CAKUT
Gene: NEK8
NEK8 (NIMA related kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 13 panels
1 review
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
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
- OMIM
- 609799
- Clinvar variants
- Variants in NEK8
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Cystic kidney disease
History Filter Activity
22 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
22 Apr 2016, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NEK8 was changed to BIALLELIC, autosomal or pseudoautosomal
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NEK8 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen