Structural eye disease
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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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 disease
Created: 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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

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

OMIM

604485

Clinvar variants

Variants in NR2E3

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NR2E3. Mode of inheritance for gene NR2E3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Enhanced S-cone syndrome, 268100; Retinitis pigmentosa 37, 611131 for gene: NR2E3

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NR2E3 was added gene: NR2E3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NR2E3 was set to Phenotypes for gene: NR2E3 were set to Eye Disorders

Structural eye disease Gene: NR2E3