BMPR1B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary ovarian insufficiency

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Pulmonary arterial hypertension

  Unknown

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Disease associations (Open Targets)

• brachydactyly type A2

  0.76

• acromesomelic dysplasia 3

  0.74

• brachydactyly type A1

  0.63

• diverticular disease

  0.49

• bone disorder

  0.46

• acromesomelic dysplasia 2B

  0.46

• brachydactyly

  0.43

• Menorrhagia

  0.42

• Acromesomelic dysplasia, Grebe type

  0.39

• coronary artery disorder

  0.39

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

Protein function (UniProt)

Diseases associated with BMPR1B

Curated MONDO disease pages that list BMPR1B among their top associated genes.

• placental abruptionRare