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

Amyotrophic lateral sclerosis, susceptibility to, 25 classifications

amyotrophic lateral sclerosis, susceptibility to, 25
AD
12/01/2021
Evaluated
10/27/2022
Submitted
amyotrophic lateral sclerosis, susceptibility to, 25
Submitted as: OMIM:617921
AD
04/24/2023
Evaluated
11/30/2023
Submitted
amyotrophic lateral sclerosis, susceptibility to, 25
AD
05/26/2022
Evaluated
04/21/2024
Submitted

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation classifications

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

Hereditary spastic paraplegia 10 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: Orphanet:100991
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary spastic paraplegia 10
Submitted as: OMIM:604187
AD
01/23/2023
Evaluated
11/30/2023
Submitted

Inherited neurodegenerative disorder classifications

inherited neurodegenerative disorder
AD
07/12/2023
Evaluated
04/21/2024
Submitted

Myoclonus, intractable, neonatal classifications

myoclonus, intractable, neonatal
Submitted as: OMIM:617235
AD
01/22/2018
Evaluated
03/02/2021
Submitted
myoclonus, intractable, neonatal
AD
05/19/2022
Evaluated
10/27/2022
Submitted
myoclonus, intractable, neonatal
Submitted as: OMIM:617235
AD
07/09/2021
Evaluated
09/11/2023
Submitted
myoclonus, intractable, neonatal
Submitted as: OMIM:617235
AD
09/25/2020
Evaluated
11/30/2023
Submitted

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