Bardet-Biedl Syndrome
Gene: BBS10EnsemblGeneIds (GRCh38): ENSG00000179941
EnsemblGeneIds (GRCh37): ENSG00000179941
OMIM: 610148, Gene2Phenotype
BBS10 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 phenotypes: Bardet‐Biedl syndrome 10Created: 1 Feb 2016, 10:13 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Bardet‐Biedl syndrome 10
- OMIM
- 610148
- Clinvar variants
- Variants in BBS10
- Penetrance
- Complete
- Publications
-
- PMID: 16582908
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Severe early-onset obesity
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BBS10 were set to Bardet‐Biedl syndrome 10
Set publications
Ellen McDonagh (Genomics England Curator)Publications for BBS10 were set to PMID: 16582908
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)BBS10 was added to Bardet-Biedl Syndrome panel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()BBS10 was added to Bardet-Biedl Syndrome panel. Sources: UKGTN
Added New Source
GEL ()BBS10 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()BBS10 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()BBS10 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen