Cystic kidney disease
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 Thomas (Genomics England Curator)
Comment on list classification: BBS gene - not including syndromic genes on this panel.Created: 10 May 2016, 10:04 a.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 10:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome type 1
Publications
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 209901
- Clinvar variants
- Variants in BBS1
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Renal ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Intellectual disability
- Limb disorders
- Ataxia and cerebellar anomalies - childhood onset
- Retinal disorders
- Skeletal ciliopathies
- Skeletal dysplasia
- Unexplained kidney failure in young people
- Ductal plate malformation
- Severe early-onset obesity
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Bardet Biedl syndrome
- DDG2P
- Glaucoma (developmental)
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BBS1 was added to Cystic kidney diseasepanel. Sources: Expert