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Retinal disorders

Gene: RGR

Amber List (moderate evidence)

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

4 reviews

Ivone Leong (Genomics England Curator)

I don't know

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

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

I don't know

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

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

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
  • Retinitis pigmentosa 44, 613769
OMIM
600342
Clinvar variants
Variants in RGR
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Aug 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RGR. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RGR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RGR was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RGR was created by ellenmcdonagh