CACNA1S - Gene browser

CACNA1S

calcium voltage-gated channel subunit alpha1 S

HCNC Approved Symbol: CACNA1S (HGNC:1397)
Genomic Coordinates: 1:201,039,512 - 201,112,426 (1q32.1)
Synonyms: Cav1.1, hypoPP, HOKPP, MHS5, CACNL1A3
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the CACNA1S gene.

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

012
Patient count

Periodic paralysis: 6 (50.0%)
Patient Count: 6 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (50.0%)
Periodic hypokalemic paresis: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Developmental delay: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Learning disability, mild: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Aphasia: 1 (8.3%)
Patient Count: 1 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (8.3%)