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Skeletal ciliopathies

Gene: BBS1

No list
BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Created: 28 Nov 2019, 3:25 p.m. | Last Modified: 28 Nov 2019, 3:25 p.m.
Panel Version: 0.24
Polydactyly/Brachydactyly phenotype
Created: 11 Jul 2019, 1:10 p.m. | Last Modified: 11 Jul 2019, 1:10 p.m.
Panel Version: 0.5
Created: 11 Jul 2019, 1:10 p.m.
Last Modified: 11 Jul 2019, 1:10 p.m.
Panel version: 0.5

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
268000

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:44 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).
Created: 4 Aug 2016, 3:45 p.m.
Created: 4 Aug 2016, 3:45 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.16

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: BBS1.

28 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bbs1 has been removed from the panel.

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: BBS1 was added gene: BBS1 was added to Skeletal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS1 were set to 23143442; 12118255 Phenotypes for gene: BBS1 were set to Bardet Biedl syndrome 13; 268000; Bardet Biedl syndrome 1; Bardet Biedl syndrome 11