SERPINB8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Epidermolysis bullosa and congenital skin fragility

  BIALLELIC, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Palmoplantar keratodermas

  BIALLELIC, autosomal or pseudoautosomal

• Peeling skin syndrome

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• peeling skin syndrome 5

  0.64

• exfoliative ichthyosis

  0.62

• ichthyosis

  0.37

• peeling skin syndrome

  0.37

• Skin erosion

  0.37

• Erythema

  0.37

• Palmoplantar hyperkeratosis

  0.37

• generalized peeling skin syndrome

  0.37

• peeling skin syndrome type A

  0.37

• smoking initiation

  0.27

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

Protein function (UniProt)