Multiple Tumours
Gene: ESR1

ESR1 (estrogen receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000091831
EnsemblGeneIds (GRCh37): ENSG00000091831
OMIM: 133430, Gene2Phenotype
ESR1 is in 6 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red on the Familial Breast cancer panel version 1.2.
Created: 3 May 2017, 12:11 p.m.

Mode of inheritance
Unknown

Phenotypes
Estrogen resistance, 615363; {HDL response to hormone replacement, augmented}; {Migraine, susceptibility to}, 157300; {Atherosclerosis, susceptibility to}; {Myocardial infarction, susceptibility to}, 608446; {Breast cancer}, 114480

Created: 3 May 2017, 12:11 p.m.

Panel version: 1.73

Details

Mode of Inheritance

Unknown

Sources

Other

Phenotypes

Estrogen resistance, 615363
{HDL response to hormone replacement, augmented}
{Migraine, susceptibility to}, 157300
{Atherosclerosis, susceptibility to}
{Myocardial infarction, susceptibility to}, 608446
{Breast cancer}, 114480

OMIM

133430

Clinvar variants

Variants in ESR1

Penetrance

Complete

Panels with this gene

History Filter Activity

3 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ESR1 was created by ellenmcdonagh

3 May 2017, Gel status: 0

Added New Source