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| Congenital diaphragmatic hernia v0.24 | NR2F2 | Zornitza Stark Marked gene: NR2F2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.24 | NR2F2 | Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.24 | NR2F2 | Zornitza Stark Classified gene: NR2F2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.24 | NR2F2 | Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.23 | NR2F2 |
Zornitza Stark gene: NR2F2 was added gene: NR2F2 was added to Congenital diaphragmatic hernia. Sources: Expert list Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR2F2 were set to 29570242; 29966037; 27363585 Phenotypes for gene: NR2F2 were set to Congenital heart defects, multiple types, 4, MIM# 615779 Review for gene: NR2F2 was set to GREEN Added comment: The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported. Some exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastro-oesophageal reflux. CDH reported in more than 3 unrelated individuals. Sources: Expert list |
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