Gene | Cases (n) | Gene | Cases (n) |
TTN | 8 | CACNA1S | 1 |
TNNI2 | 7 | CHANB1 | 1 |
BICD2 | 6 | FBN2 | 1 |
NEB | 5 | FLNC1 | 1 |
CHRNG | 4 | GBE1 | 1 |
COL6A1 | 4 | GLDN* | 1 |
MYH3 | 4 | KLHL40 | 1 |
ECEL1 | 3 | MYL1* | 1 |
MAGEL2 | 3 | MYO18B | 1 |
PIEZO2 | 3 | NUP88* | 1 |
TPM2 | 3 | RAPSN | 1 |
TRPV4 | 3 | RYR1 | 1 |
ZC4H2 | 3 | SMPD4* | 1 |
ACTA1 | 2 | STAC3 | 1 |
DYNC1H1 | 2 | TNNT3 | 1 |
GMPPB | 2 | ||
NALCN | 2 | ||
SCN4A | 2 |
Genes in bold denote genes that were added into version 2 or version 3 of the panel. Genes tagged with an ‘*’ represent the novel human disease genes identified by WES (ie, not on versions 1–3 of the panel).
WES, whole exome sequencing.