PanelApp
  1. Genes and Genomic Entities
  2. DSG1

DSG1

desmoglein 1
OMIM: 125670, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DSG1 in Desmosomal disorders


Level 2: Dermatological disorders
Version 0.33

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)
  • Keratosis palmoplantaris striata I, AD (MIM# 148700)

Green DSG1 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.22

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)
  • Keratosis palmoplantaris striata I, AD (MIM# 148700)

Green DSG1 in Mendeliome


Version 1.3490

1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)
  • Keratosis palmoplantaris striata I, AD (MIM# 148700)

Green DSG1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.136

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green DSG1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.135

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Other
    Phenotypes
    • severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218

    Amber DSG1 in Fetal anomalies


    Version 1.462

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)