Severe early-onset obesity
Gene: CEP290EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels
2 reviews
Ivone Leong (Genomics England Curator)
CEP290 is associated with a phenotype on OMIM and Gene2Phenotype. PMID: 18327255 reported on the only case of variants in CEP290 associated with Bardet-Biedl syndrome in a consanguineous Saudi family. The affected individuals were obese. However, the family also had a variant in MKS3 (TMEM67) gene. PMID: 23943788 reported on a Cep290 knockin mouse model, which did not show any signs of obesity; however, when this was crossed with Bbs4 knockout mice the resultant progeny were severely obese.Created: 15 Aug 2019, 2:02 p.m. | Last Modified: 15 Aug 2019, 2:02 p.m.
Panel Version: 1.22
Publications
Ismaa Farooqi (University of Cambridge)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Congenital Obesity
- ?Bardet-Biedl syndrome 14, OMIM:615991
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ductal plate malformation
- Neurological 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
- VACTERL-like phenotypes
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Severe early-onset obesity
- Familial Neural Tube Defects
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991 to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
Added New Source, Added New Source, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert list was added to CEP290. Source Expert Review Amber was added to CEP290. Publications for gene CEP290 were changed from to 23943788; 18327255 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CEP290 were changed from Congenital Obesity to Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)CEP290 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory