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    1. A 27-year-old man

      Case#:1 Male, 27, no reported ethnicity

      DiseaseAssertion: sinus tachycardia, signs of hypertrophy of both atria and ventricles

      FamilyInfo: proband had a sister who died at 15 days of age due to a congenital heart disease (transposition of the great arteries). No other relative was diagnosed with cardiomyopathy of other cardiac disease before 50 years of age

      ParentalTesting: family history was unremarkable. Parents were not consanguineous.

      CasePresentingHPOs: HP:0001639, HP:0001644, HP:0200128, HP:0004308 "Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Ventricular arrhythmia <br /> CaseHPOFreeText: Dilated cardiomyopathy recorded at age of 4, Severe respiratory infection led to circulatory decompensation and acute femoral thrombosis"

      CaseNotHPOs: none reported

      CaseNotHPOFreeText: no evidence of myeloproliferative disease was found when bone marrow trepanobiopsy was preformed.

      CasePreviousTesting: dcm diagnosis at age 4, Whole exome sequencing (WES)

      Genotyping Method: WES, NGS, & Sanger

      FunctionalAnalysis: none reported

      Variant: chr11:g.47357432_47357458del, ENST00000545968.1: c.2711_2737del, p.2711_2737del

      ClinVar: VCV000978729.2

      gnomAD: ENSG00000134571.12