Rare multisystem ciliopathy disorders
Gene: BBS5EnsemblGeneIds (GRCh38): ENSG00000163093
EnsemblGeneIds (GRCh37): ENSG00000163093
OMIM: 603650, Gene2Phenotype
BBS5 is in 20 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, 3:49 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- Expert list
- Phenotypes
-
- Bardet‐Biedl syndrome 5
- OMIM
- 603650
- Clinvar variants
- Variants in BBS5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal ciliopathies
- Ophthalmological ciliopathies
- Intellectual disability
- Cystic kidney disease
- Structural eye disease
- Renal ciliopathies
- Fetal anomalies
- Severe early-onset obesity
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Ductal plate malformation
- Limb disorders
- DDG2P
- Retinal disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Upload gene information
Ellen McDonagh (Genomics England Curator)BBS5 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BBS5 were set to Bardet‐Biedl syndrome 5
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BBS5 were set to 15137946
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)BBS5 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)BBS5 was created by ellenmcdonagh