Heart failure & cardiomyopathiesResearch article
Genes Associated With Hypertrophic Cardiomyopathy
- Systematic gene curation (expert panel reappraisal of gene-disease validity)
- ClinGen gene curation framework
Authors' conclusion
We report 29 genes with definitive, strong, or moderate evidence of causation for HCM or isolated left ventricular hypertrophy, including sarcomere, sarcomere-associated, and syndromic conditions.
Study context
- Population
- Genes previously curated or newly asserted for hypertrophic cardiomyopathy (HCM) and syndromic LV hypertrophy31 recurated + 5 new genes
- Outcome
- Clinical validity classification of HCM gene-disease relationships
Main finding
As reported in the abstract
Gene-disease classification
Recurated genes changing classification
17 (55%)
Clinically relevant upgrade (incl. TNNC1, definitive)
3 (10%)
Downgraded to disputed
9 (29%)
Genes with definitive, strong or moderate evidence for HCM or isolated LV hypertrophy
29
Original publication
Genes Associated With Hypertrophic Cardiomyopathy. J Am Coll Cardiol. Published 25 February 2025. doi:10.1016/j.jacc.2024.12.010
Summarised from the published abstract; every number is checked against it