Retinal disordersGene: CNGB3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achromatopsia-3; Macular degeneration, juvenile
Variants in this GENE are reported as part of current diagnostic practice
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:32 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, 8:04 a.m.
Source NHS GMS was added to CNGB3. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
CNGB3 was created by ellenmcdonagh
CNGB3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green