Retinal disorders
Gene: RGR
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
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
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 diseaseCreated: 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 variantsCreated: 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 44
Variants in this GENE are reported as part of current diagnostic practice
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.
Tag Q3_22_rating was removed from gene: RGR. Tag Q3_22_NHS_review was removed from gene: RGR.
Source Expert Review Green was added to RGR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_22_rating tag was added to gene: RGR. Tag Q3_22_NHS_review tag was added to gene: RGR.
Mode of inheritance for gene: RGR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RGR were changed from Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa; Retinitis pigmentosa 44, 613769 to Retinitis pigmentosa 44, OMIM:613769; Retinitis pigmentosa 44, MONDO:0013414
Source Expert Review Amber was added to RGR. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source NHS GMS was added to RGR. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene RGR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
RGR was created by ellenmcdonagh
RGR was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green