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 Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508
  • Keratosis palmoplantaris striata I, AD, 148700
Green DSG1 in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508
  • Keratosis palmoplantaris striata I, AD, OMIM:148700
Green DSG1 in Epidermolysis bullosa and congenital skin fragility


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508
  • Keratosis palmoplantaris striata I, AD, OMIM:148700
Green DSG1 in Palmoplantar keratodermas


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
  • Congenital erythroderma with palmoplantar keratoderma
  • Desmosomal disorders
Amber DSG1 in Fetal anomalies


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING
Green DSG1 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508