Table 2 Summary of all genes covered by the panel

AGK

AGL

AGRN

ALDOA

ALG13

ALG14

ALG2

ANO5

ATP2A1

ATP5F1A

B3GALNT2

B4GAT1

BAG3

BIN1

CACNA1A

CACNA1S

CAPN3

CAV3

CAVIN1

CCDC78

CFL2

CHAT

CHKB

CHRNA1

CHRNB1

CHRND

CHRNE

CHRNG

CHST14

CLCN1

CNTN1

COL12A1

COL13A1

COL6A1

COL6A2

COL6A3

COLQ

COQ2

COQ4

COQ6

COQ7

COQ8A

COQ9

CPT1A

CPT2

CRYAB

DAG1

DES

DGUOK

DMD

DNA2

DNAJB6

DNM2

DOK7

DOLK

DPAGT1

DPM1

DPM2

DYSF

ECEL1

ELP1

EMD

ENO3

ETFA

ETFB

ETFDH

ETHE1

FBXL4

FHL1

FKBP14

FKRP

FKTN

FLNA

FLNC

G6PC

GAA

GBE1

GFPT1

GMPPB

GNE

GYG1

GYS1

HACD1

HADH

HADHA

HADHB

HNRNPA1

HNRNPA2B1

HNRNPDL

HSPG2

IGHMBP2

ISCU

ISPD

ITGA7

ITGA9

KBTBD13

KCNA1

KCNE3

KCNE4

KCNH2

KCNJ16

KCNJ2

KCNQ1

KIF21A

KLHL40

KLHL41

KLHL9

LAMA2

LAMB2

LAMP2

LARGE1

LDB3

LDHA

LMNA

LMOD3

LPIN1

LRP4

MAMLD1

MATR3

MEGF10

MGME1

MLYCD

MPV17

MSTN

MTM1

MTMR14

MTTP

MUSK

MYBPC1

MYBPC3

MYF6

MYH14

MYH2

MYH3

MYH7

MYH8

MYLK2

MYO9A

MYOT

NDUFB3

NEB

OPA1

PABPN1

PDSS1

PDSS2

PFKM

PGAM2

PGK1

PGM1

PHKA1

PHOX2A

PIEZO2

PLEC

PLOD1

PLOD2

PLOD3

PMM2

PNPLA2

POLG

POLG2

POMGNT1

POMGNT2

POMK

POMT1

POMT2

PREPL

PRKAG2

PUS1

PYGM

RAPSN

RBCK1

RRM2B

RXYLT1

RYR1

SCN4A

SCN5A

SELENON

SGCA

SGCB

SGCD

SGCE

SGCG

SIL1

SLC16A2

SLC22A5

SLC25A1

SLC25A20

SLC25A4

SLC37A4

SLC3A1

SLC5A7

SNAP25

SPAST

SPEG

STIM1

SUCLA2

SUCLG1

SYNE1

SYNE2

SYT2

TCAP

TIA1

TK2

TMEM43

TNNI2

TNNT1

TNNT3

TNPO3

TOR1A

TOR1AIP1

TPM2

TPM3

TRAPPC11

TRIM32

TTN

TTR

TUBB3

TWNK

TYMP

VCP

VPS13A

XK

YARS2

ZBTB42

ZC4H2