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GTR Home > Conditions/Phenotypes > Hypertrophic cardiomyopathy 6

Hypertrophic cardiomyopathy 6

Synonyms
Familial hypertrophic cardiomyopathy 6

Summary

Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005). [from OMIM]

Available tests

66 tests are in the database for this condition.

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Clinical tests (66 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAKG, AAKG2, CMH6, H91620p, WPWS, PRKAG2
    Summary: protein kinase AMP-activated non-catalytic subunit gamma 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • EuroGenetest, 2011
    Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

Molecular resources

Consumer resources

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