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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 4, OMIM:607936
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
susceptibility to psoriasis, susceptility to atopic dermatitis, Exfoliative ichthyosis/acral peeling skin syndrome