Limb disorders
Gene: CEP290EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service.Created: 25 Nov 2019, 10:26 p.m. | Last Modified: 25 Nov 2019, 10:26 p.m.
Panel Version: 1.109
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:44 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 11 Jul 2016, 12:58 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 14 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Bardet-Biedl syndrome 14, 615991
- Joubert syndrome 5, 610188
- Leber congenital amaurosis 10
- Meckel syndrome 4,611134
- Senior-Loken syndrome 6,610189
- Polydactyly
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cep290 has been classified as Red List (Low Evidence).
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cep290 has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cep290 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to CEP290. Rating Changed from Green List (high evidence) to No List (delete)
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to CEP290. Panel: Limb disorders Phenotypes for gene CEP290 were set to Bardet-Biedl syndrome 14, 615991, Joubert syndrome 5, 610188, Leber congenital amaurosis 10, Meckel syndrome 4,611134, Senior-Loken syndrome 6,610189, Polydactyly
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CEP290 were set to Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Leber congenital amaurosis 10; Meckel syndrome 4,611134; Senior-Loken syndrome 6,610189
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to CEP290. Panel: Limb disorders UKGTN was added to CEP290. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to CEP290. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to CEP290. Panel: Limb disorders Expert list was added to CEP290. Panel: Limb disorders Emory Genetics Laboratory was added to CEP290. Panel: Limb disorders Model of inheritance for gene CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to CEP290. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)CEP290 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)CEP290 was created by Ellen McDonagh