Renal ciliopathies
Gene: CEP290EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels
4 reviews
Penny Clouston (Oxford)
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 geneCreated: 17 Dec 2015, 1:33 p.m.
Beth Hoskins (Great Ormond Street Hospital)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Orphanet
- Eligibility statement prior genetic testing
- Expert list
- Expert Review Green
- Other
- Phenotypes
-
- 610189
- Meckel syndrome 4
- Senior-Loken syndrome
- 611755
- Joubert syndrome 5
- Joubert syndrome with oculorenal defect
- 610188
- Senior-Loken syndrome 6
- 611134
- Meckel syndrome
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Severe early-onset obesity
- Familial Neural Tube Defects
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)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