Ataxia and cerebellar anomalies - narrow panel
Gene: BBS1
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in numerous unrelated cases.Created: 7 Apr 2021, 4:52 p.m. | Last Modified: 7 Apr 2021, 4:52 p.m.
Panel Version: 2.71
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 7 Apr 2021, 4:49 p.m. | Last Modified: 7 Apr 2021, 4:49 p.m.
Panel Version: 2.71
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ataxia is a common feature of the phenotype.
Sources: Expert listCreated: 12 Sep 2020, 2:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 1, MIM#209900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: BBS1.
Source Expert Review Green was added to BBS1. Source NHS GMS was added to BBS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: BBS1.
Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, MIM#209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Gene: bbs1 has been classified as Amber List (Moderate Evidence).
gene: BBS1 was added gene: BBS1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS1 were set to 15637713 Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, MIM#209900 Review for gene: BBS1 was set to GREEN gene: BBS1 was marked as current diagnostic