Sudden Cardiac Death Precision Panel
Sudden Cardiac Death (SCD) is an unexpected death due to cardiac causes that takes place in a short time period in a person with known or unknown underlying cardiac disease.

The clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ABCA12 | Ichthyosis Congenita | AR | 100 | 151 of 153 |
ABCC6 | Generalized Arterial | AD,AR | 99 | 346 of 349 |
ABCG5 | Homozygous Familial |
| 99.81 | 57 of 57 |
ABCG8 | Homozygous Familial | AR,MU,P | 100 | 64 of 64 |
ACAD9 | Familial Acyl-CoA | AR | 100 | 62 of 62 |
ACADL | Long Chain Acyl-CoA |
| 100 | 1 of 1 |
ACADVL | Acyl-CoA Dehydrogenase | AR | 100 | 329 of 329 |
AKAP10 | Cardiac Conduction Defect, | AD | 92.93 | 1 of 1 |
AKAP9 | Long Qt Syndrome, Brugada | AD | 98.34 | 43 of 46 |
AKT1 | Proteus Syndrome, Cowden | AD | 100 | 6 of 6 |
ALG10B | Long Qt Syndrome | AD | 99.97 | 2 of 2 |
ANK2 | Cardiac Arrhythmia, | AD | 99.98 | 130 of 130 |
APOB | Familial | AD,AR | 99.62 | 369 of 375 |
BAZ1B | Williams Syndrome |
| 99.05 | 5 of 5 |
CACNA1C | Brugada Syndrome, | AD | 99.8 | 85 of 85 |
CACNA2D1 | Brugada Syndrome, |
| 99.96 | 12 of 12 |
CALM1 | Long Qt Syndrome, | AD | 100 | 12 of 12 |
CALM2 | Long Qt Syndrome, | AD | 98.71 | 11 of 11 |
CALM3 | Long Qt Syndrome, | AD | 100 | 5 of 5 |
CASQ2 | Catecholaminergic | AD,AR | 100 | 39 of 40 |
CAV3 | Familial Hypertrophic | AD | 100 | 50 of 50 |
CLCF1 | Cold-Induced Sweating | AR | 100 | 4 of 4 |
CLIP2 | Williams Syndrome |
| 99.99 | 1 of 1 |
CPT1A | Carnitine | AR | 100 | 50 of 50 |
CRLF1 | Cold-Induced Sweating | AR | 91.53 | 31 of 33 |
CSRP3 | Dilated Cardiomyopathy, | AD | 100 | 36 of 36 |
DES | Dilated Cardiomyopathy, | AD,AR | 99.97 | 133 of 134 |
DNAJC19 | 3-a Methylglutaconic | AR | 100 | 6 of 6 |
DPP6 | Familial Paroxismal | AD | 97.03 | 23 of 28 |
DSC2 | Familial Arrhythmogenic | AD,AR | 100 | 123 of 124 |
DSG2 | Familial Arrhythmogenic | AD | 99.38 | 167 of 169 |
DSP | Familial Arrhythmogenic | AD,AR | 99.91 | 366 of 369 |
DTNA | Left Ventricular | AD | 97 | 10 of 10 |
ELN | Supravalvular Aortic Stenosis, | AD | 99.99 | 95 of 96 |
EMD | X-linked Emery-Dreifuss | X,XR,G | 99.92 | NA of NA |
ENPP1 | Generalized Arterial | AD,AR,MU,P | 96.59 | 73 of 75 |
EYA4 | Dilated Cardiomyopathy | AD | 100 | 32 of 32 |
FHL1 | X-Linked Reducing | X,XR,XD,G | 99.98 | NA of NA |
GNAI2 | Familial Ventricular | AD | 100 | 3 of 3 |
GPD1L | Brugada Syndrome | AD | 100 | 14 of 14 |
GTF2I | Williams Syndrome |
| 63.79 | NA of NA |
GTF2IRD1 | Williams Syndrome |
| 99.98 | 1 of 1 |
HLA-B | Takayasu Arteritis | MU | 99.55 | 1 of 1 |
IKZF1 | Common Variable | AD | 99.98 | 43 of 43 |
JUP | Familial | AD,AR | 100 | 56 of 56 |
KCNE1 | Jervell And Lange-Nielsen | AD,AR | 100 | 53 of 53 |
KCNE2 | Familial Atrial Fibrillation, | AD | 100 | 23 of 24 |
KCNH2 | Long QT Syndrome, | AD | 98.69 | 908 of 930 |
KCNJ2 | Andersen | AD | 100 | 93 of 93 |
KCNJ5 | Long QT Syndrome, | AD | 99.52 | 21 of 21 |
KCNQ1 | Familial Atrial | AD,AR | 93.23 | 600 of 624 |
LDB3 | Dilated Cardiomyopathy | AD | 100 | 60 of 60 |
LDLR | Homozygous Familial | AD | 99.89 | 1921 of 1996 |
LDLRAP1 | Familial | AR | 91.83 | 18 of 27 |
LIMK1 | Williams Syndrome |
| 100 | 2 of 2 |
LMNA | Dilated Cardiomyopathy, | AD,AR | 100 | 619 of 620 |
LRP6 | Autosomal Dominant | AD | 100 | 44 of 44 |
MYH7 | Dilated Cardiomyopathy, | AD,AR | 99.95 | 1053 of 1054 |
MYL2 | Familial Hypertrophic | AD | 100 | 67 of 67 |
MYL3 | Familial Hypertrophic | AD,AR | 100 | 42 of 42 |
NOS1AP | Romano-Ward |
| 100 | 4 of 4 |
PCSK9 | Familial | AD | 100 | 96 of 98 |
PKP2 | Familial Arrhythmogenic | AD | 100 | 306 of 307 |
PPA2 | Alcohol-Induced Sudden | AR | 99.95 | 9 of 9 |
PRKAG2 | Familial Hypertrophic | AD | 99.98 | 61 of 61 |
PTEN | Bannayan-Riley- | AD | 99.97 | 609 of 629 |
PTPN22 | Insulin-Dependent | AD | 99.67 | 5 of 5 |
RBM20 | Familial Isolated | AD | 96.83 | 73 of 75 |
RFC2 | Williams Syndrome |
| 100 | 3 of 3 |
RYR2 | Familial Arrhythmogenic | AD | 99.2 | 466 of 472 |
SCN10A | Brugada Syndrome, | AD | 99.89 | 96 of 96 |
SCN4B | Long QT Syndrome, | AD | 100 | 11 of 11 |
SCN5A | Familial Atrial | AD,AR,MU | 99.45 | 929 of 942 |
SNTA1 | Long QT Syndrome, | AD | 95.66 | 18 of 18 |
SYNE1 | Emery-Dreifuss | AD,AR | 99.99 | 193 of 193 |
SYNE2 | Emery-Dreifuss | AD | 99.94 | 12 of 12 |
TBL2 | Williams Syndrome |
| 96.14 | NA of NA |
TECRL | Catecholaminergic | AR | 99.48 | 4 of 4 |
TGFB3 | Familial | AD | 100 | 34 of 35 |
TMEM43 | Familial | AD | 99.98 | 26 of 26 |
TNNI3 | Dilated | AD,AR | 100 | 139 of 139 |
TRDN | Catecholaminergic Polymorphic | AD,AR | 98.72 | 10 of 12 |
WAS | Wiskott-Aldrich | X,XR,G | 100 | NA of NA |
WIPF1 | Wiskott-Aldrich | AR | 99.79 | 3 of 3 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
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