ACTB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Bleeding and platelet disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset dystonia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Baraitser-Winter syndrome 1

  0.81

• developmental malformations-deafness-dystonia syndrome

  0.74

• Baraitser-Winter syndrome

  0.73

• Developmental malformations - deafness - dystonia

  0.71

• ACTB-associated syndromic thrombocytopenia

  0.70

• Baraitser-Winter cerebrofrontofacial syndrome

  0.66

• cancer

  0.61

• Becker nevus syndrome

  0.60

• Short stature - intellectual disability - eye anomalies - cleft lip/palate

  0.57

• hereditary disease

  0.54

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

Protein function (UniProt)