SPG7 - Gene browser

SPG7

SPG7 matrix AAA peptidase subunit, paraplegin

HCNC Approved Symbol: SPG7 (HGNC:11237)
Genomic Coordinates: 16:89,508,388 - 89,557,768 (16q24.3)
Synonyms: CAR, SPG5C, CMAR
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

41Patients

In total, 41 patients were diagnosed with a variant in the SPG7 gene.

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

041
Patient count

Cerebellar ataxia: 15 (36.6%)
Patient Count: 15 (36.6%)
% of total patients presenting each phenotype is shown in parentheses.
15 (36.6%)
Spastic paraplegia: 13 (31.7%)
Patient Count: 13 (31.7%)
% of total patients presenting each phenotype is shown in parentheses.
13 (31.7%)
Ataxia: 12 (29.3%)
Patient Count: 12 (29.3%)
% of total patients presenting each phenotype is shown in parentheses.
12 (29.3%)
Spasticity: 11 (26.8%)
Patient Count: 11 (26.8%)
% of total patients presenting each phenotype is shown in parentheses.
11 (26.8%)
Lower limb spasticity: 10 (24.4%)
Patient Count: 10 (24.4%)
% of total patients presenting each phenotype is shown in parentheses.
10 (24.4%)