Severe early-onset obesity
Gene: CEP290
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
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991 to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
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)
Phenotypes for gene: CEP290 were changed from Congenital Obesity to Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991
Mode of inheritance for gene: CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
CEP290 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory