Unexplained young onset end-stage renal disease
Gene: CEP290
Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/Created: 11 Nov 2019, 11:25 p.m. | Last Modified: 11 Nov 2019, 11:25 p.m.
Panel Version: 0.110
Comment on mode of inheritance: Setting MOI to biallelic as per the Renal ciliopathies panelCreated: 25 Sep 2019, 12:25 p.m. | Last Modified: 25 Sep 2019, 12:25 p.m.
Panel Version: 0.43
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of AmberCreated: 9 Apr 2019, 11:17 a.m.
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.
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
Comment on list classification: Spectrum of syndromic forms.Created: 10 May 2016, 10:15 a.m.
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
Gene: cep290 has been classified as Green List (High Evidence).
Publications for gene: CEP290 were set to
Phenotypes for gene: CEP290 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 5 610188lLeber congenital amaurosis 10 611755
Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CEP290 was added gene: CEP290 was added to Unexplained paediatric onset end-stage renal disease. 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