Amyotrophic lateral sclerosis/motor neuron disease
Gene: KIF5A
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
"...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
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
Gene: kif5a has been classified as Green List (High Evidence).
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