Renal and urinary tract disorders
Gene: CEP290EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: As there are now 2 green reviews for this gene, this gene was re-reviewed by the Genomics England Clinical Team. Feedback from Helen Brittain: "The evidence to date is associated with syndromic (ciliopathy spectrum) presentation. I would be inclined to leave it at present as I can't find evidence of a primary or isolated renal presentation."Created: 18 Dec 2017, 12:15 p.m.
John Sayer (Newcastle University)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
nephronophthisis; cystic kidney disease; joubert syndrome; leber's congenital amaurosis; molar tooth sign, nystagmus, Cogan's motor apraxia
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Spectrum of syndromic forms.Created: 10 May 2016, 10:15 a.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 11:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathies
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Expert Review Amber
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Bardet Biedl syndrome
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- 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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: CEP290
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CEP290 was added gene: CEP290 was added to Renal and urinary tract disorders. Sources: Expert Review Amber Mode of inheritance for gene: CEP290 was set to Unknown Phenotypes for gene: CEP290 were set to Ciliopathy genes associated with cystic kidney disease