2A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 GLYCTK Ellen McDonagh gene: GLYCTK was added
gene: GLYCTK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLYCTK were set to 27604308
Phenotypes for gene: GLYCTK were set to D-glyceric aciduria 220120; D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism v0.4 GLUL Ellen McDonagh gene: GLUL was added
gene: GLUL was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLUL were set to 27604308
Phenotypes for gene: GLUL were set to Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism)
Likely inborn error of metabolism v0.4 GLRX5 Ellen McDonagh Added phenotypes Disorders of iron homeostasis; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GLRX5
Publications for gene GLRX5 were changed from to 27604308
Likely inborn error of metabolism v0.4 GLRX5 Ellen McDonagh gene: GLRX5 was added
gene: GLRX5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLRX5 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; Disorders of iron homeostasis
Likely inborn error of metabolism v0.4 GLDC Ellen McDonagh gene: GLDC was added
gene: GLDC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 GLB1 Ellen McDonagh gene: GLB1 was added
gene: GLB1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 27604308
Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis Type IVB; GM1-gangliosidosis, type I, 230500
Likely inborn error of metabolism v0.4 GIF Ellen McDonagh gene: GIF was added
gene: GIF was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIF were set to 27604308
Phenotypes for gene: GIF were set to Intrinsic factor deficiency
Likely inborn error of metabolism v0.4 GFPT1 Ellen McDonagh Added phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: GFPT1
Publications for gene GFPT1 were changed from 23569079 to 27604308
Likely inborn error of metabolism v0.4 GFPT1 Ellen McDonagh gene: GFPT1 was added
gene: GFPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFPT1 were set to 23569079
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
Likely inborn error of metabolism v0.4 GFM1 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFM1
Publications for gene GFM1 were changed from to 27604308
Likely inborn error of metabolism v0.4 GFM1 Ellen McDonagh gene: GFM1 was added
gene: GFM1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 GFER Ellen McDonagh Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFER
Publications for gene GFER were changed from 19409522; PMID: 26018198 to 27604308
Likely inborn error of metabolism v0.4 GFER Ellen McDonagh gene: GFER was added
gene: GFER was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFER were set to 19409522; PMID: 26018198
Phenotypes for gene: GFER were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Likely inborn error of metabolism v0.4 GCSH Ellen McDonagh gene: GCSH was added
gene: GCSH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 27604308; 16450403
Phenotypes for gene: GCSH were set to Glycine encephalopathy
Likely inborn error of metabolism v0.4 GCLC Ellen McDonagh gene: GCLC was added
gene: GCLC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCLC were set to 27604308
Phenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle); Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
Likely inborn error of metabolism v0.4 GCDH Ellen McDonagh gene: GCDH was added
gene: GCDH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 GBE1 Ellen McDonagh gene: GBE1 was added
gene: GBE1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 27604308
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500; Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Polyglucosan body disease, adult form, 263570
Likely inborn error of metabolism v0.4 GBA Ellen McDonagh gene: GBA was added
gene: GBA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 27604308
Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type II, 230900; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease; Gaucher disease (Sphingolipidoses)
Likely inborn error of metabolism v0.4 GATM Ellen McDonagh Added phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism); arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM
Publications for gene GATM were changed from to 27604308
Likely inborn error of metabolism v0.4 GATM Ellen McDonagh gene: GATM was added
gene: GATM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718
Likely inborn error of metabolism v0.4 GAMT Ellen McDonagh gene: GAMT was added
gene: GAMT was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to 27604308
Phenotypes for gene: GAMT were set to Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
Likely inborn error of metabolism v0.4 GALT Ellen McDonagh gene: GALT was added
gene: GALT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALT were set to 27604308
Phenotypes for gene: GALT were set to Intellectual disability; Classical galactosaemia (Disorders of galactose metabolism); Galactosemia; Cataracts
Likely inborn error of metabolism v0.4 GALNT3 Ellen McDonagh Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial 211900; Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) for gene: GALNT3
Publications for gene GALNT3 were changed from 27604308 to 15133511
Likely inborn error of metabolism v0.4 GALNT3 Ellen McDonagh gene: GALNT3 was added
gene: GALNT3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT3 were set to 27604308
Phenotypes for gene: GALNT3 were set to Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tumoral calcinosis, hyperphosphatemic, familial 211900
Likely inborn error of metabolism v0.4 GALNS Ellen McDonagh gene: GALNS was added
gene: GALNS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNS were set to 27604308
Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis Type IVA; Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis, Type IV; MPS IVA, Morquio A disease (MPS IV, Morquio disease)
Likely inborn error of metabolism v0.4 GALK1 Ellen McDonagh gene: GALK1 was added
gene: GALK1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 GALE Ellen McDonagh gene: GALE was added
gene: GALE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALE were set to 27604308
Phenotypes for gene: GALE were set to Intellectual disability; Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)
Likely inborn error of metabolism v0.4 GALC Ellen McDonagh gene: GALC was added
gene: GALC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALC were set to 27604308
Phenotypes for gene: GALC were set to Krabbe disease
Likely inborn error of metabolism v0.4 GAA Ellen McDonagh gene: GAA was added
gene: GAA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 G6PC3 Ellen McDonagh gene: G6PC3 was added
gene: G6PC3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome
Likely inborn error of metabolism v0.4 G6PC Ellen McDonagh Added phenotypes Glycogen storage disease Ia for gene: G6PC
Likely inborn error of metabolism v0.4 G6PC Ellen McDonagh gene: G6PC was added
gene: G6PC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: G6PC were set to 27604308
Phenotypes for gene: G6PC were set to Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia; Glycogen storage disease Ia, 232200; Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); fasting intolerance with enlarged liver, renal tubular disease
Likely inborn error of metabolism v0.4 FXN Ellen McDonagh Added phenotypes Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 for gene: FXN
Likely inborn error of metabolism v0.4 FXN Ellen McDonagh gene: FXN was added
gene: FXN was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXN were set to 27604308
Phenotypes for gene: FXN were set to Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 FUT8 Ellen McDonagh gene: FUT8 was added
gene: FUT8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Likely inborn error of metabolism v0.4 FUCA1 Ellen McDonagh gene: FUCA1 was added
gene: FUCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 FTCD Ellen McDonagh gene: FTCD was added
gene: FTCD was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTCD were set to 27604308
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency
Likely inborn error of metabolism v0.4 FOXRED1 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: FOXRED1
Publications for gene FOXRED1 were changed from to 27604308
Likely inborn error of metabolism v0.4 FOXRED1 Ellen McDonagh gene: FOXRED1 was added
gene: FOXRED1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 FOLR1 Ellen McDonagh gene: FOLR1 was added
gene: FOLR1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 27604308
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
Likely inborn error of metabolism v0.4 FMO3 Ellen McDonagh gene: FMO3 was added
gene: FMO3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMO3 were set to 27604308
Phenotypes for gene: FMO3 were set to Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
Likely inborn error of metabolism v0.4 FLAD1 Ellen McDonagh gene: FLAD1 was added
gene: FLAD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLAD1 were set to PubMed: 27259049
Phenotypes for gene: FLAD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Likely inborn error of metabolism v0.4 FKTN Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: FKTN
Publications for gene FKTN were changed from 27421908 to 27604308
Likely inborn error of metabolism v0.4 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 27421908
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
Likely inborn error of metabolism v0.4 FKRP Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: FKRP
Publications for gene FKRP were changed from 27421908 to 27604308
Likely inborn error of metabolism v0.4 FKRP Ellen McDonagh gene: FKRP was added
gene: FKRP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to 27421908
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
Likely inborn error of metabolism v0.4 FH Ellen McDonagh Added phenotypes Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) for gene: FH
Publications for gene FH were changed from to 27604308
Likely inborn error of metabolism v0.4 FH Ellen McDonagh gene: FH was added
gene: FH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency, 606812
Likely inborn error of metabolism v0.4 FECH Ellen McDonagh gene: FECH was added
gene: FECH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FECH were set to 27604308
Phenotypes for gene: FECH were set to Erythropoietic protoporphyria, mild variant; Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity)
Likely inborn error of metabolism v0.4 FBXL4 Ellen McDonagh Added phenotypes fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4
Likely inborn error of metabolism v0.4 FBXL4 Ellen McDonagh gene: FBXL4 was added
gene: FBXL4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
Likely inborn error of metabolism v0.4 FBP1 Ellen McDonagh gene: FBP1 was added
gene: FBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBP1 were set to 27604308
Phenotypes for gene: FBP1 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)
Likely inborn error of metabolism v0.4 FASTKD2 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: FASTKD2
Likely inborn error of metabolism v0.4 FASTKD2 Ellen McDonagh gene: FASTKD2 was added
gene: FASTKD2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 27604308
Phenotypes for gene: FASTKD2 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism v0.4 FARS2 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Publications for gene FARS2 were changed from to 27604308
Likely inborn error of metabolism v0.4 FARS2 Ellen McDonagh gene: FARS2 was added
gene: FARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 14, 614946
Likely inborn error of metabolism v0.4 FAR1 Ellen McDonagh gene: FAR1 was added
gene: FAR1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 FAH Ellen McDonagh gene: FAH was added
gene: FAH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 27604308
Phenotypes for gene: FAH were set to Tyrosinemia, type I
Likely inborn error of metabolism v0.4 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 27604308
Phenotypes for gene: FA2H were set to Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis); Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Hereditary spastic paraplegia
Likely inborn error of metabolism v0.4 EXT1 Ellen McDonagh Added phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700 for gene: EXT1
Publications for gene EXT1 were changed from 12417417 to 27604308
Likely inborn error of metabolism v0.4 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EXT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXT1 were set to 12417417
Phenotypes for gene: EXT1 were set to Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700
Likely inborn error of metabolism v0.4 ETHE1 Ellen McDonagh Added phenotypes Ethylmalonic encephalopathy, 602473; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Ethylmalonic encephalopathy for gene: ETHE1
Publications for gene ETHE1 were changed from to 27604308
Likely inborn error of metabolism v0.4 ETHE1 Ellen McDonagh gene: ETHE1 was added
gene: ETHE1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Ethylmalonic encephalopathy
Likely inborn error of metabolism v0.4 ETFDH Ellen McDonagh Added phenotypes GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; Disorders of ubiquinone metabolism and biosynthesis for gene: ETFDH
Likely inborn error of metabolism v0.4 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 27604308; 24816252
Phenotypes for gene: ETFDH were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism v0.4 ETFB Ellen McDonagh gene: ETFB was added
gene: ETFB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27604308
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism v0.4 ETFA Ellen McDonagh gene: ETFA was added
gene: ETFA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 27604308
Phenotypes for gene: ETFA were set to Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIA
Likely inborn error of metabolism v0.4 EPM2A Ellen McDonagh gene: EPM2A was added
gene: EPM2A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPM2A were set to 27604308
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)
Likely inborn error of metabolism v0.4 EPG5 Ellen McDonagh gene: EPG5 was added
gene: EPG5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 28624465; 23222957; 26917586; 23674064; 25331754; 23838600; 26395118
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Likely inborn error of metabolism v0.4 ENO3 Ellen McDonagh gene: ENO3 was added
gene: ENO3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENO3 were set to 27604308; 25267339; 11506403; 25929793
Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII
Likely inborn error of metabolism v0.4 ELAC2 Ellen McDonagh Added phenotypes infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 17, 615440 for gene: ELAC2
Likely inborn error of metabolism v0.4 ELAC2 Ellen McDonagh gene: ELAC2 was added
gene: ELAC2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 17, 615440
Likely inborn error of metabolism v0.4 EGF Ellen McDonagh gene: EGF was added
gene: EGF was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGF were set to 27604308
Phenotypes for gene: EGF were set to Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism)
Likely inborn error of metabolism v0.4 ECHS1 Ellen McDonagh Added phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency for gene: ECHS1
Likely inborn error of metabolism v0.4 ECHS1 Ellen McDonagh gene: ECHS1 was added
gene: ECHS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Likely inborn error of metabolism v0.4 EARS2 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: EARS2
Publications for gene EARS2 were changed from to 27604308
Likely inborn error of metabolism v0.4 EARS2 Ellen McDonagh gene: EARS2 was added
gene: EARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 DYM Ellen McDonagh Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 for gene: DYM
Likely inborn error of metabolism v0.4 DYM Ellen McDonagh gene: DYM was added
gene: DYM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326
Likely inborn error of metabolism v0.4 DPYS Ellen McDonagh gene: DPYS was added
gene: DPYS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPYS were set to 27604308
Phenotypes for gene: DPYS were set to Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism v0.4 DPYD Ellen McDonagh gene: DPYD was added
gene: DPYD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPYD were set to 27604308
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism v0.4 DPM3 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Io 612937 for gene: DPM3
Publications for gene DPM3 were changed from 27604308 to 19576565
Likely inborn error of metabolism v0.4 DPM3 Ellen McDonagh gene: DPM3 was added
gene: DPM3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 27604308
Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation)
Likely inborn error of metabolism v0.4 DPM2 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iu 615042 for gene: DPM2
Publications for gene DPM2 were changed from 23109149; 19901254 to 23109149
Likely inborn error of metabolism v0.4 DPM2 Ellen McDonagh gene: DPM2 was added
gene: DPM2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM2 were set to 23109149; 19901254
Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042
Likely inborn error of metabolism v0.4 DPM1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: DPM1
Publications for gene DPM1 were changed from 23856421 to 27604308
Likely inborn error of metabolism v0.4 DPM1 Ellen McDonagh gene: DPM1 was added
gene: DPM1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM1 were set to 23856421
Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism v0.4 DPAGT1 Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093 for gene: DPAGT1
Publications for gene DPAGT1 were changed from 12872255; 22304930 to 27604308
Likely inborn error of metabolism v0.4 DPAGT1 Ellen McDonagh gene: DPAGT1 was added
gene: DPAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 12872255; 22304930
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093
Likely inborn error of metabolism v0.4 DOLK Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: DOLK
Publications for gene DOLK were changed from 27604308 to 24144945; 22242004
Likely inborn error of metabolism v0.4 DOLK Ellen McDonagh gene: DOLK was added
gene: DOLK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 27604308
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism v0.4 DNAJC19 Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type V for gene: DNAJC19
Publications for gene DNAJC19 were changed from 16055927; 27604308; 27426421; 22797137; 27928778 to 27604308; 27426421; 16055927; 27928778
Likely inborn error of metabolism v0.4 DNAJC19 Ellen McDonagh gene: DNAJC19 was added
gene: DNAJC19 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 16055927; 27604308; 27426421; 22797137; 27928778
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system
Likely inborn error of metabolism v0.4 DNAJC12 Ellen McDonagh gene: DNAJC12 was added
gene: DNAJC12 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC12 were set to 28132689
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Likely inborn error of metabolism v0.4 DLD Ellen McDonagh Added phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism); Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900 for gene: DLD
Publications for gene DLD were changed from to 27604308
Likely inborn error of metabolism v0.4 DLD Ellen McDonagh gene: DLD was added
gene: DLD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900
Likely inborn error of metabolism v0.4 DLAT Ellen McDonagh Added phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E2 deficiency, 245348 for gene: DLAT
Publications for gene DLAT were changed from to 27604308
Likely inborn error of metabolism v0.4 DLAT Ellen McDonagh gene: DLAT was added
gene: DLAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency, 245348
Likely inborn error of metabolism v0.4 DHODH Ellen McDonagh gene: DHODH was added
gene: DHODH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHODH were set to 27604308
Phenotypes for gene: DHODH were set to Unexplained skeletal dysplasia; Bilateral microtia; Deafness and congenital structural abnormalities; Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism v0.4 DHFR Ellen McDonagh gene: DHFR was added
gene: DHFR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 27604308
Phenotypes for gene: DHFR were set to Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport); Megaloblastic anemia due to dihydrofolate reductase deficiency
Likely inborn error of metabolism v0.4 DHDDS Ellen McDonagh Added phenotypes Retinitis pigmentosa 59 613861 for gene: DHDDS
Publications for gene DHDDS were changed from 27604308 to 21295282; 21295283; 27343064
Likely inborn error of metabolism v0.4 DHDDS Ellen McDonagh gene: DHDDS was added
gene: DHDDS was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 27604308
Phenotypes for gene: DHDDS were set to Posterior segment abnormalities; Retinitis pigmentosa (other congenital disorders of glycosylation)
Likely inborn error of metabolism v0.4 DHCR7 Ellen McDonagh gene: DHCR7 was added
gene: DHCR7 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 27604308
Phenotypes for gene: DHCR7 were set to Intellectual disability; IUGR and IGF abnormalities; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; Cataracts
Likely inborn error of metabolism v0.4 DHCR24 Ellen McDonagh gene: DHCR24 was added
gene: DHCR24 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR24 were set to 27604308
Phenotypes for gene: DHCR24 were set to Desmosterolosis (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Intellectual disability
Likely inborn error of metabolism v0.4 DGUOK Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity for gene: DGUOK
Likely inborn error of metabolism v0.4 DGUOK Ellen McDonagh gene: DGUOK was added
gene: DGUOK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 27604308
Phenotypes for gene: DGUOK were set to Deoxyguanosine kinase deficiency (Disorders of purine metabolism); Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v0.4 DDOST Ellen McDonagh gene: DDOST was added
gene: DDOST was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDOST were set to 22305527
Phenotypes for gene: DDOST were set to ?Congenital disorder of glycosylation, type Ir 614507
Likely inborn error of metabolism v0.4 DDC Ellen McDonagh gene: DDC was added
gene: DDC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDC were set to 27604308; 24816252
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency
Likely inborn error of metabolism v0.4 DCXR Ellen McDonagh gene: DCXR was added
gene: DCXR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCXR were set to 27604308
Phenotypes for gene: DCXR were set to [Pentosuria] 260800; Essential pentosuria (Disorders of pentose metabolism)
Likely inborn error of metabolism v0.4 DCC Ellen McDonagh gene: DCC was added
gene: DCC was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCC were set to 28250456
Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2
Likely inborn error of metabolism v0.4 DBT Ellen McDonagh gene: DBT was added
gene: DBT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBT were set to 27604308
Phenotypes for gene: DBT were set to Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria); Maple syrup urine disease, type II
Likely inborn error of metabolism v0.4 DBH Ellen McDonagh gene: DBH was added
gene: DBH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency
Likely inborn error of metabolism v0.4 DARS2 Ellen McDonagh Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DARS2
Publications for gene DARS2 were changed from to 27604308
Likely inborn error of metabolism v0.4 DARS2 Ellen McDonagh gene: DARS2 was added
gene: DARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism v0.4 DARS Ellen McDonagh Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity for gene: DARS
Likely inborn error of metabolism v0.4 DARS Ellen McDonagh gene: DARS was added
gene: DARS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Likely inborn error of metabolism v0.4 D2HGDH Ellen McDonagh gene: D2HGDH was added
gene: D2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 27604308
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria
Likely inborn error of metabolism v0.4 CYP7B1 Ellen McDonagh gene: CYP7B1 was added
gene: CYP7B1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 27604308; 9802883
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3
Likely inborn error of metabolism v0.4 CYP7A1 Ellen McDonagh gene: CYP7A1 was added
gene: CYP7A1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7A1 were set to 27604308
Phenotypes for gene: CYP7A1 were set to Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis); Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Likely inborn error of metabolism v0.4 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 27604308
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
Likely inborn error of metabolism v0.4 CYC1 Ellen McDonagh Added phenotypes Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 6, 615453 for gene: CYC1
Likely inborn error of metabolism v0.4 CYC1 Ellen McDonagh gene: CYC1 was added
gene: CYC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 6, 615453
Likely inborn error of metabolism v0.4 CUBN Ellen McDonagh gene: CUBN was added
gene: CUBN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUBN were set to Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism); Megaloblastic anemia-1, Finnish type; Proteinuric renal disease; Unexplained kidney failure in young people
Likely inborn error of metabolism v0.4 CTSK Ellen McDonagh gene: CTSK was added
gene: CTSK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to 27604308
Phenotypes for gene: CTSK were set to Pycnodysostosis
Likely inborn error of metabolism v0.4 CTSD Ellen McDonagh gene: CTSD was added
gene: CTSD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 CTSC Ellen McDonagh gene: CTSC was added
gene: CTSC was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 27604308
Phenotypes for gene: CTSC were set to Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia
Likely inborn error of metabolism v0.4 CTSA Ellen McDonagh gene: CTSA was added
gene: CTSA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSA were set to 27604308
Phenotypes for gene: CTSA were set to Galactosialidosis
Likely inborn error of metabolism v0.4 CTNS Ellen McDonagh gene: CTNS was added
gene: CTNS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 219750
Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic
Likely inborn error of metabolism v0.4 CTH Ellen McDonagh gene: CTH was added
gene: CTH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 CSTB Ellen McDonagh gene: CSTB was added
gene: CSTB was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 27604308
Phenotypes for gene: CSTB were set to Intellectual disability; Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders)
Likely inborn error of metabolism v0.4 CPT2 Ellen McDonagh gene: CPT2 was added
gene: CPT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 27604308; 24816252
Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Likely inborn error of metabolism v0.4 CPT1A Ellen McDonagh gene: CPT1A was added
gene: CPT1A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT1A were set to 27604308
Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle); CPT deficiency, hepatic, type IA
Likely inborn error of metabolism v0.4 CPS1 Ellen McDonagh gene: CPS1 was added
gene: CPS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 27604308; 24816252
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism v0.4 CP Ellen McDonagh gene: CP was added
gene: CP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Cerebellar ataxia
Likely inborn error of metabolism v0.4 COX8A Ellen McDonagh gene: COX8A was added
gene: COX8A was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX8A were set to PMID: 26685157
Phenotypes for gene: COX8A were set to Leigh-like syndrome and epilepsy
Likely inborn error of metabolism v0.4 COX6B1 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110 for gene: COX6B1
Publications for gene COX6B1 were changed from to 27604308
Likely inborn error of metabolism v0.4 COX6B1 Ellen McDonagh gene: COX6B1 was added
gene: COX6B1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110
Likely inborn error of metabolism v0.4 COX6A1 Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1
Likely inborn error of metabolism v0.4 COX6A1 Ellen McDonagh gene: COX6A1 was added
gene: COX6A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Likely inborn error of metabolism v0.4 COX4I2 Ellen McDonagh Added phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mitochondrial Diseases for gene: COX4I2
Likely inborn error of metabolism v0.4 COX4I2 Ellen McDonagh gene: COX4I2 was added
gene: COX4I2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 27604308
Phenotypes for gene: COX4I2 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
Likely inborn error of metabolism v0.4 COX20 Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX20
Publications for gene COX20 were changed from to 27604308
Likely inborn error of metabolism v0.4 COX20 Ellen McDonagh gene: COX20 was added
gene: COX20 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency
Likely inborn error of metabolism v0.4 COX15 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 for gene: COX15
Publications for gene COX15 were changed from to 27604308
Likely inborn error of metabolism v0.4 COX15 Ellen McDonagh gene: COX15 was added
gene: COX15 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Likely inborn error of metabolism v0.4 COX14 Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX14
Publications for gene COX14 were changed from PMID: 22243966 to 27604308
Likely inborn error of metabolism v0.4 COX14 Ellen McDonagh gene: COX14 was added
gene: COX14 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX14 were set to PMID: 22243966
Phenotypes for gene: COX14 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency
Likely inborn error of metabolism v0.4 COX10 Ellen McDonagh Added phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX10
Publications for gene COX10 were changed from to 27604308
Likely inborn error of metabolism v0.4 COX10 Ellen McDonagh gene: COX10 was added
gene: COX10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency
Likely inborn error of metabolism v0.4 COQ9 Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ9
Publications for gene COQ9 were changed from to 27604308
Likely inborn error of metabolism v0.4 COQ9 Ellen McDonagh gene: COQ9 was added
gene: COQ9 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis
Likely inborn error of metabolism v0.4 COQ8B Ellen McDonagh Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B
Publications for gene COQ8B were changed from PMID: 24270420 (8 unrelated families). to 24270420
Likely inborn error of metabolism v0.4 COQ8B Ellen McDonagh gene: COQ8B was added
gene: COQ8B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8B were set to PMID: 24270420 (8 unrelated families).
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9
Likely inborn error of metabolism v0.4 COQ8A Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016 for gene: COQ8A
Publications for gene COQ8A were changed from to 27604308
Likely inborn error of metabolism v0.4 COQ8A Ellen McDonagh gene: COQ8A was added
gene: COQ8A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016
Likely inborn error of metabolism v0.4 COQ7 Ellen McDonagh gene: COQ7 was added
gene: COQ7 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to PMID: 26084283
Phenotypes for gene: COQ7 were set to complex multisystem presentation; primary coenzyme Q10 deficiency
Likely inborn error of metabolism v0.4 COQ6 Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ6
Publications for gene COQ6 were changed from PMID: 21540551 to 27604308
Likely inborn error of metabolism v0.4 COQ6 Ellen McDonagh gene: COQ6 was added
gene: COQ6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ6 were set to PMID: 21540551
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of ubiquinone metabolism and biosynthesis
Likely inborn error of metabolism v0.4 COQ4 Ellen McDonagh Added phenotypes Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7 for gene: COQ4
Publications for gene COQ4 were changed from to 27604308
Likely inborn error of metabolism v0.4 COQ4 Ellen McDonagh gene: COQ4 was added
gene: COQ4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7
Likely inborn error of metabolism v0.4 COQ2 Ellen McDonagh Added phenotypes {Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426 for gene: COQ2
Publications for gene COQ2 were changed from to 27604308
Likely inborn error of metabolism v0.4 COQ2 Ellen McDonagh gene: COQ2 was added
gene: COQ2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to {Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426
Likely inborn error of metabolism v0.4 COG8 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG8
Publications for gene COG8 were changed from 27604308 to 17220172; 17331980; 11980916
Likely inborn error of metabolism v0.4 COG8 Ellen McDonagh gene: COG8 was added
gene: COG8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG8 were set to 27604308
Phenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Likely inborn error of metabolism v0.4 COG7 Ellen McDonagh Added phenotypes Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779 for gene: COG7
Publications for gene COG7 were changed from 15107842; 11980916 to 27604308
Likely inborn error of metabolism v0.4 COG7 Ellen McDonagh gene: COG7 was added
gene: COG7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG7 were set to 15107842; 11980916
Phenotypes for gene: COG7 were set to Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779
Likely inborn error of metabolism v0.4 COG6 Ellen McDonagh Added phenotypes Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576 for gene: COG6
Publications for gene COG6 were changed from 27604308 to 26260076; 11980916
Likely inborn error of metabolism v0.4 COG6 Ellen McDonagh gene: COG6 was added
gene: COG6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG6 were set to 27604308
Phenotypes for gene: COG6 were set to Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576
Likely inborn error of metabolism v0.4 COG5 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG5
Publications for gene COG5 were changed from 23228021; 23430875; 28960046; 19690088; 11980916 to 27604308
Likely inborn error of metabolism v0.4 COG5 Ellen McDonagh gene: COG5 was added
gene: COG5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 23228021; 23430875; 28960046; 19690088; 11980916
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Likely inborn error of metabolism v0.4 COG4 Ellen McDonagh Added phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489 for gene: COG4
Publications for gene COG4 were changed from 27604308 to 19651599; 21185756; 19494034; 11980916
Likely inborn error of metabolism v0.4 COG4 Ellen McDonagh gene: COG4 was added
gene: COG4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG4 were set to 27604308
Phenotypes for gene: COG4 were set to Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489
Likely inborn error of metabolism v0.4 COG2 Ellen McDonagh gene: COG2 was added
gene: COG2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG2 were set to 11980916; 24784932
Phenotypes for gene: COG2 were set to ?Congenital disorder of glycosylation, type IIq, 617395
Likely inborn error of metabolism v0.4 COG1 Ellen McDonagh Added phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209 for gene: COG1
Publications for gene COG1 were changed from to 27604308
Likely inborn error of metabolism v0.4 COG1 Ellen McDonagh gene: COG1 was added
gene: COG1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG1 were set to Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209
Likely inborn error of metabolism v0.4 COA6 Ellen McDonagh gene: COA6 was added
gene: COA6 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA6 were set to ?{Fatal infantile cardiomyopathy, association with}, 604377
Likely inborn error of metabolism v0.4 COA5 Ellen McDonagh Added phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COA5
Publications for gene COA5 were changed from to 27604308
Likely inborn error of metabolism v0.4 COA5 Ellen McDonagh gene: COA5 was added
gene: COA5 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA5 were set to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency
Likely inborn error of metabolism v0.4 COA3 Ellen McDonagh gene: COA3 was added
gene: COA3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: COA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA3 were set to Ostergaard et al., 2015, J. Med. Genet., 52, 203-207.
Likely inborn error of metabolism v0.4 CLPP Ellen McDonagh Added phenotypes Perrault syndrome 3, 614129 for gene: CLPP
Likely inborn error of metabolism v0.4 CLPP Ellen McDonagh gene: CLPP was added
gene: CLPP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3, 614129
Likely inborn error of metabolism v0.4 CLPB Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder for gene: CLPB
Publications for gene CLPB were changed from PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726 to 25597510; 25597511; 25650066; 25595726
Likely inborn error of metabolism v0.4 CLPB Ellen McDonagh gene: CLPB was added
gene: CLPB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Likely inborn error of metabolism v0.4 CLN8 Ellen McDonagh gene: CLN8 was added
gene: CLN8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8
Likely inborn error of metabolism v0.4 CLN6 Ellen McDonagh gene: CLN6 was added
gene: CLN6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 CLN5 Ellen McDonagh gene: CLN5 was added
gene: CLN5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 CLN3 Ellen McDonagh gene: CLN3 was added
gene: CLN3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 CLDN19 Ellen McDonagh gene: CLDN19 was added
gene: CLDN19 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 27604308
Phenotypes for gene: CLDN19 were set to Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Likely inborn error of metabolism v0.4 CLDN16 Ellen McDonagh gene: CLDN16 was added
gene: CLDN16 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 27604308
Phenotypes for gene: CLDN16 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism)
Likely inborn error of metabolism v0.4 CISD2 Ellen McDonagh gene: CISD2 was added
gene: CISD2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 27604308
Phenotypes for gene: CISD2 were set to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Intellectual disability
Likely inborn error of metabolism v0.4 CHSY1 Ellen McDonagh Added phenotypes Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHSY1
Publications for gene CHSY1 were changed from 27604308 to 24269551; 21129727
Likely inborn error of metabolism v0.4 CHSY1 Ellen McDonagh gene: CHSY1 was added
gene: CHSY1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHSY1 were set to 27604308
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism v0.4 CHST6 Ellen McDonagh Added phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800 for gene: CHST6
Publications for gene CHST6 were changed from 16568029 to 27604308
Likely inborn error of metabolism v0.4 CHST6 Ellen McDonagh gene: CHST6 was added
gene: CHST6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST6 were set to 16568029
Phenotypes for gene: CHST6 were set to CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800
Likely inborn error of metabolism v0.4 CHST3 Ellen McDonagh Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST3
Publications for gene CHST3 were changed from 27604308 to 20830804
Likely inborn error of metabolism v0.4 CHST3 Ellen McDonagh gene: CHST3 was added
gene: CHST3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 27604308
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism v0.4 CHST14 Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST14
Publications for gene CHST14 were changed from 26646600 to 27604308
Likely inborn error of metabolism v0.4 CHST14 Ellen McDonagh gene: CHST14 was added
gene: CHST14 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST14 were set to 26646600
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism v0.4 CHKB Ellen McDonagh Added phenotypes Muscular dystrophy, congenital, megaconial type, 602541 for gene: CHKB
Likely inborn error of metabolism v0.4 CHKB Ellen McDonagh gene: CHKB was added
gene: CHKB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 27604308
Phenotypes for gene: CHKB were set to Choline kinase deficiency (Disorders of complex lipid synthesis); Muscular dystrophy, congenital, megaconial type, 602541
Likely inborn error of metabolism v0.4 CEP89 Ellen McDonagh gene: CEP89 was added
gene: CEP89 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP89 were set to PMID: 23575228
Phenotypes for gene: CEP89 were set to isolated complex IV deficiency, intellectual disability and multisystemic problems
Likely inborn error of metabolism v0.4 CCDC115 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIo 616828 for gene: CCDC115
Likely inborn error of metabolism v0.4 CCDC115 Ellen McDonagh gene: CCDC115 was added
gene: CCDC115 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC115 were set to 26833332
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo 616828
Likely inborn error of metabolism v0.4 CBS Ellen McDonagh gene: CBS was added
gene: CBS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types
Likely inborn error of metabolism v0.4 CARS2 Ellen McDonagh gene: CARS2 was added
gene: CARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype
Likely inborn error of metabolism v0.4 CAD Ellen McDonagh gene: CAD was added
gene: CAD was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAD were set to ?Congenital disorder of glycosylation, type Iz 616457
Likely inborn error of metabolism v0.4 CA5A Ellen McDonagh gene: CA5A was added
gene: CA5A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA5A were set to 27604308
Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency; Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism v0.4 C19orf12 Ellen McDonagh Added phenotypes Mitochondrial Membrane Protein-Associated Neurodegeneration; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Likely inborn error of metabolism v0.4 C19orf12 Ellen McDonagh gene: C19orf12 was added
gene: C19orf12 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to 27604308
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Neurodegeneration with brain iron accumulation 4, 614298; Mitochondrial Membrane Protein-Associated Neurodegeneration
Likely inborn error of metabolism v0.4 C12orf65 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Publications for gene C12orf65 were changed from to 27604308
Likely inborn error of metabolism v0.4 C12orf65 Ellen McDonagh gene: C12orf65 was added
gene: C12orf65 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559
Likely inborn error of metabolism v0.4 BTD Ellen McDonagh Added phenotypes Biotinidase deficiency for gene: BTD
Likely inborn error of metabolism v0.4 BTD Ellen McDonagh gene: BTD was added
gene: BTD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 27604308
Phenotypes for gene: BTD were set to Biotinidase deficiency (Disorders of biotin metabolism); Biotinidase deficiency; lactic acidosis with seizures and eczema,immune deficiency
Likely inborn error of metabolism v0.4 BOLA3 Ellen McDonagh Added phenotypes Disorders of iron homeostasis; Multiple Mitochondrial Dysfunctions Syndrome; Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple mitochondrial dysfunctions syndrome 2, 614299; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: BOLA3
Publications for gene BOLA3 were changed from to 27604308
Likely inborn error of metabolism v0.4 BOLA3 Ellen McDonagh gene: BOLA3 was added
gene: BOLA3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple Mitochondrial Dysfunctions Syndrome; Multiple mitochondrial dysfunctions syndrome 2, 614299; Disorders of iron homeostasis
Likely inborn error of metabolism v0.4 BCS1L Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358; Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency for gene: BCS1L
Likely inborn error of metabolism v0.4 BCS1L Ellen McDonagh gene: BCS1L was added
gene: BCS1L was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 27604308
Phenotypes for gene: BCS1L were set to Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358
Likely inborn error of metabolism v0.4 BCKDK Ellen McDonagh gene: BCKDK was added
gene: BCKDK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDK were set to 27604308; 22956686
Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency
Likely inborn error of metabolism v0.4 BCKDHB Ellen McDonagh gene: BCKDHB was added
gene: BCKDHB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to 27604308
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib; BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Likely inborn error of metabolism v0.4 BCKDHA Ellen McDonagh gene: BCKDHA was added
gene: BCKDHA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHA were set to 27604308
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia; BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Likely inborn error of metabolism v0.4 BAAT Ellen McDonagh gene: BAAT was added
gene: BAAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BAAT were set to 27604308; 23415802
Phenotypes for gene: BAAT were set to Hypercholanemia, familial
Likely inborn error of metabolism v0.4 B4GALT7 Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) for gene: B4GALT7
Publications for gene B4GALT7 were changed from 27827381 to 27604308
Likely inborn error of metabolism v0.4 B4GALT7 Ellen McDonagh gene: B4GALT7 was added
gene: B4GALT7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 27827381
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Likely inborn error of metabolism v0.4 B4GALT1 Ellen McDonagh Added phenotypes Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 for gene: B4GALT1
Publications for gene B4GALT1 were changed from 27604308 to 11901181; 21920538
Likely inborn error of metabolism v0.4 B4GALT1 Ellen McDonagh gene: B4GALT1 was added
gene: B4GALT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT1 were set to 27604308
Phenotypes for gene: B4GALT1 were set to Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091
Likely inborn error of metabolism v0.4 B3GLCT Ellen McDonagh Added phenotypes Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GLCT
Publications for gene B3GLCT were changed from 27604308 to 23889335; 16909395
Likely inborn error of metabolism v0.4 B3GLCT Ellen McDonagh gene: B3GLCT was added
gene: B3GLCT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 27604308
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism v0.4 B3GAT3 Ellen McDonagh Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GAT3
Publications for gene B3GAT3 were changed from 27871226; 26086840; 21763480 to 27604308
Likely inborn error of metabolism v0.4 B3GAT3 Ellen McDonagh gene: B3GAT3 was added
gene: B3GAT3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 27871226; 26086840; 21763480
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism v0.4 B3GALT6 Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome, progeroid type, 2 for gene: B3GALT6
Likely inborn error of metabolism v0.4 B3GALT6 Ellen McDonagh gene: B3GALT6 was added
gene: B3GALT6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALT6 were set to 23664117; 23664118
Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2
Likely inborn error of metabolism v0.4 B3GALNT2 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 for gene: B3GALNT2
Likely inborn error of metabolism v0.4 B3GALNT2 Ellen McDonagh gene: B3GALNT2 was added
gene: B3GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to 23453667
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
Likely inborn error of metabolism v0.4 AUH Ellen McDonagh gene: AUH was added
gene: AUH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AUH were set to 27604308
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I; Methylglutaconic aciduria type I (Organic acidurias)
Likely inborn error of metabolism v0.4 ATPAF2 Ellen McDonagh Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Isolated complex V deficiency; Mitochondrial Diseases; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: ATPAF2
Publications for gene ATPAF2 were changed from 27604308 to 14757859; 19933271
Likely inborn error of metabolism v0.4 ATPAF2 Ellen McDonagh gene: ATPAF2 was added
gene: ATPAF2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATPAF2 were set to 27604308
Phenotypes for gene: ATPAF2 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex V deficiency; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
Likely inborn error of metabolism v0.4 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 27604308
Phenotypes for gene: ATP7B were set to Wilson disease
Likely inborn error of metabolism v0.4 ATP6V0A2 Ellen McDonagh Added phenotypes V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250 for gene: ATP6V0A2
Publications for gene ATP6V0A2 were changed from 20301755 to 27604308
Likely inborn error of metabolism v0.4 ATP6V0A2 Ellen McDonagh gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A2 were set to 20301755
Phenotypes for gene: ATP6V0A2 were set to V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250
Likely inborn error of metabolism v0.4 ATP5A1 Ellen McDonagh Added phenotypes ?Combined oxidative phosphorylation deficiency 22; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 for gene: ATP5A1
Publications for gene ATP5A1 were changed from 27604308 to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Likely inborn error of metabolism v0.4 ATP5A1 Ellen McDonagh gene: ATP5A1 was added
gene: ATP5A1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5A1 were set to 27604308
Phenotypes for gene: ATP5A1 were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Combined oxidative phosphorylation deficiency 22 616045
Likely inborn error of metabolism v0.4 ATP13A2 Ellen McDonagh gene: ATP13A2 was added
gene: ATP13A2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome
Likely inborn error of metabolism v0.4 ATIC Ellen McDonagh gene: ATIC was added
gene: ATIC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATIC were set to 27604308
Phenotypes for gene: ATIC were set to Intellectual disability; AICAR transformylase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism v0.4 ASS1 Ellen McDonagh gene: ASS1 was added
gene: ASS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASS1 were set to 27604308
Phenotypes for gene: ASS1 were set to Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias); Citrullinemia
Likely inborn error of metabolism v0.4 ASPA Ellen McDonagh gene: ASPA was added
gene: ASPA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to 27604308
Phenotypes for gene: ASPA were set to Canavan disease
Likely inborn error of metabolism v0.4 ASL Ellen McDonagh gene: ASL was added
gene: ASL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 27604308
Phenotypes for gene: ASL were set to Argininosuccinic aciduria; Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism v0.4 ASAH1 Ellen McDonagh gene: ASAH1 was added
gene: ASAH1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 27604308
Phenotypes for gene: ASAH1 were set to Farber disease (Sphingolipidoses); Intellectual disability; Fetal hydrops
Likely inborn error of metabolism v0.4 ARSB Ellen McDonagh gene: ARSB was added
gene: ARSB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSB were set to 27604308
Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6; Mucopolysaccharidosis, Type VI; Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
Likely inborn error of metabolism v0.4 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSA were set to 27604308; 24816252
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy
Likely inborn error of metabolism v0.4 ARG1 Ellen McDonagh gene: ARG1 was added
gene: ARG1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 27604308
Phenotypes for gene: ARG1 were set to Argininaemia (Urea cycle disorders and inherited hyperammonaemias); Argininemia 207800
Likely inborn error of metabolism v0.4 APTX Ellen McDonagh Added phenotypes Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis for gene: APTX
Likely inborn error of metabolism v0.4 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APTX were set to 27604308
Phenotypes for gene: APTX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis
Likely inborn error of metabolism v0.4 APRT Ellen McDonagh gene: APRT was added
gene: APRT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to 27604308
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency 614723; Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism v0.4 APOPT1 Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: APOPT1
Likely inborn error of metabolism v0.4 APOPT1 Ellen McDonagh gene: APOPT1 was added
gene: APOPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency
Likely inborn error of metabolism v0.4 APOC2 Ellen McDonagh gene: APOC2 was added
gene: APOC2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOC2 were set to 27604308
Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib 207750; Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Likely inborn error of metabolism v0.4 ANO10 Ellen McDonagh Added phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 for gene: ANO10
Likely inborn error of metabolism v0.4 ANO10 Ellen McDonagh gene: ANO10 was added
gene: ANO10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10, 613728
Likely inborn error of metabolism v0.4 AMT Ellen McDonagh gene: AMT was added
gene: AMT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMT were set to 27604308
Phenotypes for gene: AMT were set to Glycine encephalopathy
Likely inborn error of metabolism v0.4 AMPD1 Ellen McDonagh gene: AMPD1 was added
gene: AMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD1 were set to 27604308
Phenotypes for gene: AMPD1 were set to Myoadenylate deaminase deficiency (Disorders of purine metabolism); Myopathy due to myoadenylate deaminase deficiency 615511
Likely inborn error of metabolism v0.4 AMN Ellen McDonagh gene: AMN was added
gene: AMN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 27604308
Phenotypes for gene: AMN were set to Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism); Proteinuric renal disease; Unexplained kidney failure in young people
Likely inborn error of metabolism v0.4 AMACR Ellen McDonagh gene: AMACR was added
gene: AMACR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 27604308
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency; Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism v0.4 ALG9 Ellen McDonagh Added phenotypes Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776 for gene: ALG9
Publications for gene ALG9 were changed from 27604308; 15148656; 25966638 to 27604308
Likely inborn error of metabolism v0.4 ALG9 Ellen McDonagh gene: ALG9 was added
gene: ALG9 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 27604308; 15148656; 25966638
Phenotypes for gene: ALG9 were set to Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776
Likely inborn error of metabolism v0.4 ALG8 Ellen McDonagh Added phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104 for gene: ALG8
Publications for gene ALG8 were changed from 12480927; 15235028 to 27604308
Likely inborn error of metabolism v0.4 ALG8 Ellen McDonagh gene: ALG8 was added
gene: ALG8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 12480927; 15235028
Phenotypes for gene: ALG8 were set to Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104
Likely inborn error of metabolism v0.4 ALG6 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) for gene: ALG6
Publications for gene ALG6 were changed from 10914684 to 27604308
Likely inborn error of metabolism v0.4 ALG6 Ellen McDonagh gene: ALG6 was added
gene: ALG6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG6 were set to 10914684
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 ALG3 Ellen McDonagh Added phenotypes Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110 for gene: ALG3
Publications for gene ALG3 were changed from 27604308 to 15108280; 19862844
Likely inborn error of metabolism v0.4 ALG3 Ellen McDonagh gene: ALG3 was added
gene: ALG3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 27604308
Phenotypes for gene: ALG3 were set to Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110; Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation); ALG3-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 ALG2 Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906 for gene: ALG2
Publications for gene ALG2 were changed from 27604308 to 12684507; 23404334
Likely inborn error of metabolism v0.4 ALG2 Ellen McDonagh gene: ALG2 was added
gene: ALG2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG2 were set to 27604308
Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906
Likely inborn error of metabolism v0.4 ALG14 Ellen McDonagh Added phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: ALG14
Publications for gene ALG14 were changed from 27604308 to 27604308; 23404334
Likely inborn error of metabolism v0.4 ALG14 Ellen McDonagh gene: ALG14 was added
gene: ALG14 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 27604308
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 ALG12 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) for gene: ALG12
Publications for gene ALG12 were changed from 27604308 to 27604308; 17506107; 11983712
Likely inborn error of metabolism v0.4 ALG12 Ellen McDonagh gene: ALG12 was added
gene: ALG12 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG12 were set to 27604308
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism v0.4 ALG11 Ellen McDonagh Added phenotypes ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 for gene: ALG11
Publications for gene ALG11 were changed from 27604308; 22213132 to 27604308
Likely inborn error of metabolism v0.4 ALG11 Ellen McDonagh gene: ALG11 was added
gene: ALG11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG11 were set to 27604308; 22213132
Phenotypes for gene: ALG11 were set to ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661
Likely inborn error of metabolism v0.4 ALG1 Ellen McDonagh Added phenotypes Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540 for gene: ALG1
Publications for gene ALG1 were changed from 27604308 to 22966035; 14973782; 26931382
Likely inborn error of metabolism v0.4 ALG1 Ellen McDonagh gene: ALG1 was added
gene: ALG1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG1 were set to 27604308
Phenotypes for gene: ALG1 were set to Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540
Likely inborn error of metabolism v0.4 ALDOB Ellen McDonagh gene: ALDOB was added
gene: ALDOB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOB were set to 27604308
Phenotypes for gene: ALDOB were set to hereditary fructose intolerance; Hereditary fructose intolerance (Disorders of fructose metabolism); acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
Likely inborn error of metabolism v0.4 ALDOA Ellen McDonagh gene: ALDOA was added
gene: ALDOA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 27604308
Phenotypes for gene: ALDOA were set to Glycogen Storage Disease; Aldolase A deficiency (Glycogen storage disorders); Glycogen storage disease XII, 611881
Likely inborn error of metabolism v0.4 ALDH7A1 Ellen McDonagh gene: ALDH7A1 was added
gene: ALDH7A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH7A1 were set to 27604308
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent
Likely inborn error of metabolism v0.4 ALDH6A1 Ellen McDonagh gene: ALDH6A1 was added
gene: ALDH6A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH6A1 were set to 27604308
Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency 614105; 3-Hydroxyisobutyric aciduria (Organic acidurias); Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
Likely inborn error of metabolism v0.4 ALDH5A1 Ellen McDonagh gene: ALDH5A1 was added
gene: ALDH5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH5A1 were set to 27604308
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency
Likely inborn error of metabolism v0.4 ALDH4A1 Ellen McDonagh gene: ALDH4A1 was added
gene: ALDH4A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 27604308
Phenotypes for gene: ALDH4A1 were set to Intellectual disability; Hyperprolinaemia type II (Disorders of ornithine or proline metabolism); Hyperprolinemia, type II
Likely inborn error of metabolism v0.4 ALDH3A2 Ellen McDonagh gene: ALDH3A2 was added
gene: ALDH3A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 27604308
Phenotypes for gene: ALDH3A2 were set to Intellectual disability; Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders
Likely inborn error of metabolism v0.4 ALDH18A1 Ellen McDonagh gene: ALDH18A1 was added
gene: ALDH18A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 27604308; 24816252
Phenotypes for gene: ALDH18A1 were set to Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Likely inborn error of metabolism v0.4 ALAD Ellen McDonagh gene: ALAD was added
gene: ALAD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALAD were set to 27604308
Phenotypes for gene: ALAD were set to {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias); Porphyria, acute hepatic 612740
Likely inborn error of metabolism v0.4 AKR1D1 Ellen McDonagh gene: AKR1D1 was added
gene: AKR1D1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1D1 were set to 27604308; 24816252
Phenotypes for gene: AKR1D1 were set to ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 2 235555
Likely inborn error of metabolism v0.4 AHCY Ellen McDonagh gene: AHCY was added
gene: AHCY was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 27604308
Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids)
Likely inborn error of metabolism v0.4 AGXT Ellen McDonagh gene: AGXT was added
gene: AGXT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 27604308
Phenotypes for gene: AGXT were set to Primary hyperoxaluria type I (Other peroxisomal disorders); Primary hyperoxaluria type I (Disorders of glyoxylate metabolism); Hyperoxaluria, primary, type 1
Likely inborn error of metabolism v0.4 AGPS Ellen McDonagh gene: AGPS was added
gene: AGPS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPS were set to 27604308
Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3 600121; Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
Likely inborn error of metabolism v0.4 AGL Ellen McDonagh gene: AGL was added
gene: AGL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 27604308
Phenotypes for gene: AGL were set to Glycogen storage disease type III, Cori (Glycogen storage disorders); Glycogen storage disease IIIb, 232400; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; Glycogen Storage Disease Type III; Glycogen Storage Disorders- Muscle; Glycogen storage disease IIIa, 232400
Likely inborn error of metabolism v0.4 AGK Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 10; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis); Sengers syndrome, 212350; Sengers syndrome 212350; Disorders of mitochondrial lipid metabolism; Cataract 38, autosomal recessive, 614691 for gene: AGK
Publications for gene AGK were changed from to 27604308
Likely inborn error of metabolism v0.4 AGK Ellen McDonagh gene: AGK was added
gene: AGK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Cataract 38, autosomal recessive, 614691; Mitochondrial DNA depletion syndrome 10; Sengers syndrome, 212350; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of mitochondrial lipid metabolism
Likely inborn error of metabolism v0.4 AGA Ellen McDonagh gene: AGA was added
gene: AGA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGA were set to 27604308
Phenotypes for gene: AGA were set to Aspartylglucosaminuria
Likely inborn error of metabolism v0.4 ADSL Ellen McDonagh gene: ADSL was added
gene: ADSL was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSL were set to 27604308
Phenotypes for gene: ADSL were set to Intellectual disability; Epileptic encephalopathy; Adenylosuccinate lyase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism v0.4 ADA Ellen McDonagh gene: ADA was added
gene: ADA was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 27604308
Phenotypes for gene: ADA were set to Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease
Likely inborn error of metabolism v0.4 ACY1 Ellen McDonagh gene: ACY1 was added
gene: ACY1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 27604308
Phenotypes for gene: ACY1 were set to Intellectual disability; Aminoacylase 1 deficiency (Organic acidurias)
Likely inborn error of metabolism v0.4 ACSF3 Ellen McDonagh gene: ACSF3 was added
gene: ACSF3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSF3 were set to 27604308
Phenotypes for gene: ACSF3 were set to Combined methylmalonic and malonic aciduria (Organic acidurias); Combined malonic and methylmalonic aciduria
Likely inborn error of metabolism v0.4 ACOX1 Ellen McDonagh gene: ACOX1 was added
gene: ACOX1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX1 were set to 27604308
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency; Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism v0.4 ACO2 Ellen McDonagh Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2
Likely inborn error of metabolism v0.4 ACO2 Ellen McDonagh gene: ACO2 was added
gene: ACO2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559
Likely inborn error of metabolism v0.4 ACAT1 Ellen McDonagh gene: ACAT1 was added
gene: ACAT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 27604308
Phenotypes for gene: ACAT1 were set to Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism); Fasting intolerance with acidosis, ? residual neurological problems; 3-Oxothiolase deficiency (Organic acidurias)
Likely inborn error of metabolism v0.4 ACADVL Ellen McDonagh gene: ACADVL was added
gene: ACADVL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 27604308
Phenotypes for gene: ACADVL were set to VLCAD deficiency; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism v0.4 ACADSB Ellen McDonagh gene: ACADSB was added
gene: ACADSB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADSB were set to 27604308
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria 610006; 2-Methylbutyric aciduria (Organic acidurias)
Likely inborn error of metabolism v0.4 ACADS Ellen McDonagh gene: ACADS was added
gene: ACADS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADS were set to 27604308; 24816252
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of
Likely inborn error of metabolism v0.4 ACADM Ellen McDonagh gene: ACADM was added
gene: ACADM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADM were set to 27604308; 24816252
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism v0.4 ACAD9 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: ACAD9
Publications for gene ACAD9 were changed from PMID:17564966; 21057504 to 27604308
Likely inborn error of metabolism v0.4 ACAD9 Ellen McDonagh gene: ACAD9 was added
gene: ACAD9 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD9 were set to PMID:17564966; 21057504
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Isolated complex I deficiency
Likely inborn error of metabolism v0.4 ACAD8 Ellen McDonagh gene: ACAD8 was added
gene: ACAD8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD8 were set to 27604308
Phenotypes for gene: ACAD8 were set to Isobutyric aciduria (Organic acidurias)
Likely inborn error of metabolism v0.4 ABHD5 Ellen McDonagh gene: ABHD5 was added
gene: ABHD5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 27604308
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome 275630; Neutral lipid storage disease (Disorders of lipolysis)
Likely inborn error of metabolism v0.4 ABHD12 Ellen McDonagh gene: ABHD12 was added
gene: ABHD12 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD12 were set to 27604308
Phenotypes for gene: ABHD12 were set to Hereditary ataxia; Posterior segment abnormalities; Congenital hearing impairment (profound/severe); PHARC syndrome (Disorders of complex lipid synthesis)
Likely inborn error of metabolism v0.4 ABCG8 Ellen McDonagh gene: ABCG8 was added
gene: ABCG8 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG8 were set to 27604308
Phenotypes for gene: ABCG8 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia
Likely inborn error of metabolism v0.4 ABCG5 Ellen McDonagh gene: ABCG5 was added
gene: ABCG5 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG5 were set to 27604308
Phenotypes for gene: ABCG5 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia
Likely inborn error of metabolism v0.4 ABCD4 Ellen McDonagh gene: ABCD4 was added
gene: ABCD4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD4 were set to 27604308; 23141461; 25234635
Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type
Likely inborn error of metabolism v0.4 ABCB11 Ellen McDonagh gene: ABCB11 was added
gene: ABCB11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 27604308
Phenotypes for gene: ABCB11 were set to Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport); Cholestasis, benign recurrent intrahepatic, 2 605479; Cholestasis, progressive familial intrahepatic 2 601847
Likely inborn error of metabolism v0.4 ABCA1 Ellen McDonagh gene: ABCA1 was added
gene: ABCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA1 were set to 27604308
Phenotypes for gene: ABCA1 were set to Tangier disease (Disorders of high density lipoprotein metabolism)
Likely inborn error of metabolism v0.4 ABAT Ellen McDonagh Added phenotypes mtDNA depletion syndrome; 613163; GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) for gene: ABAT
Publications for gene ABAT were changed from Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 to 27604308
Likely inborn error of metabolism v0.4 ABAT Ellen McDonagh gene: ABAT was added
gene: ABAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457
Phenotypes for gene: ABAT were set to 613163; mtDNA depletion syndrome
Likely inborn error of metabolism v0.4 AASS Ellen McDonagh gene: AASS was added
gene: AASS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AASS were set to 27604308
Phenotypes for gene: AASS were set to Intellectual disability; Hyperlysinemia; Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism v0.4 AARS2 Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Combined oxidative phosphorylation deficiency 8, 614096; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile mitochondrial cardiomyopathy for gene: AARS2
Publications for gene AARS2 were changed from 25058219; PMID: 21549344 to 27604308
Likely inborn error of metabolism v0.4 AARS2 Ellen McDonagh gene: AARS2 was added
gene: AARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 25058219; PMID: 21549344
Phenotypes for gene: AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy
Intellectual disability v2.584 ZBTB11 Konstantinos Varvagiannis gene: ZBTB11 was added
gene: ZBTB11 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 29893856; 28382966
Phenotypes for gene: ZBTB11 were set to Intellectual disability
Penetrance for gene: ZBTB11 were set to Complete
Review for gene: ZBTB11 was set to AMBER
Added comment: Fattahi et al. (PMID: 29893856) report on 9 individuals from 2 broader consanguineous pedigrees with biallelic ZBTB11 mutations.

Features in the first family (from Iran) consisted of moderate ID, microcephaly, ataxic gait, and spasticity with MRI findings of cerebellar atrophy and ventriculomegaly.

Individuals from the second family (from Pakistan) presented with moderate ID and variable features.

Homozygosity for missense ZBTB11 variants, private to each family was shown (NM_014415.3:c.2185C>T / p.H729Y and c.2640T>G / p.H880Q for the first and second family respectively).

As the authors note, ZBTB11 is predicted to be a zinc finger transcriptional regulator and one of the hypotheses emitted suggests possible disruption of DNA binding.

Functional studies performed demonstrated that the mutant proteins were excluded from the nucleolus where the (wt) protein localizes.

Previous zebrafish models (PMID: 28382966) suggested CNS degeneration among other phenotypes in Zbtb11 mutants.

Knockdown of the drosophila ZBTB11-ortholog (CkIIα-i1) resulted in recognizable shrinking of the mushroom body with significant reduction in the number of neurons compared to controls.

Other Zinc Finger and BTB Domain-Containing proteins cause disorders with ID as a prominent feature (eg. ZBTB16, ZBTB20, etc.).

ZBTB11 is not associated with any phenotype in OMIM nor in G2P.

As a result, this gene can be considered for inclusion in this panel probably as amber (2 pedigrees only) or green (given the supportive functional studies).
Sources: Literature
Intellectual disability v2.584 NR4A2 Konstantinos Varvagiannis gene: NR4A2 was added
gene: NR4A2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR4A2 were set to 29770430; 30504930; 28544326; 27569545; 23554088; 28135719; 27479843; 25363768
Phenotypes for gene: NR4A2 were set to Language impairment; Intellectual disability; Autism; Behavioral abnormality
Penetrance for gene: NR4A2 were set to unknown
Review for gene: NR4A2 was set to GREEN
gene: NR4A2 was marked as current diagnostic
Added comment: Recent publications provide several lines of evidence that pathogenic NR4A2 variants cause DD/ID and/or autism spectrum disorder (ASD).

Lévy et al. (PMID: 29770430) summarize the phenotype of 2q24.1 microdeletions spanning either only NR4A2 [2 new patients as well as an individual reported by Reuter et al (PMID: 28544326)] or both NR4A2 and GPD2 (1 patient from this study as well as 2 further from Leppa et al. (PMID: 27569545) and Barge-Schaapveld et al. (PMID: 23554088)]. All these CNVs had occurred as de novo events. Common features included - among others - language impairment (6/6), ID (6/6), ASD (3/4) or abnormal behaviour (4/4).

As the authors note, NR4A2 belongs to a subfamily of highly conserved transcription factors. The gene is involved in several developmental processes, among others in neuronal development. Previous studies have also shown high expression in human fetal brain as well as a role in the development of language-related brain regions.

The absence of CNVs in general population encompassing NR4A2 (and presence of such CNVs spanning GDP2) as well as the minimal deletions confined to NR4A2 suggest that happloinsufficiency of NR4A2 is responsible for the DD/ID/ASD phenotypes. This is also supported by the HI index of 1.28 as well as pLI of 0.99.

Guo et al. (PMID: 30504930) report on a patient with de novo frameshift variant (p.P201Rfs*82) and provide a summary of individuals with de novo missense variants reported in larger DD/ID/ASD cohorts, namely :

- The DDD study (PMID: 28135719) : subjects DDD4K.00386 (R312Q - https://decipher.sanger.ac.uk/ddd/research-variant/1e7622c3a0ba1b506c5808ccea46e759#overview) and DDD4K.04161 (R289P - https://decipher.sanger.ac.uk/ddd/research-variant/673e8e570d28dd0c5797ddafb22e53eb#overview)

- By Lelieveld et al. (PMID: 27479843) : patient with ID and V307G

- By Iossifov et al. (PMID: 25363768) : subject with ASD and Y275H.

[All these appear to cluster in a region of missense constraint : https://decipher.sanger.ac.uk/gene/NR4A2#overview/protein-info].

NR4A2 is not associated with any phenotype in OMIM, nor in G2P.

The gene is included in gene panels for intellectual disability offered by diagnostic laboratories (incl. Radboudumc).

As a result, it could be considered for inclusion in this panel possibly as green (or amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Hereditary ataxia with onset in adulthood v0.2 ISCA-37468-Loss Eleanor Williams Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone
Hereditary ataxia with onset in adulthood v0.2 ISCA-37478-Loss Eleanor Williams Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105830
Hereditary ataxia with onset in adulthood v0.2 ISCA-37478-Gain Eleanor Williams Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 9106540; 16840569
Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome
Hereditary ataxia with onset in adulthood v0.2 ISCA-37404-Loss Eleanor Williams Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105831
Hereditary ataxia with onset in adulthood v0.2 ZNF592 Eleanor Williams gene: ZNF592 was added
gene: ZNF592 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5
Hereditary ataxia with onset in adulthood v0.2 ZFYVE26 Eleanor Williams gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 25842392; 25497598
Phenotypes for gene: ZFYVE26 were set to Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.
Hereditary ataxia with onset in adulthood v0.2 XRCC1 Eleanor Williams gene: XRCC1 was added
gene: XRCC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403
Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
Hereditary ataxia with onset in adulthood v0.2 WWOX Eleanor Williams gene: WWOX was added
gene: WWOX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12 (#614322)
Hereditary ataxia with onset in adulthood v0.2 WFS1 Eleanor Williams gene: WFS1 was added
gene: WFS1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 WDR81 Eleanor Williams gene: WDR81 was added
gene: WDR81 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Hereditary ataxia with onset in adulthood v0.2 WDR73 Eleanor Williams gene: WDR73 was added
gene: WDR73 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
Hereditary ataxia with onset in adulthood v0.2 VRK1 Eleanor Williams gene: VRK1 was added
gene: VRK1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia 1A (#607596)
Hereditary ataxia with onset in adulthood v0.2 VPS53 Eleanor Williams gene: VPS53 was added
gene: VPS53 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 24577744
Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia 2E (#615851)
Hereditary ataxia with onset in adulthood v0.2 VPS13D Eleanor Williams gene: VPS13D was added
gene: VPS13D was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13D were set to spastic ataxia
Hereditary ataxia with onset in adulthood v0.2 VLDLR Eleanor Williams gene: VLDLR was added
gene: VLDLR was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 VAMP1 Eleanor Williams gene: VAMP1 was added
gene: VAMP1 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
Hereditary ataxia with onset in adulthood v0.2 UCHL1 Eleanor Williams gene: UCHL1 was added
gene: UCHL1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UCHL1 were set to 23359680
Phenotypes for gene: UCHL1 were set to Early onset ataxia and optic neuropathy
Hereditary ataxia with onset in adulthood v0.2 UBR4 Eleanor Williams gene: UBR4 was added
gene: UBR4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to 23982692
Phenotypes for gene: UBR4 were set to Episodic ataxia
Hereditary ataxia with onset in adulthood v0.2 TWNK Eleanor Williams gene: TWNK was added
gene: TWNK was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant)
Hereditary ataxia with onset in adulthood v0.2 TUBB4A Eleanor Williams gene: TUBB4A was added
gene: TUBB4A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to 25497598
Phenotypes for gene: TUBB4A were set to Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia
Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 TTPA Eleanor Williams gene: TTPA was added
gene: TTPA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with Vitamin E Deficiency; Ataxia with isolated vitamin E deficiency
Hereditary ataxia with onset in adulthood v0.2 TTC19 Eleanor Williams gene: TTC19 was added
gene: TTC19 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Nuclear type mitochondrial complex III deficiency (#615157)
Hereditary ataxia with onset in adulthood v0.2 TTBK2 Eleanor Williams gene: TTBK2 was added
gene: TTBK2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11
Hereditary ataxia with onset in adulthood v0.2 TSEN54 Eleanor Williams gene: TSEN54 was added
gene: TSEN54 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)
Hereditary ataxia with onset in adulthood v0.2 TSEN34 Eleanor Williams gene: TSEN34 was added
gene: TSEN34 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia 2C (612390)
Hereditary ataxia with onset in adulthood v0.2 TSEN2 Eleanor Williams gene: TSEN2 was added
gene: TSEN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389)
Hereditary ataxia with onset in adulthood v0.2 TPP1 Eleanor Williams gene: TPP1 was added
gene: TPP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Neuronal ceroid lipfuscinosis 7 (204500); Autosomal recessive spinocerebellar ataxia 7 (#607998)
Hereditary ataxia with onset in adulthood v0.2 TMEM240 Eleanor Williams gene: TMEM240 was added
gene: TMEM240 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21 (#616101)
Hereditary ataxia with onset in adulthood v0.2 TGM6 Eleanor Williams gene: TGM6 was added
gene: TGM6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35
Hereditary ataxia with onset in adulthood v0.2 TDP1 Eleanor Williams gene: TDP1 was added
gene: TDP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Hereditary ataxia with onset in adulthood v0.2 TBP Eleanor Williams gene: TBP was added
gene: TBP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: TBP was set to Unknown
Phenotypes for gene: TBP were set to Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600
Mode of pathogenicity for gene: TBP was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 SYT14 Eleanor Williams gene: SYT14 was added
gene: SYT14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYT14 were set to Spinocerebellarataxia,autosomalrecessive11,614229
Hereditary ataxia with onset in adulthood v0.2 SYNE1 Eleanor Williams gene: SYNE1 was added
gene: SYNE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8
Hereditary ataxia with onset in adulthood v0.2 STUB1 Eleanor Williams gene: STUB1 was added
gene: STUB1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16
Hereditary ataxia with onset in adulthood v0.2 SRD5A3 Eleanor Williams gene: SRD5A3 was added
gene: SRD5A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 SPTBN2 Eleanor Williams gene: SPTBN2 was added
gene: SPTBN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar ataxia 5; Spinocerebellar Ataxia, Dominant; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)
Hereditary ataxia with onset in adulthood v0.2 SPR Eleanor Williams gene: SPR was added
gene: SPR was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Hereditary ataxia with onset in adulthood v0.2 SPG7 Eleanor Williams gene: SPG7 was added
gene: SPG7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 25681447
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
Hereditary ataxia with onset in adulthood v0.2 SNX14 Eleanor Williams gene: SNX14 was added
gene: SNX14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354)
Hereditary ataxia with onset in adulthood v0.2 SLC9A6 Eleanor Williams gene: SLC9A6 was added
gene: SLC9A6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
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)
Hereditary ataxia with onset in adulthood v0.2 SLC6A5 Eleanor Williams gene: SLC6A5 was added
gene: SLC6A5 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Hereditary ataxia with onset in adulthood v0.2 SLC2A1 Eleanor Williams gene: SLC2A1 was added
gene: SLC2A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1
Hereditary ataxia with onset in adulthood v0.2 SLC1A3 Eleanor Williams gene: SLC1A3 was added
gene: SLC1A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6
Hereditary ataxia with onset in adulthood v0.2 SIL1 Eleanor Williams gene: SIL1 was added
gene: SIL1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 SETX Eleanor Williams gene: SETX was added
gene: SETX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia; Ataxia-ocular apraxia-2
Hereditary ataxia with onset in adulthood v0.2 SEPSECS Eleanor Williams gene: SEPSECS was added
gene: SEPSECS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D (613811)
Hereditary ataxia with onset in adulthood v0.2 SCN9A Eleanor Williams gene: SCN9A was added
gene: SCN9A was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Dysosteosclerosis; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Erythermalgia, primary, 133020; Erythermalgia, Primary
Hereditary ataxia with onset in adulthood v0.2 SCN8A Eleanor Williams gene: SCN8A was added
gene: SCN8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to paroxysmal kinesigenic dyskinesias; epilepsy; Cognitive impairment with or without cerebellar ataxia, 614306
Hereditary ataxia with onset in adulthood v0.2 SCN1A Eleanor Williams gene: SCN1A was added
gene: SCN1A was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3
Hereditary ataxia with onset in adulthood v0.2 SAR1B Eleanor Williams gene: SAR1B was added
gene: SAR1B was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease 246700
Hereditary ataxia with onset in adulthood v0.2 SACS Eleanor Williams gene: SACS was added
gene: SACS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type
Hereditary ataxia with onset in adulthood v0.2 RUBCN Eleanor Williams gene: RUBCN was added
gene: RUBCN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUBCN were set to 20826435
Hereditary ataxia with onset in adulthood v0.2 RNF216 Eleanor Williams gene: RNF216 was added
gene: RNF216 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Hereditary ataxia with onset in adulthood v0.2 RNF170 Eleanor Williams gene: RNF170 was added
gene: RNF170 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant
Hereditary ataxia with onset in adulthood v0.2 RELN Eleanor Williams gene: RELN was added
gene: RELN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 RARS2 Eleanor Williams gene: RARS2 was added
gene: RARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to epilepsy; Pontocerebellar hypoplasia
Hereditary ataxia with onset in adulthood v0.2 PRRT2 Eleanor Williams gene: PRRT2 was added
gene: PRRT2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRRT2 were set to 22744660; 22101681; 22120146; 22399141
Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Hereditary ataxia with onset in adulthood v0.2 PRNP Eleanor Williams gene: PRNP was added
gene: PRNP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRNP were set to Gerstmann-Straussler disease; Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Insomnia, fatal familial; Huntington disease-like 1
Hereditary ataxia with onset in adulthood v0.2 PRKCG Eleanor Williams gene: PRKCG was added
gene: PRKCG was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14
Hereditary ataxia with onset in adulthood v0.2 PRICKLE1 Eleanor Williams gene: PRICKLE1 was added
gene: PRICKLE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Progressive Myoclonus Epilepsy with Ataxia
Hereditary ataxia with onset in adulthood v0.2 PPP2R2B Eleanor Williams gene: PPP2R2B was added
gene: PPP2R2B was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: PPP2R2B was set to Unknown
Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326
Mode of pathogenicity for gene: PPP2R2B was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 POLR3A Eleanor Williams gene: POLR3A was added
gene: POLR3A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 21855841; 25655951
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia
Hereditary ataxia with onset in adulthood v0.2 POLG Eleanor Williams gene: POLG was added
gene: POLG was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Hereditary ataxia with onset in adulthood v0.2 PNPLA6 Eleanor Williams gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Oliver-McFarlane syndrome (#603197)
Hereditary ataxia with onset in adulthood v0.2 PNKP Eleanor Williams gene: PNKP was added
gene: PNKP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267)
Hereditary ataxia with onset in adulthood v0.2 PNKD Eleanor Williams gene: PNKD was added
gene: PNKD was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to 15262732; 15496428; 15824259
Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
Hereditary ataxia with onset in adulthood v0.2 PMPCA Eleanor Williams gene: PMPCA was added
gene: PMPCA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCA were set to 25808372
Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Hereditary ataxia with onset in adulthood v0.2 PLA2G6 Eleanor Williams gene: PLA2G6 was added
gene: PLA2G6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Parkinson disease 14 (#612953); Infantile neuroaxonal dystrophy 1 (#256600); Neurodegeneration with brain iron accumulation 2B (#610217)
Hereditary ataxia with onset in adulthood v0.2 PIK3R5 Eleanor Williams gene: PIK3R5 was added
gene: PIK3R5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3
Hereditary ataxia with onset in adulthood v0.2 PEX16 Eleanor Williams gene: PEX16 was added
gene: PEX16 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Zellweger syndrome (614876)
Hereditary ataxia with onset in adulthood v0.2 PDYN Eleanor Williams gene: PDYN was added
gene: PDYN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23
Hereditary ataxia with onset in adulthood v0.2 PCLO Eleanor Williams gene: PCLO was added
gene: PCLO was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCLO were set to 25832664
Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Hereditary ataxia with onset in adulthood v0.2 PAX6 Eleanor Williams gene: PAX6 was added
gene: PAX6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation
Hereditary ataxia with onset in adulthood v0.2 PAX2 Eleanor Williams gene: PAX2 was added
gene: PAX2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: PAX2 was set to Unknown
Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2)
Hereditary ataxia with onset in adulthood v0.2 OPHN1 Eleanor Williams gene: OPHN1 was added
gene: OPHN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary ataxia with onset in adulthood v0.2 OPA3 Eleanor Williams gene: OPA3 was added
gene: OPA3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome
Hereditary ataxia with onset in adulthood v0.2 NPC2 Eleanor Williams gene: NPC2 was added
gene: NPC2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625)
Hereditary ataxia with onset in adulthood v0.2 NPC1 Eleanor Williams gene: NPC1 was added
gene: NPC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220)
Hereditary ataxia with onset in adulthood v0.2 NOP56 Eleanor Williams gene: NOP56 was added
gene: NOP56 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: NOP56 was set to Other - please specifiy in evaluation comments
Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153
Mode of pathogenicity for gene: NOP56 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 NKX6-2 Eleanor Williams gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Hereditary ataxia with onset in adulthood v0.2 NKX2-1 Eleanor Williams gene: NKX2-1 was added
gene: NKX2-1 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Hereditary ataxia with onset in adulthood v0.2 NHLRC1 Eleanor Williams gene: NHLRC1 was added
gene: NHLRC1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC1 were set to 15781812; 12958597
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Hereditary ataxia with onset in adulthood v0.2 NAGLU Eleanor Williams gene: NAGLU was added
gene: NAGLU was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 25818867
Phenotypes for gene: NAGLU were set to Sensory neuropathy turning into a mild sensory ataxia (AD); Sanfilippo syndrome B (AR) (OMIM #252920)
Mode of pathogenicity for gene: NAGLU was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 MVK Eleanor Williams gene: MVK was added
gene: MVK was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 24896178; 26503795
Phenotypes for gene: MVK were set to Mevalonic aciduria 610377
Hereditary ataxia with onset in adulthood v0.2 MTTP Eleanor Williams gene: MTTP was added
gene: MTTP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100
Hereditary ataxia with onset in adulthood v0.2 MTPAP Eleanor Williams gene: MTPAP was added
gene: MTPAP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to Ataxia, spastic, 4,
Hereditary ataxia with onset in adulthood v0.2 MT-ATP6 Eleanor Williams gene: MT-ATP6 was added
gene: MT-ATP6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa
Hereditary ataxia with onset in adulthood v0.2 MRE11 Eleanor Williams gene: MRE11 was added
gene: MRE11 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder
Hereditary ataxia with onset in adulthood v0.2 MMACHC Eleanor Williams gene: MMACHC was added
gene: MMACHC was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 26283149
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR)
Hereditary ataxia with onset in adulthood v0.2 MARS2 Eleanor Williams gene: MARS2 was added
gene: MARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to 22448145
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive
Hereditary ataxia with onset in adulthood v0.2 KIF1C Eleanor Williams gene: KIF1C was added
gene: KIF1C was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive
Hereditary ataxia with onset in adulthood v0.2 KCNQ3 Eleanor Williams gene: KCNQ3 was added
gene: KCNQ3 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Hereditary ataxia with onset in adulthood v0.2 KCNQ2 Eleanor Williams gene: KCNQ2 was added
gene: KCNQ2 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200
Hereditary ataxia with onset in adulthood v0.2 KCNK18 Eleanor Williams gene: KCNK18 was added
gene: KCNK18 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Brain channelopathy v1.46
Mode of inheritance for gene: KCNK18 was set to Unknown
Publications for gene: KCNK18 were set to 20871611; 22355750
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Hereditary ataxia with onset in adulthood v0.2 KCNJ10 Eleanor Williams gene: KCNJ10 was added
gene: KCNJ10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
Hereditary ataxia with onset in adulthood v0.2 KCND3 Eleanor Williams gene: KCND3 was added
gene: KCND3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Spinocerebellarataxia19, 607346
Hereditary ataxia with onset in adulthood v0.2 KCNC3 Eleanor Williams gene: KCNC3 was added
gene: KCNC3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13
Hereditary ataxia with onset in adulthood v0.2 KCNA1 Eleanor Williams gene: KCNA1 was added
gene: KCNA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome; myokymia with periodic ataxia
Hereditary ataxia with onset in adulthood v0.2 ITPR1 Eleanor Williams gene: ITPR1 was added
gene: ITPR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 15; Spinocerebellar ataxia 29
Mode of pathogenicity for gene: ITPR1 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 HTT Eleanor Williams gene: HTT was added
gene: HTT was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HTT were set to Huntington disease 143100
Mode of pathogenicity for gene: HTT was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 HEXB Eleanor Williams gene: HEXB was added
gene: HEXB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 HEXA Eleanor Williams gene: HEXA was added
gene: HEXA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 GRM1 Eleanor Williams gene: GRM1 was added
gene: GRM1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13
Hereditary ataxia with onset in adulthood v0.2 GRID2 Eleanor Williams gene: GRID2 was added
gene: GRID2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to 25841024
Phenotypes for gene: GRID2 were set to Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.
Hereditary ataxia with onset in adulthood v0.2 GPAA1 Eleanor Williams gene: GPAA1 was added
gene: GPAA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPAA1 were set to 29100095; 24896178
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Hereditary ataxia with onset in adulthood v0.2 GOSR2 Eleanor Williams gene: GOSR2 was added
gene: GOSR2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOSR2 were set to 24285620; 20301317; 21549339
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018
Hereditary ataxia with onset in adulthood v0.2 GLRB Eleanor Williams gene: GLRB was added
gene: GLRB was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Hereditary ataxia with onset in adulthood v0.2 GLRA1 Eleanor Williams gene: GLRA1 was added
gene: GLRA1 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Hereditary ataxia with onset in adulthood v0.2 GJC2 Eleanor Williams gene: GJC2 was added
gene: GJC2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia
Hereditary ataxia with onset in adulthood v0.2 GFAP Eleanor Williams gene: GFAP was added
gene: GFAP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to Alexander disease; Autosomal Dominant Ataxia
Hereditary ataxia with onset in adulthood v0.2 GBA2 Eleanor Williams gene: GBA2 was added
gene: GBA2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 FXN Eleanor Williams gene: FXN was added
gene: FXN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreichataxia, 229300; Friedreich ataxia with retained reflexes,229300
Hereditary ataxia with onset in adulthood v0.2 FOLR1 Eleanor Williams gene: FOLR1 was added
gene: FOLR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 FMR1 Eleanor Williams gene: FMR1 was added
gene: FMR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FMR1 were set to FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype; FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
Hereditary ataxia with onset in adulthood v0.2 FLVCR1 Eleanor Williams gene: FLVCR1 was added
gene: FLVCR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa,
Hereditary ataxia with onset in adulthood v0.2 FGF14 Eleanor Williams gene: FGF14 was added
gene: FGF14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27
Hereditary ataxia with onset in adulthood v0.2 EXOSC3 Eleanor Williams gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 EPM2A Eleanor Williams gene: EPM2A was added
gene: EPM2A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPM2A were set to 27604308; 14722920; 10932264
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780
Hereditary ataxia with onset in adulthood v0.2 ELOVL5 Eleanor Williams gene: ELOVL5 was added
gene: ELOVL5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 36 615957
Mode of pathogenicity for gene: ELOVL5 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 ELOVL4 Eleanor Williams gene: ELOVL4 was added
gene: ELOVL4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ELOVL4 were set to 24566826; 26010696
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190
Hereditary ataxia with onset in adulthood v0.2 EIF2B5 Eleanor Williams gene: EIF2B5 was added
gene: EIF2B5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Hereditary ataxia with onset in adulthood v0.2 EIF2B4 Eleanor Williams gene: EIF2B4 was added
gene: EIF2B4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Hereditary ataxia with onset in adulthood v0.2 EIF2B3 Eleanor Williams gene: EIF2B3 was added
gene: EIF2B3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Hereditary ataxia with onset in adulthood v0.2 EIF2B2 Eleanor Williams gene: EIF2B2 was added
gene: EIF2B2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Hereditary ataxia with onset in adulthood v0.2 EIF2B1 Eleanor Williams gene: EIF2B1 was added
gene: EIF2B1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Hereditary ataxia with onset in adulthood v0.2 DYNC1H1 Eleanor Williams gene: DYNC1H1 was added
gene: DYNC1H1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability
Hereditary ataxia with onset in adulthood v0.2 DNMT1 Eleanor Williams gene: DNMT1 was added
gene: DNMT1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Hereditary ataxia with onset in adulthood v0.2 DNAJC5 Eleanor Williams gene: DNAJC5 was added
gene: DNAJC5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC5 were set to 27604308; 21820099
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Hereditary ataxia with onset in adulthood v0.2 DNAJC19 Eleanor Williams gene: DNAJC19 was added
gene: DNAJC19 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 27604308; 16055927; 27426421; 22797137; 27928778
Phenotypes for gene: DNAJC19 were set to dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria, type V 610198
Hereditary ataxia with onset in adulthood v0.2 DMXL2 Eleanor Williams gene: DMXL2 was added
gene: DMXL2 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148
Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098
Phenotypes for gene: DMXL2 were set to ORPHA90636; OMIM:612186; Sensorineural Hearing Loss
Hereditary ataxia with onset in adulthood v0.2 DDHD2 Eleanor Williams gene: DDHD2 was added
gene: DDHD2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.
Hereditary ataxia with onset in adulthood v0.2 DARS2 Eleanor Williams gene: DARS2 was added
gene: DARS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 DAB1 Eleanor Williams gene: DAB1 was added
gene: DAB1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAB1 were set to 28686858
Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 615945
Mode of pathogenicity for gene: DAB1 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 CYP2U1 Eleanor Williams gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Hereditary ataxia with onset in adulthood v0.2 CYP27A1 Eleanor Williams gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 CWF19L1 Eleanor Williams gene: CWF19L1 was added
gene: CWF19L1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 CSTB Eleanor Williams gene: CSTB was added
gene: CSTB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Hereditary ataxia with onset in adulthood v0.2 CP Eleanor Williams gene: CP was added
gene: CP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Cerebellar ataxia,
Hereditary ataxia with onset in adulthood v0.2 COX20 Eleanor Williams gene: COX20 was added
gene: COX20 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v0.2 COQ8A Eleanor Williams gene: COQ8A was added
gene: COQ8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
Hereditary ataxia with onset in adulthood v0.2 COG5 Eleanor Williams gene: COG5 was added
gene: COG5 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148
Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 28960046; 19690088
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type Iii 613612
Hereditary ataxia with onset in adulthood v0.2 CLP1 Eleanor Williams gene: CLP1 was added
gene: CLP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia 10 (#615803)
Hereditary ataxia with onset in adulthood v0.2 CLN6 Eleanor Williams gene: CLN6 was added
gene: CLN6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300)
Hereditary ataxia with onset in adulthood v0.2 CLCN2 Eleanor Williams gene: CLCN2 was added
gene: CLCN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLCN2 were set to 23707145; 19191339
Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Hereditary ataxia with onset in adulthood v0.2 CHMP1A Eleanor Williams gene: CHMP1A was added
gene: CHMP1A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia 8 (#614961)
Hereditary ataxia with onset in adulthood v0.2 CCDC88C Eleanor Williams gene: CCDC88C was added
gene: CCDC88C was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC88C were set to 25062847
Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia
Mode of pathogenicity for gene: CCDC88C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 CASK Eleanor Williams gene: CASK was added
gene: CASK was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary ataxia with onset in adulthood v0.2 CAMTA1 Eleanor Williams gene: CAMTA1 was added
gene: CAMTA1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMTA1 were set to Cerebellarataxia,nonprogressive,withmentalretardation,614756 3
Hereditary ataxia with onset in adulthood v0.2 CACNB4 Eleanor Williams gene: CACNB4 was added
gene: CACNB4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNB4 were set to 10762541; PMC1378014
Phenotypes for gene: CACNB4 were set to Episodic ataxia, type 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; Episodic Ataxia
Hereditary ataxia with onset in adulthood v0.2 CACNA1G Eleanor Williams gene: CACNA1G was added
gene: CACNA1G was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene: CACNA1G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 CACNA1A Eleanor Williams gene: CACNA1A was added
gene: CACNA1A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 17575281; 21734179
Phenotypes for gene: CACNA1A were set to Spinocerebellar ataxia 6; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Episodic ataxia, type 2; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
Hereditary ataxia with onset in adulthood v0.2 CA8 Eleanor Williams gene: CA8 was added
gene: CA8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Hereditary ataxia with onset in adulthood v0.2 BEAN1 Eleanor Williams gene: BEAN1 was added
gene: BEAN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BEAN1 were set to 19878914
Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31 117210
Hereditary ataxia with onset in adulthood v0.2 ATXN8 Eleanor Williams gene: ATXN8 was added
gene: ATXN8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN8 were set to 10192387
Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 608768
Mode of pathogenicity for gene: ATXN8 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 ATXN7 Eleanor Williams gene: ATXN7 was added
gene: ATXN7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATXN7 was set to Unknown
Phenotypes for gene: ATXN7 were set to Spinocerebellarataxia 7,164500
Mode of pathogenicity for gene: ATXN7 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 ATXN3 Eleanor Williams gene: ATXN3 was added
gene: ATXN3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATXN3 was set to Unknown
Mode of pathogenicity for gene: ATXN3 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 ATXN2 Eleanor Williams gene: ATXN2 was added
gene: ATXN2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATXN2 was set to Unknown
Phenotypes for gene: ATXN2 were set to {Amyotrophiclateralsclerosis,susceptibilityto,13},183090; Spinocerebellarataxia2, 183090
Mode of pathogenicity for gene: ATXN2 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 ATXN10 Eleanor Williams gene: ATXN10 was added
gene: ATXN10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATXN10 was set to Unknown
Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10, 603516
Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 ATXN1 Eleanor Williams gene: ATXN1 was added
gene: ATXN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATXN1 was set to Unknown
Phenotypes for gene: ATXN1 were set to Spinocerebellarataxia1,164400
Mode of pathogenicity for gene: ATXN1 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 ATP8A2 Eleanor Williams gene: ATP8A2 was added
gene: ATP8A2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8A2 were set to 22892528
Hereditary ataxia with onset in adulthood v0.2 ATP7B Eleanor Williams gene: ATP7B was added
gene: ATP7B was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900
Hereditary ataxia with onset in adulthood v0.2 ATP2B3 Eleanor Williams gene: ATP2B3 was added
gene: ATP2B3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ATP2B3 was set to Unknown
Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1
Hereditary ataxia with onset in adulthood v0.2 ATP1A3 Eleanor Williams gene: ATP1A3 was added
gene: ATP1A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 22842232; 22850527
Phenotypes for gene: ATP1A3 were set to Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Hereditary ataxia with onset in adulthood v0.2 ATP1A2 Eleanor Williams gene: ATP1A2 was added
gene: ATP1A2 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581
Hereditary ataxia with onset in adulthood v0.2 ATN1 Eleanor Williams gene: ATN1 was added
gene: ATN1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 ATM Eleanor Williams gene: ATM was added
gene: ATM was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-Telangiectasia
Hereditary ataxia with onset in adulthood v0.2 ATCAY Eleanor Williams gene: ATCAY was added
gene: ATCAY was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type
Hereditary ataxia with onset in adulthood v0.2 ARSA Eleanor Williams gene: ARSA was added
gene: ARSA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (#250100)
Hereditary ataxia with onset in adulthood v0.2 APTX Eleanor Williams gene: APTX was added
gene: APTX was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Hereditary ataxia with onset in adulthood v0.2 AP1S2 Eleanor Williams gene: AP1S2 was added
gene: AP1S2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary ataxia with onset in adulthood v0.2 ANO10 Eleanor Williams gene: ANO10 was added
gene: ANO10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10
Hereditary ataxia with onset in adulthood v0.2 AMPD2 Eleanor Williams gene: AMPD2 was added
gene: AMPD2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 24482476
Phenotypes for gene: AMPD2 were set to Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809)
Hereditary ataxia with onset in adulthood v0.2 ALAS2 Eleanor Williams gene: ALAS2 was added
gene: ALAS2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary ataxia with onset in adulthood v0.2 AFG3L2 Eleanor Williams gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia 28
Mode of pathogenicity for gene: AFG3L2 was set to Other - please provide details in the comments
Hereditary ataxia with onset in adulthood v0.2 ADCY5 Eleanor Williams gene: ADCY5 was added
gene: ADCY5 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to Familial dyskinesia 606703
Hereditary ataxia with onset in adulthood v0.2 ABHD12 Eleanor Williams gene: ABHD12 was added
gene: ABHD12 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
Hereditary ataxia with onset in adulthood v0.2 ABCB7 Eleanor Williams gene: ABCB7 was added
gene: ABCB7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia
Hereditary ataxia with onset in adulthood v0.2 AARS Eleanor Williams gene: AARS was added
gene: AARS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia with onset in adulthood v0.2 AAAS Eleanor Williams gene: AAAS was added
gene: AAAS was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.584 ELN Konstantinos Varvagiannis reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: 20301427, 14556246, 11701637; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.584 ELN Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.584 ELN Konstantinos Varvagiannis reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 20301427, 14556246, 11701637; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.584 TRPS1 Konstantinos Varvagiannis reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28426188, 25792522, 28256045, 11112658, 17689056, 22127049, 14560312, 17854380; Phenotypes: Trichorhinophalangeal syndrome, type I (MIM 190350), Trichorhinophalangeal syndrome, type III (MIM 190351); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability v2.584 GUCY2C Konstantinos Varvagiannis reviewed gene: GUCY2C: Rating: RED; Mode of pathogenicity: None; Publications: 22436048; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.584 RASA1 Konstantinos Varvagiannis reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: 29891884, 21348050, 21626678; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.1 AIMP2 Konstantinos Varvagiannis gene: AIMP2 was added
gene: AIMP2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 (MIM 618006)
Penetrance for gene: AIMP2 were set to Complete
Review for gene: AIMP2 was set to AMBER
Added comment: Biallelic pathogenic variants in AIMP2 cause Leukodystrophy, hypomyelinating, 17 (MIM 618006).

3 individuals from 2 unrelated consanguineous families, of Indian origin have been reported (all in PMID: 29215095).

The phenotype consisted of feeding difficulties, lack of development with intellectual disability and seizures (3/3) as well as brain MRI abnormalities (cerebral and cerebellar atrophy, hypo-intensities of the basal ganglia on T2w sequences). Severe microcephaly was observed in 2 patients for whom this information was available (birth measurements not specified).

All patients described to date were homozygous for a nonsense variant [NM_006303.3:c.105C>A or p.(Tyr35Ter)] which appears to be a founder mutation in this population.

Quantitative reverse transcription PCR demonstrated reduced mRNA levels in peripheral lymphocytes, but this decrease was not significant compared to controls (the authors presume low level of NMD).

Previous mouse models provide some - but not substantial - support.

The authors note marked similarity with the phenotype associated with AIMP1 (Leukodystrophy, hypomyelinating, 3 - MIM 260600), another auxiliary protein of the macromolecular multienzyme multi-tRNA synthetase complex. AIMP1 is listed in the current panel as green.

AIMP2 is not associated with any phenotype in G2P.

As a result, this gene can be considered for inclusion in this panel probably as amber.
Sources: Literature
Intellectual disability v2.584 AIMP2 Konstantinos Varvagiannis gene: AIMP2 was added
gene: AIMP2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 (MIM 618006)
Penetrance for gene: AIMP2 were set to Complete
Review for gene: AIMP2 was set to AMBER
gene: AIMP2 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in AIMP2 cause Leukodystrophy, hypomyelinating, 17 (MIM 618006).

3 individuals from 2 unrelated consanguineous families, of Indian origin have been reported (all in PMID: 29215095).

The phenotype consisted of feeding difficulties, lack of development with intellectual disability and seizures as well as brain MRI abnormalities (cerebral and cerebellar atrophy, hypo-intensities of the basal ganglia on T2w sequences). Severe microcephaly was observed in 2 patients for whom this information was available (birth measurements not specified).

All patients described to date were homozygous for a nonsense variant [NM_006303.3:c.105C>A or p.(Tyr35Ter)] which appears to be a founder mutation in this population.

Quantitative reverse transcription PCR demonstrated reduced mRNA levels in peripheral lymphocytes, but this decrease was not significant compared to controls (the authors presume low level of NMD).

Previous mouse models provide some - but not substantial - support.

The authors note marked similarity with the phenotype associated with AIMP1 (Leukodystrophy, hypomyelinating, 3 - MIM 260600), another auxiliary protein of the macromolecular multienzyme multi-tRNA synthetase complex. AIMP1 is listed in the current panel as green.

AIMP2 is not associated with any phenotype in G2P.

This gene is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

As a result, AIMP2 can be considered for inclusion in this panel probably as amber.
Sources: Literature, Radboud University Medical Center, Nijmegen
Early onset or syndromic epilepsy v1.1 VPS11 Konstantinos Varvagiannis gene: VPS11 was added
gene: VPS11 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12 (MIM 616683)
Penetrance for gene: VPS11 were set to Complete
Review for gene: VPS11 was set to GREEN
Added comment: Biallelic mutations in VPS11 cause Leukodystrophy, hypomyelinating, 12 (MIM 616683).

PMIDs: 27120463, 26307567, 27473128 all report on this disorder.

The phenotype consists of global DD, ID, (variable) acquired microcephaly with hypomyelination upon brain MRI. Seizures appear to be a feature in several individuals.

Almost all individuals appear to be of Ashkenazi Jewish descent, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly). PMIDs: 27120463 and 26307567 report on 13 individuals from 7 Ashkenazi families.

A second variant (p.Leu387_Gly395del) was however found in the homozygous state in 2 sibs born to consanguineous parents. Seizures were also noted in these individuals.

Pathogenicity is supported by extensive functional studies in all relevant articles.

VPS11 is not associated with any phenotype in G2P.

As a result, this gene can be considered for inclusion in this panel probably as green (or amber).

[Please consider inclusion in the lysosomal disorders panel as well as in the undiagnosed metabolic disorders panel].
Sources: Literature
Intellectual disability v2.584 VPS11 Konstantinos Varvagiannis gene: VPS11 was added
gene: VPS11 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12 (MIM 616683)
Penetrance for gene: VPS11 were set to Complete
Review for gene: VPS11 was set to GREEN
gene: VPS11 was marked as current diagnostic
Added comment: Biallelic mutations in VPS11 cause Leukodystrophy, hypomyelinating, 12 (MIM 616683).

PMIDs: 27120463, 26307567, 27473128 all report on this disorder.

The phenotype consists of global DD, ID, (variable) acquired microcephaly with hypomyelination upon brain MRI. Seizures appear to be a feature in several individuals.

Almost all individuals appear to be of Ashkenazi Jewish descent, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly). PMIDs: 27120463 and 26307567 report on 13 individuals from 7 Ashkenazi families.

A second variant (p.Leu387_Gly395del) was however found in the homozygous state in 2 sibs born to consanguineous parents.

Pathogenicity is supported by extensive functional studies in all relevant articles.

VPS11 is not associated with any phenotype in G2P.

The gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in this panel as green.

[Please consider inclusion in the lysosomal disorders panel as well as in the undiagnosed metabolic disorders panel].
Sources: Literature, Radboud University Medical Center, Nijmegen
Pituitary hormone deficiency v0.62 SLC15A4 Ivone Leong Publications for gene: SLC15A4 were set to
Pituitary hormone deficiency v0.61 GNRHR Ivone Leong Classified gene: GNRHR as Green List (high evidence)
Pituitary hormone deficiency v0.61 GNRHR Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GNRHR is confirmed to be associated with Hypogonadotropic hypogonadism in OMIM but no phenotypes have been listed in Gene2Phenotype. It is also a green gene in the Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with Hypogonadotropic hypogonadism with variants in the GNRHR gene listed in OMIM.
Pituitary hormone deficiency v0.61 GNRHR Ivone Leong Gene: gnrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.60 GHSR Ivone Leong Classified gene: GHSR as Green List (high evidence)
Pituitary hormone deficiency v0.60 GHSR Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GHSR is confirmed to be associated with isolated partial growth hormone deficiency in OMIM but no phenotypes are listed in Gene2Phenotype. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the GHSR gene.
Pituitary hormone deficiency v0.60 GHSR Ivone Leong Gene: ghsr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.59 GHSR Ivone Leong Publications for gene: GHSR were set to
Pituitary hormone deficiency v0.58 GHRH Ivone Leong commented on gene: GHRH
Pituitary hormone deficiency v0.58 GHRH Ivone Leong Publications for gene: GHRH were set to
Intellectual disability v2.584 PITRM1 Konstantinos Varvagiannis gene: PITRM1 was added
gene: PITRM1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861
Phenotypes for gene: PITRM1 were set to Intellectual disability; Ataxia
Penetrance for gene: PITRM1 were set to Complete
Review for gene: PITRM1 was set to GREEN
gene: PITRM1 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in PITRM1 seem to be associated with a phenotype of DD/ID and spinocerebellar ataxia.

6 individuals from 3 unrelated families have been reported.

PMID: 26697887 reports on 2 individuals from a consanguineous Norwegian family homozygous for a missense variant (NM_014889.2:c.548G> or p.Arg183Gln).

PMID: 29764912 reports on 2 consanguineous Palestinian families each with 2 affected boys. All affected individuals for both families were homozygous for a further missense variant (p.Thr931Met).

The boys from one Palestinian family appeared to be more severely affected - compared to the sibs from the other family with the same variant - due to a concurrent X-chromosome rearrangement.

Pathogenicity is supported by extensive functional studies performed in both articles as well as an additional one (PMID: 29383861) on Arg183Gln.

PITRM1 is included in gene panels for ID offered by (few) diagnostic laboratories.

The gene is not associated with any phenotype in OMIM nor in G2P.

As a result, PITRM1 can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Pituitary hormone deficiency v0.57 ZIC2 Ivone Leong Classified gene: ZIC2 as Red List (low evidence)
Pituitary hormone deficiency v0.57 ZIC2 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. ZIC2 is confirmed to be associated with holoprosencephaly in OMIM and Gene2Phenotype and is a green gene in the holoprosencephaly panel (Version 1.6). However, there is only one case of a patient with holoprosencephaly with a variant in ZIC2 who has pituitary hormone deficiency.
Pituitary hormone deficiency v0.57 ZIC2 Ivone Leong Gene: zic2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.56 ZIC2 Ivone Leong Publications for gene: ZIC2 were set to
Pituitary hormone deficiency v0.55 SIX3 Ivone Leong Classified gene: SIX3 as Red List (low evidence)
Pituitary hormone deficiency v0.55 SIX3 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. SIX3 is confirmed to be associated with Holoprosencephaly in OMIM and Gene2Phenotype and is a green gene on the Holoprosencephaly gene panel (Version 1.6). However, there is no evidence that patients with Holoprosencephaly with variants in the SIX3 gene has pituitary hormone deficiency.
Pituitary hormone deficiency v0.55 SIX3 Ivone Leong Gene: six3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.54 PSTPIP1 Ivone Leong Classified gene: PSTPIP1 as Red List (low evidence)
Pituitary hormone deficiency v0.54 PSTPIP1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red as no evidence of variants in PSTPAP1 associated with Holoprosencephaly.
Pituitary hormone deficiency v0.54 PSTPIP1 Ivone Leong Gene: pstpip1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.53 PTCH1 Ivone Leong Classified gene: PTCH1 as Red List (low evidence)
Pituitary hormone deficiency v0.53 PTCH1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. PTCH1 is confirmed to be associated with Holoprosencephaly 7 in OMIM and Gene2Phenotype, and it is a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one reported case of a patient with Holoprosencephaly with a variant in the PTCH1 gene who has panhypopituitarism.
Pituitary hormone deficiency v0.53 PTCH1 Ivone Leong Gene: ptch1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.52 PTCH1 Ivone Leong Publications for gene: PTCH1 were set to
Intellectual disability v2.584 LINGO1 Konstantinos Varvagiannis gene: LINGO1 was added
gene: LINGO1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO1 were set to 28837161
Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64 (MIM 618103)
Penetrance for gene: LINGO1 were set to Complete
Review for gene: LINGO1 was set to AMBER
gene: LINGO1 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in LINGO1 cause Mental retardation, autosomal recessive 64 (MIM 618103).

Ansar et al. (PMID: 28837161) report on 5 individuals from 2 consanguineous Pakistani families.

Affected individuals from both families presented with similar phenotype consisting of global developmental delay (5/5), intellectual disability (5/5), microcephaly (4/5) as well as abnormal behavior (5/5).

Subjects from both families were homozygous for missense variants (private to each family) affecting proximal residues (290 and 288) of the protein (NM_032808.6:c.869G>A or p.Arg290His and c.863A>G or p.Tyr288Cys).

All variants were absent in an ethnically matched control cohort (201 individuals) as well as the relevant subpopulation in gnomAD.

Functional studies were not performed.

LINGO1 is a transmembrane protein predominantly expressed in the CNS. Previous studies suggest that this protein has an important role in myelination, neuronal survival and CNS repair.

LINGO1 is rather intolerant to both missense and LoF variants (Z-score of 4 and pLI of 0.95). According to the authors these variants may be hypomorphic, which might in turn suggest that monoallelic heterozygous LoF mutations could cause ID (although this remains an assumption).

This gene is not associated with any phenotype in G2P but is included in panels for ID offered by diagnostic laboratories (incl. Radboudumc).

As a result, LINGO1 can be considered for inclusion in this panel probably as amber (2 families, no functional studies).
Sources: Literature, Radboud University Medical Center, Nijmegen
Pituitary hormone deficiency v0.51 NODAL Ivone Leong Classified gene: NODAL as Red List (low evidence)
Pituitary hormone deficiency v0.51 NODAL Ivone Leong Added comment: Comment on list classification: Demonted from amber to red. NODAL is a red gene on the Holoprosencephaly panel (Version 1.6) and there is insufficient evidence to suggest it is involved in pituitary hormone deficiency.
Pituitary hormone deficiency v0.51 NODAL Ivone Leong Gene: nodal has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.50 FOXA2 Ivone Leong Mode of inheritance for gene: FOXA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v0.49 FOXA2 Ivone Leong Classified gene: FOXA2 as Green List (high evidence)
Pituitary hormone deficiency v0.49 FOXA2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. FOXA2 is not associated with any phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with congenical hypopituitarism who have de novo variants in FOX2A gene.
Pituitary hormone deficiency v0.49 FOXA2 Ivone Leong Gene: foxa2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.48 FOXA2 Ivone Leong Publications for gene: FOXA2 were set to
Pituitary hormone deficiency v0.47 FOXA2 Ivone Leong Phenotypes for gene: FOXA2 were changed from No OMIM number; hypopituitarism to No OMIM number; Congenital hypopituitarism; Congenital hyperinsulinism
Pituitary hormone deficiency v0.46 FOXA2 Ivone Leong Phenotypes for gene: FOXA2 were changed from No OMIM number to No OMIM number; hypopituitarism
Intellectual disability v2.584 SLC1A2 Konstantinos Varvagiannis reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654, 28777935; Phenotypes: Epileptic encephalopathy, early infantile, 41 (MIM 617105); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.584 ABCC6 Konstantinos Varvagiannis reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301292, 25392903, 22209248; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.584 ABCB11 Konstantinos Varvagiannis reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: 30236549, 20232290; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.45 IGSF1 Ivone Leong Classified gene: IGSF1 as Green List (high evidence)
Pituitary hormone deficiency v0.45 IGSF1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. IGSF1 is confirmed to be associated with Hypothyroidism, central, and testicular enlargement in OMIM and Gene2Phenotypes. It is a green gene in the Congenital hypothyroidism panel (Version 1.4). There are >3 unrelated cases of patients with variants in IGSF1 who have pituitary hormone deficiency.
Pituitary hormone deficiency v0.45 IGSF1 Ivone Leong Gene: igsf1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.44 IGSF1 Ivone Leong Publications for gene: IGSF1 were set to
Early onset or syndromic epilepsy v1.1 PAK1 Konstantinos Varvagiannis gene: PAK1 was added
gene: PAK1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAK1 were set to 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Penetrance for gene: PAK1 were set to unknown
Mode of pathogenicity for gene: PAK1 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: PAK1 was set to AMBER
Added comment: Heterozygous pathogenic PAK1 variants cause Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158).

Harms et al. (PMID: 30290153) report on two unrelated individuals with de novo missense mutations in PAK1. Common features included developmental delay with associated intellectual disability, seizures, ataxic gait. Postnatal-onset microcephaly as well as some facial features were also common to both subjects.

Each patient was found to harbour a (private) de novo missense variant [NM_001128620.1:c.392A>G or p.(Tyr131Cys) - c.1286A>G or p.(Tyr429Cys)]. Expression studies demonstrated similar levels for the mutant and wt transcript and Western blot confirmed similar amounts of protein in patient fibroblasts when compared to controls. Functional studies suggest that gain-of-function is the underlying mechanism for both variants.

PAK1 is not associated with any phenotype in G2P.

As a result, this gene can be considered for inclusion in this panel as amber.
Sources: Literature
Intellectual disability v2.584 PAK1 Konstantinos Varvagiannis gene: PAK1 was added
gene: PAK1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAK1 were set to 30290153
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Penetrance for gene: PAK1 were set to unknown
Mode of pathogenicity for gene: PAK1 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: PAK1 was set to AMBER
Added comment: Heterozygous pathogenic PAK1 variants cause Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158).

Harms et al. (PMID: 30290153) report on two unrelated individuals with de novo missense mutations in PAK1. Common features included developmental delay with associated intellectual disability, seizures, ataxic gait. Postnatal-onset microcephaly as well as some facial features were also common to both subjects.

Each patient was found to harbour a (private) de novo missense variant [NM_001128620.1:c.392A>G or p.(Tyr131Cys) - c.1286A>G or p.(Tyr429Cys)]. Expression studies demonstrated similar levels for the mutant and wt transcript and Western blot confirmed similar amounts of protein in patient fibroblasts when compared to controls. Functional studies suggest that gain-of-function is the underlying mechanism for both variants.

PAK1 is not associated with any phenotype in G2P.

As a result, this gene can be considered for inclusion in this panel as amber.
Sources: Literature
Early onset or syndromic epilepsy v1.1 FUK Konstantinos Varvagiannis gene: FUK was added
gene: FUK was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Feeding difficulties; Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Abnormality of vision
Penetrance for gene: FUK were set to Complete
Review for gene: FUK was set to AMBER
Added comment: Ng et al. (PMID: 30503518) report on 2 unrelated individuals with biallelic pathogenic variants in FUK. The common features consisted of feeding difficulties, hypotonia, global developmental delay with severe intellectual disability, seizures as well as visual impairment.

The first patient was compound heterozygous for 2 missense variants (Ser223Pro and Arg683Cys) while the second - born to consanguineous parents - was homozygous for Lys994Gln.

Significant reduction in the FUK protein amount was demonstrated upon Western blot for the first individual for whom fibroblast and lymphoblast cell lines were available.

Fucokinase (FUK) is an enzyme of the fucose salvage pathway, one of the mechanisms (the other and main contributor being the de novo pathway) for synthesis of GDP-fucose. GDP-fucose is a donor substrate for fucosylation, a form of glycosylation. Significant decrease of fucokinase activity was shown for this individual when compared to controls.

Cell lines from the second individual were not available for expression/functional studies.

Overall the authors suggest that loss-of-function variants cause a congenital disorder of glycosylation with ID and seizures.

There are no further cases published in the literature.

FUK is not associated with any phenotype in OMIM nor in G2P.

As a result this gene can be considered for inclusion in this panel as amber.

[You might consider inclusion of this gene also in the CDG gene panel].
Sources: Literature
Intellectual disability v2.584 FUK Konstantinos Varvagiannis gene: FUK was added
gene: FUK was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Feeding difficulties; Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: FUK were set to Complete
Review for gene: FUK was set to AMBER
Added comment: Ng et al. (PMID: 30503518) report on 2 unrelated individuals with biallelic pathogenic variants in FUK. The common features consisted of feeding difficulties, hypotonia, global developmental delay with severe intellectual disability, seizures as well as visual impairment.

The first patient was compound heterozygous for 2 missense variants (Ser223Pro and Arg683Cys) while the second - born to consanguineous parents - was homozygous for Lys994Gln.

Significant reduction in the FUK protein amount was demonstrated upon Western blot for the first individual for whom fibroblast and lymphoblast cell lines were available.

Fucokinase (FUK) is an enzyme of the fucose salvage pathway, one of the mechanisms (the other and main contributor being the de novo pathway) for synthesis of GDP-fucose. GDP-fucose is a donor substrate for fucosylation, a form of glycosylation. Significant decrease of fucokinase activity was shown for this individual when compared to controls.

Cell lines from the second individual were not available for expression/functional studies.

Overall the authors suggest loss-of-function variants cause a congenital disorder of glycosylation with ID and seizures.

There are no further cases published in the literature.

FUK is not associated with any phenotype in OMIM nor in G2P.

As a result this gene can be considered for inclusion in this panel as amber.

[You might consider inclusion of this gene also in the CDG gene panel].
Sources: Literature
Other rare neuromuscular disorders v0.18 RBCK1 Ellen McDonagh Publications for gene: RBCK1 were set to 23104095; 23889995; 23798481; 25041762
Other rare neuromuscular disorders v0.18 RBCK1 Ellen McDonagh Publications for gene: RBCK1 were set to 23798481
Other rare neuromuscular disorders v0.17 RBCK1 Ellen McDonagh Classified gene: RBCK1 as Green List (high evidence)
Other rare neuromuscular disorders v0.17 RBCK1 Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Rhabdomyolysis and metabolic muscle disorders v1.22 panel.
Other rare neuromuscular disorders v0.17 RBCK1 Ellen McDonagh Gene: rbck1 has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.16 ISPD Ellen McDonagh Classified gene: ISPD as Green List (high evidence)
Other rare neuromuscular disorders v0.16 ISPD Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Congenital muscular dystrophy v1.19 panel.
Other rare neuromuscular disorders v0.16 ISPD Ellen McDonagh Gene: ispd has been classified as Green List (High Evidence).
Intellectual disability v2.584 SLC1A2 Konstantinos Varvagiannis Deleted their review
Other rare neuromuscular disorders v0.15 DYSF Ellen McDonagh Publications for gene: DYSF were set to 25821721
Other rare neuromuscular disorders v0.14 DYSF Ellen McDonagh Classified gene: DYSF as Green List (high evidence)
Other rare neuromuscular disorders v0.14 DYSF Ellen McDonagh Added comment: Comment on list classification: This is Green on the Rhabdomyolysis and metabolic muscle disorders v1.22, Distal myopathies v1.10, Limb girdle muscular dystrophy v1.12 panels.
Other rare neuromuscular disorders v0.14 DYSF Ellen McDonagh Gene: dysf has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.13 DES Ellen McDonagh Publications for gene: DES were set to 23687351
Other rare neuromuscular disorders v0.12 DAG1 Ellen McDonagh Publications for gene: DAG1 were set to 21388311; 25503980
Other rare neuromuscular disorders v0.11 CRYAB Ellen McDonagh Publications for gene: CRYAB were set to 21337604
Intellectual disability v2.584 SLC1A2 Konstantinos Varvagiannis gene: SLC1A2 was added
gene: SLC1A2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC1A2 were set to 27476654; 28777935
Phenotypes for gene: SLC1A2 were set to Epileptic encephalopathy, early infantile, 41 (MIM 617105)
Penetrance for gene: SLC1A2 were set to Complete
Review for gene: SLC1A2 was set to AMBER
gene: SLC1A2 was marked as current diagnostic
Added comment: Pathogenic variants in SLC1A2 cause Epileptic encephalopathy, early infantile, 41 (EIEE41 - MIM 617105).

At least 4 unrelated patients each with (private) de novo variants have been reported. ID is a universal feature.

This gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).

SLC1A2 is a probable DD gene in G2P associated with Epileptic encephalopathy.

As a result this gene could possibly be included in this panel as amber or green if the phenotype is thought to be relevant (5 more EIEEs in this panel - all rated green).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.584 PTRHD1 Konstantinos Varvagiannis gene: PTRHD1 was added
gene: PTRHD1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRHD1 were set to 30398675; 27134041; 29143421; 27753167
Phenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability
Penetrance for gene: PTRHD1 were set to Complete
Review for gene: PTRHD1 was set to AMBER
gene: PTRHD1 was marked as current diagnostic
Added comment: 7 individuals with biallelic PTRHD1 mutations from 3 pedigrees have been reported. The phenotype in all consisted of early-onset Parkinsonism with intellectual disability (overview in Table 1 - PMID: 30398675).

Jaberi et al. (PMID: 27134041) first reported on 2 sibs born to consanguineous Iranian parents. Both presented with parkinsonism with ID. After homozygosity mapping and exome sequencing, one variant in PTRHD1 (NM_001013663.1:c.155G>A or p.Cys52Tyr) as well as another variant in ADORA1 were the only candidates for the patients phenotype. At the time, the authors favored ADORA1 as the causative gene for their patients' phenotype but could not exclude pathogenicity of PTRHD1.

Khodadadi et al. (PMID: 27753167) published on 2 additional sibs from Iran with a similar phenotype. These individuals - born to consanguineous parents - were homozygous for a further PTRHD1 missense variant (p.His53Tyr) which is proximal to the variant reported by Jaberi et al.

This led the authors of the first publication to acknowledge that PTRHD1 was probably responsible for their patients' phenotype (PMID: 29143421). [A recent study of exome sequencing data of a Parkinson disease 1214-patient cohort failed to find any case explained by biallelic ADORA1 mutations - PMID: 27987235].

The variants reported in these 2 publications are classified as VUS in OMIM (last update : 02/23/2017).

Kuipers et al. (PMID: 30398675) report on 3 additional individuals of African origin with identical phenotype. These individuals, whose parents originated from an isolated african community, were homozygous for a frameshift PTRHD1 deletion (c.169_196del or p.Ala57Argfs*26). This variant is rare in gnomAD (MAF of 0.018% overall or 0.15% in the African subpopulation). Alternative causes of PD / parkinsonism were previously excluded.

The phenotype of all reported individuals is summarized in Table 1 of this article.

PTRHD1 is not assocated with any phenotype in OMIM nor in G2P.

This gene is included in the gene panel for ID, offered by Radboudumc.

Therefore, this gene can be considered for inclusion in this panel as amber or green.

[Please consider inclusion of this gene in the Parkinson Disease and Complex Parkinsonism gene panel].
Sources: Literature, Radboud University Medical Center, Nijmegen
Pituitary hormone deficiency v0.43 CDON Ivone Leong Classified gene: CDON as Amber List (moderate evidence)
Pituitary hormone deficiency v0.43 CDON Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. CDON is confirmed to be associated with Holoprosencephaly 11 in OMIM and Gene2Phenotype. There are 2 unrelated cases of patients with holoprosencephaly with LOF CDON variants with pituitary hormone deficiency.
Pituitary hormone deficiency v0.43 CDON Ivone Leong Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.42 CDON Ivone Leong Publications for gene: CDON were set to
Pituitary hormone deficiency v0.41 PNPLA6 Ivone Leong Classified gene: PNPLA6 as Green List (high evidence)
Pituitary hormone deficiency v0.41 PNPLA6 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PNPLA6 is confirmed to be associated with the listed phenotypes in OMIM but not Gene2Phenotype. It is a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are 3 unrelated cases of patients diagnosed with Boucher-Neuhauser or Gordon Holmes syndromes who have LOF variants in PNPLA6.
Pituitary hormone deficiency v0.41 PNPLA6 Ivone Leong Gene: pnpla6 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.40 PNPLA6 Ivone Leong Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive (612020) to Boucher-Neuhauser syndrome (215470); Oliver-McFarlane syndrome (275400); Spastic paraplegia 39, autosomal recessive (612020)
Pituitary hormone deficiency v0.39 PNPLA6 Ivone Leong Publications for gene: PNPLA6 were set to
Pituitary hormone deficiency v0.38 GPR161 Ivone Leong commented on gene: GPR161
Pituitary hormone deficiency v0.38 GPR161 Ivone Leong Phenotypes for gene: GPR161 were changed from No OMIM number to No OMIM number; pituitary stalk interruption syndrome
Pituitary hormone deficiency v0.37 GPR161 Ivone Leong Publications for gene: GPR161 were set to
Pituitary hormone deficiency v0.36 ARNT2 Ivone Leong commented on gene: ARNT2
Pituitary hormone deficiency v0.36 ARNT2 Ivone Leong Publications for gene: ARNT2 were set to
Pituitary hormone deficiency v0.35 CHD7 Ivone Leong Classified gene: CHD7 as Green List (high evidence)
Pituitary hormone deficiency v0.35 CHD7 Ivone Leong Added comment: Comment on list classification: Promoted from red t gree. CHD7 is confirmed to be associated with Hypogonadotropic hypogonadism in OMIM and Gene2Phenotype. It is a green gene on the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated case of patients with Hypogonadotropic hypogonadism with variants in the CHD7 gene in OMIM.
Pituitary hormone deficiency v0.35 CHD7 Ivone Leong Gene: chd7 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.34 TGIF1 Ivone Leong Classified gene: TGIF1 as Red List (low evidence)
Pituitary hormone deficiency v0.34 TGIF1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. TGIF1 is confirmed to be associated with Holoprosencephaly 4 in OMIM and Gene2Phenotype. It is also a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one reported case of a patient with holoprosencephaly who has a missense variant in TGIF1.
Pituitary hormone deficiency v0.34 TGIF1 Ivone Leong Gene: tgif1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.33 TGIF1 Ivone Leong Publications for gene: TGIF1 were set to
Pituitary hormone deficiency v0.32 TCF7L1 Ivone Leong Classified gene: TCF7L1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.32 TCF7L1 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TCF7L1 is not associated with any phenotypes in OMIM or Gene2Phenotype. There is one study reporting a patient with septo-optic dysplasia with a missense variant in TCF7L1 who also has growth hormone deficiency. In vitro studies support that this variant reduced TCF7L1 protein function.
Pituitary hormone deficiency v0.32 TCF7L1 Ivone Leong Gene: tcf7l1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.31 TCF7L1 Ivone Leong Phenotypes for gene: TCF7L1 were changed from No OMIM number to No OMIM number; pituitary hormone deficiency
Pituitary hormone deficiency v0.30 TCF7L1 Ivone Leong Mode of inheritance for gene: TCF7L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v0.29 TCF7L1 Ivone Leong Publications for gene: TCF7L1 were set to
Hereditary spastic paraplegia v1.114 KIF1C Sarah Leigh Publications for gene: KIF1C were set to Dor et al. (2014)
Hereditary spastic paraplegia v1.113 NT5C2 Sarah Leigh Publications for gene: NT5C2 were set to 28884889; 28327087; 29123918
Hereditary spastic paraplegia v1.112 NT5C2 Sarah Leigh Publications for gene: NT5C2 were set to Novarino et al. (2014)
Hereditary spastic paraplegia v1.111 NT5C2 Sarah Leigh Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45,613162 to Spasticparaplegia45, autosomal recessive 613162
Brugada syndrome and cardiac sodium channel disease v1.14 KCNH2 Sarah Leigh Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome to Brugada/Brugada like syndrome; Long QT syndrome 2 613688; Short QT syndrome 1 609620
Brugada syndrome and cardiac sodium channel disease v1.13 KCNH2 Sarah Leigh Publications for gene: KCNH2 were set to
Brugada syndrome and cardiac sodium channel disease v1.12 KCNH2 Sarah Leigh Mode of inheritance for gene: KCNH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v0.28 SHH Ivone Leong Classified gene: SHH as Amber List (moderate evidence)
Pituitary hormone deficiency v0.28 SHH Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. SHH is confirmed to be associated with Holoprosencephaly 3 in OMIM but not in Gene2Phenotype. It is also a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one report where two unrelated Dutch patients with combned pituitary hormone deficiency had variants in SHH. One missense variant is predicted to be pathogenic and another variant in the 3' UTR region was shown to decrease SHH expression in in vitro tests.
Pituitary hormone deficiency v0.28 SHH Ivone Leong Gene: shh has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.27 SHH Ivone Leong Publications for gene: SHH were set to
Pituitary hormone deficiency v0.26 PROKR2 Ivone Leong Classified gene: PROKR2 as Green List (high evidence)
Pituitary hormone deficiency v0.26 PROKR2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PROKR2 is confirmed to be associated with Hypogonadotropic hypogonadism 3 with or without anosmia in OMIM but not in Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities (Version 1.25) panel and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with growth/pituitary hormone deficiency who have variants in this gene.
Pituitary hormone deficiency v0.26 PROKR2 Ivone Leong Gene: prokr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.25 PROKR2 Ivone Leong Publications for gene: PROKR2 were set to
Intellectual disability v2.583 CCDC47 Konstantinos Varvagiannis gene: CCDC47 was added
gene: CCDC47 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Woolly hair; Abnormality of the liver; Global developmental delay; Intellectual disability
Penetrance for gene: CCDC47 were set to Complete
Review for gene: CCDC47 was set to GREEN
Added comment: Morimoto el al. (PMID: 30401460) report on 4 individuals from 4 unrelated families with biallelic LoF variants in CCDC47. The phenotype consisted of abnormal (woolly) hair, liver dysfunction, common facial features as well as DD/ID.

The patients were found to harbor the variants in compound heterozygous or more commonly in homozygous state (due to consanguinity and/or common ancestry). 4 loss-of-function variants are reported in total (using NM_020198.2 as a reference):
- c.811C>T or p.(Arg271*) [consanguineous family of Turkish origin]
- c.1145delT or p.(Leu382Argfs*2) [probably a founder mutation in Amish]
- c.1165delT or p.(Ser389Leufs*25)
- c.1189C>T or p.(Arg397*)

Decreased mRNA levels in fibroblasts/lymphoblastoid cells were shown as well as absence of the protein upon Western blot using antibodies recognizing the N and C terminus (thus suggesting NMD).

Localization of CCDC47 in the ER was demonstrated with perturbed Ca+2 homeostasis and signalling in the ER.

Ccdc47-knockout mice present features similar to the human phenotypes eg. growth, neurological as well as heart anomalies. In mice embryonic/neonatal lethality was noted in some cases which might be associated with recurrent miscarriages reported in 3 patient families.

CCDC47 is not associated with any phenotype in G2P or OMIM.

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Other rare neuromuscular disorders v0.10 CPT2 Ellen McDonagh Publications for gene: CPT2 were set to 16602102
Other rare neuromuscular disorders v0.9 CHCHD10 Ellen McDonagh Publications for gene: CHCHD10 were set to 25428574
Other rare neuromuscular disorders v0.8 CACNA1S Ellen McDonagh Publications for gene: CACNA1S were set to 28012042
Other rare neuromuscular disorders v0.7 ANO5 Ellen McDonagh Publications for gene: ANO5 were set to 25929793
Other rare neuromuscular disorders v0.6 ACTA1 Ellen McDonagh Publications for gene: ACTA1 were set to 26436962; 25913210; 24642510; 25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele); 20179953
Other rare neuromuscular disorders v0.5 ACTA1 Ellen McDonagh Mode of inheritance for gene: ACTA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Other rare neuromuscular disorders v0.3 VPS33B Ellen McDonagh gene: VPS33B was added
gene: VPS33B was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: VPS33B was set to Unknown
Phenotypes for gene: VPS33B were set to vacuolar myopathy?
Other rare neuromuscular disorders v0.3 STIM2 Ellen McDonagh gene: STIM2 was added
gene: STIM2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: STIM2 was set to Unknown
Other rare neuromuscular disorders v0.3 PHKG1 Ellen McDonagh gene: PHKG1 was added
gene: PHKG1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PHKG1 was set to Unknown
Other rare neuromuscular disorders v0.3 MEG3 Ellen McDonagh gene: MEG3 was added
gene: MEG3 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: MEG3 was set to Unknown
Other rare neuromuscular disorders v0.3 FBP2 Ellen McDonagh gene: FBP2 was added
gene: FBP2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: FBP2 was set to Unknown
Other rare neuromuscular disorders v0.3 DMPK Ellen McDonagh Mode of pathogenicity for gene DMPK was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14. for gene: DMPK
Other rare neuromuscular disorders v0.3 DCTN1 Ellen McDonagh gene: DCTN1 was added
gene: DCTN1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: DCTN1 was set to Unknown
Other rare neuromuscular disorders v0.3 CPT1B Ellen McDonagh gene: CPT1B was added
gene: CPT1B was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: CPT1B was set to Unknown
Other rare neuromuscular disorders v0.3 COL4A2 Ellen McDonagh gene: COL4A2 was added
gene: COL4A2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: COL4A2 was set to Unknown
Publications for gene: COL4A2 were set to 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy
Other rare neuromuscular disorders v0.3 BSCL2 Ellen McDonagh gene: BSCL2 was added
gene: BSCL2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: BSCL2 was set to Unknown
Publications for gene: BSCL2 were set to 14981520
Other rare neuromuscular disorders v0.3 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, 309400; Occipital horn syndrome, 304150; Spinal muscular atrophy, distal, X-linked 3, 300489
Other rare neuromuscular disorders v0.3 AARS Ellen McDonagh gene: AARS was added
gene: AARS was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: AARS was set to Unknown
Other rare neuromuscular disorders v0.3 UBA1 Ellen McDonagh gene: UBA1 was added
gene: UBA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: UBA1 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: UBA1 were set to PMID: 23518311
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830; Infantile Spinal Muscular Atrophy, X-Linked
Other rare neuromuscular disorders v0.3 LAMP2 Ellen McDonagh Added phenotypes vacuolar myopathy? for gene: LAMP2
Publications for gene LAMP2 were changed from to 12084876; 21415759
Other rare neuromuscular disorders v0.3 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: LAMP2 were set to Danon disease
Other rare neuromuscular disorders v0.3 FHL1 Ellen McDonagh Added phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 for gene: FHL1
Publications for gene FHL1 were changed from to 7709723; 22094483
Other rare neuromuscular disorders v0.3 FHL1 Ellen McDonagh gene: FHL1 was added
gene: FHL1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy
Other rare neuromuscular disorders v0.3 EMD Ellen McDonagh Added phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 for gene: EMD
Other rare neuromuscular disorders v0.3 EMD Ellen McDonagh gene: EMD was added
gene: EMD was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked
Other rare neuromuscular disorders v0.3 DMD Ellen McDonagh Added phenotypes Duchenne muscular dystrophy 310200; Becker muscular dystrophy for gene: DMD
Other rare neuromuscular disorders v0.3 DMD Ellen McDonagh Added phenotypes Becker muscular dystrophy for gene: DMD
Other rare neuromuscular disorders v0.3 DMD Ellen McDonagh gene: DMD was added
gene: DMD was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376
Other rare neuromuscular disorders v0.3 VMA21 Ellen McDonagh gene: VMA21 was added
gene: VMA21 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: VMA21 were set to 23315026
Phenotypes for gene: VMA21 were set to vacuolar myopathy?
Other rare neuromuscular disorders v0.3 PHKA1 Ellen McDonagh gene: PHKA1 was added
gene: PHKA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHKA1 were set to 27604308; 25929793; 15637709; 12825073
Phenotypes for gene: PHKA1 were set to Muscle glycogenosis
Other rare neuromuscular disorders v0.3 PGK1 Ellen McDonagh gene: PGK1 was added
gene: PGK1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGK1 were set to 22348148; 1547346
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency
Other rare neuromuscular disorders v0.3 MTM1 Ellen McDonagh gene: MTM1 was added
gene: MTM1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MTM1 were set to 8640223
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400; X-linked myotubular myopathy
Other rare neuromuscular disorders v0.3 AR Ellen McDonagh gene: AR was added
gene: AR was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633
Mode of pathogenicity for gene: AR was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 OBSCN Ellen McDonagh gene: OBSCN was added
gene: OBSCN was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: OBSCN was set to Unknown
Publications for gene: OBSCN were set to 18477606
Other rare neuromuscular disorders v0.3 CYP2C8 Ellen McDonagh gene: CYP2C8 was added
gene: CYP2C8 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: CYP2C8 was set to Unknown
Publications for gene: CYP2C8 were set to 15365880; 20739906
Phenotypes for gene: CYP2C8 were set to Rhabdomyolysis, cerivastatin-induced
Other rare neuromuscular disorders v0.3 SNRPN Ellen McDonagh gene: SNRPN was added
gene: SNRPN was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SNRPN was set to Other - please specifiy in evaluation comments
Publications for gene: SNRPN were set to 10802660; 8723064
Phenotypes for gene: SNRPN were set to Prader-Willi syndrome
Other rare neuromuscular disorders v0.3 SMCHD1 Ellen McDonagh Added phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Other rare neuromuscular disorders v0.3 SMCHD1 Ellen McDonagh gene: SMCHD1 was added
gene: SMCHD1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SMCHD1 was set to Other - please specifiy in evaluation comments
Phenotypes for gene: SMCHD1 were set to Fascioscapulohumeral muscular dystrophy 2, digenic
Other rare neuromuscular disorders v0.3 VCP Ellen McDonagh Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 for gene: VCP
Other rare neuromuscular disorders v0.3 VCP Ellen McDonagh Mode of inheritance for gene VCP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 for gene: VCP
Publications for gene VCP were changed from to 21684747
Other rare neuromuscular disorders v0.3 UBQLN1 Ellen McDonagh gene: UBQLN1 was added
gene: UBQLN1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: UBQLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBQLN1 were set to PMID: 22766032
Phenotypes for gene: UBQLN1 were set to Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease
Other rare neuromuscular disorders v0.3 SYT2 Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 7, presynaptic, 616040 for gene: SYT2
Publications for gene SYT2 were changed from to 27472506 (Review); 25192047; 26519543
Other rare neuromuscular disorders v0.3 SYT2 Ellen McDonagh gene: SYT2 was added
gene: SYT2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Other rare neuromuscular disorders v0.3 SYNE2 Ellen McDonagh Added phenotypes Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 for gene: SYNE2
Other rare neuromuscular disorders v0.3 SYNE2 Ellen McDonagh gene: SYNE2 was added
gene: SYNE2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SYNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYNE2 were set to 17761684
Phenotypes for gene: SYNE2 were set to Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Other rare neuromuscular disorders v0.3 SQSTM1 Ellen McDonagh gene: SQSTM1 was added
gene: SQSTM1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SQSTM1 were set to 26208961
Phenotypes for gene: SQSTM1 were set to Dystal Myopathy with rimmed vacuoles, 617158
Other rare neuromuscular disorders v0.3 SNAP25 Ellen McDonagh gene: SNAP25 was added
gene: SNAP25 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNAP25 were set to 25381298; 27472506 (Review)
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330
Other rare neuromuscular disorders v0.3 SETX Ellen McDonagh gene: SETX was added
gene: SETX was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: SETX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETX were set to 15106121
Phenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433
Other rare neuromuscular disorders v0.3 REEP1 Ellen McDonagh gene: REEP1 was added
gene: REEP1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REEP1 were set to 18321925; 22703882
Phenotypes for gene: REEP1 were set to ?Neuronopathy, distal hereditary motor, type VB 614751
Other rare neuromuscular disorders v0.3 PRKAG2 Ellen McDonagh gene: PRKAG2 was added
gene: PRKAG2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 27604308
Other rare neuromuscular disorders v0.3 POLG2 Ellen McDonagh gene: POLG2 was added
gene: POLG2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLG2 were set to 25929793
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Other rare neuromuscular disorders v0.3 MYOT Ellen McDonagh Added phenotypes Myopathy, spheroid body 182920; Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, myofibrillar, 3 609200 for gene: MYOT
Other rare neuromuscular disorders v0.3 MYOT Ellen McDonagh Added phenotypes Myopathy, myofibrillar 3, 609200 for gene: MYOT
Publications for gene MYOT were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 15111675
Other rare neuromuscular disorders v0.3 MYOT Ellen McDonagh gene: MYOT was added
gene: MYOT was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYOT were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: MYOT were set to Limb-Girdle Muscular Dystrophy, Dominant; Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 1A, 159000
Other rare neuromuscular disorders v0.3 MYH7 Ellen McDonagh Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Laing distal myopathy, 160500 for gene: MYH7
Publications for gene MYH7 were changed from 15322983 to 20301606
Other rare neuromuscular disorders v0.3 MATR3 Ellen McDonagh Mode of inheritance for gene MATR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Distal Myopathy for gene: MATR3
Other rare neuromuscular disorders v0.3 LDB3 Ellen McDonagh Added phenotypes Myopathy, myofibrillar, 4, 609452; Myofibrillar Myopathy, Dominant for gene: LDB3
Other rare neuromuscular disorders v0.3 LDB3 Ellen McDonagh gene: LDB3 was added
gene: LDB3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB3 were set to 15668942
Phenotypes for gene: LDB3 were set to Myopathy, myofibrillar 4, 609452
Other rare neuromuscular disorders v0.3 KLHL9 Ellen McDonagh gene: KLHL9 was added
gene: KLHL9 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL9 were set to 20554658
Phenotypes for gene: KLHL9 were set to distal myopathy (no OMIM number)
Other rare neuromuscular disorders v0.3 HSPB8 Ellen McDonagh Added phenotypes Neuropathy, distal hereditary motor, type IIA 158590 for gene: HSPB8
Publications for gene HSPB8 were changed from 26718575 to 15122253
Other rare neuromuscular disorders v0.3 HSPB8 Ellen McDonagh gene: HSPB8 was added
gene: HSPB8 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB8 were set to 26718575
Phenotypes for gene: HSPB8 were set to Neuropathy, distal hereditary motor type IIA, 158590; distal myopathy
Other rare neuromuscular disorders v0.3 HSPB3 Ellen McDonagh gene: HSPB3 was added
gene: HSPB3 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB3 were set to 20142617
Phenotypes for gene: HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC 613376
Other rare neuromuscular disorders v0.3 HSPB1 Ellen McDonagh Publications for gene HSPB1 were changed from 27830184 to 15122254
Other rare neuromuscular disorders v0.3 HSPB1 Ellen McDonagh gene: HSPB1 was added
gene: HSPB1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPB1 were set to 27830184
Phenotypes for gene: HSPB1 were set to Neuropathy, distal hereditary motor type IIB, 608634
Other rare neuromuscular disorders v0.3 FLNC Ellen McDonagh Added phenotypes Myopathy, myofibrillar, 5, 609524 for gene: FLNC
Other rare neuromuscular disorders v0.3 FLNC Ellen McDonagh Added phenotypes Distal myopathy 4, 614065; myofibrillar myopathy 5, 609524 for gene: FLNC
Publications for gene FLNC were changed from 17412757; 15929027; 19050726; 22806379 to 15824355; 15929027; 21620354
Other rare neuromuscular disorders v0.3 FLNC Ellen McDonagh gene: FLNC was added
gene: FLNC was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to 17412757; 15929027; 19050726; 22806379
Phenotypes for gene: FLNC were set to Myopathy, myofibrillar, 5
Other rare neuromuscular disorders v0.3 FBXO38 Ellen McDonagh gene: FBXO38 was added
gene: FBXO38 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXO38 were set to 24207122
Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID 615575
Other rare neuromuscular disorders v0.3 DYNC1H1 Ellen McDonagh gene: DYNC1H1 was added
gene: DYNC1H1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1H1 were set to 22459677
Phenotypes for gene: DYNC1H1 were set to Spinal muscular atrophy, lower extremity-predominant, AD, 158600
Other rare neuromuscular disorders v0.3 DUX4 Ellen McDonagh Added phenotypes Facioscapulohumeral Muscular Dystrophy 1A for gene: DUX4
Publications for gene DUX4 were changed from to 27922500; 27841748; 27672539; 28040729; 27816329
Other rare neuromuscular disorders v0.3 DUX4 Ellen McDonagh Added phenotypes Facioscapulohumeral muscular dystrophy, 158900 for gene: DUX4
Other rare neuromuscular disorders v0.3 DUX4 Ellen McDonagh gene: DUX4 was added
gene: DUX4 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: DUX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DUX4 were set to FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
Mode of pathogenicity for gene: DUX4 was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 DNM2 Ellen McDonagh Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myopathy, centronuclear, for gene: DNM2
Other rare neuromuscular disorders v0.3 DNAJB6 Ellen McDonagh Mode of inheritance for gene DNAJB6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes limb-girdle muscular dystrophy type 1E, 603511 for gene: DNAJB6
Other rare neuromuscular disorders v0.3 DMPK Ellen McDonagh Mode of inheritance for gene DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene DMPK was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other - please provide details in the comments
Added phenotypes MYOTONIC DYSTROPHY 1 (DM1) for gene: DMPK
Other rare neuromuscular disorders v0.3 COL4A1 Ellen McDonagh gene: COL4A1 was added
gene: COL4A1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 22037604; 28056338; 21625620
Phenotypes for gene: COL4A1 were set to walker warburg syndrome, muscle eye brain disease
Other rare neuromuscular disorders v0.3 CNBP Ellen McDonagh gene: CNBP was added
gene: CNBP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668
Mode of pathogenicity for gene: CNBP was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 CHCHD10 Ellen McDonagh Mode of inheritance for gene CHCHD10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Spinal muscular atrophy, Jokela type 615048 for gene: CHCHD10
Publications for gene CHCHD10 were changed from 25193783 to 25428574
Other rare neuromuscular disorders v0.3 BICD2 Ellen McDonagh gene: BICD2 was added
gene: BICD2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Other rare neuromuscular disorders v0.3 BAG3 Ellen McDonagh Mode of inheritance for gene BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes myofibrillar myopathy 6, 612954 for gene: BAG3
Publications for gene BAG3 were changed from 19085932 to 19085932; 21361913
Other rare neuromuscular disorders v0.3 VCP Ellen McDonagh gene: VCP was added
gene: VCP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954; Charcot-Marie-Tooth disease, type 2Y 616687; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Other rare neuromuscular disorders v0.3 VAPB Ellen McDonagh gene: VAPB was added
gene: VAPB was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAPB were set to 15372378
Phenotypes for gene: VAPB were set to Amyotrophic lateral sclerosis 8 608627; Spinal muscular atrophy, late-onset, Finkel type 182980
Other rare neuromuscular disorders v0.3 TRPV4 Ellen McDonagh gene: TRPV4 was added
gene: TRPV4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPV4 were set to 20037588, 20037586, 20037587
Phenotypes for gene: TRPV4 were set to Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, 113500
Other rare neuromuscular disorders v0.3 TPM2 Ellen McDonagh gene: TPM2 was added
gene: TPM2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TPM2 were set to Nemaline myopathy 4, autosomal dominant 609285; CAP myopathy 2 609285
Other rare neuromuscular disorders v0.3 TNNT3 Ellen McDonagh gene: TNNT3 was added
gene: TNNT3 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNT3 were set to Arthyrogryposis, distal, type 2B 601680
Other rare neuromuscular disorders v0.3 TNNI2 Ellen McDonagh gene: TNNI2 was added
gene: TNNI2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNI2 were set to 16924011
Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680
Other rare neuromuscular disorders v0.3 TMEM43 Ellen McDonagh gene: TMEM43 was added
gene: TMEM43 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM43 were set to Emery-Dreifuss muscular dystrophy 7, AD 614302
Other rare neuromuscular disorders v0.3 STIM1 Ellen McDonagh gene: STIM1 was added
gene: STIM1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STIM1 were set to 23332920
Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 160565
Other rare neuromuscular disorders v0.3 SLC25A4 Ellen McDonagh gene: SLC25A4 was added
gene: SLC25A4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A4 were set to 27693233; PMID:25732997
Phenotypes for gene: SLC25A4 were set to mitochondrial myopathy
Other rare neuromuscular disorders v0.3 ORAI1 Ellen McDonagh gene: ORAI1 was added
gene: ORAI1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ORAI1 were set to 28058752; 25227914
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2 615883
Other rare neuromuscular disorders v0.3 MYH8 Ellen McDonagh gene: MYH8 was added
gene: MYH8 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH8 were set to 17041932
Phenotypes for gene: MYH8 were set to Trismus-pseudocamptodactyly syndrome 158300
Other rare neuromuscular disorders v0.3 MYH7 Ellen McDonagh gene: MYH7 was added
gene: MYH7 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH7 were set to 15322983
Phenotypes for gene: MYH7 were set to Laing Distal Myopathy 160500
Other rare neuromuscular disorders v0.3 MYH3 Ellen McDonagh gene: MYH3 was added
gene: MYH3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH3 were set to 26578207; 18695058
Phenotypes for gene: MYH3 were set to Arthrogryposis, distal, type 2A 193700; Arthrogryposis, distal, type 8 178110; Arthrogryposis, distal, type 2B 601680
Other rare neuromuscular disorders v0.3 MYH2 Ellen McDonagh gene: MYH2 was added
gene: MYH2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia 605637
Other rare neuromuscular disorders v0.3 MYH14 Ellen McDonagh gene: MYH14 was added
gene: MYH14 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH14 were set to 27875632; 21480433
Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A 600652
Other rare neuromuscular disorders v0.3 MYF6 Ellen McDonagh gene: MYF6 was added
gene: MYF6 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: MYF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYF6 were set to 11053684
Phenotypes for gene: MYF6 were set to Myopathy, centronuclear, 3, 614408; Centronuclear Myopathy, Dominant
Other rare neuromuscular disorders v0.3 MTMR14 Ellen McDonagh gene: MTMR14 was added
gene: MTMR14 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MTMR14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MTMR14 were set to 19465920
Phenotypes for gene: MTMR14 were set to centronuclear myopathy
Other rare neuromuscular disorders v0.3 MATR3 Ellen McDonagh gene: MATR3 was added
gene: MATR3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MATR3 were set to 24686783
Phenotypes for gene: MATR3 were set to Amyotrophic lateral sclerosis 21 606070
Other rare neuromuscular disorders v0.3 KBTBD13 Ellen McDonagh gene: KBTBD13 was added
gene: KBTBD13 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KBTBD13 were set to 21109227
Phenotypes for gene: KBTBD13 were set to Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273
Other rare neuromuscular disorders v0.3 HRAS Ellen McDonagh gene: HRAS was added
gene: HRAS was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HRAS were set to 17412879
Phenotypes for gene: HRAS were set to Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040
Other rare neuromuscular disorders v0.3 HNRNPDL Ellen McDonagh gene: HNRNPDL was added
gene: HNRNPDL was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPDL were set to 24647604
Phenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, type 1G 609115
Other rare neuromuscular disorders v0.3 HNRNPA1 Ellen McDonagh gene: HNRNPA1 was added
gene: HNRNPA1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPA1 were set to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Other rare neuromuscular disorders v0.3 GARS Ellen McDonagh gene: GARS was added
gene: GARS was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GARS were set to Distal Spinal Muscular Atrophy
Other rare neuromuscular disorders v0.3 FAM111B Ellen McDonagh gene: FAM111B was added
gene: FAM111B was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAM111B were set to 24268661
Phenotypes for gene: FAM111B were set to Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)
Other rare neuromuscular disorders v0.3 DNM2 Ellen McDonagh gene: DNM2 was added
gene: DNM2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 22396310
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150
Other rare neuromuscular disorders v0.3 DNAJB6 Ellen McDonagh Added phenotypes Myofibrillar Myopathy, Dominant for gene: DNAJB6
Other rare neuromuscular disorders v0.3 DNAJB6 Ellen McDonagh gene: DNAJB6 was added
gene: DNAJB6 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAJB6 were set to PubMed: 22366786
Phenotypes for gene: DNAJB6 were set to Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1E, 603511
Other rare neuromuscular disorders v0.3 DMPK Ellen McDonagh gene: DMPK was added
gene: DMPK was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to Myotonic dystrophy 1 160900
Mode of pathogenicity for gene: DMPK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 COL9A3 Ellen McDonagh gene: COL9A3 was added
gene: COL9A3 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL9A3 were set to 10655510; 10678658
Phenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
Other rare neuromuscular disorders v0.3 CHCHD10 Ellen McDonagh gene: CHCHD10 was added
gene: CHCHD10 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHCHD10 were set to 25193783
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type 615048; ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
Other rare neuromuscular disorders v0.3 CCDC78 Ellen McDonagh gene: CCDC78 was added
gene: CCDC78 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC78 were set to 22818856
Phenotypes for gene: CCDC78 were set to Myopathy, centronuclear, 4, 614807
Other rare neuromuscular disorders v0.3 BAG3 Ellen McDonagh gene: BAG3 was added
gene: BAG3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAG3 were set to 19085932
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6, 612954
Other rare neuromuscular disorders v0.3 NEFL Ellen McDonagh gene: NEFL was added
gene: NEFL was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal
Publications for gene: NEFL were set to 25264603
Phenotypes for gene: NEFL were set to Nemaline Myopathy
Other rare neuromuscular disorders v0.3 CASQ1 Ellen McDonagh gene: CASQ1 was added
gene: CASQ1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal
Publications for gene: CASQ1 were set to 25116801
Phenotypes for gene: CASQ1 were set to Vacuolar myopathy with CASQ1 aggregates (VMCQA)
Other rare neuromuscular disorders v0.3 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS 540000
Other rare neuromuscular disorders v0.3 TTN Ellen McDonagh Added phenotypes Muscular dystrophy, limb-girdle, type 2J for gene: TTN
Publications for gene TTN were changed from 12145747 to 12145747; 26392295
Other rare neuromuscular disorders v0.3 TTN Ellen McDonagh Added phenotypes Tibial muscular dystrophy, tardive, 600334 for gene: TTN
Publications for gene TTN were changed from 23975875; 28295036; 17444505 to 12145747
Other rare neuromuscular disorders v0.3 TTN Ellen McDonagh gene: TTN was added
gene: TTN was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TTN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TTN were set to 23975875; 28295036; 17444505
Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy 611705
Other rare neuromuscular disorders v0.3 TPM3 Ellen McDonagh gene: TPM3 was added
gene: TPM3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TPM3 were set to 24692096
Phenotypes for gene: TPM3 were set to Myopathy, congenital, with fiber-type disproportion 255310; CAP myopathy 1 609284; Nemaline myopathy 1, autosomal dominant or recessive 609284
Other rare neuromuscular disorders v0.3 SYNE1 Ellen McDonagh Added phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant for gene: SYNE1
Other rare neuromuscular disorders v0.3 SYNE1 Ellen McDonagh gene: SYNE1 was added
gene: SYNE1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SYNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYNE1 were set to 27782104; 19542096
Phenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Other rare neuromuscular disorders v0.3 SLC5A7 Ellen McDonagh Added phenotypes Neuronopathy, distal hereditary motor, type VIIA 158580 for gene: SLC5A7
Publications for gene SLC5A7 were changed from PMID: 23141292; PMID: 27569547; PMID: 26786006 to 23141292
Other rare neuromuscular disorders v0.3 SLC5A7 Ellen McDonagh gene: SLC5A7 was added
gene: SLC5A7 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC5A7 were set to PMID: 23141292; PMID: 27569547; PMID: 26786006
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143; Hereditory motor neuropathy; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 SLC2A9 Ellen McDonagh gene: SLC2A9 was added
gene: SLC2A9 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A9 were set to Hypouricemia, renal, 2
Other rare neuromuscular disorders v0.3 RYR1 Ellen McDonagh Added phenotypes Malignant hyperthermia susceptibility 1 145600; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Central core disease 117000 for gene: RYR1
Publications for gene RYR1 were changed from to 26799446
Other rare neuromuscular disorders v0.3 RYR1 Ellen McDonagh Added phenotypes Minicore myopathy with external ophthalmoplegia; Neuromuscular disease, congenital, with uniform type 1 fiber; congenital muscular dystrophies; Central core disease for gene: RYR1
Other rare neuromuscular disorders v0.3 RYR1 Ellen McDonagh gene: RYR1 was added
gene: RYR1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Central core disease, 117000; {Malignant hyperthermia susceptibility 1}, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
Other rare neuromuscular disorders v0.3 RRM2B Ellen McDonagh gene: RRM2B was added
gene: RRM2B was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 25929793
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Other rare neuromuscular disorders v0.3 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLG were set to 157640; Progressive external ophthalmoplegia, autosomal recessive 1 258450
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type)
Other rare neuromuscular disorders v0.3 PIEZO2 Ellen McDonagh gene: PIEZO2 was added
gene: PIEZO2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to Arthrogryposis
Other rare neuromuscular disorders v0.3 PABPN1 Ellen McDonagh gene: PABPN1 was added
gene: PABPN1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PABPN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy; Oculopharyngeal muscular dystrophy, 164300
Other rare neuromuscular disorders v0.3 MYBPC1 Ellen McDonagh gene: MYBPC1 was added
gene: MYBPC1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYBPC1 were set to 20045868
Phenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4 614915; Arthrogryposis, distal, type 1B 614335
Other rare neuromuscular disorders v0.3 LMNA Ellen McDonagh Added phenotypes Congenital fiber type disproportion myopathy for gene: LMNA
Publications for gene LMNA were changed from 18551513; 15622532; 15148145 to 24642510
Other rare neuromuscular disorders v0.3 LMNA Ellen McDonagh Added phenotypes Emery-Dreifuss muscular dystrophy 2, AD, 181350; Congenital Muscular Dystrophy, LMNA-related (Dominant) for gene: LMNA
Publications for gene LMNA were changed from to 18551513; 15622532; 15148145
Other rare neuromuscular disorders v0.3 LMNA Ellen McDonagh gene: LMNA was added
gene: LMNA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, AD, 181350; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 GNE Ellen McDonagh Added phenotypes Nonaka myopathy for gene: GNE
Other rare neuromuscular disorders v0.3 GNE Ellen McDonagh Mode of inheritance for gene GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Nonaka myopathy, 605820 for gene: GNE
Publications for gene GNE were changed from to 16372135
Other rare neuromuscular disorders v0.3 DES Ellen McDonagh Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 for gene: DES
Other rare neuromuscular disorders v0.3 DES Ellen McDonagh Added phenotypes Muscular dystrophy, limb-girdle, type 2R for gene: DES
Publications for gene DES were changed from 20718792 to 23687351
Other rare neuromuscular disorders v0.3 DES Ellen McDonagh gene: DES was added
gene: DES was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DES were set to 20718792
Phenotypes for gene: DES were set to Myopathy, myofibrillar 1, 601419
Other rare neuromuscular disorders v0.3 CRYAB Ellen McDonagh Added phenotypes Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869; Myopathy, myofibrillar, 2 608810 for gene: CRYAB
Publications for gene CRYAB were changed from to 21337604
Other rare neuromuscular disorders v0.3 CRYAB Ellen McDonagh gene: CRYAB was added
gene: CRYAB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were set to Myopathy, myofibrillar 2, 608810
Other rare neuromuscular disorders v0.3 COL6A3 Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A3
Other rare neuromuscular disorders v0.3 COL6A3 Ellen McDonagh Added phenotypes Bethlem myopathy 1 for gene: COL6A3
Other rare neuromuscular disorders v0.3 COL6A3 Ellen McDonagh gene: COL6A3 was added
gene: COL6A3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 15689448
Phenotypes for gene: COL6A3 were set to Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Other rare neuromuscular disorders v0.3 COL6A2 Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A2
Publications for gene COL6A2 were changed from to 15689448
Other rare neuromuscular disorders v0.3 COL6A2 Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A2
Other rare neuromuscular disorders v0.3 COL6A2 Ellen McDonagh gene: COL6A2 was added
gene: COL6A2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Bethlem myopathy 1
Other rare neuromuscular disorders v0.3 COL6A1 Ellen McDonagh Added phenotypes Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810 for gene: COL6A1
Publications for gene COL6A1 were changed from to 23738969; 15955946; 25535305
Other rare neuromuscular disorders v0.3 COL6A1 Ellen McDonagh Added phenotypes Bethlem myopathy 1 for gene: COL6A1
Other rare neuromuscular disorders v0.3 COL6A1 Ellen McDonagh gene: COL6A1 was added
gene: COL6A1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy, 254090; Bethlem myopathy, 158810
Other rare neuromuscular disorders v0.3 COL12A1 Ellen McDonagh Added phenotypes Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2 for gene: COL12A1
Publications for gene COL12A1 were changed from 24334604 to 24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy.; 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father; 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation
Other rare neuromuscular disorders v0.3 COL12A1 Ellen McDonagh gene: COL12A1 was added
gene: COL12A1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL12A1 were set to 24334604
Phenotypes for gene: COL12A1 were set to EDS/myopathy overlap syndrome
Other rare neuromuscular disorders v0.3 CHRNE Ellen McDonagh gene: CHRNE was added
gene: CHRNE was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNE were set to 12417530; 14719537; 24295813; 21175599; 25792100
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; fast channel myasthenic syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive
Other rare neuromuscular disorders v0.3 CHRND Ellen McDonagh gene: CHRND was added
gene: CHRND was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRND were set to 11435464; 11782989; 16916845
Phenotypes for gene: CHRND were set to ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322; fast channel myasthenic syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Acetylcholine receptor deficiency syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive
Mode of pathogenicity for gene: CHRND was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 CHRNB1 Ellen McDonagh gene: CHRNB1 was added
gene: CHRNB1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNB1 were set to 8651643; 8872460; 22104196; In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Phenotypes for gene: CHRNB1 were set to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; fast channel myasthenic syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Acetylcholine receptor deficiency syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive
Mode of pathogenicity for gene: CHRNB1 was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 CHRNA1 Ellen McDonagh gene: CHRNA1 was added
gene: CHRNA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNA1 were set to 7619526; PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.; 15034283
Phenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Slow channel myasthenic syndrome; Congenital Myasthenic Syndrome, Dominant/Recessive
Mode of pathogenicity for gene: CHRNA1 was set to Other - please provide details in the comments
Other rare neuromuscular disorders v0.3 CAV3 Ellen McDonagh Added phenotypes Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801 for gene: CAV3
Other rare neuromuscular disorders v0.3 CAV3 Ellen McDonagh Added phenotypes Muscular dystrophy, limb-girdle, type IC for gene: CAV3
Other rare neuromuscular disorders v0.3 CAV3 Ellen McDonagh gene: CAV3 was added
gene: CAV3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CAV3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CAV3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type, 614321; Limb-Girdle Muscular Dystrophy, Dominant; Cardiomyopathy, familial hypertrophic, 192600; Muscular dystrophy, limb-girdle, type IC, 607801; Rippling muscle disease, 606072; Limb-girdle muscular dystrophy; Creatine phosphokinase, elevated serum, 123320
Other rare neuromuscular disorders v0.3 CACNA1S Ellen McDonagh Added phenotypes congenital myopathy for gene: CACNA1S
Publications for gene CACNA1S were changed from 19825159; 28011884; 25735680 to 28012042
Other rare neuromuscular disorders v0.3 CACNA1S Ellen McDonagh gene: CACNA1S was added
gene: CACNA1S was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1S was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CACNA1S were set to 19825159; 28011884; 25735680
Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, 601887
Other rare neuromuscular disorders v0.3 ACTA1 Ellen McDonagh Added phenotypes Myopathy, congenital, with fiber-type disproportion 1 255310; CMD with rigid spine; Nemaline myopathy 3, autosomal dominant or recessive 161800 for gene: ACTA1
Publications for gene ACTA1 were changed from 22825594; 19562689 to 26436962; 25913210; 24642510; 25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele); 20179953
Other rare neuromuscular disorders v0.3 ACTA1 Ellen McDonagh Mode of inheritance for gene ACTA1 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
Added phenotypes Nemaline myopathy 3; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Myopathy, actin, congenital, with cores for gene: ACTA1
Publications for gene ACTA1 were changed from to 22825594; 19562689
Other rare neuromuscular disorders v0.3 TIA1 Ellen McDonagh Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
Other rare neuromuscular disorders v0.3 TIA1 Ellen McDonagh gene: TIA1 was added
gene: TIA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TIA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TIA1 were set to 23401021
Phenotypes for gene: TIA1 were set to Welander distal myopathy, 604454
Other rare neuromuscular disorders v0.3 ACTA1 Ellen McDonagh gene: ACTA1 was added
gene: ACTA1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ACTA1 were set to Nemaline myopathy 3, 161800
Other rare neuromuscular disorders v0.3 YARS2 Ellen McDonagh gene: YARS2 was added
gene: YARS2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS2 were set to 24344687
Phenotypes for gene: YARS2 were set to Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Other rare neuromuscular disorders v0.3 VRK1 Ellen McDonagh gene: VRK1 was added
gene: VRK1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 19646678, 27281532
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A 607596
Other rare neuromuscular disorders v0.3 VAMP1 Ellen McDonagh gene: VAMP1 was added
gene: VAMP1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAMP1 were set to 28253535
Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 TYMP Ellen McDonagh gene: TYMP was added
gene: TYMP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to 25929793
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Other rare neuromuscular disorders v0.3 TSFM Ellen McDonagh gene: TSFM was added
gene: TSFM was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 610505
Other rare neuromuscular disorders v0.3 TSEN54 Ellen McDonagh gene: TSEN54 was added
gene: TSEN54 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN54 were set to 18711368; 25929793
Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5
Other rare neuromuscular disorders v0.3 TRIP4 Ellen McDonagh gene: TRIP4 was added
gene: TRIP4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP4 were set to 26924529
Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1 616866
Other rare neuromuscular disorders v0.3 TRIM32 Ellen McDonagh gene: TRIM32 was added
gene: TRIM32 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM32 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 TRAPPC11 Ellen McDonagh Added phenotypes congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness for gene: TRAPPC11
Publications for gene TRAPPC11 were changed from 23830518; 27707803 to 26322222
Other rare neuromuscular disorders v0.3 TRAPPC11 Ellen McDonagh gene: TRAPPC11 was added
gene: TRAPPC11 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 23830518; 27707803
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356
Other rare neuromuscular disorders v0.3 TNNT1 Ellen McDonagh gene: TNNT1 was added
gene: TNNT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNNT1 were set to 25430424; 26296490
Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy, Recessive; nemaline myopathy
Other rare neuromuscular disorders v0.3 TMEM5 Ellen McDonagh gene: TMEM5 was added
gene: TMEM5 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Other rare neuromuscular disorders v0.3 TK2 Ellen McDonagh gene: TK2 was added
gene: TK2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TK2 were set to 25929793
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Other rare neuromuscular disorders v0.3 TCAP Ellen McDonagh Added phenotypes Congenital muscular dystrophies for gene: TCAP
Publications for gene TCAP were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 21530252; 23479141
Other rare neuromuscular disorders v0.3 TCAP Ellen McDonagh gene: TCAP was added
gene: TCAP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCAP were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 25929793
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Other rare neuromuscular disorders v0.3 STAC3 Ellen McDonagh gene: STAC3 was added
gene: STAC3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 23736855; 28003463
Phenotypes for gene: STAC3 were set to Native American myopathy, 255995 (3)
Other rare neuromuscular disorders v0.3 SPTBN4 Ellen McDonagh gene: SPTBN4 was added
gene: SPTBN4 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN4 were set to 28540413
Phenotypes for gene: SPTBN4 were set to ?Myopathy, congenital, with neuropathy and deafness, 617519
Other rare neuromuscular disorders v0.3 SPG11 Ellen McDonagh gene: SPG11 was added
gene: SPG11 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 20110243
Phenotypes for gene: SPG11 were set to Amyotrophic lateral sclerosis 5, juvenile 602099
Other rare neuromuscular disorders v0.3 SPEG Ellen McDonagh gene: SPEG was added
gene: SPEG was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to PMID 25087613
Phenotypes for gene: SPEG were set to Centronuclear myopathy 5 615959
Other rare neuromuscular disorders v0.3 SMN1 Ellen McDonagh gene: SMN1 was added
gene: SMN1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMN1 were set to 7813012
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300
Mode of pathogenicity for gene: SMN1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 SLC52A3 Ellen McDonagh gene: SLC52A3 was added
gene: SLC52A3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 20206331; 20920669
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530
Mode of pathogenicity for gene: SLC52A3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 SLC52A2 Ellen McDonagh gene: SLC52A2 was added
gene: SLC52A2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 22864630; 23243084
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707
Mode of pathogenicity for gene: SLC52A2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 SLC52A1 Ellen McDonagh gene: SLC52A1 was added
gene: SLC52A1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC52A1 was set to BIALLELIC, autosomal or pseudoautosomal
Other rare neuromuscular disorders v0.3 SLC25A42 Ellen McDonagh gene: SLC25A42 was added
gene: SLC25A42 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 26541337
Phenotypes for gene: SLC25A42 were set to muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction
Other rare neuromuscular disorders v0.3 SLC22A5 Ellen McDonagh gene: SLC22A5 was added
gene: SLC22A5 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 25929793
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary
Other rare neuromuscular disorders v0.3 SLC22A12 Ellen McDonagh gene: SLC22A12 was added
gene: SLC22A12 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A12 were set to Hypouricemia, renal
Other rare neuromuscular disorders v0.3 SLC18A3 Ellen McDonagh gene: SLC18A3 was added
gene: SLC18A3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to PMID: 27590285
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; ophthalmopleggia and apnea; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 SIL1 Ellen McDonagh gene: SIL1 was added
gene: SIL1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIL1 were set to 25929793
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome
Other rare neuromuscular disorders v0.3 SIGMAR1 Ellen McDonagh gene: SIGMAR1 was added
gene: SIGMAR1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIGMAR1 were set to 21842496
Phenotypes for gene: SIGMAR1 were set to ?Amyotrophic lateral sclerosis 16, juvenile 614373
Other rare neuromuscular disorders v0.3 SGCG Ellen McDonagh gene: SGCG was added
gene: SGCG was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCG were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 SGCD Ellen McDonagh gene: SGCD was added
gene: SGCD was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCD were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 SGCB Ellen McDonagh gene: SGCB was added
gene: SGCB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCB were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: SGCB were set to Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2E, 604286
Other rare neuromuscular disorders v0.3 SGCA Ellen McDonagh gene: SGCA was added
gene: SGCA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCA were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099; Limb-girdle muscular dystrophy
Other rare neuromuscular disorders v0.3 SELENON Ellen McDonagh Added phenotypes Muscular dystrophy, rigid spine, 1, 602771 for gene: SELENON
Other rare neuromuscular disorders v0.3 SELENON Ellen McDonagh gene: SELENON was added
gene: SELENON was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENON were set to 26780752; 16365872
Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310
Other rare neuromuscular disorders v0.3 SCN4A Ellen McDonagh Added phenotypes Congenital Myasthenic Syndrome, Recessive; congenital myasthenic syndromes; Myasthenic syndrome, congenital, 16, 614198 for gene: SCN4A
Other rare neuromuscular disorders v0.3 SCN4A Ellen McDonagh gene: SCN4A was added
gene: SCN4A was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN4A were set to 26700687
Phenotypes for gene: SCN4A were set to congenital myopathy
Other rare neuromuscular disorders v0.3 RBCK1 Ellen McDonagh Source Expert Review Red was added to RBCK1.
Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895 for gene: RBCK1
Publications for gene RBCK1 were changed from to 23798481
Rating Changed from Green List (high evidence) to Red List (low evidence)
Other rare neuromuscular disorders v0.3 RBCK1 Ellen McDonagh gene: RBCK1 was added
gene: RBCK1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency
Other rare neuromuscular disorders v0.3 RAPSN Ellen McDonagh gene: RAPSN was added
gene: RAPSN was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAPSN were set to 15145336; 16945936; 11791205; 14504330
Phenotypes for gene: RAPSN were set to acute respiratory crises; Congenital Myasthenic Syndrome, Recessive; late and early onset; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 PYGM Ellen McDonagh gene: PYGM was added
gene: PYGM was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGM were set to 25929793; 16786513; 8316268
Phenotypes for gene: PYGM were set to Glycogen storage disease V McArdle disease
Other rare neuromuscular disorders v0.3 PUS1 Ellen McDonagh gene: PUS1 was added
gene: PUS1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 26556812; 21686963; 25227147
Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462; Myopathy, Lactic Acidosis, and Sideroblastic Anemia
Other rare neuromuscular disorders v0.3 PREPL Ellen McDonagh gene: PREPL was added
gene: PREPL was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 27472506 (Review); 24610330
Phenotypes for gene: PREPL were set to congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency; ?Myasthenic syndrome, congenital, 22, 616224; myasthenic syndrome
Other rare neuromuscular disorders v0.3 POMT2 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 for gene: POMT2
Other rare neuromuscular disorders v0.3 POMT2 Ellen McDonagh gene: POMT2 was added
gene: POMT2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 POMT1 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: POMT1
Other rare neuromuscular disorders v0.3 POMT1 Ellen McDonagh gene: POMT1 was added
gene: POMT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 POMK Ellen McDonagh Added phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 for gene: POMK
Publications for gene POMK were changed from to 24556084; 24925318
Other rare neuromuscular disorders v0.3 POMK Ellen McDonagh gene: POMK was added
gene: POMK was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Other rare neuromuscular disorders v0.3 POMGNT2 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 for gene: POMGNT2
Publications for gene POMGNT2 were changed from to 27066570
Other rare neuromuscular disorders v0.3 POMGNT2 Ellen McDonagh gene: POMGNT2 was added
gene: POMGNT2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Walker-Warburg syndrome; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
Other rare neuromuscular disorders v0.3 POMGNT1 Ellen McDonagh Added phenotypes Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-Girdle Muscular Dystrophy, Recessive for gene: POMGNT1
Other rare neuromuscular disorders v0.3 POMGNT1 Ellen McDonagh gene: POMGNT1 was added
gene: POMGNT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
Other rare neuromuscular disorders v0.3 PNPLA2 Ellen McDonagh gene: PNPLA2 was added
gene: PNPLA2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA2 were set to 21544567
Phenotypes for gene: PNPLA2 were set to Neutral Lipid Storage Disease with Myopathy; Neutral lipid storage disease with myopathy, 610717
Other rare neuromuscular disorders v0.3 PLEKHG5 Ellen McDonagh gene: PLEKHG5 was added
gene: PLEKHG5 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG5 were set to 17564964
Phenotypes for gene: PLEKHG5 were set to Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Distal Spinal Muscular Atrophy
Other rare neuromuscular disorders v0.3 PLEC Ellen McDonagh Added phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 for gene: PLEC
Other rare neuromuscular disorders v0.3 PLEC Ellen McDonagh Added phenotypes myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS); Congenital myasthenic syndrome for gene: PLEC
Publications for gene PLEC were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 10446808; 27472506 (Review); 21175599; 21263134; 25683118
Other rare neuromuscular disorders v0.3 PLEC Ellen McDonagh gene: PLEC was added
gene: PLEC was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEC were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: PLEC were set to Limb-girdle muscular dystrophy; Muscular dystrophy with epidermolysis bullosa simplex, 226670
Other rare neuromuscular disorders v0.3 PHKB Ellen McDonagh gene: PHKB was added
gene: PHKB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHKB were set to 27604308
Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive
Other rare neuromuscular disorders v0.3 PGM1 Ellen McDonagh gene: PGM1 was added
gene: PGM1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM1 were set to 25929793; 19625727; 22492991
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It
Other rare neuromuscular disorders v0.3 PGAM2 Ellen McDonagh gene: PGAM2 was added
gene: PGAM2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAM2 were set to 25929793; 19273759; 8447317
Phenotypes for gene: PGAM2 were set to Glycogen storage disease X
Other rare neuromuscular disorders v0.3 PFKM Ellen McDonagh gene: PFKM was added
gene: PFKM was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFKM were set to 25929793; 8037209; 11949936
Phenotypes for gene: PFKM were set to Glycogen storage disease VII
Other rare neuromuscular disorders v0.3 NEB Ellen McDonagh Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030; Nemaline Myopathy, Recessive; nemaline myopathy for gene: NEB
Publications for gene NEB were changed from to 12207937
Other rare neuromuscular disorders v0.3 NEB Ellen McDonagh gene: NEB was added
gene: NEB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy 2, 256030
Other rare neuromuscular disorders v0.3 MYPN Ellen McDonagh gene: MYPN was added
gene: MYPN was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYPN were set to 28220527
Phenotypes for gene: MYPN were set to Congenital cap myopathy
Other rare neuromuscular disorders v0.3 MYO9A Ellen McDonagh gene: MYO9A was added
gene: MYO9A was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9A were set to 27259756
Phenotypes for gene: MYO9A were set to congenital myasthenic syndrome; CMS
Other rare neuromuscular disorders v0.3 MYO18B Ellen McDonagh gene: MYO18B was added
gene: MYO18B was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO18B were set to 27858739; 25748484; 27879346
Phenotypes for gene: MYO18B were set to KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Other rare neuromuscular disorders v0.3 MYMK Ellen McDonagh Added phenotypes Carey-Fineman-Ziter syndrome for gene: MYMK
Other rare neuromuscular disorders v0.3 MYMK Ellen McDonagh gene: MYMK was added
gene: MYMK was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYMK were set to 28681861
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome
Other rare neuromuscular disorders v0.3 MYL1 Ellen McDonagh gene: MYL1 was added
gene: MYL1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 21063730
Phenotypes for gene: MYL1 were set to congenital myopathy
Other rare neuromuscular disorders v0.3 MYBPC3 Ellen McDonagh gene: MYBPC3 was added
gene: MYBPC3 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to 19858127
Phenotypes for gene: MYBPC3 were set to myopathy and cardiomyopathy
Other rare neuromuscular disorders v0.3 MUSK Ellen McDonagh gene: MUSK was added
gene: MUSK was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUSK were set to 16550915; 19949040; 15496425; 23326516; 24183479
Phenotypes for gene: MUSK were set to Congenital Myasthenic Syndrome, Recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 MICU1 Ellen McDonagh Added phenotypes myopathy with extrapyramidal signs for gene: MICU1
Other rare neuromuscular disorders v0.3 MICU1 Ellen McDonagh gene: MICU1 was added
gene: MICU1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MICU1 were set to 24336167
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3)
Other rare neuromuscular disorders v0.3 MEGF10 Ellen McDonagh gene: MEGF10 was added
gene: MEGF10 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEGF10 were set to 22101682
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia
Other rare neuromuscular disorders v0.3 MAP3K20 Ellen McDonagh gene: MAP3K20 was added
gene: MAP3K20 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAP3K20 were set to 27816943
Phenotypes for gene: MAP3K20 were set to congenital myopathy with fibre type disproportion
Other rare neuromuscular disorders v0.3 LRP4 Ellen McDonagh gene: LRP4 was added
gene: LRP4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP4 were set to PMID: 24234652; PMID: 26052878
Phenotypes for gene: LRP4 were set to Myasthenic syndrome, congenital, 17, 616304; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 LPIN1 Ellen McDonagh gene: LPIN1 was added
gene: LPIN1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN1 were set to 25929793
Other rare neuromuscular disorders v0.3 LMOD3 Ellen McDonagh gene: LMOD3 was added
gene: LMOD3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD3 were set to PMID 25250574
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10 616165
Other rare neuromuscular disorders v0.3 LIMS2 Ellen McDonagh gene: LIMS2 was added
gene: LIMS2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: LIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIMS2 were set to 25589244
Phenotypes for gene: LIMS2 were set to Muscular dystrophy, limb-girdle, type 2W
Other rare neuromuscular disorders v0.3 LGI4 Ellen McDonagh gene: LGI4 was added
gene: LGI4 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI4 were set to 16341215; 28318499; 15857855
Phenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; Arthrogryposis Multiplex Congenita; AMCNMY
Other rare neuromuscular disorders v0.3 LDHA Ellen McDonagh gene: LDHA was added
gene: LDHA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDHA were set to 27604308; 1953713
Other rare neuromuscular disorders v0.3 LARGE1 Ellen McDonagh gene: LARGE1 was added
gene: LARGE1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Congenital Muscular Dystrophy, alpha-dystroglycan related
Other rare neuromuscular disorders v0.3 LAMB2 Ellen McDonagh gene: LAMB2 was added
gene: LAMB2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 27472506 (Review); 19251977
Phenotypes for gene: LAMB2 were set to congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations; synaptic congenital myasthenic syndrome; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 LAMA2 Ellen McDonagh gene: LAMA2 was added
gene: LAMA2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855; Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
Other rare neuromuscular disorders v0.3 KY Ellen McDonagh gene: KY was added
gene: KY was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KY were set to 27484770
Phenotypes for gene: KY were set to congenital myopathy
Other rare neuromuscular disorders v0.3 KLHL41 Ellen McDonagh gene: KLHL41 was added
gene: KLHL41 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL41 were set to 24268659
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3)
Other rare neuromuscular disorders v0.3 KLHL40 Ellen McDonagh gene: KLHL40 was added
gene: KLHL40 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL40 were set to 23746549
Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348
Other rare neuromuscular disorders v0.3 ITGA7 Ellen McDonagh gene: ITGA7 was added
gene: ITGA7 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA7 were set to 26076707; 9590299; 18045857
Phenotypes for gene: ITGA7 were set to Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204; Congenital Muscular Dystrophy, ITGA7-related
Other rare neuromuscular disorders v0.3 ISPD Ellen McDonagh Source Expert Review Red was added to ISPD.
Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 for gene: ISPD
Publications for gene ISPD were changed from to 23390185
Rating Changed from Green List (high evidence) to Red List (low evidence)
Other rare neuromuscular disorders v0.3 ISPD Ellen McDonagh gene: ISPD was added
gene: ISPD was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; 616052
Other rare neuromuscular disorders v0.3 ISCU Ellen McDonagh Added phenotypes Myopathy with lactic acidosis, hereditary, 255125 for gene: ISCU
Publications for gene ISCU were changed from 21165651; 22125086 to 18296749
Other rare neuromuscular disorders v0.3 ISCU Ellen McDonagh gene: ISCU was added
gene: ISCU was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCU were set to 21165651; 22125086
Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary
Other rare neuromuscular disorders v0.3 INPP5K Ellen McDonagh gene: INPP5K was added
gene: INPP5K was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5K were set to 28190459; 28190456
Phenotypes for gene: INPP5K were set to Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment; Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
Other rare neuromuscular disorders v0.3 IGHMBP2 Ellen McDonagh gene: IGHMBP2 was added
gene: IGHMBP2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress, 604320
Mode of pathogenicity for gene: IGHMBP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Other rare neuromuscular disorders v0.3 HTRA2 Ellen McDonagh gene: HTRA2 was added
gene: HTRA2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27696117; 27208207
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII
Other rare neuromuscular disorders v0.3 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 25929793
Other rare neuromuscular disorders v0.3 HADHA Ellen McDonagh gene: HADHA was added
gene: HADHA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 25929793
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency
Other rare neuromuscular disorders v0.3 HACD1 Ellen McDonagh gene: HACD1 was added
gene: HACD1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACD1 were set to 23933735
Phenotypes for gene: HACD1 were set to congenital myopathy
Other rare neuromuscular disorders v0.3 GYS1 Ellen McDonagh gene: GYS1 was added
gene: GYS1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYS1 were set to 27604308; 19699667; 17928598; 24579562; 21958591
Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle
Other rare neuromuscular disorders v0.3 GYG1 Ellen McDonagh gene: GYG1 was added
gene: GYG1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYG1 were set to 26652229; 26255073; 27544502; 25272951; 20357282
Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV
Other rare neuromuscular disorders v0.3 GNE Ellen McDonagh gene: GNE was added
gene: GNE was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Nonaka myopathy 605820
Other rare neuromuscular disorders v0.3 GMPPB Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 for gene: GMPPB
Publications for gene GMPPB were changed from PMID: 27147698; PMID: 26133662 to 26133662; 23768512
Other rare neuromuscular disorders v0.3 GMPPB Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: GMPPB
Other rare neuromuscular disorders v0.3 GMPPB Ellen McDonagh gene: GMPPB was added
gene: GMPPB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to PMID: 27147698; PMID: 26133662
Phenotypes for gene: GMPPB were set to MDDGC14 with features of CMS; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Congenital Myasthenic Syndrome; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 GFPT1 Ellen McDonagh gene: GFPT1 was added
gene: GFPT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFPT1 were set to 21975507; 23569079; In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous; 22230109
Phenotypes for gene: GFPT1 were set to Limb-girdle congenital myasthenic syndrome; Myasthenia, congenital, 12, with tubular aggregates, 610542; Congenital Myasthenic Syndrome, Recessive; tubular aggregates
Other rare neuromuscular disorders v0.3 GFER Ellen McDonagh gene: GFER was added
gene: GFER was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFER were set to 19409522
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Other rare neuromuscular disorders v0.3 GBE1 Ellen McDonagh gene: GBE1 was added
gene: GBE1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 15452297; 20058079
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV
Other rare neuromuscular disorders v0.3 GAA Ellen McDonagh Added phenotypes Glycogen storage disease II for gene: GAA
Publications for gene GAA were changed from to 25929793; 14695532; 18425781
Other rare neuromuscular disorders v0.3 GAA Ellen McDonagh gene: GAA was added
gene: GAA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II
Other rare neuromuscular disorders v0.3 FKTN Ellen McDonagh Added phenotypes Fukuyama congenital muscular dystrophy; Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: FKTN
Other rare neuromuscular disorders v0.3 FKTN Ellen McDonagh Added phenotypes Fukuyama congenital muscular dystrophy for gene: FKTN
Publications for gene FKTN were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 25929793
Other rare neuromuscular disorders v0.3 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152; Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800; Limb-girdle muscular dystrophy
Other rare neuromuscular disorders v0.3 FKRP Ellen McDonagh Added phenotypes Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type for gene: FKRP
Publications for gene FKRP were changed from to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Other rare neuromuscular disorders v0.3 FKRP Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 for gene: FKRP
Other rare neuromuscular disorders v0.3 FKRP Ellen McDonagh gene: FKRP was added
gene: FKRP was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
Other rare neuromuscular disorders v0.3 FKBP14 Ellen McDonagh gene: FKBP14 was added
gene: FKBP14 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP14 were set to 22265013
Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,
Other rare neuromuscular disorders v0.3 EXOSC8 Ellen McDonagh gene: EXOSC8 was added
gene: EXOSC8 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC8 were set to 24989451
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C 616081
Other rare neuromuscular disorders v0.3 EXOSC3 Ellen McDonagh gene: EXOSC3 was added
gene: EXOSC3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 22544365
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678
Other rare neuromuscular disorders v0.3 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 25929793
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC
Other rare neuromuscular disorders v0.3 ETFB Ellen McDonagh gene: ETFB was added
gene: ETFB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 25929793
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB
Other rare neuromuscular disorders v0.3 ETFA Ellen McDonagh gene: ETFA was added
gene: ETFA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 25929793
Other rare neuromuscular disorders v0.3 EPG5 Ellen McDonagh gene: EPG5 was added
gene: EPG5 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957
Phenotypes for gene: EPG5 were set to vacuolar myopathy?
Other rare neuromuscular disorders v0.3 ENO3 Ellen McDonagh gene: ENO3 was added
gene: ENO3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENO3 were set to 25929793; 25267339; 11506403
Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII
Other rare neuromuscular disorders v0.3 ECEL1 Ellen McDonagh gene: ECEL1 was added
gene: ECEL1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D 615065
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh Source Expert Review Red was added to DYSF.
Added phenotypes Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768; Miyoshi muscular dystrophy 1 254130 for gene: DYSF
Rating Changed from Green List (high evidence) to Red List (low evidence)
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh Added phenotypes Myopathy, distal, with anterior tibial onset, 606768; Muscular dystrophy, limb-girdle, type 2B, 253601; Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Publications for gene DYSF were changed from 25929793 to 25821721
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 1 for gene: DYSF
Publications for gene DYSF were changed from 20301480 to 25929793
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 1, 254130 for gene: DYSF
Publications for gene DYSF were changed from http://www.ncbi.nlm.nih.gov/books/NBK1408/ to 20301480
Other rare neuromuscular disorders v0.3 DYSF Ellen McDonagh gene: DYSF was added
gene: DYSF was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYSF were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 DPM3 Ellen McDonagh gene: DPM3 was added
gene: DPM3 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 19576565
Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io; congenital muscular dystrophies
Other rare neuromuscular disorders v0.3 DPM2 Ellen McDonagh gene: DPM2 was added
gene: DPM2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM2 were set to 23109149; 19901254
Phenotypes for gene: DPM2 were set to musclular dystrophy dystroglycanopathy syndrome with severe epilepsy; Congenital disorder of glycosylation, type Iu 615042
Other rare neuromuscular disorders v0.3 DPM1 Ellen McDonagh gene: DPM1 was added
gene: DPM1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM1 were set to congenital muscular dystrophies; Congenital disorder of glycosylation, type Ie
Other rare neuromuscular disorders v0.3 DPAGT1 Ellen McDonagh gene: DPAGT1 was added
gene: DPAGT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 22742743; 23447650; 25500013; 23591138; 23278575
Phenotypes for gene: DPAGT1 were set to Limb girdle congenital myasthenic; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ)
Other rare neuromuscular disorders v0.3 DOLK Ellen McDonagh gene: DOLK was added
gene: DOLK was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 22242004; 17273964; 23890587
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im
Other rare neuromuscular disorders v0.3 DOK7 Ellen McDonagh gene: DOK7 was added
gene: DOK7 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 22661499; 17452375; 18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.; 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300)
Phenotypes for gene: DOK7 were set to Limb girdle congenital myasthenic syndrome; Myasthenia, limb-girdle, familial; Myasthenic syndrome, congenital, 10, 254300
Other rare neuromuscular disorders v0.3 DNAJB2 Ellen McDonagh gene: DNAJB2 was added
gene: DNAJB2 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB2 were set to 22522442
Phenotypes for gene: DNAJB2 were set to Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Other rare neuromuscular disorders v0.3 DAG1 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 for gene: DAG1
Publications for gene DAG1 were changed from 24052401; 26380289 (review of mouse models); 22810924 (functional evidence); 25934851 to 21388311; 25503980
Other rare neuromuscular disorders v0.3 DAG1 Ellen McDonagh gene: DAG1 was added
gene: DAG1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to 24052401; 26380289 (review of mouse models); 22810924 (functional evidence); 25934851
Phenotypes for gene: DAG1 were set to congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9; congenital muscular dystrophies; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538; Walker-Warburg syndrome
Other rare neuromuscular disorders v0.3 CPT2 Ellen McDonagh Added phenotypes CPT II deficiency, lethal neonatal 608836; CPT II deficiency, infantile 600649; CPT II deficiency, myopathic, stress-induced 255110 for gene: CPT2
Publications for gene CPT2 were changed from 23911907; 25929793; 10873395 to 16602102
Other rare neuromuscular disorders v0.3 CPT2 Ellen McDonagh gene: CPT2 was added
gene: CPT2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 23911907; 25929793; 10873395
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced
Other rare neuromuscular disorders v0.3 COLQ Ellen McDonagh gene: COLQ was added
gene: COLQ was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLQ were set to 10441569; 9689136; 10665486; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages
Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Congenital Myasthenic Syndrome, Recessive; Myasthenic syndrome, congenital, 5, 603034
Other rare neuromuscular disorders v0.3 COL13A1 Ellen McDonagh gene: COL13A1 was added
gene: COL13A1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL13A1 were set to PMID: 26626625
Phenotypes for gene: COL13A1 were set to Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720
Other rare neuromuscular disorders v0.3 CNTN1 Ellen McDonagh gene: CNTN1 was added
gene: CNTN1 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN1 were set to 19026398
Phenotypes for gene: CNTN1 were set to ?Myopathy, congenital, Compton-North, 612540
Other rare neuromuscular disorders v0.3 CHRNG Ellen McDonagh gene: CHRNG was added
gene: CHRNG was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNG were set to 25411939; PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).; 22167768; 8040310; 27245440; 16826531
Phenotypes for gene: CHRNG were set to escobar syndrome; Neonatal congenital myasthenia; multiple pterygium syndrome/MPS; Myasthenia gravis, neonatal transient; fetal akinesia deformation sequence syndrome/FADS
Other rare neuromuscular disorders v0.3 CHKB Ellen McDonagh gene: CHKB was added
gene: CHKB was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Congenital Muscular Dystrophy, CKHB-related; Muscular dystrophy, congenital, megaconial type, 602541
Other rare neuromuscular disorders v0.3 CHAT Ellen McDonagh gene: CHAT was added
gene: CHAT was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHAT were set to 11172068; 12756141
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210; CMS-EA; Congenital myasthenics sndrome associated with episodic apnea
Other rare neuromuscular disorders v0.3 CFL2 Ellen McDonagh gene: CFL2 was added
gene: CFL2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFL2 were set to 17160903; 22560515; 24610938
Phenotypes for gene: CFL2 were set to Nemaline Myopathy, Recessive; Nemaline myopathy 7, autosomal recessive, 610687
Other rare neuromuscular disorders v0.3 CAPN3 Ellen McDonagh gene: CAPN3 was added
gene: CAPN3 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive
Other rare neuromuscular disorders v0.3 BVES Ellen McDonagh gene: BVES was added
gene: BVES was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BVES were set to 26642364
Phenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, type 2X
Other rare neuromuscular disorders v0.3 BIN1 Ellen McDonagh gene: BIN1 was added
gene: BIN1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200; Centronuclear Myopathy, Recessive
Other rare neuromuscular disorders v0.3 B4GAT1 Ellen McDonagh gene: B4GAT1 was added
gene: B4GAT1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to 23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1; 23359570
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Other rare neuromuscular disorders v0.3 B3GALNT2 Ellen McDonagh gene: B3GALNT2 was added
gene: B3GALNT2 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to 23453667
Phenotypes for gene: B3GALNT2 were set to congenital muscular dystrophies; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
Other rare neuromuscular disorders v0.3 ATP2A1 Ellen McDonagh gene: ATP2A1 was added
gene: ATP2A1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy, 601003; Brody Myopathy
Other rare neuromuscular disorders v0.3 ASAH1 Ellen McDonagh gene: ASAH1 was added
gene: ASAH1 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 22703880
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Other rare neuromuscular disorders v0.3 ANO5 Ellen McDonagh Added phenotypes Gnathodiaphyseal dysplasia, 166260; Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 for gene: ANO5
Other rare neuromuscular disorders v0.3 ANO5 Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 3 for gene: ANO5
Publications for gene ANO5 were changed from 20096397 to 25929793
Other rare neuromuscular disorders v0.3 ANO5 Ellen McDonagh Added phenotypes Miyoshi muscular dystrophy 3, 613319 for gene: ANO5
Other rare neuromuscular disorders v0.3 ANO5 Ellen McDonagh gene: ANO5 was added
gene: ANO5 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO5 were set to 20096397
Phenotypes for gene: ANO5 were set to Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy; Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319
Other rare neuromuscular disorders v0.3 AMPD1 Ellen McDonagh gene: AMPD1 was added
gene: AMPD1 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD1 were set to 15803807; 23543093; 25929793; 19258857
Phenotypes for gene: AMPD1 were set to Rhabdomyolysis
Other rare neuromuscular disorders v0.3 ALS2 Ellen McDonagh gene: ALS2 was added
gene: ALS2 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALS2 were set to 11586297; 20018642
Phenotypes for gene: ALS2 were set to juvenile amyotrophic lateral sclerosis-2, 205100
Other rare neuromuscular disorders v0.3 ALG2 Ellen McDonagh gene: ALG2 was added
gene: ALG2 was added to Neuromuscular disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG2 were set to 23404334
Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation CDG type Ii, 607906; Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Other rare neuromuscular disorders v0.3 ALG14 Ellen McDonagh gene: ALG14 was added
gene: ALG14 was added to Neuromuscular disorders. Sources: Expert Review Red
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to PMID: 23404334
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 ALDOA Ellen McDonagh gene: ALDOA was added
gene: ALDOA was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 25392908; 25929793; 8598869; 2825199; 14615364
Phenotypes for gene: ALDOA were set to Glycogen storage disease XII
Other rare neuromuscular disorders v0.3 AGRN Ellen McDonagh gene: AGRN was added
gene: AGRN was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGRN were set to 22205389; 19631309; 24951643
Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120; Congenital myasthenic syndrome
Other rare neuromuscular disorders v0.3 AGL Ellen McDonagh gene: AGL was added
gene: AGL was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 20648714; 25929793
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa
Other rare neuromuscular disorders v0.3 ACADVL Ellen McDonagh gene: ACADVL was added
gene: ACADVL was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 25929793; 9973285; 8739957
Phenotypes for gene: ACADVL were set to VLCAD deficiency
Other rare neuromuscular disorders v0.3 ACADM Ellen McDonagh gene: ACADM was added
gene: ACADM was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Rhabdomyolysis
Other rare neuromuscular disorders v0.3 ACAD9 Ellen McDonagh gene: ACAD9 was added
gene: ACAD9 was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD9 were set to 25929793
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
COVID-19 research v0.9 Ellen McDonagh List of related panels changed from to
Panel status changed from public to internal
Early onset or syndromic epilepsy v1.1 Sarah Leigh List of related panels changed from Epilepsy Plus; Epilepsy plus other features; Genetic Epilepsy Syndromes to Epilepsy Plus; Epilepsy plus other features; Genetic Epilepsy Syndromes; Epileptic encephalopathy; Familial Focal Epilepsies; Familial Genetic Generalised Epilepsies; Genetic Epilepsies with Febrile Seizures Plus (GEFS+); Genetic Epilepsies with Febrile Seizures Plus
Early onset or syndromic epilepsy v1.0 Sarah Leigh promoted panel to version 1.0
Early onset or syndromic epilepsy v0.1591 PAH Eleanor Williams Marked gene: PAH as ready
Early onset or syndromic epilepsy v0.1591 PAH Eleanor Williams Gene: pah has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1591 PAH Eleanor Williams Publications for gene: PAH were set to
Early onset or syndromic epilepsy v0.1590 PAH Eleanor Williams Phenotypes for gene: PAH were changed from to Phenylketonuria 261600
Early onset or syndromic epilepsy v0.1589 COX15 Sarah Leigh Marked gene: COX15 as ready
Early onset or syndromic epilepsy v0.1589 COX15 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1589 COX15 Sarah Leigh Gene: cox15 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1589 COX10 Sarah Leigh Marked gene: COX10 as ready
Early onset or syndromic epilepsy v0.1589 COX10 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1589 COX10 Sarah Leigh Gene: cox10 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1589 COG8 Sarah Leigh Marked gene: COG8 as ready
Early onset or syndromic epilepsy v0.1589 COG8 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1589 COG8 Sarah Leigh Gene: cog8 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1589 COG6 Sarah Leigh Marked gene: COG6 as ready
Early onset or syndromic epilepsy v0.1589 COG6 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1589 COG6 Sarah Leigh Gene: cog6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1589 COG6 Sarah Leigh Publications for gene: COG6 were set to
Early onset or syndromic epilepsy v0.1588 PAH Eleanor Williams Mode of inheritance for gene: PAH was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1587 PAH Eleanor Williams Classified gene: PAH as Green List (high evidence)
Early onset or syndromic epilepsy v0.1587 PAH Eleanor Williams Added comment: Comment on list classification: Two cases reported in recent literature of variants in PAH in patients that show Phenylketonuria with seizures. Few cases of untreated PKU since newborn screen is now routine in most countries. But many publications state that seizures are a feature of untreated PKU so rating this gene green.
Early onset or syndromic epilepsy v0.1587 PAH Eleanor Williams Gene: pah has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1586 COG4 Sarah Leigh Marked gene: COG4 as ready
Early onset or syndromic epilepsy v0.1586 COG4 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1586 COG4 Sarah Leigh Gene: cog4 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1586 VLDLR Sarah Leigh Marked gene: VLDLR as ready
Early onset or syndromic epilepsy v0.1586 VLDLR Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least two variants reported in two unrelated cases in which seizures are a phenotypic feature.
PMID: 16174313 reports seizures in 5/19 cases with autosomal recessivecerebellar hypoplasiain the Hutterite population, but does not include any genetic evidence. PMID: 18326629 reports VLDLR a c.769C>T variant in Family A, where seizures are a rare ocurrance and also a deletion including VLDLR and LOC401491 in the family described in PMID: 16080122.
Early onset or syndromic epilepsy v0.1586 VLDLR Sarah Leigh Gene: vldlr has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1586 VLDLR Sarah Leigh Tag watchlist tag was added to gene: VLDLR.
Early onset or syndromic epilepsy v0.1586 PAH Eleanor Williams commented on gene: PAH
Early onset or syndromic epilepsy v0.1586 VLDLR Sarah Leigh Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger commented on gene: PTF1A: Added watchlist tag.
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger Tag watchlist tag was added to gene: PTF1A.
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger Classified gene: PTF1A as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: Variants in PTF1A can cause Pancreatic agenesis 2, 615935 and Pancreatic and cerebellar agenesis, 609069. MIM:609069 can present with seizures, but hard to find individual cases in literature where epilepsy/seizures are recorded. Therefore Amber awaiting further cases.
Early onset or syndromic epilepsy v0.1585 PTF1A Rebecca Foulger Gene: ptf1a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1584 CYP27A1 Sarah Leigh gene: CYP27A1 was added
gene: CYP27A1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 18227423
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis 213700
Review for gene: CYP27A1 was set to RED
Added comment: Not associated with phenotype in OMIM or in Gen2Phen. At least one variant in a single case in which seizures are a phenotypic feature.
Sources: Literature
Unexplained kidney failure in young people v1.22 ANOS1 Louise Daugherty Classified gene: ANOS1 as Red List (low evidence)
Unexplained kidney failure in young people v1.22 ANOS1 Louise Daugherty Added comment: Comment on list classification: demoted gene from Green to Amber due to clinical review- this is not a childhood onset
Unexplained kidney failure in young people v1.22 ANOS1 Louise Daugherty Gene: anos1 has been classified as Red List (Low Evidence).
Unexplained kidney failure in young people v1.21 ANOS1 Louise Daugherty Added comment: Comment on publications: added publications recommended by clinical review
Unexplained kidney failure in young people v1.21 ANOS1 Louise Daugherty Publications for gene: ANOS1 were set to
Early onset or syndromic epilepsy v0.1583 PTF1A Rebecca Foulger Mode of inheritance for gene: PTF1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1582 VLDLR Sarah Leigh Deleted their comment
Early onset or syndromic epilepsy v0.1582 VLDLR Sarah Leigh Added comment: Comment on publications: Seizures were not evident in cases reported in PMIDs
Early onset or syndromic epilepsy v0.1582 VLDLR Sarah Leigh Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629
Early onset or syndromic epilepsy v0.1581 PTF1A Rebecca Foulger Publications for gene: PTF1A were set to
Early onset or syndromic epilepsy v0.1580 PTF1A Rebecca Foulger Phenotypes for gene: PTF1A were changed from to Pancreatic and cerebellar agenesis, 609069
Intellectual disability v2.583 DHDDS Rebecca Foulger Classified gene: DHDDS as Green List (high evidence)
Intellectual disability v2.583 DHDDS Rebecca Foulger Added comment: Comment on list classification: Added DHDDS to panel and rated Green: Probable DD-G2P gene for 'Epilepsy and intellectual disability' and sufficient unrelated (>3) cases of ID phenotype associated with heterozygous DHDDS variants from PMID:29100083. Plus compound het case of patient with glycosylation disorder and complex developmental phenotypes from PMID:27343064.
Intellectual disability v2.583 DHDDS Rebecca Foulger Gene: dhdds has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Marked gene: PSPH as ready
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Added comment: Comment when marking as ready: Kept as Amber due to expert review.
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Gene: psph has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Tag watchlist tag was added to gene: PSPH.
Early onset or syndromic epilepsy v0.1579 PSPH Ellen McDonagh Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency 614023
Early onset or syndromic epilepsy v0.1578 PSPH Ellen McDonagh Publications for gene: PSPH were set to
Early onset or syndromic epilepsy v0.1577 PSPH Ellen McDonagh Mode of inheritance for gene: PSPH was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Marked gene: KIF1A as ready
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Gene: kif1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Classified gene: KIF1A as Green List (high evidence)
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to expert review and enough evidence for inclusion of this gene on this panel. More than 3 unrelated cases reported.
Early onset or syndromic epilepsy v0.1576 KIF1A Ellen McDonagh Gene: kif1a has been classified as Green List (High Evidence).
Intellectual disability v2.582 DHDDS Rebecca Foulger Phenotypes for gene: DHDDS were changed from Developmental delay and seizures with or without movement abnormalities, 617836 to Developmental delay and seizures with or without movement abnormalities, 617836; ?Congenital disorder of glycosylation, type 1bb, 613861
Early onset or syndromic epilepsy v0.1575 KIF1A Ellen McDonagh Added comment: Comment on publications: PMID: 25265257 - five cases of 14 reported with de novo KIF1A variants were epileptic or had epileptic abnormalities (infantile spasms, partial complex and myoclinic seizures).
Early onset or syndromic epilepsy v0.1575 KIF1A Ellen McDonagh Publications for gene: KIF1A were set to
Early onset or syndromic epilepsy v0.1574 KIF2A Rebecca Foulger Marked gene: KIF2A as ready
Early onset or syndromic epilepsy v0.1574 KIF2A Rebecca Foulger Gene: kif2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1574 KIF2A Rebecca Foulger Classified gene: KIF2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.1574 KIF2A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 5 unrelated patients with seizures amongst their phenotypes and heterozygous variants in KIF2A from PMIDs:
27896282, 27747449 and 23603762.
Early onset or syndromic epilepsy v0.1574 KIF2A Rebecca Foulger Gene: kif2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1573 KIF1A Ellen McDonagh Phenotypes for gene: KIF1A were changed from to Mental retardation, autosomal dominant 9 614255
Early onset or syndromic epilepsy v0.1572 KIF2A Rebecca Foulger commented on gene: KIF2A: PMID:23603762 (Poirier et al., 2013) report neontal onset seizures in two patients with heterozygous KIF2A variants: patient P462 with a heterozygous variant c.961C>G, p.H321D in KIF2A, and patient p147 with a heterozygous c.950G>A (p.S317N) variant in KIF2A (supplementary Table 4).
Early onset or syndromic epilepsy v0.1572 KIF2A Rebecca Foulger commented on gene: KIF2A: PMID:27747449 (Cavallin et al 2017) detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. Case 2 had tonic-clonic seizures and the c.962A>C (p.His321Pro) variant in KIF2A.
Early onset or syndromic epilepsy v0.1572 KIF2A Rebecca Foulger commented on gene: KIF2A
Early onset or syndromic epilepsy v0.1572 PIGQ Louise Daugherty Marked gene: PIGQ as ready
Early onset or syndromic epilepsy v0.1572 PIGQ Louise Daugherty Gene: pigq has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1572 PIGQ Louise Daugherty Classified gene: PIGQ as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1572 PIGQ Louise Daugherty Added comment: Comment on list classification: changed from Red to Amber Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.1572 PIGQ Louise Daugherty Gene: pigq has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1571 VLDLR Sarah Leigh Added comment: Comment on publications: Seizures not evident in cases reported in PMID: 18043714
Early onset or syndromic epilepsy v0.1571 VLDLR Sarah Leigh Publications for gene: VLDLR were set to 27000652; 27108886; 27251579; 16174313; 16080122; 18326629
Early onset or syndromic epilepsy v0.1570 KIF1A Ellen McDonagh Mode of inheritance for gene: KIF1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1569 PIGQ Louise Daugherty Publications for gene: PIGQ were set to Martin et al (2014) Hum Mol Genet 23(12).3200-3211; 25558065
Early onset or syndromic epilepsy v0.1568 PIGQ Louise Daugherty Added comment: Comment on phenotypes: added phenotype from expert review
Early onset or syndromic epilepsy v0.1568 PIGQ Louise Daugherty Phenotypes for gene: PIGQ were changed from BIALLELIC, autosomal or pseudoautosomal to Intractable seizures; developmental delay; optic atrophy
Early onset or syndromic epilepsy v0.1567 NDUFA2 Ellen McDonagh Marked gene: NDUFA2 as ready
Early onset or syndromic epilepsy v0.1567 NDUFA2 Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1567 NDUFA2 Ellen McDonagh Classified gene: NDUFA2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1567 NDUFA2 Ellen McDonagh Added comment: Comment on list classification: Keep as amber for now on this panel, as it is unclear whether variants in this gene directly cause epilepsy/seizures. This gene is Green on the Mitochondrial panel Version 1.75, which would be applied to all patients who receive the epilepsy panel.
Early onset or syndromic epilepsy v0.1567 NDUFA2 Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1566 NDUFA2 Ellen McDonagh Classified gene: NDUFA2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1566 NDUFA2 Ellen McDonagh Added comment: Comment on list classification: Keep as amber for now on this panel, as it is unclear whether variants in this gene directly cause epilepsy/seizures. This gene is Green on the Mitochondrial panel Version 1.75, which would be applied to all patients who receive the epilepsy panel.
Early onset or syndromic epilepsy v0.1566 NDUFA2 Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1565 PIGQ Louise Daugherty Mode of inheritance for gene: PIGQ was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1564 PIGQ Louise Daugherty Phenotypes for gene: PIGQ were changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1563 NDUFA2 Ellen McDonagh Phenotypes for gene: NDUFA2 were changed from to Leigh syndrome due to mitochondrial complex I deficiency 256000
Early onset or syndromic epilepsy v0.1562 NDUFA2 Ellen McDonagh Mode of inheritance for gene: NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1561 NDUFA2 Ellen McDonagh Added comment: Comment on publications: PMID: 28857146 - unclear whether either of the genotyped cases displayed seizures/epilepsy.
Early onset or syndromic epilepsy v0.1561 NDUFA2 Ellen McDonagh Publications for gene: NDUFA2 were set to 28857146; 18513682
Early onset or syndromic epilepsy v0.1560 KIF2A Rebecca Foulger Mode of inheritance for gene: KIF2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1559 KIF2A Rebecca Foulger Publications for gene: KIF2A were set to
Early onset or syndromic epilepsy v0.1558 KIF2A Rebecca Foulger Phenotypes for gene: KIF2A were changed from to Cortical dysplasia, complex, with other brain malformations 3, 615411
Early onset or syndromic epilepsy v0.1557 PIGQ Louise Daugherty Added comment: Comment on publications: added publication suggested by external reviewer
Early onset or syndromic epilepsy v0.1557 PIGQ Louise Daugherty Publications for gene: PIGQ were set to Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Early onset or syndromic epilepsy v0.1556 PIGQ Louise Daugherty reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Marked gene: HOXA1 as ready