congenital heart defects, multiple types, 6
Findings
No curated finding names congenital heart defects, multiple types, 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013463), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Transposition of the great arteriesHPOHP:0001669
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.
- HGNC:4214HGNC:4214
- Definitive · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- No Known Disease Relationship · Illumina · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: congenital heart defects, multiple types, 6
- Also called
- dextro-looped transposition of the great arteries caused by mutation in GDF1dextro-looped transposition of the great arteries type 3DTGA3GDF1 dextro-looped transposition of the great arteriestransposition of the great arteries, dextro-looped type 3