MYH-6 related congenital heart defects
MONDO:0800442Mondo
Findings
No curated finding names MYH-6 related congenital heart defects yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.
Definition from the Mondo Disease Ontology (MONDO:0800442), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- MYH6HGNC:7576
- Definitive · ClinGen · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: MYH-6 related congenital heart defects
- Also called
- MYH6 related congenital heart defects