Genomics England
GMS Panels
Panels
Genes and Entities

KRT1

keratin 1
OMIM: 139350
PanelMode of inheritanceDetails
4 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EHK, Epidermolytic hyperkeratosis, 113800, Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Palmoplantar keratoderma, nonepidermolytic, 600962, Palmoplantar keratoderma, epidermolytic, 1, Ichthyosis histrix, Curth-Macklin type, 146590, Epidermolytic hyperkeratosis, 113800, Diffuse palmoplantar keratoderma, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602, triate keratoderma
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichthyosis histrix
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis histrix, Palmoplantar keratoderma, Epidermolytic hyperkeratosis