1. Genes and Genomic Entities
  2. DSG3

DSG3

desmoglein 3
OMIM: 169615, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red DSG3 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 Red
  • NHS GMS
Phenotypes
  • Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226