Retinal disordersGene: BBS10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bardet-Biedl syndrome type 10 (BBS10)
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: Sourced from OMIM and G2P.
Created: 15 Mar 2016, 10:56 a.m.
Phenotypes for gene: BBS10 were changed from Eye Disorders; Bardet-Biedl syndrome 10 to Eye Disorders; Bardet-Biedl syndrome 10, 615987
Source NHS GMS was added to BBS10. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for BBS10 were set to Eye Disorders; Bardet-Biedl syndrome 10
Mode of inheritance for BBS10 was changed to BIALLELIC, autosomal or pseudoautosomal
BBS10 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
BBS10 was created by ellenmcdonagh