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ATP6V0A1

ATPase H+ transporting V0 subunit a1
OMIM: 192130, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ATP6V0A1 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.26 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes ATP6V0A1-related developmental disorder (monoallelic)
Green ATP6V0A1 in Severe microcephaly Level 2: Neurology Version 9.18 Latest signed off version: v9.13 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes ATP6V0A1-related developmental disorder (monoallelic)
Amber ATP6V0A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.1 Latest signed off version: v8.0 (12 Aug 2026)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 104, OMIM:619970 Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971
Green ATP6V0A1 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP6V0A1-related developmental disorder (monoallelic)
Green ATP6V0A1 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.68 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes ATP6V0A1-related developmental disorder (monoallelic) Tags watchlist_moi
Green ATP6V0A1 in Intellectual disability Level 2: Developmental disorders Version 11.9 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes ATP6V0A1-related developmental disorder (monoallelic)