Combined Oxidative Phosphorylation Defect Type 21

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB, UQCRC2, FBXL4, GFM1, MRPS16, ELAC2, MRPS7, MRPS22, MRPS23, GTPBP3, PUS1, LRPPRC, NDUFAF5, APTX, SFXN4, MGME1, SLC19A3, NFU1, LIAS, MRPL44, COQ8A, MFN2, LARS2, NDUFA13, RRM2B, TPK1, SARS2, PDSS1, COA6, RNASEH1, ATPAF2, NDUFAF1, COQ8B, MTO1, COQ4, ISCA2, COQ6, NUBPL, TRIT1, NDUFA11, NDUFB11, APOPT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, UQCC2, PDHX, LYRM4, RARS2, ACAD9, VARS2, AGK, COQ7, COX10, COX15, COX6A1, COX6B1, COX7B, COX8A, PDSS2, TRMT5, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, COA3, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, CARS2, COA7, CYC1, TTC19, TRMT10C, TMEM70, NSUN3, NARS2, C12orf65, FOXRED1, COX20, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, COQ5, DLAT, DLD, FASTKD2, DNA2, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ISCU, NDUFAF3, PARS2, TARS2, TMEM126B, TYMP, AFG3L2, ECHS1, COA5, SDHAF1, UQCC3, ETFA, ETFB, ETFDH, PET100, GARS, GFER, HADHA, HADHB, HARS2, HIBCH, KARS, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, OPA1, OPA3, ATP5F1A, ATP5F1E, AIFM1, PDHA1, PDHB, POLG, POLG2, PDP1

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC1A4, SLC22A5, SLC25A12, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC6A3, SLC6A5, SLC6A8, KDM5C, SNAP25, SNCA, SIK1, SOX10, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, STAT2, CDKL5, STUB1, STXBP1, SUCLA2, SUCLG1, SURF1, SYNGAP1, SYNJ1, TAF1, TALDO1, TARDBP, TAZ, TBK1, TWNK, TFG, TH, TIMM8A, NKX2-1, TK2, ACOX1, TREX1, TSFM, TTPA, TTR, TUBB2A, TUFM, UBE3A, UBQLN2, UQCRB, UQCRC2, USP8, VAMP1, VCP, WFS1, WWOX, XK, XRCC4, MCOLN1, VPS35, ATP8A2, ERLIN2, FBXO7, FBXL4, AAAS, GFM1, CACNA1A, CACNA1B, CACNA1C, CACNA1G, CACNA1H, PRDM8, ANO3, CACNB4, MRPS16, NPRL3, SLC25A20, CAD, PCDH19, SLC25A19, ELOVL4, MRPS7, ACTG2, MRPS22, NPC2, ARHGEF9, PINK1, VPS11, GTPBP3, SNX14, CASR, MICU1, GPHN, PUS1, CHCHD10, ARHGEF15, NBAS, LRPPRC, BSCL2, ABHD12, PANK2, NDUFAF5, NOP56, PLCB1, SAMHD1, GDAP1, APTX, CCT5, SLC52A3, MGME1, COX4I2, TGM6, SLC19A3, PNPLA6, NFU1, PARK7, NLRP3, EFHC1, SCARB2, MRPL44, MCEE, CIZ1, COQ8A, MFN2, DGAT2, ERLIN1, STAMBP, CLP1, PRICKLE1, EXOSC8, NIPA1, MLC1, SYNE1, LARS2, RAB3GAP2, NDUFA13, BICD2, ZFR, RRM2B, TRNT1, TPK1, GJC2, SARS2, ACY1, PDSS1, TXN2, EXOSC3, REEP2, ARX, SPATA5, PRIMA1, DEPDC5, RNASEH1, SPART, RNASEH2A, STX1B, CPT1C, LRRK2, PMPCA, ATPAF2, NDUFAF1, KCNT1, MMAA, GBA2, COQ8B, VPS13A, CHAT, PSAT1, TTBK2, CHD2, DOCK7, MTO1, MMAB, KIF21A, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, LYST, COQ4, DDHD1, ISCA2, SLC25A22, TECPR2, CHD8, POLR1C, CLCN2, CLCN4, COQ6, NUBPL, TRIT1, PRICKLE2, NDUFA11, NDUFB11, SPG21, SUMF1, MBD5, APOPT1, L2HGDH, CYP2U1, SLC25A26, TPP1, CLN3, CLN5, ZFYVE26, CLN6, TUBB3, TUBB4A, CLN8, CLPP, THAP1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, FA2H, PDHX, ABHD5, RARS2, ACAD9, NHLRC1, VARS2, RNASET2, RNF216, AGK, KCTD7, COL4A1, COL4A2, COL6A3, AP5Z1, PTCD1, COLQ, COQ7, ADAR, COX10, COX15, COX6B1, GMPPB, COX8A, CP, PEX26, PDSS2, SLC13A5, TRMT5, ALG2, PNPT1, UBA5, CPT1A, ETHE1, CPT2, ADCY5, NDUFA12, RNASEH2C, YARS2, PTRH2, TACO1, CSF1R, BOLA3, MMACHC, CHMP2B, FAM126A, SIL1, FLAD1, CSTB, VPS37A, MARS2, SLC25A46, COQ2, COQ9, SLC30A10, TMEM126A, TANGO2, C19orf12, TRMU, ANO10, MTPAP, DARS2, RNASEH2B, CARS2, KCTD17, PGAP1, DCAF17, REEP1, RETREG1, TTC19, SDHAF2, CYP27A1, TMEM70, SLC25A38, NARS2, HEPACAM, CYP7B1, ZFYVE27, DOK7, C12orf65, FOXRED1, DBT, IBA57, TSEN54, SLC6A19, LYRM7, NDUFAF2, CCDC115, COX14, ALG14, SLC25A42, DGUOK, NDUFAF6, WDR45, DLAT, DLD, WASHC5, RUBCN, DDHD2, FASTKD2, TBC1D24, EPG5, DNA2, EARS2, TOR1AIP1, UQCRQ, MTFMT, IARS2, DNM2, DNMT1, ISCU, NDUFAF3, COASY, DPAGT1, PIK3R5, DPM2, POLR3A, ATP13A2, SLC52A2, PREPL, PNPO, PYCR2, POLR3B, PRRT2, DNAJC19, FDX2, PARS2, SEPSECS, CLPB, TARS2, PNPLA2, DYRK1A, WDR48, TOR1A, TYMP, AFG3L2, ECHS1, EEF1A2, AGL, EEF2, ARSI, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, AGRN, ENTPD1, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FGF14, FLRT1, FOLR1, FOXG1, FXN, ALAS2, FTL, FUCA1, ALDH3A2, GABRA1, GABRD, GABRG2, GAD1, GALC, B4GALNT1, GAMT, GAN, GARS, GBA, GBE1, GCDH, GCH1, GFAP, GFER, GFPT1, GJA1, GLDC, GLRA1, GLRB, GNAL, ALS2, GOSR2, SETX, AMACR, GRID2, GRIK2, GRIN2A, GRM1, GRN, GTPBP2, AMPD2, HADH, ABCB7, HARS2, HCFC1, HCN1, HEXA, HEXB, HIBCH, MR1, HNRNPDL, HNRNPU, HPCA, HSD17B4, HSPD1, AP4B1, AP4E1, AP4M1, AP4S1, ABCD1, APOE, ITPR1, IVD, APP, KARS, KCNA1, KCNA4, KCNC1, KCNC3, KCND3, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KIF1C, KIF5A, L1CAM, LAMA2, LAMP2, LARS, LGI1, ARG1, LMNB1, LMNB2, LRP4, MAG, MAPT, MARS, ARL6IP1, MECP2, MEF2C, ARSA, MOCS1, MOCS2, MPV17, MRE11, ASAH1, MTHFR, MTM1, ASL, MTTP, MUSK, MMUT, MYBPC1, ASPA, ASS1, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NOL3, NOTCH3, NPC1, ATM, ATP1A2, ATP1A3, NT5C2, OPA1, OPA3, ATP2B4, ATP5F1A, ATP5F1E, OTC, PRKN, PC, PCCA, PCCB, ATP7B, AIFM1, ALDH7A1, PDE8B, PDGFB, PDHA1, PDHB, PDYN, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, KIF1A, ACADM, AUH, PHGDH, PHYH, ACADS, PLA2G6, PLP1, PNKD, PNKP, PODXL, POLG, POLG2, ACADVL, PDP1, PPP2R2B, PPT1, PPT2, PRKCG, PRKRA, DNAJC3, PRNP, LONP1, PSAP, SLC33A1, PSEN1, PSEN2, PEX19, PEX2, PEX5, ALDH18A1, QARS, RANBP2, BCKDHA, RAPSN, BCKDHB, RARS, RELN

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SGCE, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC6A8, SPG7, SPTAN1, CDKL5, STXBP1, SUCLA2, SUCLG1, SURF1, SYNGAP1, SYNJ1, TAZ, TIMM8A, TK2, TSFM, TUBB2A, TUFM, UBE3A, UQCRB, UQCRC2, WFS1, FBXL4, GFM1, MRPS16, SLC25A20, PCDH19, SLC25A19, MRPS22, NPC2, ARHGEF9, MICU1, GPHN, PUS1, ARHGEF15, LRPPRC, PANK2, NDUFAF5, PLCB1, SLC19A3, NFU1, EFHC1, SCARB2, CLP1, PRICKLE1, SYNE1, RRM2B, TPK1, SARS2, PDSS1, ARX, KCNT1, CHD2, DOCK7, MTO1, SLC25A22, CLCN4, NUBPL, TRIT1, PRICKLE2, MBD5, TPP1, CLN3, CLN5, CLN6, NDUFAF4, SERAC1, FARS2, RMND1, FA2H, PDHX, RARS2, NHLRC1, VARS2, KCTD7, PTCD1, CP, PDSS2, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, FLAD1, CSTB, MARS2, C19orf12, TRMU, MTPAP, DCAF17, TTC19, SDHAF2, TMEM70, FOXRED1, IBA57, LYRM7, NDUFAF2, NDUFAF6, WDR45, FASTKD2, TBC1D24, EARS2, UQCRQ, MTFMT, NDUFAF3, DPAGT1, DPM2, PNPO, PRRT2, TARS2, TYMP, EEF1A2, EIF2AK3, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FOLR1, FOXG1, GABRA1, GABRD, GABRG2, GAMT, GFAP, GFER, GLDC, GOSR2, GRIN2A, HADH, HCN1, HEXA, HEXB, HNRNPDL, HNRNPU, KCNC1, KCNH5, KCNQ2, KCNQ3, MECP2, MEF2C, MPV17, ASAH1, NDUFA1, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NPC1, OPA1, PC, ALDH7A1, PDHA1, PDHB, PHGDH, PNKP, POLG, PDP1, PPT1, PPT2, SLC33A1, QARS

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A, TK2, TSFM, TUFM, UQCRB, UQCRC2, WFS1, FBXL4, GFM1, MRPS16, SLC25A20, SLC25A19, ACTG2, MRPS22, MICU1, PUS1, LRPPRC, PANK2, NDUFAF5, GDAP1, APTX, MGME1, COX4I2, SLC19A3, NFU1, COQ8A, MFN2, LARS2, RRM2B, TPK1, SARS2, PDSS1, ATPAF2, NDUFAF1, MTO1, CHKB, COQ6, NUBPL, TRIT1, NDUFA11, CLPP, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, PDHX, ABHD5, RARS2, ACAD9, VARS2, AGK, PTCD1, COX10, COX15, COX6B1, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, MARS2, COQ2, COQ9, TMEM126A, TRMU, ANO10, MTPAP, DARS2, TTC19, SDHAF2, TMEM70, SLC25A38, C12orf65, FOXRED1, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, DLAT, DLD, FASTKD2, DNA2, EARS2, UQCRQ, MTFMT, ISCU, NDUFAF3, DPAGT1, DNAJC19, FDX2, TARS2, PNPLA2, TYMP, AFG3L2, AGL, EIF2AK3, SDHAF1, ETFA, ETFB, ETFDH, GARS, GBE1, GFAP, GFER, ABCB7, HARS2, KARS, KIF5A, LAMP2, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OPA3, ATP5F1A, ATP5F1E, PC, AIFM1, PDHA1, PDHB, ACADM, AUH, ACADS, POLG, POLG2, ACADVL, PDP1, SLC33A1

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A, TK2, TSFM, TUFM, UQCRB, UQCRC2, WFS1, FBXL4, GFM1, MRPS16, SLC25A20, SLC25A19, MRPS22, MICU1, PUS1, LRPPRC, PANK2, NDUFAF5, COX4I2, SLC19A3, NFU1, COQ8A, RRM2B, TPK1, SARS2, PDSS1, ATPAF2, MTO1, COQ6, NUBPL, TRIT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, PDHX, RARS2, ACAD9, VARS2, AGK, PTCD1, COX10, COX15, COX6B1, PDSS2, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, TTC19, SDHAF2, TMEM70, FOXRED1, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, DLAT, DLD, FASTKD2, EARS2, UQCRQ, MTFMT, NDUFAF3, DPAGT1, DNAJC19, TARS2, TYMP, EIF2AK3, SDHAF1, ETFA, ETFB, ETFDH, GFAP, GFER, MPV17, NDUFA1, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, ATP5F1A, ATP5F1E, PC, AIFM1, PDHA1, PDHB, AUH, POLG, PDP1, SLC33A1

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SGCE, SLC19A2, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC6A8, SPG7, SPTAN1, CDKL5, STXBP1, SUCLA2, SUCLG1, SURF1, SYNGAP1, SYNJ1, TAZ, TIMM8A, TK2, TSFM, TUBB2A, TUFM, UBE3A, UQCRB, UQCRC2, WFS1, FBXL4, GFM1, CACNA1A, CACNA1H, CACNB4, MRPS16, SLC25A20, PCDH19, SLC25A19, MRPS22, NPC2, ARHGEF9, CASR, MICU1, GPHN, PUS1, ARHGEF15, LRPPRC, PANK2, NDUFAF5, PLCB1, SLC19A3, NFU1, EFHC1, SCARB2, CLP1, PRICKLE1, SYNE1, RRM2B, TPK1, SARS2, PDSS1, ARX, DEPDC5, STX1B, KCNT1, CHD2, DOCK7, MTO1, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CHD8, CLCN4, NUBPL, TRIT1, PRICKLE2, MBD5, TPP1, CLN3, CLN5, CLN6, TUBB4A, NDUFAF4, SERAC1, FARS2, RMND1, FA2H, PDHX, RARS2, NHLRC1, VARS2, KCTD7, PTCD1, GMPPB, CP, PDSS2, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, FAM126A, FLAD1, CSTB, MARS2, C19orf12, TRMU, MTPAP, DCAF17, TTC19, SDHAF2, TMEM70, FOXRED1, IBA57, LYRM7, NDUFAF2, NDUFAF6, WDR45, FASTKD2, TBC1D24, EARS2, UQCRQ, MTFMT, NDUFAF3, DPAGT1, DPM2, POLR3A, ATP13A2, PNPO, POLR3B, PRRT2, TARS2, DYRK1A, TYMP, EEF1A2, EIF2AK3, EIF2B3, SDHAF1, EPM2A, ETFA, ETFB, ETFDH, FOLR1, FOXG1, FTL, GABRA1, GABRD, GABRG2, GAMT, GFAP, GFER, GLDC, GOSR2, AMACR, GRIN2A, HADH, HCN1, HEXA, HEXB, HNRNPDL, HNRNPU, KCNC1, KCNH5, KCNQ2, KCNQ3, LGI1, MECP2, MEF2C, MPV17, ASAH1, MYBPC1, NDUFA1, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NOL3, NPC1, ATP1A2, OPA1, PC, ALDH7A1, PDHA1, PDHB, PHGDH, PLA2G6, PLP1, PNKP, POLG, PDP1, PPT1, PPT2, SLC33A1, QARS