Amyotrophic lateral sclerosis/motor neuron disease
Gene: NEK1EnsemblGeneIds (GRCh38): ENSG00000137601
EnsemblGeneIds (GRCh37): ENSG00000137601
OMIM: 604588, Gene2Phenotype
NEK1 is in 16 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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
Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Amyotrophic lateral sclerosis, susceptibility to, 24, OMIM:617892
- amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750
- OMIM
- 604588
- Clinvar variants
- Variants in NEK1
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Osteogenesis imperfecta
- Clefting
- Adult onset neurodegenerative disorder
- Ductal plate malformation
- Skeletal ciliopathies
- Fetal anomalies
- Amyotrophic lateral sclerosis/motor neuron disease
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: nek1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)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