From: Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity
 |  | Non-radical variants | Radical variants |  | ||||
---|---|---|---|---|---|---|---|---|
Gene | Syndrome | Burden in | Burden in | Prior | Burden in | Burden in | Prior | Case burden in literature |
 |  | case series | controls | odds | case series | controls | odds | (combined radical and |
 |  |  |  |  |  |  |  | non-radical variants) |
KCNQ1 | LQTS | 0.1784 | 0.0039 | 45 | 0.0384 | 0.0002 | 191 | 0.421 |
KCNH2 | LQTS | 0.1256 | 0.0048 | 25 | 0.0392 | 0 | 195 | 0.388 |
SCN5A | LQTS | 0.0584 | 0.0112 | 4 | 0.0028 | 0.0002 | 13 | 0.090 |
KCNE1 | LQTS | 0.0124 | 0.0014 | 8 | 0.0020 | 0 | 9 | 0.010 |
KCNE2 | LQTS | 0.0052 | 0.0011 | 4 | 0.0004 | 0.0002 | 1 | 0.010 |
KCNJ2 | LQTS | Â | 0.0026 | 0.92 | Â | 0 | 0.2 | 0.010 |
ANK2 | LQTS | Â | 0.0386 | 0.2 | Â | 0 | 0.2 | 0.010 |
CACNA1C | LQTS | Â | 0.0112 | 0.2 | Â | 0 | 0.2 | 0.010 |
CAV3 | LQTS | Â | 0.0011 | 4 | Â | 0.0002 | 0.2 | 0.010 |
SCN4B | LQTS | Â | 0.0017 | 0.2 | Â | 0.0006 | 0.2 | 0.001 |
AKAP9 | LQTS | Â | 0.0393 | 0.2 | Â | 0.0005 | 0.2 | 0.001 |
SNTA1 | LQTS | Â | 0.0043 | 0.2 | Â | 0.0003 | 0.2 | 0.001 |
KCNJ5 | LQTS | Â | 0.0045 | 0.2 | Â | 0 | 0.2 | 0.001 |
MYBPC3 | HCM | Â | Â | 37.5 | Â | Â | 37.5 | 0.375 |
MYH7 | HCM | Â | Â | 25 | Â | Â | 25 | 0.250 |
TNNT2 | HCM | Â | Â | 6 | Â | Â | 6 | 0.060 |
TNNI3 | HCM | Â | Â | 6 | Â | Â | 6 | 0.060 |
SCN5A | BrS | Â | Â | 30 | Â | Â | 30 | 0.300 |
CACNA1C | BrS | Â | Â | 1 | Â | Â | 1 | 0.010 |
CACNA2D1 | BrS | Â | Â | 1 | Â | Â | 1 | 0.010 |
CACNB2 | BrS | Â | Â | 1 | Â | Â | 1 | 0.010 |
GPD1L | BrS | Â | Â | 1 | Â | Â | 1 | 0.010 |
KCND3 | BrS | Â | Â | 1 | Â | Â | 1 | 0.010 |
KCNE3 | BrS | Â | Â | 1 | Â | Â | 1 | 0.010 |
SCN1B | BrS | Â | Â | 1 | Â | Â | 1 | 0.010 |
SCN3B | BrS | Â | Â | 1 | Â | Â | 1 | 0.010 |