Bardet Biedl syndrome
Gene: BBS10EnsemblGeneIds (GRCh38): ENSG00000179941
EnsemblGeneIds (GRCh37): ENSG00000179941
OMIM: 610148, Gene2Phenotype
BBS10 is in 20 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 10 615987
Publications
- Stoetzel et 2006 PMID: 16582908
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, 3:46 p.m.
Comment on phenotypes: Bardet‐Biedl syndrome 10Created: 1 Feb 2016, 10:13 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Other
- Expert Review Green
- Phenotypes
-
- Bardet Biedl syndrome 10, 615987
- OMIM
- 610148
- Clinvar variants
- Variants in BBS10
- 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
- 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: BBS10 were changed from Bardet Biedl syndrome 10, 615987; Bardet-Biedl syndrome 10, 615987 to Bardet Biedl syndrome 10, 615987
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BBS10. Added phenotypes Bardet-Biedl syndrome 10, 615987 for gene: BBS10 Publications for gene BBS10 were changed from to 16582908
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: BBS10 was added gene: BBS10 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10, 615987