BMPR1A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult solid tumours for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Colorectal cancer pertinent cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• GI tract tumours

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited polyposis and early onset colorectal cancer - germline testing

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• juvenile polyposis syndrome

  0.83

• hereditary mixed polyposis syndrome

  0.73

• generalized juvenile polyposis/juvenile polyposis coli

  0.64

• Inherited cancer-predisposing syndrome

  0.58

• hereditary neoplastic syndrome

  0.58

• bone disorder

  0.46

• familial colorectal cancer type X

  0.46

• neurodegenerative disease

  0.42

• colorectal cancer

  0.38

• tibia fracture

  0.37

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

Protein function (UniProt)