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Supplemental Material Supplemental Material J. Clin. Med. 2020, 9, x; doi: FOR PEER REVIEW www.mdpi.com/journal/jcm J. Clin. Med. 2020, 9, x FOR PEER REVIEW 2 of 23 Table S1. Disease specific gene panels. DCM panel Gene Gene ENSEMBL Phenotype (Phenotype MIM Allelic Disorder (Phenotype MIM Location RefSeq Symbol Description Transcript ID Number) Number) ATP binding cassette NM_005691. Cardiomyopathy, dilated, 1O ABCC9 12p12.1 ENST00000261201.8 subfamily C 3 (608569) member 9 Cardiomyopathy, hypertrophic, 11 Actin alpha NM_005159. Cardiomyopathy, dilated, 1R ACTC1 15q11-q14 ENST00000290378.5 (612098)/Left ventricular noncompaction 4 cardiac muscle 1 4 (613424) (613424) Cardiomyopathy, dilated, 1AA, Cardiomyopathy, hypertrophic, 23, with or ACTN2 1q42-q43 Actinin alpha 2 NM_001103. ENST00000366578.5 with or without LVNC without LVNC (612158) 3 (612158) 10q25.2- BCL2 associated NM_004281. Cardiomyopathy, dilated, 1HH BAG3 ENST00000369085.7 Myopathy, myofibrillar, 6 (612954) q26.2 athanogene 3 3 (613881) 11q22.3- Crystallin alpha NM_001885. Cardiomyopathy, dilated, 1II CRYAB ENST00000616970.4 Myopathy, myofibrillar, 2 (608810) q23.1 B 2 (615184) NM_001927. Cardiomyopathy, dilated, 1I DES 2q35 Desmin ENST00000373960.3 Myopathy, myofibrillar, 1 (601419) 3 (604765) NM_004006. Cardiomyopathy, dilated, 3B DMD Xp21.2 Dystrophin ENST00000357033.8 Duchenne muscular dystrophy (310200) 2 (302045) NM_001943. Cardiomyopathy, dilated, 1BB Arrhythmogenic right ventricular DSG2 18q12.1 Desmoglein 2 ENST00000261590.12 4 (612877) dysplasia 10 (610193) Dilated cardiomyopathy with NM_004415. Arrhythmogenic right ventricular DSP 6p24 Desmoplakin ENST00000379802.7 woolly hair, keratoderma, and 3 dysplasia 8 (607450) tooth agenesis (615821) Muscular dystrophy-dystroglycanopathy NM_001079 Cardiomyopathy, dilated, 1X FKTN 9q31-q33 Fukutin ENST00000602661.5 (congenital with brain and eye anomalies), 802.1 (611615) type A, 4 (253800) J. Clin. Med. 2020, 9, x FOR PEER REVIEW 3 of 23 Laminin subunit NM_002290. Cardiomyopathy, dilated, 1JJ LAMA4 6q21 ENST00000522006.5 alpha 4 4 (615235) NM_001080 Cardiomyopathy, dilated, 1C, Cardiomyopathy, hypertrophic, 24 10q22.3- LIM domain 116.1 ENST00000372066.7 LDB3 with or without LVNC (601493) / Myopathy, myofibrillar, 4 q23.2 binding 3 NM_007078. ENST00000361373.8 (601493) (609452) 2 1q21.2- NM_170707. Cardiomyopathy, dilated, 1A Emery-Dreifuss muscular dystrophy 2, LMNA Lamin A/C ENST00000368300.8 q21.3 3 (115200) autosomal dominant (181350) Myosin binding Cardiomyopathy, hypertrophic, 4 MYBPC NM_000256. Cardiomyopathy, dilated, 1MM 11p11.2 protein C, ENST00000545968.5 (115197) / Left ventricular noncompaction 3 3 (615396) cardiac 10 (615396) Myosin heavy NM_002471. Cardiomyopathy, dilated, 1EE Cardiomyopathy, hypertrophic, 14 MYH6 14q12 ENST00000405093.7 chain 6 3 (613252) (613251) Myosin heavy NM_000257. Cardiomyopathy, dilated, 1S Cardiomyopathy, hypertrophic, 1 MYH7 14q12 ENST00000355349.3 chain 7 3 (613426) (192600) NM_032578. Cardiomyopathy, dilated, 1KK Cardiomyopathy, hypertrophic, 22 MYPN 10q21.3 Myopalladin ENST00000358913.9 3 (615248) (615248) Nexilin F-actin NM_144573. Cardiomyopathy, dilated, 1CC Cardiomyopathy, hypertrophic, 20 NEXN 1p31.1 ENST00000334785.11 binding protein 3 (613122) (613876) NM_002667. Cardiomyopathy, dilated, 1P Cardiomyopathy, hypertrophic, 18 PLN 6q22.1 Phospholamban ENST00000357525.5 4 (609909) (613874) Raf-1 proto- oncogene, NM_002880. Cardiomyopathy, dilated, 1NN RAF1 3p25 ENST00000251849.8 Noonan syndrome 5 (611553) serine/threonine 3 (615916) kinase RNA binding NM_001134 Cardiomyopathy, dilated, 1DD RBM20 10q25.2 ENST00000369519.3 motif protein 20 363.2 (613172) Sodium voltage- NM_198056. Cardiomyopathy, dilated, 1E Brugada syndrome 1 (601144) / Long SCN5A 3p21 gated channel ENST00000333535.8 2 (601154) QT syndrome-3 (603830) alpha subunit 5 Succinate NM_004168. Cardiomyopathy, dilated, 1GG SDHA 5p15 ENST00000264932.10 Paragangliomas 5 (614165) dehydrogenase 3 (613642) J. Clin. Med. 2020, 9, x FOR PEER REVIEW 4 of 23 complex flavoprotein subunit A Sarcoglycan NM_000337. Cardiomyopathy, dilated, 1L Muscular dystrophy, limb-girdle, SGCD 5q33-q34 ENST00000337851.8 delta 5 (606685) autosomal recessive 6 (601287) Troponin C1, 3p21.3- NM_003280. Cardiomyopathy, dilated, 1Z Cardiomyopathy, hypertrophic, 13 TNNC1 slow skeletal ENST00000232975.7 p14.3 2 (611879) (613243) and cardiac type Troponin I3, NM_000363. Cardiomyopathy, dilated, 1FF Cardiomyopathy, hypertrophic, 7 TNNI3 19q13.4 ENST00000344887.9 cardiac type 4 (613286) (613690) NM_001001 Troponin T2, 430.2 ENST00000367318.9 Cardiomyopathy, dilated, 1D Cardiomyopathy, hypertrophic, 2 TNNT2 1q32 cardiac type NM_000364. ENST00000236918.11 (601494) (115195) 3 NM_001018 Cardiomyopathy, dilated, 1Y Cardiomyopathy, hypertrophic, 3 TPM1 15q22.1 Tropomyosin 1 ENST00000403994.7 005.1 (611878) (115196) NM_001267 Cardiomyopathy, dilated, 1G TTN 2q31 Titin ENST00000589042.5 550.2 (604145) 10q22.1- NM_014000. Cardiomyopathy, dilated, 1W Cardiomyopathy, hypertrophic, 15 VCL Vinculin ENST00000211998.9 q23 2 (611407) (613255) HCM panel ENSEMBL Gene Gene Phenotype (Phenotype MIM Location RefSeq Transcript Allelic Disorder (Phenotype MIM Number) Symbol Description Number) ID Actin alpha NM_005 ENST00000 Cardiomyopathy, Cardiomyopathy, dilated, 1R (613424) / Left ventricular ACTC1 15q11-q14 cardiac 159.4 290378.5 hypertrophic, 11 (612098) noncompaction 4 (613424) muscle 1 Cardiomyopathy, Actinin Cardiomyopathy, dilated, 1AA, with or without LVNC ACTN2 1q42-q43 NM_001 ENST00000 hypertrophic, 23, with or alpha 2 (612158) 103.3 366578.5 without LVNC (612158) J. Clin. Med. 2020, 9, x FOR PEER REVIEW 5 of 23 NM_033 ENST00000 Cardiomyopathy, familial Long QT syndrome 9 (611818) / Rippling muscle disease CAV3 3p25 Caveolin 3 337.2 343849.2 hypertrophic (192600) 2 (606072) Cysteine and NM_003 ENST00000 CSRP3 11p15.1 glycine rich Cardiomyopathy, hypertrophic, 12 (612124) 476.4 533783.2 protein 3 Four and a NM_001 ENST00000 FHL1 Xq26 half LIM Emery-Dreifuss muscular dystrophy 6, X-linked (300696) 449.4 370690.7 domains 1 Galactosidas NM_000 ENST00000 GLA Xq22 Fabry disease (301500) e alpha 169.2 218516.3 Junctophilin NM_020 ENST00000 JPH2 20q13.12 Cardiomyopathy, hypertrophic, 17 (613873) 2 433.4 372980.3 Lysosomal NM_002 ENST00000 associated 294.2 200639.8 LAMP2 Xq24 Danon disease (300257) membrane NM_013 ENST00000 protein 2 995.2 371335.4 NM_001 ENST00000 10q22.3- LIM domain 080116.1 372066.7 Cardiomyopathy, Cardiomyopathy, dilated, 1C, with or without LVNC LDB3 q23.2 binding 3 NM_007 ENST00000 hypertrophic, 24 (601493) (601493) / Myopathy, myofibrillar, 4 (609452) 078.2 361373.8 Myosin binding NM_000 ENST00000 Cardiomyopathy, Cardiomyopathy, dilated, 1MM (615396) / Left MYBPC3 11p11.2 protein C, 256.3 545968.5 hypertrophic, 4 (115197) ventricular noncompaction 10 (615396) cardiac Myosin NM_002 ENST00000 Cardiomyopathy, MYH6 14q12 heavy chain Cardiomyopathy, dilated, 1EE (613252) 471.3 405093.7 hypertrophic, 14 (613251) 6 Myosin NM_000 ENST00000 Cardiomyopathy, MYH7 14q12 heavy chain Cardiomyopathy, dilated, 1S (613426) 257.3 355349.3 hypertrophic, 1 (192600) 7 12q23- Myosin light NM_000 ENST00000 MYL2 Cardiomyopathy, hypertrophic, 10 (608758) q24.3 chain 2 432.3 228841.12 J. Clin. Med. 2020, 9, x FOR PEER REVIEW 6 of 23 3p21.3- Myosin light NM_000 ENST00000 MYL3 Cardiomyopathy, hypertrophic, 8 (608751) p21.2 chain 3 258.2 292327.4 Myosin light NM_033 MYLK2 20q13.31 chain kinase ENST00000 Cardiomyopathy, hypertrophic, 1, digenic (192600) 118.3 2 375985.4 NM_016 ENST00000 MYOZ2 4q26-q27 Myozenin 2 Cardiomyopathy, hypertrophic, 16 (613838) 599.4 307128.5 NM_032 Cardiomyopathy, MYPN 10q21.3 Myopalladin ENST00000 Cardiomyopathy, dilated, 1KK (615248) 578.3 hypertrophic, 22 (615248) 358913.9 Nexilin F- NM_144 ENST00000 Cardiomyopathy, NEXN 1p31.1 actin binding Cardiomyopathy, dilated, 1CC (613122) 573.3 334785.11 hypertrophic, 20 (613876) protein NM_002 ENST00000 Cardiomyopathy, PLN 6q22.1 Phospholam Cardiomyopathy, dilated, 1P (609909) 667.4 357525.5 hypertrophic, 18 (613874) ban Protein kinase AMP- activated NM_016 ENST00000 PRKAG2 7q36.1 Cardiomyopathy, hypertrophic 6 (600858) non-catalytic 203.3 287878.8 subunit gamma 2 NM_003 ENST00000 Cardiomyopathy, Muscular dystrophy, limb-girdle, autosomal recessive 7 TCAP 17q12 Titin-cap 673.3 309889.2 hypertrophic, 25 (607487) (601954) Troponin C1, 3p21.3- slow skeletal NM_003 Cardiomyopathy, TNNC1 ENST00000 Cardiomyopathy, dilated, 1Z (611879) p14.3 and cardiac 280.2 hypertrophic, 13 (613243) 232975.7 type Troponin I3, NM_000 Cardiomyopathy, TNNI3 19q13.4 ENST00000 Cardiomyopathy, dilated, 1FF (613286) cardiac type 363.4 hypertrophic, 7 (613690) 344887.9 J. Clin. Med. 2020, 9, x FOR PEER REVIEW 7 of 23 NM_001 ENST00000 Troponin T2, 001430.2 367318.9 Cardiomyopathy, TNNT2 1q32 Cardiomyopathy, dilated, 1D (601494) cardiac type NM_000 ENST00000 hypertrophic, 2 (115195) 364.3 236918.11 Tropomyosin NM_001 ENST00000 Cardiomyopathy, TPM1 15q22.1 Cardiomyopathy, dilated, 1Y (611878) 1 018005.1 403994.7 hypertrophic, 3 (115196) NM_001 Cardiomyopathy, familial TTN 2q31 Titin ENST00000 Cardiomyopathy, dilated, 1G (604145) 267550.2 hypertrophic, 9 (613765) 589042.5 Transthyreti NM_000 ENST00000 TTR 18q12.1 Amyloidosis, hereditary, transthyretin-related (105210) n 371.3 237014.7 10q22.1- NM_014 Cardiomyopathy, VCL Vinculin ENST00000 Cardiomyopathy, dilated, 1W (611407) q23 000.2 hypertrophic, 15 (613255) 211998.9 RCM panel Phenotype Gene Gene ENSEMBL Location RefSeq (Phenotype MIM Allelic Disorder (Phenotype MIM Number) Symbol Description Transcript
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