Rare multisystem ciliopathy disorders
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
-
- Eligibility statement prior genetic testing
- Other
- Orphanet
- Expert Review Green
- Expert list
- Phenotypes
-
- 610189
- 611134
- 611755
- 610188
- Joubert syndrome 5
- Meckel syndrome 4
- Senior-Loken syndrome 6
- Joubert syndrome with oculorenal defect
- Meckel syndrome
- Senior-Loken syndrome
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- Complete
- 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
Upload gene information
Ellen McDonagh (Genomics England Curator)CEP290 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)CEP290 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)CEP290 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CEP290 were set to 610189; 611134; 611755; 610188; Joubert syndrome 5; Meckel syndrome 4;Senior-Loken syndrome 6
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CEP290 were set to 20690115; 18327255
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)CEP290 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CEP290 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list