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

Definitive classifications

intellectual disability, autosomal dominant 9
Submitted as: OMIM:614255
AD
07/22/2015
Evaluated
11/25/2020
Submitted
neuropathy, hereditary sensory, type 2C
Submitted as: OMIM:614213
AR
07/22/2015
Evaluated
11/25/2020
Submitted
syndromic intellectual disability
AD
09/24/2020
Evaluated
08/16/2021
Submitted

Strong 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

Moderate classifications

intellectual disability, autosomal dominant 9
Submitted as: OMIM:614255
AD
02/09/2017
Evaluated
12/24/2020
Submitted

Supportive classifications

hereditary sensory and autonomic neuropathy type 2
Submitted as: Orphanet:970
AR
09/14/2021
Evaluated
09/14/2021
Submitted
PEHO syndrome
Submitted as: Orphanet:2836
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary spastic paraplegia 30
Submitted as: Orphanet:101010
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

neuropathy, hereditary sensory, type 2C
Submitted as: OMIM:614213
AR
07/17/2017
Evaluated
12/24/2020
Submitted

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