Retinal disordersGene: BBS7
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: Source: G2P and OMIM.
Created: 16 Mar 2016, 3:49 p.m.
Phenotypes for gene: BBS7 were changed from Eye Disorders to Eye Disorders; Bardet-Biedl syndrome 7, 615984
Source NHS GMS was added to BBS7. 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 BBS7 was changed to BIALLELIC, autosomal or pseudoautosomal
BBS7 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
BBS7 was created by ellenmcdonagh