ACTN2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hypertrophic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

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Disease associations (Open Targets)

• dilated cardiomyopathy 1AA

  0.79

• myopathy, congenital, with structured cores and z-line abnormalities

  0.56

• Rare familial disorder with hypertrophic cardiomyopathy

  0.51

• autosomal dominant dilated cardiomyopathy

  0.50

• neurodegenerative disease

  0.50

• cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction

  0.49

• intrinsic cardiomyopathy

  0.47

• myopathy, distal, 6, adult-onset, autosomal dominant

  0.47

• familial hypertrophic cardiomyopathy

  0.45

• ACTN2-related cardiac and skeletal myopathy

  0.45

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

Protein function (UniProt)