Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: NR2E3

Green List (high evidence)

NR2E3 (nuclear receptor subfamily 2 group E member 3)
EnsemblGeneIds (GRCh38): ENSG00000278570
EnsemblGeneIds (GRCh37): ENSG00000031544
OMIM: 604485, Gene2Phenotype
NR2E3 is in 3 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Enhanced S-cone syndrome; Retinitis pigmentosa 37

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
UKGTN source: Enhanced S-cone syndrome (autosomal recessive); Retinitis pigmentosa 37 (autosomal recessive and autosomal dominant).
Created: 26 Apr 2016, 12:43 p.m.


Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Expert Review Green
  • Enhanced S - cone syndrome (AR)
  • Retinitis pigmentosa 37 (AD and AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Enhanced S-cone syndrome, 268100
Clinvar variants
Variants in NR2E3
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NR2E3. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

NR2E3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

NR2E3 was created by ellenmcdonagh