Vitreoretinopathy
Gene: NR2E3
NR2E3 (nuclear receptor subfamily 2 group E member 3)
EnsemblGeneIds (GRCh38): ENSG00000278570
EnsemblGeneIds (GRCh37): ENSG00000031544
OMIM: 604485, Gene2Phenotype
NR2E3 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000278570
EnsemblGeneIds (GRCh37): ENSG00000031544
OMIM: 604485, Gene2Phenotype
NR2E3 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
ESCS is an autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. People with ESCS also suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.
More than 5 unrelated families reported.Created: 16 Jan 2021, 9:17 a.m. | Last Modified: 16 Jan 2021, 9:17 a.m.
Panel Version: 0.28
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enhanced S-cone syndrome 268100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Enhanced S-cone syndrome, MIM# 268100
- OMIM
- 604485
- Clinvar variants
- Variants in NR2E3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 Jan 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nr2e3 has been classified as Green List (High Evidence).
16 Jan 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NR2E3 were changed from to Enhanced S-cone syndrome, MIM# 268100
16 Jan 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NR2E3 were set to
16 Jan 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NR2E3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
4 Mar 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)gene: NR2E3 was added gene: NR2E3 was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NR2E3 was set to Unknown