Disorders of sex development

Gene: ESR2

Amber List (moderate evidence)

ESR2 (estrogen receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000140009
EnsemblGeneIds (GRCh37): ENSG00000140009
OMIM: 601663, Gene2Phenotype
ESR2 is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Created: 17 Mar 2021, 4:32 p.m. | Last Modified: 17 Mar 2021, 4:32 p.m.
Panel Version: 2.35

Zornitza Stark (Australian Genomics)

I don't know

A homozygous indel (Asn181del) was identified in a syndromic case with 46,XY DSD, and 2 heterozygous missense variants were identified in 2 non-syndromic cases with 46,XY DSD. Asn181del and Leu426Arg were found to have significantly increased transcriptional activation in in vitro luciferase assays. Esrb null male mice showed no overt abnormalities and reproduced normally. Older mutant males displayed signs of prostate and bladder hyperplasia.
A further individual reported with 46,XX karyotype and ovarian dysgenesis (PMID: 30113650)
Sources: Expert list
Created: 15 Jul 2020, 7:32 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • 46,XY disorder of sex development, MONDO:0020040
  • ?Ovarian dysgenesis 8, OMIM:618187
Tags
watchlist
OMIM
601663
Clinvar variants
Variants in ESR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: esr2 has been classified as Amber List (Moderate Evidence).

17 Mar 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: ESR2.

17 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187 to 46,XY disorder of sex development, MONDO:0020040; ?Ovarian dysgenesis 8, OMIM:618187

17 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187 to 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187

15 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ESR2 was added gene: ESR2 was added to Disorders of sex development. Sources: Expert list Mode of inheritance for gene: ESR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ESR2 were set to 29261182; 9861029; 30113650 Phenotypes for gene: ESR2 were set to 46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187 Review for gene: ESR2 was set to AMBER