Retinal disorders
Gene: NR2E3
NR2E3 (nuclear receptor subfamily 2 group E member 3)
EnsemblGeneIds (GRCh38): ENSG00000278570
EnsemblGeneIds (GRCh37): ENSG00000031544
OMIM: 604485, Gene2Phenotype
NR2E3 is in 3 panels
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)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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.
Details
- Mode of Inheritance
- 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
- OMIM
- 604485
- Clinvar variants
- Variants in NR2E3
- Penetrance
- Complete
- 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
Created
Ellen McDonagh (Genomics England Curator)NR2E3 was created by ellenmcdonagh