Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: BBS1

Amber List (moderate evidence)

BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 24 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ataxia is a common feature of the phenotype.
Sources: Expert list
Created: 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

History Filter Activity

7 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: BBS1.

7 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

7 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: bbs1 has been classified as Amber List (Moderate Evidence).

12 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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