Unexplained kidney failure in young people
Gene: BBS9
BBS9 (Bardet-Biedl syndrome 9)
EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 21 panels
0 reviews
Details
- Sources
-
- Expert
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 607968
- Clinvar variants
- Variants in BBS9
- Penetrance
- Complete
- Panels with this gene
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- Structural eye disease
- Limb disorders
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Intellectual disability
- Unexplained kidney failure in young people
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Ductal plate malformation
- Renal ciliopathies
- DDG2P
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Fetal anomalies
- Retinal disorders
- Glaucoma (developmental)
- Bardet Biedl syndrome
- Thoracic dystrophies
- Primary ciliary disorders
- 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)BBS9 was created by sleigh
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)BBS9 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red