1. Genes and Genomic Entities
  2. ATP6V1E1

ATP6V1E1

ATPase H+ transporting V1 subunit E1
OMIM: 108746, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ATP6V1E1 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa