Renal and urinary tract disorders
Gene: CEP290Comment 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
Miranda Durkie: No current test experience but
Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: CEP290
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