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Differences in sex development

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 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. Additional comments from reviewing GLHs: 'Patients present with congenital heart disease.'
Created: 31 Jan 2023, 4:46 p.m. | Last Modified: 31 Jan 2023, 4:46 p.m.
Panel Version: 3.2
Created: 31 Jan 2023, 4:46 p.m.
Last Modified: 31 Jan 2023, 4:46 p.m.
Panel version: 3.2

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be Green at the next review.
Created: 1 Mar 2021, 12:16 p.m. | Last Modified: 1 Mar 2021, 12:16 p.m.
Panel Version: 2.18
Created: 1 Mar 2021, 12:16 p.m.
Last Modified: 1 Mar 2021, 12:16 p.m.
Panel version: 2.18

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported. Note two had the same 7bp deletion, c.97_103delCCGCCCG, NM_021005.3, and the third individual had an adjacent deletion, c.103_109delGGCGCCC, NM_021005.3. All three were of very different ancestries, making founder effect unlikely. Fourth individual had a larger deletion encompassing this gene. Gene is also linked with isolated CHD (Congenital heart defects, multiple types, 4, MIM# 615779)
Sources: Expert list
Created: 4 Jun 2020, 9 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
46,XX disorder of sex development (DSD) and congenital heart defects

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jun 2020, 9 a.m.

Panel version: 2.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 46,XX sex reversal 5, OMIM:618901
  • 46,XX sex reversal 5, MONDO:0030049
OMIM
107773
Clinvar variants
Variants in NR2F2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from gene: NR2F2.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to NR2F2. Source NHS GMS was added to NR2F2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Mar 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: NR2F2.

1 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

1 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NR2F2 were changed from 46,XX disorder of sex development (DSD) and congenital heart defects to 46,XX sex reversal 5, OMIM:618901; 46,XX sex reversal 5, MONDO:0030049

4 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NR2F2 was added gene: NR2F2 was added to Disorders of sex development. Sources: Expert list Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR2F2 were set to 29478779; 31687637 Phenotypes for gene: NR2F2 were set to 46,XX disorder of sex development (DSD) and congenital heart defects Review for gene: NR2F2 was set to GREEN