Genomics England
GMS Panels
Panels
Genes and Entities

KRT5

keratin 5
OMIM: 148040
PanelMode of inheritanceDetails
2 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760, Epidermolysis bullosa simplex, Koebner type, OMIM:131900, Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960, Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DOWLING-DEGOS DISEASE 1, DDD1, Epidermolysis bullosa, Dowling-Degos disease