KIF5A - Gene browser

KIF5A

kinesin family member 5A

HCNC Approved Symbol: KIF5A (HGNC:6323)
Genomic Coordinates: 12:57,550,044 - 57,586,633 (12q13.3)
Synonyms: D12S1889, NKHC, MY050, SPG10
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the KIF5A gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

08
Patient count

Spastic paraplegia: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Polyneuropathy: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Cerebellar ataxia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Lower limb spasticity: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Spasticity: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)