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 1.49
Latest signed off version: v1.3 (15 Oct 2020)

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