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 heart panel version 2", 2014-09-04.

Filter 
Gene symbol Gene name Disease panel
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 heart:primary hereditary arrythmia, SQTS, ERS
ACTA2 actin, alpha 2, smooth muscle, aorta heart
ACTC1 actin, alpha, cardiac muscle 1 heart: cardiomyopathy, FDC, HCM
ACTN2 actinin, alpha 2 heart
AKAP9 A kinase (PRKA) anchor protein 9 heart: Primary hereditary arrythmia, LQTS
ANK2 ankyrin 2, neuronal heart: Primary hereditary arrythmia, LQTS
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) heart:Cardiomyopathy, DCM, HCM
APOB apolipoprotein B heart
BAG3 BCL2-associated athanogene 3 heart: Cardiomyopathy, FDC
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit heart: Primary hereditary arrythmia, LQTS, SQTS, BrS, ERS
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 heart: Primary hereditary arrythmia, BrS
CACNB2 calcium channel, voltage-dependent, beta 2 subunit heart: Primary hereditary arrythmia, SQTS, BrS, ERS
CALM1 calmodulin 1 (phosphorylase kinase, delta) heart: Primary hereditary arrythmia, CPVT
CALM2 calmodulin 2 (phosphorylase kinase, delta) heart: Primary hereditary arrythmia, CPVT
CALM3 calmodulin 3 (phosphorylase kinase, delta) heart: Primary hereditary arrythmia, CPVT
CALR3 calreticulin 3 heart
CASQ2 calsequestrin 2 (cardiac muscle) heart: Primary hereditary arrythmia, CPVT
CAV3 caveolin 3 heart: Primary hereditary arrythmia, LQTS
CBS cystathionine-beta-synthase heart
CRYAB crystallin, alpha B heart
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) heart: Cardiomyopathy, FDC
CTF1 cardiotrophin 1 heart
DES desmin heart: Cardiomypathy, FDC
DMD dystrophin heart: Cardiomyopathy, FDC
DSC2 desmocollin 2 heart: Cardiomyopathy, ARVC
DSG2 desmoglein 2 heart: Cardiomyopathy, ARVC
DSP desmoplakin heart: Cardiomyopathy
DTNA dystrobrevin, alpha heart
EMD emerin heart
EYA4 eyes absent homolog 4 (Drosophila) heart
FBN1 fibrillin 1 heart: Thoracic aorta dilation
FBN2 fibrillin 2 heart
FHL1 four and a half LIM domains 1 heart
FKTN fukutin heart
FXN frataxin heart
GATA4 GATA binding protein 4 heart
GJA5 gap junction protein, alpha 5, 40kDa heart
GLA galactosidase, alpha heart
GPD1L glycerol-3-phosphate dehydrogenase 1-like heart
HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 heart
ILK integrin-linked kinase heart
JAG1 jagged 1 heart
JPH2 junctophilin 2 heart: Cardiomyopathy, HCM
JUP junction plakoglobin heart: Cardiomyopathy
KCNA5 potassium voltage-gated channel, shaker-related subfamily, member 5 heart
KCND3 potassium voltage-gated channel, Shal-related subfamily, member 3 heart: Primary hereditary arrythmia
KCNE1 potassium voltage-gated channel, Isk-related family, member 1 heart: Primary hereditary arrythmia, LQTS, BrS
KCNE1L KCNE1-like heart: Primary hereditary arrythmia, LQTS
KCNE2 potassium voltage-gated channel, Isk-related family, member 2 heart: Primary hereditary arrythmia, BrS
KCNE3 potassium voltage-gated channel, Isk-related family, member 3 heart
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 heart: Primary hereditary arrythmia, LQTS
KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 heart: Primary hereditary arrythmia, LQTS, SQTS
KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 heart
KCNJ8 potassium inwardly-rectifying channel, subfamily J, member 8 heart
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 heart: Primary hereditary arrythmia, LQTS, SQTS
KLF10 Kruppel-like factor 10 heart
LAMA4 laminin, alpha 4 heart
LAMP2 lysosomal-associated membrane protein 2 heart
LDB3 LIM domain binding 3 heart
LDLR low density lipoprotein receptor heart
LMNA lamin A/C heart: Primary hereditary arrythmia, PCCD
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) heart
MYBPC3 myosin binding protein C, cardiac heart : Cardiomyopathy, FDC, HCM
MYH6 myosin, heavy chain 6, cardiac muscle, alpha heart: Cardiomyopathy, FDC, HCM
MYH7 myosin, heavy chain 7, cardiac muscle, beta heart: Cardiomyopathy, FDC, HCM
MYL2 myosin, light chain 2, regulatory, cardiac, slow heart: Cardiomyopathy, FDC, HCM
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow heart: Cardiomyopathy, FDC, HCM
MYLK2 myosin light chain kinase 2 heart
MYOM1 myomesin 1 heart
MYOZ2 myozenin 2 heart
MYPN myopalladin heart
NEBL nebulette heart
NEXN nexilin (F actin binding protein) heart
NKX2-5 NK2 homeobox 5 heart
NOTCH1 notch 1 heart
NPPA natriuretic peptide A heart: Cardiomyopathy, FDC
PCSK9 proprotein convertase subtilisin/kexin type 9 heart
PDLIM3 PDZ and LIM domain 3 heart
PKP2 plakophilin 2 heart: Cardiomyopathy
PLN phospholamban heart: Cardiomyopathy, FDC, HCM
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit heart: Cardiomyopathy, HCM
PSEN1 presenilin 1 heart
PSEN2 presenilin 2 heart
PTPN11 protein tyrosine phosphatase, non-receptor type 11 heart: Cardiomyopathy, HCM
RAF1 v-raf-1 murine leukemia viral oncogene homolog 1 heart: Cardiomyopathy, HCM
RANGRF RAN guanine nucleotide release factor heart
RBM20 RNA binding motif protein 20 heart: DCM
RYR2 ryanodine receptor 2 (cardiac) heart: Cardiomyopathy, ARVC
SCN1B sodium channel, voltage-gated, type I, beta subunit heart: Primary hereditary arrythmia, BrS
SCN3B sodium channel, voltage-gated, type III, beta subunit heart: Primary hereditary arrythmia, BrS
SCN4B sodium channel, voltage-gated, type IV, beta subunit heart: Primary hereditary arrythmia, LQTS, BrS
SCN5A sodium channel, voltage-gated, type V, alpha subunit heart: Primary hereditary arrythmia, , LQTS, BrS, ERS, PCCD
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) heart: Cardiomyopathy, FDC, HCM
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 heart
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 heart
SMAD3 SMAD family member 3 heart
SNTA1 syntrophin, alpha 1 heart: Primary hereditary arrythmia, LQTS
TAZ tafazzin heart: Cardiomyopathy, FDC
TBX1 T-box 1 heart
TBX5 T-box 5 heart
TCAP titin-cap heart: Cardiomyopathy, FDC, HCM
TGFB3 transforming growth factor, beta 3 heart
TGFBR1 transforming growth factor, beta receptor 1 heart: Thoracic aorta dilation
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) heart: Thoracic aorta dilation
TMEM43 transmembrane protein 43 heart: Cardiomyopathy, ARVC
TMPO thymopoietin heart
TNNC1 troponin C type 1 (slow) heart: Cardiomyopathy, FDC
TNNI3 troponin I type 3 (cardiac) heart: Cardiomyopathy, FDC, HCM
TNNT2 troponin T type 2 (cardiac) heart: Cardiomyopathy, FDC, HCM
TPM1 tropomyosin 1 (alpha) heart: Cardiomyopathy, FDC, HCM
TRDN triadin heart
TTN titin heart: Cardiomyopathy, FDC
TTR transthyretin heart
TXNRD2 thioredoxin reductase 2 heart
VCL vinculin heart