MOMA Next-generation sequencing Gene Panels


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 hereditary cancer-panel version 1" and "MOMA heart panel version 1", 2013-09-01.

Gene symbol Gene name HGNC ID location Disease panel
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 HGNC:60 12p12.1 heart
ACTA2 actin, alpha 2, smooth muscle, aorta HGNC:130 10q23.31 heart
ACTC1 actin, alpha, cardiac muscle 1 HGNC:143 15q14 heart
ACTN2 actinin, alpha 2 HGNC:164 1q42-q43 heart
AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 HGNC:379 7q21-q22 heart
ANK2 ankyrin 2, neuronal HGNC:493 4q25-q26 heart
APOB apolipoprotein B HGNC:603 2p24-p23 heart
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit HGNC:1390 12p13.3 heart
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit HGNC:1394 17q22 heart
CACNB2 calcium channel, voltage-dependent, beta 2 subunit HGNC:1402 10p12 heart
CALM1 calmodulin 1 (phosphorylase kinase, delta) HGNC:1442 14q32.11 heart
CALR3 calreticulin 3 HGNC:20407 19p13.11 heart
CASQ2 calsequestrin 2 (cardiac muscle) HGNC:1513 1p13.1 heart
CAV3 caveolin 3 HGNC:1529 3p25 heart
CBS cystathionine-beta-synthase HGNC:1550 21q22.3 heart
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) HGNC:2472 11p15.1 heart
CTF1 cardiotrophin 1 HGNC:2499 16p11.2 heart
DES desmin HGNC:2770 2q35 heart
DSC2 desmocollin 2 HGNC:3036 18q12.1 heart
DSG2 desmoglein 2 HGNC:3049 18q12.1 heart
DSP desmoplakin HGNC:3052 6pter-p21 heart
DTNA dystrobrevin, alpha HGNC:3057 18q12 heart
EYA4 eyes absent homolog 4 (Drosophila) HGNC:3522 6q23 heart
FBN1 fibrillin 1 HGNC:3603 15q21.1 heart
FKTN fukutin HGNC:3622 9q31-q33 heart
GJA5 gap junction protein, alpha 5, 40kDa HGNC:4279 1q21.1 heart
GLA galactosidase, alpha HGNC:4296 Xq21.3-q22 heart
GPD1L glycerol-3-phosphate dehydrogenase 1-like HGNC:28956 3p22.3 heart
JPH2 junctophilin 2 HGNC:14202 20q12-q13.11 heart
JUP junction plakoglobin HGNC:6207 17q21 heart
KCNA5 potassium voltage-gated channel, shaker-related subfamily, member 5 HGNC:6224 12p13 heart
KCNE1 potassium voltage-gated channel, Isk-related family, member 1 HGNC:6240 21q22.1-q22.2 heart
KCNE2 potassium voltage-gated channel, Isk-related family, member 2 HGNC:6242 21q22.1 heart
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 HGNC:6251 7q36.1 heart
KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 HGNC:6263 17q24.3 heart
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 HGNC:6294 11p15.5 heart
KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4 HGNC:6298 1p34 heart
LAMP2 lysosomal-associated membrane protein 2 HGNC:6501 Xq24-q25 heart
LDB3 LIM domain binding 3 HGNC:15710 10q22.3-q23.2 heart
LDLR low density lipoprotein receptor HGNC:6547 19p13.2 heart
LMNA lamin A/C HGNC:6636 1q22 heart
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) HGNC:7436 1p36.3 heart
MYBPC3 myosin binding protein C, cardiac HGNC:7551 11p11.2 heart
MYH6 myosin, heavy chain 6, cardiac muscle, alpha HGNC:7576 14q11.2-q13 heart
MYH7 myosin, heavy chain 7, cardiac muscle, beta HGNC:7577 14q11.2-q13 heart
MYL2 myosin, light chain 2, regulatory, cardiac, slow HGNC:7583 12q24.11 heart
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow HGNC:7584 3p heart
MYOZ2 myozenin 2 HGNC:1330 4q26-q27 heart
NEXN nexilin (F actin binding protein) HGNC:29557 1p31.1 heart
NPPA natriuretic peptide A HGNC:7939 1p36.21 heart
PCSK9 proprotein convertase subtilisin/kexin type 9 HGNC:20001 1p34.1-p32 heart
PKP2 plakophilin 2 HGNC:9024 12p11 heart
PLN phospholamban HGNC:9080 6q22.1 heart
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit HGNC:9386 7q35-q36 heart
RBM20 RNA binding motif protein 20 HGNC:27424 10q25.3 heart
RYR2 ryanodine receptor 2 (cardiac) HGNC:10484 1q43 heart
SCN1B sodium channel, voltage-gated, type I, beta subunit HGNC:10586 19 heart
SCN4B sodium channel, voltage-gated, type IV, beta subunit HGNC:10592 11q23.3 heart
SCN5A sodium channel, voltage-gated, type V, alpha subunit HGNC:10593 3p21 heart
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) HGNC:10807 5q33-q34 heart
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 HGNC:10990 4q35 heart
SNTA1 syntrophin, alpha 1 HGNC:11167 20q11.2 heart
TAZ tafazzin HGNC:11577 Xq28 heart
TCAP titin-cap HGNC:11610 17q12 heart
TGFB3 transforming growth factor, beta 3 HGNC:11769 14q24 heart
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) HGNC:11773 3p22 heart
TMEM43 transmembrane protein 43 HGNC:28472 3p25.1 heart
TMPO thymopoietin HGNC:11875 12q22 heart
TNNC1 troponin C type 1 (slow) HGNC:11943 3p21.1 heart
TNNI3 troponin I type 3 (cardiac) HGNC:11947 19q13.4 heart
TNNT2 troponin T type 2 (cardiac) HGNC:11949 1q32 heart
TPM1 tropomyosin 1 (alpha) HGNC:12010 15q22.1 heart
TTN titin HGNC:12403 2q31 heart
TTR transthyretin HGNC:12405 18q12.1 heart
VCL vinculin HGNC:12665 10q22.1-q23 heart