EDNRB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Familial Hirschsprung Disease

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

• Fetal anomalies

  BIALLELIC, 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

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Non-syndromic familial congenital anorectal malformations

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Disease associations (Open Targets)

• Waardenburg syndrome type 4A

  0.78

• Waardenburg-Shah syndrome

  0.69

• ABCD syndrome

  0.65

• pulmonary arterial hypertension

  0.62

• pulmonary hypertension

  0.59

• hypertensive disorder

  0.57

• systemic sclerosis

  0.56

• Hirschsprung disease

  0.55

• Waardenburg syndrome

  0.50

• Abnormality of the skeletal system

  0.48

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

Protein function (UniProt)