Rare multisystem ciliopathy disorders
Gene: BBS4EnsemblGeneIds (GRCh38): ENSG00000140463
EnsemblGeneIds (GRCh37): ENSG00000140463
OMIM: 600374, Gene2Phenotype
BBS4 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)
Variants have been found in combination with variants in other BBS genes, however also found independently (PMID: 22353939).Created: 12 Dec 2016, 12:47 p.m.
Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).Created: 4 Aug 2016, 3:48 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 4
- Tags
- OMIM
- 600374
- Clinvar variants
- Variants in BBS4
- Penetrance
- Complete
- 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
- Monogenic hearing loss
- 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
Upload gene information
Ellen McDonagh (Genomics England Curator)BBS4 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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BBS4 were set to 11381270;22353939
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 BBS4 were set to Bardet‐Biedl syndrome 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BBS4 were set to 11381270
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)BBS4 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)BBS4 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list