KIF1A - Gene browser

KIF1A

kinesin family member 1A

HCNC Approved Symbol: KIF1A (HGNC:888)
Genomic Coordinates: 2:240,713,767 - 240,821,403 (2q37.3)
Synonyms: UNC104, ATSV, C2orf20, SPG30
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

32Patients

In total, 32 patients were diagnosed with a variant in the KIF1A gene.

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

032
Patient count

Global developmental delay: 6 (18.8%)
Patient Count: 6 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
6 (18.8%)
Speech delay: 4 (12.5%)
Patient Count: 4 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.5%)
Cerebellar atrophy: 4 (12.5%)
Patient Count: 4 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.5%)
Generalized hypotonia: 4 (12.5%)
Patient Count: 4 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.5%)
Ataxia: 4 (12.5%)
Patient Count: 4 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.5%)