Retinal disordersGene: RP9
We have identified a missense change, identical to one reported by Keen et al, in a patient with RP in-house. Jin et al 2011reported a pathogenic effect for this change in vitro, but Maita et al 2004 showed that this variant had no effect on splicing and questioned its pathogenicity. Insufficient evidence to elevate to the green list with any confidence.
Created: 1 Jun 2016, 11:42 a.m.
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, 8:06 a.m.
Comment on list classification: A reclassified variant (to VUS), and a variant identified in one patient reported on OMIM.
Created: 23 Mar 2016, 10:15 a.m.
Source NHS GMS was added to RP9. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene RP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RP9 was created by ellenmcdonagh
RP9 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green