Gene Protein Inheritance Disease Association ACTC1 Actin, Alpha, Cardiac Muscle AD CHD, DCM, HCM, LVNC

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Gene Protein Inheritance Disease Association ACTC1 Actin, alpha, cardiac muscle AD CHD, DCM, HCM, LVNC ACTN2 Actinin, alpha-2 AD DCM, HCM ANKRD1 Ankyrin repeat domain-containing protein 1 AD HCM, DCM CAV3 Caveolin 3 AD, AR HCM, LQTS, LGMD, Tateyama-type distal myopathy, rippling muscle disease CSRP3 Cysteine-and glycine-rich protein 3 AD HCM, DCM DES Desmin AD, AR DCM, ARVC, myofibrillar myopathy, RCM with AV block, neurogenic scapuloperoneal syndrome Kaeser type, LGMD GLA Galactosidase, alpha X-linked Fabry disease LAMP2 Lysosome-associated membrane protein 2 X-linked Danon disease MYBPC3 Myosin-binding protein-C, cardiac AD HCM, DCM MYH7 Myosin, heavy chain 7, cardiac muscle, beta AD HCM, DCM, LVNC, myopathy MYL2 Myosin, light chain 2, regulatory, cardiac, slow AD HCM MYL3 Myosin, light chain 3, alkali, ventricular, skeletal, slow AD, AR HCM MYLK2 Myosin light chain kinase 2 AD HCM MYOZ2 Myozenin 2 AD HCM NEXN Nexilin AD HCM, DCM PLN Phospholamban AD HCM, DCM PRKAG2 Protein kinase, amp-activated, noncatalytic, gamma 2 AD HCM, Wolff-Parkinson-White syndrome RAF1 V-raf-1 murine leukemia viral oncogene homolog 1 AD Noonan/LEOPARD syndrome TCAP Titin-cap (telethonin) AD, AR HCM, DCM, LGMD TNNC1 Troponin C, slow AD HCM, DCM TNNI3 Troponin I, cardiac AD, AR DCM, HCM, RCM TNNT2 Troponin T2, cardiac AD HCM, DCM, RCM, LVNC TPM1 Tropomyosin 1 AD HCM, DCM, LVNC TTN Titin AD, AR HCM, DCM, myopathy TTR Transthyretin AD Transthyretin-related amyloidosis VCL Vinculin AD HCM, DCM Table 2. Genes included in the Hypertrophic Cardiomyopathy Multi-Gene Panel Abbreviations: Congenital heart defects (CHD), long QT syndrome (LQTS), limb-girdle muscular dystrophy (LGMD), autosomal dominant (AD), autosomal recessive (AR) Hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), left ventricular noncompaction cardiomyopathy (LVNC), restrictive cardiomyopathy (RCM) 4 | MayoMedicalLaboratories.com/communique Volume 40 No. 4.

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