Rare multisystem ciliopathy disorders
Gene: 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 geneCreated: 17 Dec 2015, 1:33 p.m.
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
CEP290 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
Promoted to version 1 by Alice Gardham on 26th January 2017
CEP290 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
CEP290 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
This gene has been classified as Green List (High Evidence).
Phenotypes for CEP290 were set to 610189; 611134; 611755; 610188; Joubert syndrome 5; Meckel syndrome 4;Senior-Loken syndrome 6
Publications for CEP290 were set to 20690115; 18327255
This gene has been classified as Green List (High Evidence).
CEP290 was created by ellenmcdonagh
CEP290 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list