Skeletal dysplasia

Gene: NEK1

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

• 21211617
• 22499340
• 25492405
• 28123176

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

• 33445179