Retinal disordersGene: RAX2
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.
Comment on mode of inheritance: For Cone-rod dystrophy 11.
Created: 22 Mar 2016, 2:13 p.m.
Source NHS GMS was added to RAX2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for RAX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RAX2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RAX2 was created by ellenmcdonagh