Genomics England
GMS Panels
Panels
Genes and Entities

CAST

calpastatin
OMIM: 114090
PanelMode of inheritanceDetails
3 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin HP:0040189, Leukonychia HP:0001820, OMIM:#616295, Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295, Punctate palmoplantar hyperkeratosis HP:0007530, Knuckle pads., Cheilitis HP:0100825
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads