Genomics England
GMS Panels
Panels
Genes and Entities

CSTA

cystatin A
OMIM: 184600
PanelMode of inheritanceDetails
2 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperhidrosis HP:0000975, Peeling skin HP:0040189, OMIM:607936, erythema HP:0010783, Peeling skin syndrome 4, 607936, palmoplantar hyperkeratosis HP:0007530, Hyperkeratosis HP:0000962, Erythroderma HP:0001019, Lichenification HP:0100725, Ichthyosis HP:0008064, skin erosions HP:0200041
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
susceptibility to psoriasis, susceptility to atopic dermatitis, Exfoliative ichthyosis/acral peeling skin syndrome