Retinal disordersGene: BBS2
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, 3:46 p.m.
Phenotypes for gene: BBS2 were changed from Eye Disorders; Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 to Eye Disorders; Bardet-Biedl syndrome 2, 615981; Retinitis pigmentosa 74, 616562
Source NHS GMS was added to BBS2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for BBS2 were set to Eye Disorders; Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
Mode of inheritance for BBS2 was changed to BIALLELIC, autosomal or pseudoautosomal
BBS2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
BBS2 was created by ellenmcdonagh