Genomics England
GMS Panels
Panels
Genes and Entities

SPINK5

serine peptidase inhibitor, Kazal type 5
OMIM: 605010
PanelMode of inheritanceDetails
4 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Netherton syndrome, OMIM: 256500
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Netherton Syndrome
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Netherton syndrome 256500, Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive, Combined immunodeficiencies with associated or syndromic features