MYH7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Distal myopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hypertrophic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Left Ventricular Noncompaction Cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hypertrophic cardiomyopathy

  0.89

• congenital myopathy 7A, myosin storage, autosomal dominant

  0.80

• left ventricular noncompaction

  0.79

• MYH7-related skeletal myopathy

  0.78

• hypertrophic cardiomyopathy 1

  0.76

• cardiomyopathy

  0.76

• dilated cardiomyopathy

  0.72

• familial isolated dilated cardiomyopathy

  0.71

• myopathy, myosin storage, autosomal recessive

  0.71

• Laing early-onset distal myopathy

  0.71

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

Protein function (UniProt)

Diseases associated with MYH7

Curated MONDO disease pages that list MYH7 among their top associated genes.

• hypertrophic cardiomyopathyRare
• cardiomyopathyRare
• dilated cardiomyopathyRare
• familial isolated dilated cardiomyopathyRare