ATP2C1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ATP2C1 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hailey-Hailey disease (MIM# 169600)

Green ATP2C1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hailey-Hailey disease (MIM#169600)