1. Genes and Genomic Entities
  2. ATP6V1A

ATP6V1A

ATPase H+ transporting V1 subunit A
OMIM: 607027, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ATP6V1A in Ehlers Danlos syndrome with a likely monogenic cause

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cutis laxa, autosomal recessive, type IID, OMIM:617403
Green ATP6V1A in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Autosomal Recessive Cutis Laxa (AR)
    • Epileptic encephalopathy, infantile or early childhood, 3 (AD)
    Green ATP6V1A in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Epileptic encephalopathy, infantile or early childhood, 3 618012
    • Cutis laxa, autosomal recessive, type IID 617403
    Green ATP6V1A in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 93, OMIM:618012
    Green ATP6V1A in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cutis laxa, autosomal recessive, type IID, OMIM:617403
    • Developmental and epileptic encephalopathy 93, OMIM:618012