Fig. 6.

Genes implicated in the solved paediatric (n = 52) and adult (n = 146) cardiomyopathy probands in 100,000 Genome Project split by recruitment disease categories: Primary—DCM, HCM, Other (which includes ARVC and LVNC) and Complex CM (participants recruited under a non-cardiomyopathy disease category but who have a human phenotype ontology (HPO) term containing ‘cardiomyopathy’). Labels on bars indicate number of probands. Genes are colour coded: black genes are on the current R135 CM panel ‘green’ list; grey genes are on the R135 CM panel ‘green’ list but are not robustly associated with the type of cardiomyopathy reported in the solved case, e.g. PKP2 and HCM; dark purple genes are not on the current R135 CM panel ‘green’ list but CM is a recognised feature of the associated disease (NDUFA4 and FKRP are on the ‘amber’ list); light purple genes in bold are not on the current R135 CM panel ‘green’ list and CM is not a recognised feature of the associated disease. Full variant details can be found in Tables S10 and S11. *One adult proband recruited under HCM has both a pathogenic variant in PKP2 and a likely pathogenic variant in LZTR1 (see Table S11 for details). R135 CM panel—NHS Genomic Medicine Service paediatric or syndromic cardiomyopathy panel (R135 v3.44); ‘green’ list—genes with the highest level of evidence; ‘amber’ list—genes with moderate evidence; ARVC, arrhythmogenic right ventricular cardiomyopathy; CM, cardiomyopathy; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; LVNC, left ventricular non-compaction cardiomyopathy