MYL3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hypertrophic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

Disease associations (Open Targets)

• hypertrophic cardiomyopathy

  0.83

• Rare familial disorder with hypertrophic cardiomyopathy

  0.53

• Abnormality of the cardiovascular system

  0.50

• familial hypertrophic cardiomyopathy

  0.50

• cardiovascular disorder

  0.46

• cardiomyopathy

  0.43

• heart failure

  0.39

• chondrodysplasia Blomstrand type

  0.33

• metaphyseal chondrodysplasia, Jansen type

  0.32

• Eiken syndrome

  0.31

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

Protein function (UniProt)

Diseases associated with MYL3

Curated MONDO disease pages that list MYL3 among their top associated genes.

• hypertrophic cardiomyopathyRare