Genomics England
GMS Panels
Panels
Genes and Entities

ATP6V1E1

ATPase H+ transporting V1 subunit E1
OMIM: 108746
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa