Retinal disordersGene: RPGR
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cone-rod dystrophy, X-linked, 1; Macular degeneration, X-linked atrophic; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Variants in this GENE are reported as part of current diagnostic practice
Added the tag ‘gene-therapy-trial’ as this gene-disease is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:53 a.m.
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 NHS GMS was added to RPGR. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
RPGR was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RPGR was created by ellenmcdonagh