ESR2

estrogen receptor 2
OMIM: 601663, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red ESR2 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.4

review Not set
Sources
  • Literature
Amber ESR2 in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • 46,XY disorder of sex development, MONDO:0020040
  • ?Ovarian dysgenesis 8, OMIM:618187
Tags
  • watchlist
Red ESR2 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert