Retinal disordersGene: BBS4
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, 3:47 p.m.
Phenotypes for gene: BBS4 were changed from Eye Disorders; Bardet-Biedl syndrome 4 to Eye Disorders; Bardet-Biedl syndrome 4, 615982
Source NHS GMS was added to BBS4. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for BBS4 were set to Eye Disorders; Bardet-Biedl syndrome 4
Mode of inheritance for BBS4 was changed to BIALLELIC, autosomal or pseudoautosomal
BBS4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
BBS4 was created by ellenmcdonagh