hypertrophic cardiomyopathy 1
MONDO:0008647Mondo
Findings
No curated finding names hypertrophic cardiomyopathy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
Definition from the Mondo Disease Ontology (MONDO:0008647), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYH7HGNC:7577
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- MYLK2HGNC:16243
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
8 names
Resolves to: hypertrophic cardiomyopathy 1
- Also called
- cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominantcardiomyopathy, familial hypertrophic, type 1cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominantcardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominantCMH1hypertrophic cardiomyopathy caused by mutation in MYH7hypertrophic cardiomyopathy type 1MYH7 hypertrophic cardiomyopathy