atrial septal defect 4
MONDO:0012654Mondo
Findings
No curated finding names atrial septal defect 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.
Definition from the Mondo Disease Ontology (MONDO:0012654), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Coarctation of aortaHPOHP:0001680
- Occasional (5% to 29% of cases)
- Patent foramen ovaleHPOHP:0001655
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
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.
- TBX20HGNC:11598
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: atrial septal defect 4
- Also called
- ASD4atrial heart septal defect caused by mutation in TBX20atrial heart septal defect type 4atrial septal defect type 4TBX20 atrial heart septal defect