Gene Symbol:
KIF5A
HGNC:6323
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q13.3
Filters:

Definitive classifications

amyotrophic lateral sclerosis, susceptibility to, 25
AD
12/01/2021
Evaluated
10/27/2022
Submitted
amyotrophic lateral sclerosis, susceptibility to, 25
AD
05/26/2022
Evaluated
10/18/2023
Submitted
inherited neurodegenerative disorder
AD
07/12/2023
Evaluated
10/18/2023
Submitted
myoclonus, intractable, neonatal
Submitted as: OMIM:617235
AD
07/09/2021
Evaluated
09/11/2023
Submitted

Strong classifications

hereditary spastic paraplegia 10
Submitted as: OMIM:604187
AD
01/28/2021
Evaluated
03/31/2021
Submitted
hereditary spastic paraplegia 10
Submitted as: OMIM:604187
AD
02/29/2016
Evaluated
03/02/2021
Submitted
hereditary spastic paraplegia 10
Submitted as: OMIM:604187
AD
01/23/2023
Evaluated
11/30/2023
Submitted
myoclonus, intractable, neonatal
Submitted as: OMIM:617235
AD
09/25/2020
Evaluated
11/30/2023
Submitted
amyotrophic lateral sclerosis, susceptibility to, 25
Submitted as: OMIM:617921
AD
04/24/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

myoclonus, intractable, neonatal
AD
05/19/2022
Evaluated
10/27/2022
Submitted

Supportive classifications

hereditary spastic paraplegia 10
Submitted as: Orphanet:100991
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Submitted as: Orphanet:324611
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

myoclonus, intractable, neonatal
Submitted as: OMIM:617235
AD
01/22/2018
Evaluated
03/02/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.