ATP6V0A1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ATP6V0A1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 104 MIM#619970
  • Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971

Green ATP6V0A1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 104 MIM#619970
    • Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971

    Green ATP6V0A1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 104 MIM#619970
    • Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971

    Green ATP6V0A1 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 104 MIM#619970
    • Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971