Unexplained kidney failure in young people
Gene: BBS5
BBS5 (Bardet-Biedl syndrome 5)
EnsemblGeneIds (GRCh38): ENSG00000163093
EnsemblGeneIds (GRCh37): ENSG00000163093
OMIM: 603650, Gene2Phenotype
BBS5 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000163093
EnsemblGeneIds (GRCh37): ENSG00000163093
OMIM: 603650, Gene2Phenotype
BBS5 is in 20 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 603650
- Clinvar variants
- Variants in BBS5
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Glaucoma (developmental)
- Bardet Biedl syndrome
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal ciliopathies
- Structural eye disease
- Limb disorders
- Ophthalmological ciliopathies
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Fetal anomalies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
History Filter Activity
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)BBS5 was created by sleigh
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)BBS5 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red