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  3. ESR2
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Differences 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 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

A further individual reported with 46,XX karyotype and ovarian dysgenesis.
Created: 15 Jul 2020, 7:30 a.m. | Last Modified: 15 Jul 2020, 7:30 a.m.
Panel Version: 0.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ovarian dysgenesis 8, MIM# 618187

Publications

Created: 15 Jul 2020, 7:30 a.m.
Last Modified: 15 Jul 2020, 7:30 a.m.
Panel version: 0.97

Bryony Thompson (Royal Melbourne Hospital)

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.
Sources: Literature
Created: 26 Jun 2020, 6:18 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
46,XY Disorders of Sex Development

Publications

Created: 26 Jun 2020, 6:18 a.m.

Panel version: 0.31

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • 46,XY Disorders of Sex Development
  • Ovarian dysgenesis 8, MIM# 618187
OMIM
601663
Clinvar variants
Variants in ESR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ESR2 were changed from 46,XY Disorders of Sex Development to 46,XY Disorders of Sex Development; Ovarian dysgenesis 8, MIM# 618187

15 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ESR2 were set to 29261182; 9861029

15 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ESR2 was added gene: ESR2 was added to Disorders of Sex Differentiation. Sources: Literature 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 Phenotypes for gene: ESR2 were set to 46,XY Disorders of Sex Development Review for gene: ESR2 was set to AMBER