NR2E3

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red NR2E3 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green NR2E3 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Enhanced S - cone syndrome (AR)
  • Retinitis pigmentosa 37 (AD and AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Enhanced S-cone syndrome, 268100
Red NR2E3 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 37, 611131
  • Enhanced S-cone syndrome, 268100
  • Eye Disorders