SCN2A - Gene browser

SCN2A

sodium voltage-gated channel alpha subunit 2

HCNC Approved Symbol: SCN2A (HGNC:10588)
Genomic Coordinates: 2:165,239,414 - 165,392,304 (2q24.3)
Synonyms: Nav1.2, HBSCII, HBSCI, SCN2A1, SCN2A2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

52Patients

In total, 52 patients were diagnosed with a variant in the SCN2A gene.

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

052
Patient count

Seizures: 10 (19.2%)
Patient Count: 10 (19.2%)
% of total patients presenting each phenotype is shown in parentheses.
10 (19.2%)
Epilepsy: 10 (19.2%)
Patient Count: 10 (19.2%)
% of total patients presenting each phenotype is shown in parentheses.
10 (19.2%)
Epileptic encephalopathy: 9 (17.3%)
Patient Count: 9 (17.3%)
% of total patients presenting each phenotype is shown in parentheses.
9 (17.3%)
Global developmental delay: 8 (15.4%)
Patient Count: 8 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
8 (15.4%)
Hypotonia: 6 (11.5%)
Patient Count: 6 (11.5%)
% of total patients presenting each phenotype is shown in parentheses.
6 (11.5%)