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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epidermolytic hyperkeratosis, OMIM:113800
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 4.0
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
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichthyosis histrix
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis histrix, Palmoplantar keratoderma, Epidermolytic hyperkeratosis