TGFB3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ehlers Danlos syndrome with a likely monogenic cause

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Pneumothorax - familial

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Thoracic aortic aneurysm or dissection

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Rienhoff syndrome

  0.79

• arrhythmogenic right ventricular dysplasia 1

  0.67

• Loeys-Dietz syndrome

  0.65

• familial thoracic aortic aneurysm and aortic dissection

  0.65

• myelodysplastic syndrome

  0.56

• anemia

  0.53

• Rare disease with thoracic aortic aneurysm and aortic dissection

  0.51

• anemia (phenotype)

  0.48

• Beta-thalassemia

  0.48

• pulmonary emphysema

  0.37

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

Protein function (UniProt)