Skeletal dysplasia
Gene: ESR1

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)

Estrogen resistance (ESTRR) is characterised by absence of puberty with elevated oestradiol and gonadotropic hormones, as well as markedly delayed bone maturation. Females show absent breast development, small uterus, and enlarged multicystic ovaries; males may show small testes. Some exhibit continued growth into adulthood . More than 3 unrelated families reported, mouse model.
Created: 13 Dec 2020, 10:32 p.m. | Last Modified: 13 Dec 2020, 10:32 p.m.

Panel Version: 0.5653

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Estrogen resistance, MIM# 615363

Publications

Created: 13 Dec 2020, 10:32 p.m.
Last Modified: 13 Dec 2020, 10:32 p.m.
Panel version: Imported from Mendeliome panel version 0.5653

Details

Sources

Expert Review Green
Expert
Expert Review Red
Victorian Clinical Genetics Services

OMIM

133430

Clinvar variants

Variants in ESR1

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ESR1 was added gene: ESR1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert Mode of inheritance for gene: ESR1 was set to

Skeletal dysplasia Gene: ESR1