1. Genes and Genomic Entities
  2. ATP6V1E1

ATP6V1E1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber ATP6V1E1 in Ehlers Danlos syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.20
Latest signed off version: v4.16 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIC, OMIM:617402
  • autosomal recessive cutis laxa type 2C, MONDO:0027462
Tags
  • Q3_26_promote_green
Green ATP6V1E1 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

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