congenital heart defects, multiple types
MONDO:0000119Mondo
Findings
No curated finding names congenital heart defects, multiple types yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
11 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.
- RBFOX2HGNC:9906
- Strong · Ambry Genetics · Autosomal dominant · 2024
- CITED2HGNC:1987
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- PRKD1HGNC:9407
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- ANKRD11HGNC:21316
- Limited · Ambry Genetics · Autosomal dominant · 2018
- ASB17HGNC:19769
- Limited · Ambry Genetics · Autosomal dominant · 2019
- BMPR1AHGNC:1076
- Limited · Ambry Genetics · Autosomal dominant · 2025
- DLC1HGNC:2897
- Limited · Ambry Genetics · Autosomal dominant · 2018
- FGF10HGNC:3666
- Limited · Ambry Genetics · Autosomal dominant · 2024
- HAND2HGNC:4808
- Limited · Ambry Genetics · Autosomal dominant · 2024
- MCTP2HGNC:25636
- Limited · Ambry Genetics · Autosomal dominant · 2025
- SMAD6HGNC:6772
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (8)
- congenital heart defects, multiple types, 2
- congenital heart defects, multiple types, 3
- congenital heart defects, multiple types, 4
- congenital heart defects, multiple types, 5
- congenital heart defects, multiple types, 6
- congenital heart defects, multiple types, 8, with or without heterotaxy
- congenital heart defects, multiple types, 9
- MYH-6 related congenital heart defects