Retinal disordersGene: RGR
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
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
BIALLELIC, autosomal or pseudoautosomal
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.
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 added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RGR was created by ellenmcdonagh