DSC3

desmocollin 3
OMIM: 600271, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber DSC3 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.22

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotrichosis and recurrent skin vesicles (MIM# 613102)

Amber DSC3 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotrichosis and recurrent skin vesicles MIM#613102

Amber DSC3 in Hair disorders


Level 2: Dermatological disorders
Version 0.81

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypotrichosis and recurrent skin vesicles MIM#613102