| Symbol
| SQT2
|
| Location
| 11p15.5
|
| Name
|
short QT syndrome-2 |
| Corresponding gene
|
KCNQ1
|
| Main clinical features
|
idiopathic persistently short QT interval
associated with several episodes of paroxysmal atrial fibrillation, predisposing patients to life-threatening arrhythmias |
| Genetic determination
| not applicable |
| Function/system disorder
| cardiovascular |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
| abnormal protein/gain of function
|
| |
| Remark(s)
|
gain of function mutations in KCNQ1 channels can shorten the duration of ventricular and atrial action potentials |