Motor Neurone Disease

Gene: NEK1

Green List (high evidence)

NEK1 (NIMA related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 15 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with a skeletal ciliopathy.
Created: 5 May 2021, 12:16 a.m. | Last Modified: 5 May 2021, 12:16 a.m.
Panel Version: 0.7488

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892

Publications

Eleanor Williams (Genomics England)

Green List (high evidence)

PMID: 33445179 - Lattante et al 2021 - identify 20 NEK1 rare variants in 22 unrelated patients from an Italian cohort of 531 sporadic and familial amyotrophic lateral sclerosis (ALS) patients. 2 novel frameshift variants, 18 missense variants, and a novel variant in the start codon were identified. They found a decrease in NEK1 protein levels in fibroblasts from 4 patients (one with a frameshift variant, the other 3 with missense variants), which suggests that missense variants have a pathogenic role. In 7 NEK1 patients they identified additional variants in ALS-associated genes (C9orf72, CCNF, ATXN1, SOD1, FIG4) which supports an oligogenic ALS model.
Created: 4 May 2021, 10:03 a.m. | Last Modified: 4 May 2021, 10:03 a.m.
Panel Version: 0.7488

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

Phenotypes
{Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Exome-wide significant burden of heterozygous loss-of-function identified in ALS case-control studies that is replicated in both familial and simplex cohorts. Segregation of a PTV reported in 2 affected first-degree relatives in a single family. A loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.
Sources: Literature
Created: 8 Sep 2020, 2:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892

Publications

Details

History Filter Activity

8 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nek1 has been classified as Green List (High Evidence).

8 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nek1 has been classified as Green List (High Evidence).

8 Sep 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NEK1 was added gene: NEK1 was added to Motor Neuron Disease. Sources: Literature Mode of inheritance for gene: NEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEK1 were set to 31768050; 26945885; 27455347; 29929116 Phenotypes for gene: NEK1 were set to Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892 Review for gene: NEK1 was set to GREEN