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 - narrow panel Level 2: Neurology Version 8.67 Latest signed off version: v8.0 (30 Apr 2025) 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 8.34 Latest signed off version: v8.0 (30 Apr 2025)	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 6.157 Latest signed off version: v6.0 (30 Apr 2025)	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 6.426 Latest signed off version: v6.0 (30 Apr 2025) 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 8.147 Latest signed off version: v8.0 (30 Apr 2025) 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 9.304 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes ATP6V0A1-related developmental disorder (monoallelic)