Collaborator: Columbia University

• Biallelic, and not monoallelic, loss of function variants in TRIM63 most likely cause cardiomyopathy

  Heterozygous variants in TRIM63 had previously been implicated in cardiomyopathy in humans. However, with the release of large control databases (ExAD and gnomAD) these previously-identified variants were deemed non-disease-causing due to their high population frequencies. By diagnostic exome sequencing (DES) we identified a patient with cardiomyopathy harboring biallelic loss of function variants in TRIM63, similar…

  April 2, 2026