Retinal disordersGene: BBS12
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.
Phenotypes for gene: BBS12 were changed from Eye Disorders; Bardet-Biedl syndrome 12 to Eye Disorders; Bardet-Biedl syndrome 12, 615989
Source NHS GMS was added to BBS12. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for BBS12 were set to Eye Disorders; Bardet-Biedl syndrome 12
Mode of inheritance for BBS12 was changed to BIALLELIC, autosomal or pseudoautosomal
BBS12 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
BBS12 was created by ellenmcdonagh