Genomics England
GMS Panels
Panels
Genes and Entities

DSG1

desmoglein 1
OMIM: 125670
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508, Keratosis palmoplantaris striata I, AD, OMIM:148700
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508, Keratosis palmoplantaris striata I, AD, OMIM:148700
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Palmoplantar keratoderma, Congenital erythroderma with palmoplantar keratoderma, Desmosomal disorders