MOMA NGS Heart Panel v3

The NGS analysis comprises coding exons of the listed genes plus 10 bp of the flanking introns with a minimum coverage of 30x.


List of genes included in "MOMA heart panel version 3", 2015-10-05.

Symbol Name HGNC Location Disease Panel
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 HGNC:60 12p12.1 Primary hereditary arrythmia
ACTC1 actin, alpha, cardiac muscle 1 HGNC:143 15q14 Cardiomyopathy
ACTN2 actinin, alpha 2 HGNC:164 1q42-q43 Cardiomyopathy
AKAP9 A kinase (PRKA) anchor protein 9 HGNC:379 7q21-q22 Primary hereditary arrythmia
ANK2 ankyrin 2, neuronal HGNC:493 4q25-q26 Primary hereditary arrythmia
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) HGNC:15819 10q23.33 Cardiomyopathy
APOB apolipoprotein B HGCN:603 2p24-p23 Familial hypercholesterolemia
BAG3 BCL2-associated athanogene 3 HGNC:939 10q25.2-q26.2 Cardiomyopathy
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit HGNC:1390 12p13.3 Primary hereditary arrythmia
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 HGNC:1399 7q21-q22 Primary hereditary arrythmia
CACNB2 calcium channel, voltage-dependent, beta 2 subunit HGNC:1402 10p12 Primary hereditary arrythmia
CALM1 calmodulin 1 (phosphorylase kinase, delta) HGNC:1442 14q32.11 Primary hereditary arrythmia
CALM2 calmodulin 2 (phosphorylase kinase, delta) HGNC:1445 2p21.3-p21.1 Primary hereditary arrythmia
CALM3 calmodulin 3 (phosphorylase kinase, delta) HGNC:1449 19q13.2-q13.3 Primary hereditary arrythmia
CASQ2 calsequestrin 2 (cardiac muscle) HGNC:1513 1p13.1 Primary hereditary arrythmia
CAV3 caveolin 3 HGNC:1529 3p25 Primary hereditary arrythmia
CRYAB crystallin, alpha B HGNC:2389 11q23.1 Cardiomyopathy
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) HGNC:2472 11p15.1 Cardiomyopathy
CTF1 cardiotrophin 1 HGNC:2499 16p11.2 Cardiomyopathy
CTNNA3 catenin (cadherin-associated protein), alpha 3 HGNC:2511 10q21 Cardiomyopathy
DES desmin HGNC:2770 2q35 Cardiomyopathy
DMD dystrophin HGNC:2928 Xp21.2 Cardiomyopathy
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 HGNC:30528 3q26.33 Cardiomyopathy
DPP6 dipeptidyl-peptidase 6 HGNC:3010 7q36.2 Primary hereditary arrythmia
DSC2 desmocollin 2 HGNC:3036 18q12.1 Cardiomyopathy
DSG2 desmoglein 2 HGNC:3049 18q12.1 Cardiomyopathy
DSP desmoplakin HGNC:3052 6p24.3 Cardiomyopathy
DTNA dystrobrevin, alpha HGNC:3057 18q12 Cardiomyopathy
EMD emerin HGNC:3331 Xq27.3-q28 Cardiomyopathy
EYA4 EYA transcriptional coactivator and phosphatase 4 HGNC:3522 6q23 Cardiomyopathy
FHL1 four and a half LIM domains 1 HGNC:3702 Xq26.3 Cardiomyopathy
FHL2 four and a half LIM domains 2 HGNC:3703 2q12.2 Cardiomyopathy
FKTN fukutin HGNC:3622 9q31.2 Cardiomyopathy
FXN frataxin HGNC:3951 9q21.11 Cardiomyopathy
GAA glucosidase, alpha; acid HGNC:4065 17q25.2-q25.3 Cardiomyopathy
GATA4 GATA binding protein 4 HGNC:4173 8p23.1-p22 Cardiomyopathy
GJA5 gap junction protein, alpha 5, 40kDa HGNC:4279 1q21.2 Cardiomyopathy
GLA galactosidase, alpha HGNC:4296 Xq21.3-q22 Cardiomyopathy
GPD1L glycerol-3-phosphate dehydrogenase 1-like HGNC:28956 3p22.3 Cardiomyopathy
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 HGNC:4845 5p12 Primary hereditary arrythmia
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 HGNC:16882 15q24.1 Primary hereditary arrythmia
JPH2 junctophilin 2 HGNC:14202 20q13.12 Cardiomyopathy
JUP junction plakoglobin HGNC:6207 17q21 Cardiomyopathy
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5 HGNC:6224 12p13 Primary hereditary arrythmia
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3 HGNC:6239 1p13.2 Primary hereditary arrythmia
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 HGNC:6240 21q22.1-q22.2 Primary hereditary arrythmia
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 HGNC:6242 21q22.1 Primary hereditary arrythmia
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 HGNC:6243 11q13.4 Primary hereditary arrythmia
KCNE4 potassium channel, voltage gated subfamily E regulatory beta subunit 4 HGNC:6244 2q36.1 Primary hereditary arrythmia
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5 HGNC:6241 Xq22.3 Primary hereditary arrythmia
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 HGNC:6251 7q36.1 Primary hereditary arrythmia
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 HGNC:6263 17q24.3 Primary hereditary arrythmia
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5 HGNC:6266 11q24 Primary hereditary arrythmia
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8 HGNC:6269 12p12.1 Primary hereditary arrythmia
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 HGNC:6294 11p15.5 Primary hereditary arrythmia
LAMA4 laminin, alpha 4 HGNC:6484 6q21 Cardiomyopathy
LAMP2 lysosomal-associated membrane protein 2 HGNC:6501 Xq24 Cardiomyopathy
LDB3 LIM domain binding 3 HGNC:15710 10q22.3-q23.2 Cardiomyopathy
LDLR low density lipoprotein receptor HGNC:6547 19p13.2 Familial hypercholesterolemia
LMNA lamin A/C HGNC:6636 1q22 Cardiomyopathy
MYBPC3 myosin binding protein C, cardiac HGNC:7551 11p11.2 Cardiomyopathy
MYH6 myosin, heavy chain 6, cardiac muscle, alpha HGNC:7576 14q11.2-q13 Cardiomyopathy
MYH7 myosin, heavy chain 7, cardiac muscle, beta HGNC:7577 14q11.2-q13 Cardiomyopathy
MYL2 myosin, light chain 2, regulatory, cardiac, slow HGNC:7583 12q24.11 Cardiomyopathy
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow HGNC:7584 3p Cardiomyopathy
MYLK2 myosin light chain kinase 2 HGNC:16243 20q13.31 Cardiomyopathy
MYOM1 myomesin 1 HGNC:7613 18p11.31 Cardiomyopathy
MYOZ2 myozenin 2 HGNC:1330 4q26-q27 Cardiomyopathy
MYPN myopalladin HGNC:23246 10q22.1 Cardiomyopathy
NEBL nebulette HGNC:16932 10p12 Cardiomyopathy
NEXN nexilin (F actin binding protein) HGNC:29557 1p31.1 Cardiomyopathy
NKX2-5 NK2 homeobox 5 HGNC:2488 5q34 Primary hereditary arrythmia
NPPA natriuretic peptide A HGNC:7939 1p36.21 Cardiomyopathy
PCSK9 proprotein convertase subtilisin/kexin type 9 HGNC:20001 1p32.3 Familial hypercholesterolemia
PDLIM3 PDZ and LIM domain 3 HGNC:20767 4q35 Cardiomyopathy
PKP2 plakophilin 2 HGNC:9024 12p11 Cardiomyopathy
PLN phospholamban HGNC:9080 6q22.1 Cardiomyopathy
PRDM16 PR domain containing 16 HGNC:14000 1p36.23-p33 Cardiomyopathy
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit HGNC:9386 7q35-q36 Cardiomyopathy
PSEN1 presenilin 1 HGNC:9508 14q24.3 Cardiomyopathy
PSEN2 presenilin 2 HGNC:9509 1q42.13 Cardiomyopathy
PTPN11 protein tyrosine phosphatase, non-receptor type 11 HGNC:9644 12q24.1 Cardiomyopathy
RAF1 Raf-1 proto-oncogene, serine/threonine kinase HGNC:9829 3p25 Cardiomyopathy
RANGRF RAN guanine nucleotide release factor HGNC:17679 17p13 Primary hereditary arrythmia
RBM20 RNA binding motif protein 20 HGNC:27424 10q25.3 Cardiomyopathy
RYR2 ryanodine receptor 2 (cardiac) HGNC:10484 1q43 Cardiomyopathy
SCN10A sodium channel, voltage gated, type X alpha subunit HGNC:10582 3p22.2 Primary hereditary arrythmia
SCN1B sodium channel, voltage gated, type I beta subunit HGNC:10586 19q13.12 Primary hereditary arrythmia
SCN2B sodium channel, voltage gated, type II beta subunit HGNC:10589 11q23.3 Primary hereditary arrythmia
SCN3B sodium channel, voltage gated, type III beta subunit HGNC:20665 11q24.1 Primary hereditary arrythmia
SCN4B sodium channel, voltage gated, type IV beta subunit HGNC:10592 11q23.3 Primary hereditary arrythmia
SCN5A sodium channel, voltage gated, type V alpha subunit HGNC:10593 3p21 Primary hereditary arrythmia
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) HGNC:10807 5q33-q34 Cardiomyopathy
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 HGNC:10969 5q23.3 Primary hereditary arrythmia
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 HGNC:11068 2p22.1 Primary hereditary arrythmia
SNTA1 syntrophin, alpha 1 HGNC:11167 20q11.2 Primary hereditary arrythmia
TAZ tafazzin HGNC:11577 Xq28 Cardiomyopathy
TBX5 T-box 5 HGNC:11604 12q24.1 Primary hereditary arrythmia
TCAP titin-cap HGNC:11610 17q12 Cardiomyopathy
TGFB3 transforming growth factor, beta 3 HGNC:11769 14q24 Cardiomyopathy
TMEM43 transmembrane protein 43 HGNC:28472 3p25.1 Cardiomyopathy
TMPO thymopoietin HGNC:11875 12q22 Cardiomyopathy
TNNC1 troponin C type 1 (slow) HGNC:11943 3p21.1 Cardiomyopathy
TNNI3 troponin I type 3 (cardiac) HGNC:11947 19q13.4 Cardiomyopathy
TNNT2 troponin T type 2 (cardiac) HGNC:11949 1q32 Cardiomyopathy
TPM1 tropomyosin 1 (alpha) HGNC:12010 15q22.1 Cardiomyopathy
TRDN triadin HGNC:12261 6q22.31 Primary hereditary arrythmia
TRPM4 transient receptor potential cation channel, subfamily M, member 4 HGNC:17993 19q13.3 Primary hereditary arrythmia
TTN titin HGNC:12403 2q31 Cardiomyopathy
TTR transthyretin HGNC:12405 18q12.1 Amyloidosis
VCL vinculin HGNC:12665 10q22.1-q23 Cardiomyopathy