SCN4A - Gene browser

SCN4A

sodium voltage-gated channel alpha subunit 4

HCNC Approved Symbol: SCN4A (HGNC:10591)
Genomic Coordinates: 17:63,938,554 - 63,972,918 (17q23.3)
Synonyms: Nav1.4, HYPP, SkM1, HYKPP
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

27Patients

In total, 27 patients were diagnosed with a variant in the SCN4A gene.

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

027
Patient count

Myotonia: 8 (29.6%)
Patient Count: 8 (29.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (29.6%)
Dysarthria: 3 (11.1%)
Patient Count: 3 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.1%)
Neonatal hypotonia: 2 (7.4%)
Patient Count: 2 (7.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (7.4%)
Neonatal seizure: 2 (7.4%)
Patient Count: 2 (7.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (7.4%)
Poor suck: 2 (7.4%)
Patient Count: 2 (7.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (7.4%)