Amyotrophic lateral sclerosis/motor neuron disease
Gene: NEK1
ClinGen Definitive gene - disease classification (29/04/2022):https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb4f311c-df33-4d9e-8ac6-731b43b93615-2022-04-29T192526.542Z?page=1&size=25&search=Created: 14 Mar 2023, 2:31 p.m. | Last Modified: 14 Mar 2023, 2:31 p.m.
Panel Version: 1.63
Definitive ALS gene according to both ALSoD (https://alsod.ac.uk) and ClinGen.
Sources: Literature, Research, ClinGenCreated: 2 Mar 2023, 2:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyotrophic lateral sclerosis, susceptibility to, 24
Publications
Phenotypes for gene: NEK1 were changed from Amyotrophic lateral sclerosis, susceptibility to, 24 to Amyotrophic lateral sclerosis, susceptibility to, 24, OMIM:617892; amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750
Gene: nek1 has been classified as Green List (High Evidence).
gene: NEK1 was added gene: NEK1 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature,Research,ClinGen Mode of inheritance for gene: NEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEK1 were set to 26945885; 27455347 Phenotypes for gene: NEK1 were set to Amyotrophic lateral sclerosis, susceptibility to, 24 Penetrance for gene: NEK1 were set to unknown