This Panel is marked as Internal
Joubert syndrome
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
2 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)
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
-
- Other
- Eligibility statement prior genetic testing
- Phenotypes
-
- Joubert syndrome 5
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- Complete
- Panels with this gene
-
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- VACTERL-like phenotypes
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Limb disorders
- Severe early-onset obesity
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Familial Neural Tube Defects
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
History Filter Activity
8 Jan 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CEP290 were set to Joubert syndrome 5
8 Jan 2016, Gel status: 0
Upload gene information
Ellen McDonagh (Genomics England Curator)CEP290 was added to Joubert syndromepanel. Sources: Other
8 Jan 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CEP290 were set to Joubert syndrome 5
8 Jan 2016, Gel status: 0
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
7 Jan 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CEP290 was created by ellenmcdonagh
7 Jan 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CEP290 was added to Joubert syndromepanel. Sources: Eligibility statement prior genetic testing