Rare multisystem ciliopathy disorders
Gene: BBS1
BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 panels
2 reviews
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- Expert list
- Phenotypes
-
- Bardet‐Biedl syndrome 1
- Bardet‐Biedl syndrome 13
- Bardet‐Biedl syndrome 11
- 268000
- OMIM
- 209901
- Clinvar variants
- Variants in BBS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Limb disorders
- Severe early-onset obesity
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- Skeletal ciliopathies
History Filter Activity
17 Feb 2017, Gel status: 4
Upload gene information
Ellen McDonagh (Genomics England Curator)BBS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
26 Jan 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
4 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Aug 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BBS1 were set to Bardet‐Biedl syndrome 1; Bardet‐Biedl syndrome 13; Bardet‐Biedl syndrome 11; 268000
4 Aug 2016, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BBS1 were set to 12118255; 23143442
4 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BBS1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BBS1 was created by ellenmcdonagh