ESR2

estrogen receptor 2
OMIM: 601663, Gene2Phenotype

4 panels

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

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Red ESR2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber ESR2 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert