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Intellectual disability
Gene: NR2F2

NR2F2 (nuclear receptor subfamily 2 group F member 2)
EnsemblGeneIds (GRCh38): ENSG00000185551
EnsemblGeneIds (GRCh37): ENSG00000185551
OMIM: 107773, Gene2Phenotype
NR2F2 is in 5 panels

7 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.

Panel Version: 6.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 3 May 2024, 11:55 a.m.
Last Modified: 3 May 2024, 11:55 a.m.
Panel version: 6.11

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
Created: 13 Sep 2023, 12:48 p.m. | Last Modified: 13 Sep 2023, 12:48 p.m.

Panel Version: 5.277

This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype. Some patients with CHD (MIM #615779) are reported with developmental delays in the OMIM record.

PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant.

PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication 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, 12:37 p.m. | Last Modified: 13 Sep 2023, 12:46 p.m.

Panel Version: 5.276

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 13 Sep 2023, 12:37 p.m.
Last Modified: 13 Sep 2023, 12:46 p.m.
Panel version: 5.274

Katherine Lachlan (University Hospitals Southampton)

Green List (high evidence)

Recent publication Eur J Hum Genet
. 2023 Jul 27. doi: 10.1038/s41431-023-01434-5. Online ahead of print.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Created: 5 Sep 2023, 2:53 p.m. | Last Modified: 5 Sep 2023, 2:53 p.m.

Panel Version: 5.271

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
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; vascular malformations

Publications

PMID: 37500725

Created: 5 Sep 2023, 2:53 p.m.
Last Modified: 5 Sep 2023, 2:53 p.m.
Panel version: 5.271

Arina Puzriakova (Genomics England Curator)

Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark
Created: 17 Aug 2020, 10:09 a.m. | Last Modified: 17 Aug 2020, 10:09 a.m.

Panel Version: 3.253

Created: 17 Aug 2020, 10:09 a.m.
Last Modified: 17 Aug 2020, 10:09 a.m.
Panel version: 3.253

Zornitza Stark (Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype.
Created: 6 Mar 2020, 3:51 a.m. | Last Modified: 6 Mar 2020, 3:51 a.m.

Panel Version: 3.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 6 Mar 2020, 3:51 a.m.
Last Modified: 6 Mar 2020, 3:51 a.m.
Panel version: 3.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 7:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

25529582

Created: 2 Aug 2017, 9:02 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:02 p.m.

Created: 28 Jul 2017, 3:02 p.m.

Panel version: 1.308

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

Congenital heart defects, multiple types, 4, 615779

OMIM

107773

Clinvar variants

Variants in NR2F2

Penetrance

Complete

Publications

Panels with this gene