HAND2 related congenital heart defect
MONDO:0800476Mondo
Findings
No curated finding names HAND2 related congenital heart defect 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 caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.
Definition from the Mondo Disease Ontology (MONDO:0800476), 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.
- HAND2HGNC:4808
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
7 names
Resolves to: HAND2 related congenital heart defect
- Also called
- bHLHa26DHANDDHAND2HAND2-related congenital heart defectHedHLH transcription factor HAND2Thing2