Table 2.

Allelic Disorders

Gene 1Allelic Disorder
CALM1 Long QT syndrome (LQTS)
LQTS in combination w/epilepsy & neurodevelopmental disorders 2
CALM2 LQTS
CALM3 LQTS 3
KCNJ2 Andersen-Tawil syndrome (characterized by QT prolongation, prominent U waves, & extracardiac features: low-set ears, thin lips, periodic paralysis). Affected persons often present w/ventricular arrhythmias & bidirectional ventricular tachycardias.
RYR2 Pathogenic variants have been assoc w/non-typical hypertrophic cardiomyopathy or LVNC 4
Large deletions have been identified in persons w/LVNC w/ or w/o CPVT 5
TRDN TRDN variants have been identified in affected persons from 33 families w/LQTS. 6

CPVT = catecholaminergic polymorphic ventricular tachycardia; LVNC = left ventricular non-compaction

1.

Genes are listed in alphabetic order.

2.
3.
4.
5.
6.

From: Catecholaminergic Polymorphic Ventricular Tachycardia

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