Genomics England
GMS Panels
Panels
Genes and Entities

ATP2C1

ATPase secretory pathway Ca2+ transporting 1
OMIM: 604384
PanelMode of inheritanceDetails
1 panel
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hailey-Hailey disease, OMIM:169600