Ocular coloboma
Gene: CEP290
CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels
3 reviews
Alice Gardham (Genomics England)
Comment on list classification: Expert recommendation to leave red as low frequency associationCreated: 18 Jan 2017, 11:37 a.m.
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)
Relevant phenotype and mode of inheritance was sourced from OMIM.Created: 8 Jan 2016, 11:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Other
- Phenotypes
-
- Joubert syndrome 5
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- Complete
- Panels with this gene
-
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Severe early-onset obesity
- Neurological ciliopathies
- Retinal disorders
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
6 Feb 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
18 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
1 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
1 Dec 2016, Gel status: 4
Upload gene information
Alice Gardham (Genomics England)CEP290 was added to Ocular colobomapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
1 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CEP290 was created by ellenmcdonagh
1 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CEP290 was added to Ocular colobomapanel. Sources: Other