DSC3

desmocollin 3
OMIM: 600271, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red DSC3 in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • hypotrichosis and recurrent skin vesicles disorder, 613102
  • HRSV
  • ?Hypotrichosis and recurrent skin vesicles, 613102
Amber DSC3 in Epidermolysis bullosa and congenital skin fragility


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Hypotrichosis and recurrent skin vesicles, OMIM:613102
Red DSC3 in Ectodermal dysplasia


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hypotrichosis and recurrent skin vesicles disorder, 613102
  • HRSV
  • ?Hypotrichosis and recurrent skin vesicles, 613102
Green DSC3 in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders
  • Palmoplantar keratoderma, woolly hair
  • Hypotrichosis and recurrent skin vesicles, OMIM:613102
  • hereditary hypotrichosis with recurrent skin vesicles, MONDO:0013136