Retinal disordersGene: PEX7
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 PEX7. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for PEX7 were set to Eye Disorders; Refsum disease
Mode of inheritance for PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal
PEX7 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
PEX7 was created by ellenmcdonagh