Renal ciliopathiesGene: CEP290
Positives within our diagnostic patient cohort. Evidence in literature.
Created: 15 Mar 2016, 10:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: On the combined rare multisystem ciliopathy disorders panel this gene should be green; multiple case/family reports in OMIM and different variants reported for Joubert syndrome 5, Meckel syndrome 4 and Senior-Loken syndrome 6.
Created: 27 Aug 2016, 10:13 a.m.
Relevant phenotype and mode of inheritance was sourced from OMIM.
Created: 8 Jan 2016, 11:36 a.m.
Comment on list classification: Only 1 BBS patient published with a variant in this gene
Created: 17 Dec 2015, 1:33 p.m.
gene: CEP290 was added gene: CEP290 was added to Renal ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing,Orphanet Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP290 were set to 20690115; 18327255 Phenotypes for gene: CEP290 were set to 610189; Meckel syndrome 4; Senior-Loken syndrome; 611755; Joubert syndrome 5; Joubert syndrome with oculorenal defect; 610188; Senior-Loken syndrome 6; 611134; Meckel syndrome