atrial septal defect 6
MONDO:0013123Mondo
Findings
No curated finding names atrial septal defect 6 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 TLL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013123), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- TLL1HGNC:11843
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2019
- Limited · G2P · Autosomal dominant · 2015
Where it sits
- A kind of
Other names
5 names
Resolves to: atrial septal defect 6
- Also called
- ASD6atrial heart septal defect caused by mutation in TLL1atrial heart septal defect type 6atrial septal defect type 6TLL1 atrial heart septal defect