Bardet Biedl syndrome
Gene: BBS5EnsemblGeneIds (GRCh38): ENSG00000163093
EnsemblGeneIds (GRCh37): ENSG00000163093
OMIM: 603650, Gene2Phenotype
BBS5 is in 20 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 5 615983
Publications
- Li et al 2004 PMID: 15137946
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, 3:49 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Other
- Expert Review Green
- Phenotypes
-
- Bardet Biedl syndrome 5, 615983
- OMIM
- 603650
- Clinvar variants
- Variants in BBS5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BBS5 were changed from Bardet Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5, 615983 to Bardet Biedl syndrome 5, 615983
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BBS5. Added phenotypes Bardet-Biedl syndrome 5, 615983 for gene: BBS5 Publications for gene BBS5 were changed from to 15137946
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: BBS5 was added gene: BBS5 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to Bardet Biedl syndrome 5, 615983