Motor Neurone Disease
Gene: NEK1
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
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
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: LiteratureCreated: 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
Gene: nek1 has been classified as Green List (High Evidence).
Gene: nek1 has been classified as Green List (High Evidence).
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