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  3. NR2F2
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Fetal anomalies

Gene: NR2F2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.

CDH reported in more than 3 unrelated individuals.
Sources: Expert list
Created: 14 Nov 2020, 6:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects, multiple types, 4, MIM# 615779

Publications

Created: 14 Nov 2020, 6:09 a.m.

Panel version: Imported from Congenital diaphragmatic hernia panel version 0.23

Sue White (Victorian Clinical Genetics Services)

I don't know

Established gene for congenital heart disease and DSD and emerging gene for ID. 2 unrelated individuals published with mild or borderline ID, dysmorphism and de novo truncating/missense variants.
Sources: Literature
Created: 26 Mar 2020, 9:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features

Publications

Created: 26 Mar 2020, 9:38 p.m.

Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2489

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Literature
Phenotypes
  • Congenital heart defects, multiple types, 4, MIM# 615779
OMIM
107773
Clinvar variants
Variants in NR2F2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nr2f2 has been classified as Green List (High Evidence).

2 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NR2F2 were changed from CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 to Congenital heart defects, multiple types, 4, MIM# 615779

2 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NR2F2 were set to

2 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NR2F2 was added gene: NR2F2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4