Unexplained kidney failure in young people
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Expert
- 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
- 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
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
18 May 2016, Gel status: 1
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)NEK8 was added to Unexplained kidney failure in young peoplepanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)NEK8 was created by sleigh
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)NEK8 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red