Cystic kidney disease
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
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
CEP290 was added to Cystic kidney diseasepanel. Sources: Expert