JAG1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cholestasis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial non syndromic congenital heart disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Neonatal cholestasis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Alagille syndrome due to a JAG1 point mutation

  0.85

• Alagille syndrome

  0.76

• Tetralogy of Fallot

  0.74

• Charcot-Marie-Tooth disease, axonal, Type 2HH

  0.70

• deafness, congenital heart defects, and posterior embryotoxon

  0.70

• cancer

  0.58

• Abnormality of the cardiovascular system

  0.53

• hypertensive disorder

  0.52

• Abnormality of the skeletal system

  0.49

• Increased blood pressure

  0.48

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

Protein function (UniProt)