congenital heart defects, multiple types, 5
MONDO:0060663Mondo
Findings
No curated finding names congenital heart defects, multiple types, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- Ventricular septal defectHPOHP:0001629
- 6 of 10 reported patients
- Atrial septal defectHPOHP:0001631
- 2 of 10 reported patients
- Tetralogy of FallotHPOHP:0001636
- 2 of 10 reported patients
- Aortic valve stenosisHPOHP:0001650
- 1 of 10 reported patients
- Double outlet right ventricleHPOHP:0001719
- 1 of 10 reported patients
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.
- GATA5HGNC:15802
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021