SPAST - Gene browser

SPAST

spastin

HCNC Approved Symbol: SPAST (HGNC:11233)
Genomic Coordinates: 2:32,063,556 - 32,157,637 (2p22.3)
Synonyms: FSP2, ADPSP, KIAA1083, SPG4
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

37Patients

In total, 37 patients were diagnosed with a variant in the SPAST gene.

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

037
Patient count

Spastic paraplegia: 12 (32.4%)
Patient Count: 12 (32.4%)
% of total patients presenting each phenotype is shown in parentheses.
12 (32.4%)
Spasticity: 5 (13.5%)
Patient Count: 5 (13.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (13.5%)
Spastic paraparesis: 4 (10.8%)
Patient Count: 4 (10.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.8%)
Lower limb spasticity: 4 (10.8%)
Patient Count: 4 (10.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.8%)
Dystonia: 3 (8.1%)
Patient Count: 3 (8.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (8.1%)