conotruncal heart malformations
Findings
No curated finding names conotruncal heart malformations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
Definition from the Mondo Disease Ontology (MONDO:0016581), read 2026-09-29. CC BY 4.0.
Genes
5 genes
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.
- NKX2-5HGNC:2488
- Definitive · Ambry Genetics · Semidominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- TBX1HGNC:11592
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- NKX2-6HGNC:32940
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- GATA6HGNC:4174
- Limited · Ambry Genetics · Autosomal recessive · 2018
- HGNC:4214HGNC:4214
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: conotruncal heart malformations
- Also called
- conotruncal heart malformations, variableTaussig-Bing syndrome or defect