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  3. NR2F2
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Intellectual disability syndromic and non-syndromic

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

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

In addition to already added evidence, PMID:37500725 reported 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
Created: 13 Sep 2023, 1:06 p.m. | Last Modified: 13 Sep 2023, 1:06 p.m.
Panel Version: 0.5399

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 13 Sep 2023, 1:06 p.m.
Last Modified: 13 Sep 2023, 1:06 p.m.
Panel version: 0.5399

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: 0.2489

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, NR2F2-related
OMIM
107773
Clinvar variants
Variants in NR2F2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Sep 2023, 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).

16 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NR2F2 were changed from mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features to Syndromic disease, MONDO:0002254, NR2F2-related

16 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NR2F2 were set to 29478779; 29663647

16 Sep 2023, 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).

26 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: nr2f2 has been classified as Amber List (Moderate Evidence).

26 Mar 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: NR2F2 was added gene: NR2F2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR2F2 were set to 29478779; 29663647 Phenotypes for gene: NR2F2 were set to mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features Penetrance for gene: NR2F2 were set to Complete Review for gene: NR2F2 was set to AMBER