GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetes
Findings
No curated finding names GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetes yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital heart disease caused by a variation in the GATA6 gene, occurring with or without other syndromic features including pancreatic hypoplasia or agenesis and diabetes. Representative cardiac examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, and persistent truncus arteriosus.
Definition from the Mondo Disease Ontology (MONDO:0100540), 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.
- GATA6HGNC:4174
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetes
- Also called
- GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes