atrioventricular septal defect 5
Findings
No curated finding names atrioventricular septal defect 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013769), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atrioventricular canal defectHPOHP:0006695
- 1 of 1 reported patient
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 1 reported patient
- Muscular ventricular septal defectHPOHP:0011623
- 1 of 1 reported patient
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 · G2P · Autosomal dominant · 2015
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: atrioventricular septal defect 5
- Also called
- atrioventricular septal defect caused by mutation in GATA6atrioventricular septal defect type 5GATA6 atrioventricular septal defect