Limb disorders
Gene: CEP290Comment on list classification: Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service.Created: 25 Nov 2019, 10:26 p.m. | Last Modified: 25 Nov 2019, 10:26 p.m.
Panel Version: 1.109
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:44 p.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 11 Jul 2016, 12:58 p.m.
Tier 2Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 14 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189
Variants in this GENE are reported as part of current diagnostic practice
Gene: cep290 has been classified as Red List (Low Evidence).
Ana Beleza: Tier 2
Gene: cep290 has been removed from the panel.
Gene: cep290 has been removed from the panel.
Source Expert Review Removed was added to CEP290. Rating Changed from Green List (high evidence) to No List (delete)
Victorian Clinical Genetics Services was added to CEP290. Panel: Limb disorders Phenotypes for gene CEP290 were set to Bardet-Biedl syndrome 14, 615991, Joubert syndrome 5, 610188, Leber congenital amaurosis 10, Meckel syndrome 4,611134, Senior-Loken syndrome 6,610189, Polydactyly
Phenotypes for CEP290 were set to Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Leber congenital amaurosis 10; Meckel syndrome 4,611134; Senior-Loken syndrome 6,610189
Expert Review Green was added to CEP290. Panel: Limb disorders UKGTN was added to CEP290. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to CEP290. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to CEP290. Panel: Limb disorders Expert list was added to CEP290. Panel: Limb disorders Emory Genetics Laboratory was added to CEP290. Panel: Limb disorders Model of inheritance for gene CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to CEP290. Panel: Limb disorders
CEP290 was added to Limb disorders panel. Sources: Viapath
CEP290 was created by Ellen McDonagh