Bardet Biedl syndrome
Gene: BBS9EnsemblGeneIds (GRCh38): ENSG00000122507
EnsemblGeneIds (GRCh37): ENSG00000122507
OMIM: 607968, Gene2Phenotype
BBS9 is in 21 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 9 615986
Publications
- Nishimura et al 2001 PMID: 16380913
Beth Hoskins (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).Created: 4 Aug 2016, 3:51 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Other
- Expert Review Green
- Phenotypes
-
- Bardet Biedl syndrome 9, 615986
- OMIM
- 607968
- Clinvar variants
- Variants in BBS9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Skeletal dysplasia
- Structural eye disease
- Severe early-onset obesity
- Intellectual disability
- Ductal plate malformation
- Bardet Biedl syndrome
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BBS9 were changed from Bardet Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9, 615986 to Bardet Biedl syndrome 9, 615986
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BBS9. Added phenotypes Bardet-Biedl syndrome 9, 615986 for gene: BBS9 Publications for gene BBS9 were changed from to 16380913
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: BBS9 was added gene: BBS9 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to Bardet Biedl syndrome 9, 615986