SMAD6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Syndromic and non syndromic craniosynostosis involving midline sutures

  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, NOT imprinted

• Thoracic aortic aneurysm or dissection

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Disease associations (Open Targets)

• familial bicuspid aortic valve

  0.70

• congenital radioulnar synostosis

  0.66

• aortic valve disease 2

  0.56

• hereditary disease

  0.48

• aortic stenosis

  0.48

• Abnormality of the skeletal system

  0.44

• open-angle glaucoma

  0.43

• Abnormal heart morphology

  0.43

• colorectal cancer

  0.42

• Abnormal facial skeleton morphology

  0.42

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

Protein function (UniProt)