Ophthalmological ciliopathies

Gene: CEP290

Green List (high evidence)

CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 26 panels

4 reviews

Penny Clouston (Oxford)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

Caroline Wright (Genomics England Curator)

Comment on list classification: Only 1 BBS patient published with a variant in this gene
Created: 17 Dec 2015, 1:33 p.m.

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

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

610189; 611134; 611755; 610188


History Filter Activity

8 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CEP290 was added gene: CEP290 was added to Ophthalmological 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