This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 209901
- Clinvar variants
- Variants in BBS1
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Severe early-onset obesity
- Retinal disorders
- DDG2P
- Structural eye disease
- Limb disorders
- Intellectual disability
- Fetal anomalies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Skeletal dysplasia
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal ciliopathies
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)BBS1 was added to Polydactyly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)BBS1 was created by Sarah Leigh