Structural eye disease
Gene: RGR

RGR (retinal G protein coupled receptor)
EnsemblGeneIds (GRCh38): ENSG00000148604
EnsemblGeneIds (GRCh37): ENSG00000148604
OMIM: 600342, Gene2Phenotype
RGR 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 44; 613769

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 44, 613769

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 44, 613769
Eye Disorders

OMIM

600342

Clinvar variants

Variants in RGR

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 RGR. Mode of inheritance for gene RGR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 44, 613769 for gene: RGR

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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

Structural eye disease Gene: RGR