ACTA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Congenital myopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Distal myopathies

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• congenital myopathy 2a, typical, autosomal dominant

  0.86

• progressive scapulohumeroperoneal distal myopathy

  0.71

• congenital myopathy 2c, severe infantile, autosomal dominant

  0.71

• alpha-actinopathy

  0.69

• congenital myopathy 2b, severe infantile, autosomal recessive

  0.69

• nemaline myopathy

  0.64

• congenital fiber-type disproportion myopathy

  0.62

• severe congenital nemaline myopathy

  0.56

• congenital myopathy

  0.49

• myopathy

  0.47

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

Protein function (UniProt)