KRT1

PanelMode of inheritanceDetails
4 panels
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
R-numbers: R165
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Palmoplantar keratoderma, nonepidermolytic, OMIM:600962, Palmoplantar keratoderma, epidermolytic, OMIM:, 600962, Ichthyosis histrix, Curth-Macklin type, OMIM:146590, Epidermolytic hyperkeratosis, OMIM:113800, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
R-numbers: R327
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichthyosis histrix
R-numbers: R166
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis histrix, Palmoplantar keratoderma, Epidermolytic hyperkeratosis