CDSN

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ectodermal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Epidermolysis bullosa and congenital skin fragility

  BIALLELIC, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Non-syndromic hypotrichosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Palmoplantar keratodermas

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Peeling skin syndrome

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• peeling skin syndrome 1

  0.69

• hypotrichosis 2

  0.61

• hypotrichosis simplex of the scalp

  0.56

• generalized peeling skin syndrome

  0.52

• Pruritus

  0.37

• Hyperkeratosis

  0.37

• Erythema

  0.37

• allergic disease

  0.37

• Increased circulating IgE concentration

  0.37

• Allergy

  0.37

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

Protein function (UniProt)