Familial non syndromic congenital heart disease
Gene: NR2F2EnsemblGeneIds (GRCh38): ENSG00000185551
EnsemblGeneIds (GRCh37): ENSG00000185551
OMIM: 107773, Gene2Phenotype
NR2F2 is in 5 panels
2 reviews
Richard Scott (Genomics England Curator)
Comment on list classification: As per review, see PMID 24702954Created: 18 Jan 2017, 11:05 a.m.
Good data from PMID 24702954Created: 18 Jan 2017, 11:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Alice Gardham (Genomics England)
Comment on list classification: Reasonable number of reported cases and recognised on G2PCreated: 30 Nov 2016, 4:17 p.m.
Identified in 9 families. Mostly seems to be associated with AVSD but also in one patient with HLH, one with TOF, two brothers with AVSD and aortic stenosis and one patient with co-arctation of the aorta. Recognised on G2PCreated: 30 Nov 2016, 11:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital heart defects, multiple types, 4 615779
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Congenital heart defects, multiple types, 4 615779
- OMIM
- 107773
- Clinvar variants
- Variants in NR2F2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Created
Alice Gardham (Genomics England)NR2F2 was created by agardham
Added New Source
Alice Gardham (Genomics England)NR2F2 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature