SCN5A
HGNC ↗2 article(s) in the watch · Constitutional genetics
SCN5A encodes the α-subunit of the cardiac sodium channel Nav1.5. Germline pathogenic SCN5A variants are associated with a spectrum of inherited cardiac arrhythmias: long-QT syndrome type 3, Brugada syndrome, conduction disease, and some cardiomyopathies.
Curated publications
Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome
Brugada syndrome
Short SCN5A Transcript Yields a NaV1.5 Fragment Influencing Cardiac Metabolism
Inherited cardiomyopathy / arrhythmia (Brugada, long QT, etc.) — new mechanism of action
Frequently asked questions
How many Geno'X publications cover the SCN5A gene?+
2 publication(s) on SCN5A have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).
