Unexplained young onset end-stage renal disease
Gene: NEK8
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, 11:39 p.m. | Last Modified: 11 Nov 2019, 11:39 p.m.
Panel Version: 0.124
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Comment on list classification: Only 1 family. Await further evidence.Created: 10 May 2016, 10:48 a.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:02 p.m.
Rare, not a CAKUT gene pe se.Created: 18 Oct 2015, 8:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: nek8 has been classified as Green List (High Evidence).
gene: NEK8 was added gene: NEK8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK8 were set to Ciliopathy genes associated with cystic kidney disease; ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415