Genomics England
GMS Panels
Panels
Genes and Entities

CSTA

cystatin A
OMIM: 184600
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE 607936
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 Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 4, OMIM:607936
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
susceptibility to psoriasis, susceptility to atopic dermatitis, Exfoliative ichthyosis/acral peeling skin syndrome