NR2E3

nuclear receptor subfamily 2 group E member 3
OMIM: 604485, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NR2E3 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 37 - MIM#611131
  • Enhanced S-cone syndrome - MIM#268100
  • Goldmann-Favre syndrome - MONDO#0100289
  • retinal dystrophy

Green NR2E3 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.147

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Enhanced S - cone syndrome (AR)
    • Retinitis pigmentosa 37 (AD and AR)

    Green NR2E3 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.57

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Enhanced S - cone syndrome (AR)
    • Retinitis pigmentosa 37 (AD and AR)

    Green NR2E3 in Vitreoretinopathy


    Level 2: Ophthalmological disoders
    Version 1.4

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Enhanced S-cone syndrome, MIM# 268100

    Red NR2E3 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Enhanced S-cone syndrome (MIM#268100)
    • Retinitis pigmentosa 37 (MIM#611131)