Glaucoma (developmental)
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
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 37; Enhanced S-cone syndrome; 611131; 268100
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 37, 611131; Enhanced S-cone syndrome, 268100
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 604485
- Clinvar variants
- Variants in NR2E3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)NR2E3 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory