Tubulointerstitial kidney disease
Gene: NEK8

NEK8 (NIMA related kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000160602
EnsemblGeneIds (GRCh37): ENSG00000160602
OMIM: 609799, Gene2Phenotype
NEK8 is in 13 panels

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:NEK8;Suggested initial gene rating: Red;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Nephronopthisis 9 MIM 613824

Created: 2 Feb 2019, 12:48 a.m.

Panel version: 0.3

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
NHS GMS

Phenotypes

?Nephronopthisis 9 MIM 613824

OMIM

609799

Clinvar variants

Variants in NEK8

Penetrance

None

Panels with this gene

History Filter Activity

2 Feb 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: NEK8 was added gene: NEK8 was added to Tubulointerstitial kidney disease. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NEK8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NEK8 were set to ?Nephronopthisis 9 MIM 613824

Tubulointerstitial kidney disease Gene: NEK8