Congenital Heart Defect
Gene: NR2F2

NR2F2 (nuclear receptor subfamily 2 group F member 2)
EnsemblGeneIds (GRCh38): ENSG00000185551
EnsemblGeneIds (GRCh37): ENSG00000185551
OMIM: 107773, Gene2Phenotype
NR2F2 is in 6 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Created: 27 Mar 2022, 10:58 p.m. | Last Modified: 27 Mar 2022, 10:58 p.m.

Panel Version: 0.212

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779

Publications

Created: 27 Mar 2022, 10:58 p.m.
Last Modified: 27 Mar 2022, 10:58 p.m.
Panel version: 0.212

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

46,XX sex reversal 5 - MIM#618901
Congenital heart defects, multiple types, 4 - MIM#615779

OMIM

107773

Clinvar variants

Variants in NR2F2

Penetrance

None

Publications

Panels with this gene