ATP2C1

ATPase secretory pathway Ca2+ transporting 1
OMIM: 604384, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ATP2C1 in Epidermolysis bullosa and congenital skin fragility


Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hailey-Hailey disease, OMIM:169600