Ophthalmological ciliopathies
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
2 reviews
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
-
- Eligibility statement prior genetic testing
- Expert list
- Expert Review Green
- Phenotypes
-
- Bardet Biedl syndrome 9
- OMIM
- 607968
- Clinvar variants
- Variants in BBS9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal dysplasia
- Renal ciliopathies
- Intellectual disability
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Cystic kidney disease
- DDG2P
- Skeletal ciliopathies
- Fetal anomalies
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Severe early-onset obesity
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Bardet Biedl syndrome
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
8 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: BBS9 was added gene: BBS9 was added to Ophthalmological ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS9 were set to 16380913 Phenotypes for gene: BBS9 were set to Bardet Biedl syndrome 9