Figure 1.

Number of rare unique variants identified in each gene. Genes are selected based on two panels signed off by PanelApp consensus: Sudden cardiac death (V 9.46) and cardiomyopathies—including childhood onset (V 1.5). Genes are ordered alphabetically within the panel in which they appear first as well as PanelApp grade (Green or Amber). Green represents diagnostic-grade genes and Amber represents those with borderline clinical actionability. Variants classified as pathogenic/likely pathogenic are shown in dark colour, and variants of uncertain significance are shown in light colour (see legend). Genes where no rare variants are identified are not shown (full list in Supplementary material online, Table S3). Variants that are low quality (see Supplementary material online, Note) are not shown, unless they were validated using Sanger sequencing (a full list of such variants appears in Supplementary material online, Table S5). Genes classified by the ClinGen cardiovascular clinical domain working group as having moderate evidence in cardiac arrhythmia syndromes or cardiomyopathies are marked with as asterisk. CM, cardiomyopathy; P/LP, pathogenic/likely pathogenic variant; SCD, sudden cardiac death; VUS, variant of uncertain significance.