SPG11 - Gene browser

SPG11

SPG11 vesicle trafficking associated, spatacsin

HCNC Approved Symbol: SPG11 (HGNC:11226)
Genomic Coordinates: 15:44,562,696 - 44,663,662 (15q21.1)
Synonyms: FLJ21439, KIAA1840, ALS5
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

39Patients

In total, 39 patients were diagnosed with a variant in the SPG11 gene.

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

039
Patient count

Spastic paraplegia: 19 (48.7%)
Patient Count: 19 (48.7%)
% of total patients presenting each phenotype is shown in parentheses.
19 (48.7%)
Intellectual disability: 13 (33.3%)
Patient Count: 13 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
13 (33.3%)
Spasticity: 12 (30.8%)
Patient Count: 12 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
12 (30.8%)
Lower limb spasticity: 9 (23.1%)
Patient Count: 9 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
9 (23.1%)
Walking difficulties: 5 (12.8%)
Patient Count: 5 (12.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (12.8%)