Bardet-Biedl Syndrome
Gene: CEP290EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment on list classification: Only 1 BBS patient published with a variant in this geneCreated: 17 Dec 2015, 1:33 p.m.
Beth Hoskins (Great Ormond Street Hospital)
Mutations in this gene more commonly cause other ciliopathies, only a single case of a mutation in a BBS patient reported.Created: 14 Oct 2015, 12:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
610189; 611134; 611755; 610188
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Bardet‐Biedl syndrome 14
- 610189
- 611134
- 611755
- 610188
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Retinal disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Neurological ciliopathies
- Limb disorders
- Intellectual disability
- Ocular coloboma
- Familial Neural Tube Defects
- Renal ciliopathies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Severe early-onset obesity
- Fetal anomalies
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Bardet Biedl syndrome
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CEP290 were set to Bardet‐Biedl syndrome 14; 610189; 611134; 611755; 610188
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CEP290 were set to PMID: 20690115; 18327255
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()CEP290 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()CEP290 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()CEP290 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services