Retinal disorders
Gene: RGR

RGR (retinal G protein coupled receptor)
EnsemblGeneIds (GRCh38): ENSG00000148604
EnsemblGeneIds (GRCh37): ENSG00000148604
OMIM: 600342, Gene2Phenotype
RGR is in 3 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 2:08 p.m. | Last Modified: 30 Jan 2023, 2:08 p.m.

Panel Version: 3.26

Created: 30 Jan 2023, 2:08 p.m.
Last Modified: 30 Jan 2023, 2:08 p.m.
Panel version: 3.26

Ivone Leong (Genomics England Curator)

I don't know

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on expert review from Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) this gene should be promoted from Amber to Green.
Created: 28 Jul 2022, 3:09 p.m. | Last Modified: 28 Jul 2022, 3:09 p.m.

Panel Version: 2.284

Comment on mode of inheritance: MOI has been changed from "Both" to "Monoallelic" only based on expert review.
Created: 28 Jul 2022, 3:09 p.m. | Last Modified: 28 Jul 2022, 3:09 p.m.

Panel Version: 2.284

This gene has been demoted based on expert review from Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) .
Created: 30 Aug 2019, 2:52 p.m. | Last Modified: 30 Aug 2019, 2:52 p.m.

Panel Version: 1.160

Created: 30 Aug 2019, 2:52 p.m.
Last Modified: 30 Aug 2019, 2:52 p.m.
Panel version: 2.284

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

The evidence for dominant disease is sufficient I think, the late frameshift is seen in several families now. There is no current data to support recessive disease
Created: 14 Jul 2022, 10:22 a.m. | Last Modified: 14 Jul 2022, 10:22 a.m.

Panel Version: 2.276

Only associated with ad choriortinopathy due to late frameshift - no association with recessive disease or heterozygous LOF variants
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 2.276

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 44

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2017, 4:30 p.m.

Panel version: 1.14

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.

Created: 2 Jun 2016, 8:05 a.m.

Panel version: 0.201

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS GMS

Phenotypes

Retinitis pigmentosa 44, OMIM:613769
Retinitis pigmentosa 44, MONDO:0013414

OMIM

600342

Clinvar variants

Variants in RGR

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: RGR. Tag Q3_22_NHS_review was removed from gene: RGR.

30 Jan 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to RGR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Jul 2022, Gel status: 2