Renal and urinary tract disorders
Gene: NEK8EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 13 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Only 1 family. Await further evidence.Created: 10 May 2016, 10:48 a.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:02 p.m.
Helen Stuart (University of Manchester)
Rare, not a CAKUT gene pe se.Created: 18 Oct 2015, 8:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
- OMIM
- 609799
- Clinvar variants
- Variants in NEK8
- Penetrance
- None
- Panels with this gene
-
- CAKUT
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Stuart: Rare, not a CAKUT gene pe se.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: NEK8
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease; ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 for gene: NEK8
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NEK8 was added gene: NEK8 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK8 were set to ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415