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GTR Home > Conditions/Phenotypes > Hypertrophic cardiomyopathy 17

Hypertrophic cardiomyopathy 17

Synonyms
Familial hypertrophic cardiomyopathy 17

Summary

An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the JPH2 gene, encoding junctophilin-2. [from NCI]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD2E, CMH17, JP-2, JP2, JPH2
    Summary: junctophilin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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