Supplementary material J Med Genet
Genepanel mitochondrial diseases Genepanel paediatric cardiomyopathy AARS2 AARS2 ABAT ABCC6 ACAD9 ABCC9 ACO2 ACAD8 AFG3L2 ACAD9 AGK ACADS AIFM1 ACADVL ALDH1B1 ACTA1 ANO10 ACTC1 APOPT1 ACTN2 APTX ADCY5 ATAD3A AGK ATAD3B AGL ATP13A2 AGPAT2 ATP5F1A AHCY ATP5F1B AIP ATP5F1C ALG1 ATP5F1D ALG6 ATP5F1E ALMS1 ATP5IF1 ALPK3 ATP5MC1 ANKRD1 ATP5MC2 ANKRD11 ATP5MC3 ANKS6 ATP5ME ANO5 ATP5MF APOPT1 ATP5MG ARSB ATP5MGL ASNA1 ATP5PB ATP5E ATP5PD ATP6V1B2 ATP5PF ATPAF2 ATP5PO BAG3 ATP5S BBS2 ATPAF1 BCS1L ATPAF2 BOLA3 BCS1L BRAF BOLA1 BRCA2 BOLA2 BRCC3 BOLA3 BRIP1 C12orf65 BSCL2 C19orf12 C10ORF2 C19orf70 CALR3 C1QBP CASQ1 CA5A CAV1 CARS2 CAV3 CEP89 CDKN1C CHCHD10 CHKB CHKB CHRM2 CLPB CISD2 CLPP COA5
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
COA1 COA6 COA3 COG7 COA5 COL7A1 COA6 COQ2 COA7 COQ4 COASY COX10 COQ2 COX14 COQ4 COX20 COQ5 COX6B1 COQ6 COX7B COQ7 CPT1A COQ8A CPT2 COQ8B CRYAB COQ9 CSRP3 COX10 CTNNA3 COX14 D2HGDH COX15 DCAF8 COX20 DCHS1 COX4I1 DES COX4I2 DLD COX5A DMD COX5B DMPK COX6A1 DNAJC19 COX6A2 DOLK COX6B1 DPM3 COX6B2 DSC2 COX6C DSG2 COX7A1 DSP COX7A2 DTNA COX7B DYSF COX7B2 ELAC2 COX7C EMD COX8A ENPP1 COX8C EPG5 CP ERBB3 CTBP1 ERCC4 CYC1 EYA4 CYCS FAH DARS2 FANCA DCAF17 FANCB DDHD1 FANCC DES FANCD2 DGUOK FANCE DHTKD1 FANCF DLAT FANCG DLD FANCI DLST FANCL DMAC1 FANCM DMAC2 FASTKD2 DNA2 FBN1
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
DNAJC19 FBXL4 DNAJC3 FHL1 DNM1L FHL2 EARS2 FIG4 ECHS1 FKRP ECSIT FKTN EHHADH FLNA ELAC2 FLNC ERAL1 FOS ETHE1 FOXD4 FA2H FOXRED1 FARS2 FTO FASTKD2 FXN FBXL4 GAA FDX2 GATA4 FDXR GATAD1 FH GATB FOXRED1 GATC FTL GBE1 FXN GJA5 GARS GLA GATB GLB1 GATC GMPPB GATM GNAS GFER GNPTAB GFM1 GNS GFM2 GPC3 GLRX5 GPR101 GLUD1 GSN GTPBP2 GTPBP3 GTPBP3 GYS1 HARS2 HADH HCCS HADHA HIBCH HADHB HLCS HAMP HSD17B10 HBB HSPA9 HCCS HSPD1 HCN4 HTRA2 HFE IARS2 HFE2 IBA57 HGSNAT ISCA2 HPS1 ISCU HRAS KARS HSD17B10 LACTB HSPB6 LARS2 IDH2 LIAS IDUA LIPT1 IGF2 LIPT2 ILK LONP1 ISL1
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
LRPPRC ITGB1BP2 LYRM4 JPH2 LYRM7 JUP MARS2 KCNH1 MCUR1 KCNH2 MDH2 KIF20A MECR KLF1 MFF KRAS MFN2 LAMA4 MGME1 LAMP2 MICU1 LDB3 MICU2 LIAS MIEF2 LMNA MIPEP MAP2K1 MPC1 MAP2K2 MPV17 MGME1 MRM2 MIB1 MRPL12 MLYCD MRPL3 MRPL3 MRPL40 MRPL44 MRPL44 MRPS22 MRPL57 MTCP1 MRPS16 MTO1 MRPS2 MURC MRPS22 MUT MRPS23 MYBPC3 MRPS34 MYH6 MRPS7 MYH7 MRRF MYL2 MSTO1 MYL3 MTFMT MYLK2 MTO1 MYOT MTPAP MYOZ1 NARS2 MYOZ2 NAXE MYPN NDUFA1 NAGA NDUFA10 NAGLU NDUFA11 NDUFA1 NDUFA12 NDUFA11 NDUFA13 NDUFAF1 NDUFA2 NDUFAF2 NDUFA3 NDUFAF3 NDUFA4 NDUFAF4 NDUFA5 NDUFAF5 NDUFA6 NDUFB11 NDUFA7 NDUFB3 NDUFA8 NDUFB9 NDUFA9 NDUFS1 NDUFAB1 NDUFS2 NDUFAF1 NDUFS3
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
NDUFAF2 NDUFS4 NDUFAF3 NDUFS6 NDUFAF4 NDUFV1 NDUFAF5 NDUFV2 NDUFAF6 NEBL NDUFAF7 NEU1 NDUFB1 NEXN NDUFB10 NF1 NDUFB11 NKX2-5 NDUFB2 NPPA NDUFB3 NRAS NDUFB4 NSD1 NDUFB5 NUBPL NDUFB6 PALB2 NDUFB7 PCCA NDUFB8 PCCB NDUFB9 PDGFRA NDUFC1 PDLIM3 NDUFC2 PET100 NDUFS1 PEX1 NDUFS2 PEX10 NDUFS3 PEX11B NDUFS4 PEX12 NDUFS5 PEX13 NDUFS6 PEX14 NDUFS7 PEX16 NDUFS8 PEX19 NDUFV1 PEX2 NDUFV2 PEX26 NDUFV3 PEX3 NFS1 PEX5 NFU1 PEX6 NSUN3 PEX7 NUBPL PGM1 OGDH PHYH OPA1 PIGT OPA3 PKP2 OXA1L PLEC PANK2 PLEKHM2 PARS2 PLN PC PMM2 PDHA1 PNPLA2 PDHB POLG PDHX POMT1 PDK1 POU1F1 PDK2 PPARG PDK3 PRDM16 PDK4 PRKAG2 PDP1 PRPS1 PDSS1 PSEN1
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
PDSS2 PSEN2 PET100 PTPN11 PET117 QRSL1 PIGA RAB3GAP2 PITRM1 RAD51C PMPCA RAF1 PMPCB RBCK1 PNPT1 RBM20 POLG RET POLG2 RIT1 PPA2 RMND1 PRKAA1 RYR2 PTRH2 SCARB2 PUS1 SCN5A PYCR1 SCO1 PYCR2 SCO2 QRSL1 SDHA RARS2 SDHAF1 RMND1 SDHD RNASEH1 SEPN1 RRM2B SGCA RTN4IP1 SGCB SACS SGCD SAMHD1 SGSH SARS2 SHOC2 SCO1 SKI SCO2 SLC19A2 SCP2 SLC22A5 SDHA SLC25A20 SDHAF1 SLC25A3 SDHB SLC25A4 SDHD SLC2A10 SERAC1 SLX4 SFXN4 SNAP29 SLC19A2 SOD2 SLC19A3 SOS1 SLC25A1 SPEG SLC25A10 SYNE1 SLC25A12 SYNE2 SLC25A13 TACO1 SLC25A19 TAZ SLC25A21 TBX20 SLC25A22 TCAP SLC25A24 TERT SLC25A3 TGFB1 SLC25A32 TGFB3 SLC25A4 TMEM126A SLC25A42 TMEM43 SLC25A46 TMEM70 SLC39A8 TMPO
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
SLC52A2 TNNC1 SLC52A3 TNNI3 SPART TNNI3K SPATA5 TNNT2 SPG7 TPI1 SQSTM1 TPM1 STAT2 TPM3 STXBP1 TRNT1 SUCLA2 TSFM SUCLG1 TTN SUCLG2 TTPA SURF1 TTR TACO1 TXNRD2 TANGO2 UBE2T TARS2 UBR1 TAZ VCL THG1L VPS13A TIMM44 WFS1 TIMM50 XK TIMM8A XPNPEP3 TIMMDC1 YARS2 TK2 TMEM126A TMEM126B TMEM186 TMEM65 TMEM70 TPK1 TRIT1 TRMT10C TRMT5 TRMU TRNT1 TSFM TTC19 TUFM TWNK TXN2 TYMP UQCC1 UQCC2 UQCC3 UQCR10 UQCR11 UQCRB UQCRC1 UQCRC2 UQCRFS1 UQCRH UQCRQ
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
VARS2 VPS13D WARS2 WDR45 YARS2 YME1L1
Supplemental Table 1. Likely pathogenic or pathogenic variants in these genes were excluded in patient X:1. Of note, there is some overlap between both panels.
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330 Supplementary material J Med Genet
X:1.
Almomani R, et al. J Med Genet 2019; 0:1–8. doi: 10.1136/jmedgenet-2019-106330