1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. ESR1
STRs in panel
Prev Next
Regions in panel
Prev Next

Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: ESR1

Green List (high evidence)
ESR1 (estrogen receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000091831
EnsemblGeneIds (GRCh37): ENSG00000091831
OMIM: 133430, Gene2Phenotype
ESR1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Presents with primary amenorrhoea. More than 3 unrelated families reported, mouse model.
Created: 13 Dec 2020, 10:29 p.m. | Last Modified: 13 Dec 2020, 10:29 p.m.
Panel Version: 0.174

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Estrogen resistance, MIM# 615363

Publications

Created: 13 Dec 2020, 10:29 p.m.
Last Modified: 13 Dec 2020, 10:29 p.m.
Panel version: 0.174

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Estrogen resistance, MIM# 615363
OMIM
133430
Clinvar variants
Variants in ESR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: esr1 has been classified as Green List (High Evidence).

13 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ESR1 were changed from to Estrogen resistance, MIM# 615363

13 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ESR1 were set to

13 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ESR1 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: ESR1 was added gene: ESR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ESR1 was set to