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. 2018 Aug 12;2018(3):23. doi: 10.21542/gcsp.2018.23

Table 1. Genes included in our Hypertrophic Cardiomyopathy extended panel.

GENE SYMBOL PROTEIN NAME
ACTC1 Actin, alpha cardiac muscle 1
DES Desmin
FLNC Filamin-C
GLA Alpha galactosidase A
LAMP2 Lysosome-associated membrane glycoprotein 2
MYBPC3 Myosin-binding protein C, cardiac-type
MYH7 Myosin-7
MYL2 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
MYL3 Myosin light chain 3
PLN Cardiac phospholamban
PRKAG2 5′-AMP-activated protein kinase subunit gamma-2
PTPN11 Tyrosine-protein phosphatase non-receptor type 11
TNNC1 Troponin C, slow skeletal and cardiac muscles
TNNI3 Troponin I, cardiac muscle
TNNT2 Troponin T, cardiac muscle
TPM1 Tropomyosin alpha-1 chain
TTR Transthyretin
AARS2 Alanine–tRNA ligase, mitochondrial
ACAD9 Acyl-CoA dehydrogenase family member 9, mitochondrial
ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
ACTA1 Actin, alfa 1, skeletal muscle
ACTN2 Alpha-actinin-2
AGK Acylglycerol kinase, mitochondrial
AGL Glycogen debranching enzyme
AGPAT2 1-acyl-sn-glycerol-3-phosphate acyltransferase beta
ANK2 Ankyrin 2
ANKRD1 Ankyrin repeat domain-containing protein 1
ATP5F1E ATP synthase subunit epsilon, mitochondrial
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
BRAF Serine/threonine-protein kinase B-raf
BSCL2 Seipin
CALR3 Calreticulin 3
CAV3 Caveolin 3
COA5 cytochrome c oxidase assembly factor 5
COA6 cytochrome c oxidase assembly factor 6 homolog
COQ2 4-hydroxybenzoate polyprenyltransferase, mitochondrial
COX15 Cytochrome c oxidase assembly protein COX15 homolog
COX6B1 Cytochrome c oxidase subunit 6B1
CRYAB Alpha-crystallin B chain
CSRP3 Cysteine and glycine-rich protein 3
DLD Dihydrolipoyl dehydrogenase, mitochondrial
DSP Desmoplakin
ELAC2 Zinc phosphodiesterase ELAC protein 2
FAH Fumarylacetoacetase
FHL1 Four and a half LIM domains protein 1
FHL2 Four and a half LIM domains 2 (FHL-2), Skeletal muscle LIM-protein 3 (SLIM-3)
FHOD3 FH1/FH2 domain-containing protein 3
FOXRED1 FAD-dependent oxidoreductase domain-containing protein 1
FXN Frataxin, mitochondrial
GAA Lysosomal alpha-glucosidase
GFM1 Elongation factor G, mitochondrial {ECO:0000255—HAMAP-Rule:MF_03061}
GLB1 Beta-galactosidase
GNPTAB N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
GUSB Beta-glucuronidase
HRAS GTPase HRas
JPH2 Junctophilin 2
KRAS GTPase KRas
LDB3 LIM domain-binding protein 3
LIAS Lipoyl synthase, mitochondrial
LZTR1 Leucine-zipper-like transcriptional regulator 1
MAP2K1 Dual specificity mitogen-activated protein kinase kinase 1
MAP2K2 Dual specificity mitogen-activated protein kinase kinase 2
MLYCD Malonyl-CoA decarboxylase, mitochondrial
MRPL3 39S ribosomal protein L3, mitochondrial
MRPL44 39S ribosomal protein L44, mitochondrial
MRPS22 28S ribosomal protein S22, mitochondrial
MTO1 Protein MTO1 homolog, mitochondrial
MYH6 Myosin-6
MYOM1 Myomesin-1
MYOZ2 Myozenin-2
MYPN Myopalladin
NEXN Nexilin
NF1 Neurofibromin
NRAS GTPase NRas
OBSCN Obscurin
PDHA1 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
PHKA1 Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
PMM2 Phosphomannomutase 2
RAF1 RAF proto-oncogene serine/threonine-protein kinase
SCO2 Protein SCO2 homolog, mitochondrial
SHOC2 Leucine-rich repeat protein SHOC-2
SLC22A5 Solute carrier family 22 member 5
SLC25A3 phosphate carrier protein, mitochondrial
SLC25A4 ADP/ATP translocase 1
SOS1 Son of sevenless homolog 1
SURF1 Surfeit locus protein 1
TAZ Tafazzin
TCAP Telethonin
TMEM70 Transmembrane protein 70, mitochondrial
TRIM63 E3 ubiquitin-protein ligase TRIM63
TSFM Elongation factor Ts, mitochondria
TTN Titin
VCL Vinculin
BAG3 BAG family molecular chaperone regulator 3
CASQ2 Calsequestrin-2
CAVIN4 Caveolae-associated protein 4
IDH2 isocitrate dehydrogenase [NADP], mitochondrial
KCNJ8 ATP-sensitive inward rectifier potassium channel 8
KLF10 Krueppel-like factor 10
LMNA Prelamin-A/C
MYLK2 Myosin light chain kinase 2, skeletal/cardiac muscle
OBSL1 Obscurin-like protein 1
PDLIM3 PDZ and LIM domain protein 3
RYR2 Ryanodine receptor 2