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Fig. 1 | Genome Medicine

Fig. 1

From: Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Fig. 1

Flow chart depicting the analysis of inheritance and disease mechanism in established inherited cardiac genes. A structured representation of the resulting data is available in the Additional files 2 and 3 and also through G2P (https://www.ebi.ac.uk/gene2phenotype/downloads), which is also searchable through the GenCC portal (https://thegencc.org/). ARVC, arrhythmogenic right ventricular cardiomyopathy; BrS, Brugada syndrome; CPVT, catecholaminergic polymorphic ventricular tachycardia; DCM, dilated cardiomyopathy; G2P, gene2phenotype; GenCC, Gene Curation Coalition; HCM, hypertrophic cardiomyopathy; LQTS, long QT syndrome; SQTS, short QT syndrome

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Genome Medicine

ISSN: 1756-994X

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