Cystic kidney disease
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
- Sources
-
- Expert Review Amber
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 610142
- Clinvar variants
- Variants in CEP290
- Penetrance
- Complete
- Panels with this gene
-
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- 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
- Fetal anomalies
- Ocular coloboma
- Severe early-onset obesity
- Familial Neural Tube Defects
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CEP290 was added to Cystic kidney diseasepanel. Sources: Expert