TGFBR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• COVID-19 research

  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

• Infantile enterocolitis & monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Pneumothorax - familial

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Loeys-Dietz syndrome

  0.85

• Loeys-Dietz syndrome 2

  0.79

• Marfan syndrome

  0.71

• familial thoracic aortic aneurysm and aortic dissection

  0.68

• Marfan syndrome type 2

  0.68

• esophageal cancer

  0.66

• neurodegenerative disease

  0.57

• colorectal cancer, hereditary nonpolyposis, type 6

  0.56

• cancer

  0.55

• breast carcinoma

  0.53

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

Protein function (UniProt)