SPINK5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Palmoplantar keratodermas

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Severe multi-system atopic disease with high IgE

  BIALLELIC, autosomal or pseudoautosomal

• Epidermolysis bullosa and congenital skin fragility

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

Disease associations (Open Targets)

• Netherton syndrome

  0.80

• ichthyosis linearis circumflexa

  0.57

• erythematosquamous dermatosis

  0.37

• seborrheic dermatitis

  0.37

• atopic IgE-mediated allergic disorder

  0.37

• IgE responsiveness, atopic

  0.37

• exfoliative dermatitis

  0.33

• Increased circulating IgE concentration

  0.33

• neurodegenerative disease

  0.29

• hereditary disease

  0.20

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)