Retinal disordersGene: BBS1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bardet-Biedl syndrome type 1 (BBS1)
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, 8:03 a.m.
Comment on mode of inheritance: Confirmed on OMIM biallelic. Variants within other genes may also contribute in a digenic mechanism.
Created: 15 Mar 2016, 10:55 a.m.
Phenotypes for gene: BBS1 were changed from Eye Disorders; Retinitis pigmentosa; Bardet-Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Phenotypes for gene: BBS1 were changed from Eye Disorders; Retinitis pigmentosa to Eye Disorders; Retinitis pigmentosa; Bardet-Biedl syndrome 1, 209900
Source NHS GMS was added to BBS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for BBS1 were set to Eye Disorders; Retinitis pigmentosa
Mode of inheritance for BBS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
BBS1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
BBS1 was created by ellenmcdonagh