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ClinGen reappraisal of genes associated with inherited arrhythmia syndromes
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ClinGen reappraisal of genes associated with inherited arrhythmia syndromes

Journal: Current opinion in genetics & development

Article Title: Genetics of Congenital Arrhythmia Syndromes: The Challenge of Variant Interpretation

doi: 10.1016/j.gde.2022.102004

Figure Lengend Snippet: ClinGen reappraisal of genes associated with inherited arrhythmia syndromes

Article Snippet: Table 1: ClinGen Class Long QT syndrome Brugada syndrome Catecholaminergic polymorphic VT Short QT syndrome Other Definitive KCNQ1, KCNH2, SCN5A, CALM1/2/3 SCN5A RYR2, CASQ2 (AR) , TRDN, TECRL KCNH2 CACNA1C (Timothy), KCNJ2 (Anderson-Tawil) Strong TRDN (AR) — — KCNQ1, SLC4A3 * KCNE1 (aLQTS), KCNE2 (aLQTS) Moderate CACNA1C — CASQ2(AD), CALM1/2/3 SLC4A3 * , KCNJ2 — Limited CAV3, KCNE1, KCNJ2 — — — — Disputed/ No evidence SNTA1, AKAP9, ANK2, KCNE2, KCNJ5, SCN4B 20 genes ANK2, KCNJ2, PKP2, SCN5A CACNA1C, CACNA2D1, CACNB2, SCN5A, SLC22A5 ** — Open in a separate window Adapted from ClinGen reappraisals of LQTS [ 4 ], BrS [ 5 ], and CPVT/SQTS [ 6 ].

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