CAPN1 - Gene browser

CAPN1

calpain 1

HCNC Approved Symbol: CAPN1 (HGNC:1476)
Genomic Coordinates: 11:65,181,373 - 65,212,006 (11q13.1)
Synonyms: muCANP, muCL, CANP, CANPL1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the CAPN1 gene.

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

07
Patient count

Spastic paraplegia: 6 (85.7%)
Patient Count: 6 (85.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (85.7%)
Lower limb spasticity: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Spasticity: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Myotonia: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Ataxia: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)