Skeletal dysplasia
Gene: BBS1EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 22 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.Created: 12 Dec 2019, 7:36 p.m. | Last Modified: 12 Dec 2019, 7:36 p.m.
Panel Version: 1.298
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Polydactyly
- Bardet-Biedl syndrome 1 OMIM:209900
- Bardet-Biedl syndrome 1 MONDO:0008854
- OMIM
- 209901
- Clinvar variants
- Variants in BBS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Renal ciliopathies
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal ciliopathies
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Ataxia and cerebellar anomalies - narrow panel
- Severe early-onset obesity
- Retinal disorders
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: BBS1 were changed from Polydactyly; Bardet-Biedl syndrome 1 209900 to Polydactyly; Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: bbs1 has been classified as Green List (High Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: BBS1 were changed from to Polydactyly; Bardet-Biedl syndrome 1 209900
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: BBS1 were set to
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Added New Source
Sarah Leigh (Genomics England Curator)BBS1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)BBS1 was created by sleigh