ESR1

estrogen receptor 1
OMIM: 133430, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ESR1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Estrogen resistance, MIM# 615363

Red ESR1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review Not set
Sources
  • Expert Review Green
  • Expert
  • Expert Review Red
  • Victorian Clinical Genetics Services

Green ESR1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.328

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Estrogen resistance, MIM# 615363