Gene Symbol:
KIF1A
HGNC:888
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q37.3
Filters:

Autosomal dominant non-syndromic intellectual disability classifications

autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Hereditary sensory and autonomic neuropathy type 2 classifications

hereditary sensory and autonomic neuropathy type 2
Submitted as: Orphanet:970
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Hereditary spastic paraplegia 30 classifications

hereditary spastic paraplegia 30
Submitted as: OMIM:610357
AD
08/28/2020
Evaluated
12/24/2020
Submitted
hereditary spastic paraplegia 30
Submitted as: OMIM:610357
AR
08/28/2020
Evaluated
12/24/2020
Submitted
hereditary spastic paraplegia 30
Submitted as: Orphanet:101010
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary spastic paraplegia 30
Submitted as: OMIM:610357
AR
04/03/2023
Evaluated
11/30/2023
Submitted
hereditary spastic paraplegia 30
Submitted as: OMIM:610357
AD
04/03/2023
Evaluated
11/30/2023
Submitted

Intellectual disability, autosomal dominant 9 classifications

intellectual disability, autosomal dominant 9
Submitted as: OMIM:614255
AD
07/22/2015
Evaluated
09/11/2023
Submitted
intellectual disability, autosomal dominant 9
Submitted as: OMIM:614255
AD
02/09/2017
Evaluated
12/24/2020
Submitted
intellectual disability, autosomal dominant 9
Submitted as: OMIM:614255
AD
08/17/2020
Evaluated
11/30/2023
Submitted

Neuropathy, hereditary sensory, type 2C classifications

neuropathy, hereditary sensory, type 2C
Submitted as: OMIM:614213
AR
07/22/2015
Evaluated
09/11/2023
Submitted
neuropathy, hereditary sensory, type 2C
Submitted as: OMIM:614213
AR
06/01/2023
Evaluated
08/19/2023
Submitted
neuropathy, hereditary sensory, type 2C
Submitted as: OMIM:614213
AR
08/05/2020
Evaluated
11/30/2023
Submitted

PEHO syndrome classifications

PEHO syndrome
Submitted as: Orphanet:2836
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Syndromic intellectual disability classifications

syndromic intellectual disability
AD
09/24/2020
Evaluated
10/18/2023
Submitted

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