Bardet Biedl syndrome
Gene: BBS4EnsemblGeneIds (GRCh38): ENSG00000140463
EnsemblGeneIds (GRCh37): ENSG00000140463
OMIM: 600374, Gene2Phenotype
BBS4 is in 21 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 4 615982
Publications
- Mykytyn et al 2001 PMID: 11381270
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
-
- NHS GMS
- Other
- Expert Review Green
- Phenotypes
-
- Bardet-Biedl syndrome 4, 615982
- OMIM
- 600374
- Clinvar variants
- Variants in BBS4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Severe early-onset obesity
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, 615982; Bardet Biedl syndrome 4, 615982 to Bardet-Biedl syndrome 4, 615982
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BBS4. Added phenotypes Bardet-Biedl syndrome 4, 615982 for gene: BBS4 Publications for gene BBS4 were changed from to 11381270
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: BBS4 was added gene: BBS4 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to Bardet Biedl syndrome 4, 615982