Genes in panel

Neurodegenerative disorders - adult onset

Gene: NEK1

Amber List (moderate evidence)

NEK1 (NIMA related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Significant number of individuals reported with variants in gene. No familial studies found.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis, susceptibility to, 24, 617892

Publications

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

History Filter Activity

23 Jul 2019, Gel status: 2

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene NEK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amyotrophic lateral sclerosis, susceptibility to, 24; 617892 for gene: NEK1 Publications for gene NEK1 were changed from to 29650794; 26945885; 30093141

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NEK1.

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to NEK1.

23 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NEK1 was added gene: NEK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: NEK1 was set to