The genetics of cardiomyopathy has become increasingly heterogeneous and complex in recent years, with ever more genes and variants associated with each condition. However, as our understanding of the level of rare variation in the general population has grown, it has become clear that many of these associations are not robust and may in fact represent benign, background variation unconnected to disease. The Atlas of Cardiac Genetic Variation utilises two substantial resources of genetic data - population data from the Exome Aggregation Consortium (ExAC) and clinical data from the Oxford Molecular Genetics Laboratory (OMGL) and the Laboratory of Molecular Medicine (LMM) - to clarify the genetics of cardiomyopathies and inform clinical decision making. Clinical geneticists and researchers can explore the overall genetic architecture of HCM, DCM or ARVC, examine the role of specific genes or check the status of individual variants identified in cardiomyopathy patients to assess the likelihood of pathogenicity. This resource was produced in conjunction with the following publication:
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Genet. Med. 2016 doi:10.1038/gim.2016.90.
Select a gene and enter a variant (HGVS format, e.g. c.1234A>T) in the form below to assess frequency in population databases (ExAC, ESP, 1000 Genomes), detection and classification by OMGL and LMM clinical labs, and the likelihood of pathogenicity for the variant in relevant cardiomyopathies.