ESR2

estrogen receptor 2
OMIM: 601663, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ESR2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • 46,XY Disorders of Sex Development
  • Ovarian dysgenesis 8, MIM# 618187

Amber ESR2 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • 46,XY disorder of sex development
  • Ovarian dysgenesis 8, MIM# 618187

Amber ESR2 in Primary Ovarian Insufficiency_Premature Ovarian Failure

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Ovarian dysgenesis 8 618187