MYH6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial non syndromic congenital heart disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

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Disease associations (Open Targets)

• hypertrophic cardiomyopathy

  0.75

• dilated cardiomyopathy 1EE

  0.74

• atrial septal defect 3

  0.72

• hypertrophic cardiomyopathy 14

  0.65

• familial isolated dilated cardiomyopathy

  0.59

• atrial septal defect

  0.54

• cardiovascular disorder

  0.46

• atrial fibrillation

  0.45

• Rare familial disorder with hypertrophic cardiomyopathy

  0.45

• hypertrophic cardiomyopathy 1

  0.44

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

Protein function (UniProt)