Amyotrophic lateral sclerosis/motor neuron disease
Gene: KIF5AEnsemblGeneIds (GRCh38): ENSG00000155980
EnsemblGeneIds (GRCh37): ENSG00000155980
OMIM: 602821, Gene2Phenotype
KIF5A is in 12 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least 4 variants have been reported in 9 unrelated cases.Created: 29 Sep 2022, 11:35 a.m. | Last Modified: 29 Sep 2022, 11:35 a.m.
Panel Version: 1.61
Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)
"...mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases." (Nicolas et al., 2018)
Sources: LiteratureCreated: 14 Dec 2021, 12:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyotrophic lateral sclerosis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- {Amyotrophic lateral sclerosis, susceptibility to, 25}, OMIM:617921
- amyotrophic lateral sclerosis, susceptibility to, 25, MONDO:0060670
- OMIM
- 602821
- Clinvar variants
- Variants in KIF5A
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Mitochondrial disorders
- Hereditary spastic paraplegia
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: KIF5A were changed from Amyotrophic lateral sclerosis to {Amyotrophic lateral sclerosis, susceptibility to, 25}, OMIM:617921; amyotrophic lateral sclerosis, susceptibility to, 25, MONDO:0060670
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: kif5a 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: KIF5A was added gene: KIF5A was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5A were set to 29566793; 29342275; 30581417; 33077544; 34873335 Phenotypes for gene: KIF5A were set to Amyotrophic lateral sclerosis Penetrance for gene: KIF5A were set to unknown Review for gene: KIF5A was set to GREEN