PDGFB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intracerebral calcification disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Parkinson Disease and Complex Parkinsonism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Structural basal ganglia disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• White matter disorders and cerebral calcification - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• bilateral striopallidodentate calcinosis

  0.79

• Basal ganglia calcification

  0.78

• meningioma

  0.46

• inflammatory bowel disease

  0.45

• ulcerative colitis

  0.44

• dermatofibrosarcoma protuberans

  0.43

• Crohn disease

  0.43

• age-related macular degeneration

  0.39

• cancer

  0.39

• retinal disorder

  0.39

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

Protein function (UniProt)