EDN3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Familial Hirschsprung Disease

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Monogenic hearing loss

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Paediatric pseudo-obstruction syndrome

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Pigmentary skin disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

• Sudden death in young people

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Waardenburg syndrome type 4B

  0.75

• Waardenburg-Shah syndrome

  0.70

• Hirschsprung disease

  0.61

• Waardenburg syndrome

  0.49

• Ondine syndrome

  0.44

• hair color

  0.42

• central hypoventilation syndrome, congenital

  0.42

• central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

  0.42

• punctate palmoplantar keratoderma type III

  0.37

• inflammatory bowel disease

  0.33

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

Protein function (UniProt)