Retinal disordersGene: IMPG2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maculopathy, IMPG2-related; Retinitis pigmentosa 56
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, 8:04 a.m.
Comment on mode of inheritance: Monoallelic for Macular dystrophy, vitelliform, 5, biallelic for Retinitis pigmentosa 56 (source: OMIM).
Created: 22 Mar 2016, 1:01 p.m.
Source NHS GMS was added to IMPG2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for IMPG2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IMPG2 was created by ellenmcdonagh
IMPG2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green