Renal ciliopathies

Gene: NEK8

Green List (high evidence)

NEK8 (NIMA related kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 15 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: added Publications suggested by external reviewers to support gene-disease association and rating of this gene to Green.
Created: 1 Oct 2018, 1:49 p.m.
Comment on list classification: Changed status from Red to Green. Publications suggested by external reviews support gene-disease association and rating of this gene to Green
Created: 1 Oct 2018, 1:47 p.m.

Penny Clouston (Oxford)

Green List (high evidence)

To date 9 cases described in 5 reports in the literature. Many predicted to disrupt the RCC1 domain; mouse model with variant in this domain.
Created: 17 Sep 2018, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note 5 additional cases in this publication.
Created: 7 Aug 2018, 4:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Alice Gardham (Genomics England)

Red List (low evidence)

Mutations only identified in one case of nephronophthisis and in one set of siblings with renal-hepatic dyplasia
Created: 19 Jan 2017, 3:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Nephronophthisis 9 613824; ?Renal-hepatic-pancreatic dysplasia 2 615415

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Renal-hepatic-pancreatic dysplasia
  • ?Renal-hepatic-pancreatic dysplasia 2, 615415
  • Nephronophthisis
  • ?Nephronophthisis 9, 613824
OMIM
609799
Clinvar variants
Variants in NEK8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: NEK8 was added gene: NEK8 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 18199800; 26967905; 26862157; 26697755; 23418306 Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia; ?Renal-hepatic-pancreatic dysplasia 2, 615415; Nephronophthisis; ?Nephronophthisis 9, 613824