Unexplained kidney failure in young people
Gene: BBS2
BBS2 (Bardet-Biedl syndrome 2)
EnsemblGeneIds (GRCh38): ENSG00000125124
EnsemblGeneIds (GRCh37): ENSG00000125124
OMIM: 606151, Gene2Phenotype
BBS2 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000125124
EnsemblGeneIds (GRCh37): ENSG00000125124
OMIM: 606151, Gene2Phenotype
BBS2 is in 20 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 606151
- Clinvar variants
- Variants in BBS2
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Limb disorders
- Severe early-onset obesity
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- 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
- Structural eye disease
- Skeletal ciliopathies
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)BBS2 was created by sleigh
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)BBS2 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red