Genomics England
GMS Panels
Panels
Genes and Entities

DSG1

desmoglein 1
OMIM: 125670
PanelMode of inheritanceDetails
3 panels
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 3.2
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 Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Palmoplantar keratoderma, Congenital erythroderma with palmoplantar keratoderma, Desmosomal disorders