1. Analytes
  2. OPA1

OPA1

Analyte Export to PDF
Name:
OPA1 mitochondrial dynamin like GTPase
Symbol:
OPA1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
Dynamin-like 120 kDa protein, mitochondrial
FLJ12460
KIAA0567
MGM1
NPG
NTG
dynamin-like guanosine triphosphatase
mitochondrial dynamin-like GTPase
XREF(s):
Orphanet
Reactome
Ensembl
Genatlas
HGNC
OMIM
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Ataxia (141 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BEAN1 85.90 0 NM_001178020.2
    KCNC3 88.90 0 NM_004977.2
    SYT14 92.90 0 NM_001146261.2
    PTF1A 94.90 0 NM_178161.2
    ATXN10 95.40 0 NM_013236.3
    ATXN2 96.20 0 NM_002973.3
    FXN 96.40 0 NM_000144.4
    ATXN3 97.20 0 NM_004993.5
    TTC19 98.00 0 NM_017775.3
    ATXN7 98.00 0 NM_000333.3
    ABHD12 98.00 0 NM_001042472.2
    FMR1 98.50 0 NM_002024.5
    DAB1 98.80 0 NM_021080.4
    CACNA2D2 98.90 0 NM_006030.3
    APTX 99.00 0 NM_175073.2
    TBP 99.30 0 NM_003194.4
    CLN6 99.30 0 NM_017882.2
    EIF2B2 99.50 0 NM_014239.3
    CP 99.50 0 NM_000096.3
    DNMT1 99.50 0 NM_001130823.2
    MTPAP 99.50 0 NM_018109.3
    PRRT2 99.60 0 NM_145239.2
    DARS2 99.70 0 NM_018122.4
    PNKP 99.80 0 NM_007254.3
    CLCN2 99.80 0 NM_004366.5
    PNPLA6 99.80 0 NM_006702.4
    CACNA1A 99.80 0 NM_001127221.1
    ATN1 99.80 0 NM_001007026.1
    AFG3L2 99.80 0 NM_006796.2
    AMPD2 99.80 0 NM_001257360.1
    TRPC3 99.80 0 NM_001130698.1
    GRM1 99.90 0 NM_001278064.1
    TPP1 99.90 0 NM_000391.3
    CACNA1G 99.90 0 NM_018896.4
    ATP8A2 99.90 0 NM_016529.5
    NPC1 99.90 0 NM_000271.4
    PRKCG 99.90 0 NM_002739.4
    SPG7 99.90 0 NM_003119.3
    ATXN1 99.90 0 NM_000332.3
    IFRD1 99.90 0 NM_001550.3
    NKX6-2 99.90 0 NM_177400.2
    TK2 99.90 0 NM_004614.4
    TGM6 99.90 0 NM_198994.2
    COX20 99.90 0 NM_198076.5
    SLC9A1 100.00 0 NM_003047.4
    TTPA 100.00 0 NM_000370.3
    ATP2B3 100.00 0 NM_001001344.2
    EIF2B4 100.00 0 NM_015636.3
    PEX7 100.00 0 NM_000288.3
    ANO10 100.00 0 NM_018075.4
    SPTBN2 100.00 0 NM_006946.3
    ITPR1 100.00 0 NM_002222.5
    RUBCN 100.00 0 NM_001145642.4
    PEX10 100.00 0 NM_153818.1
    TMEM240 100.00 0 NM_001114748.1
    WDR81 100.00 0 NM_001163809.1
    CACNB4 100.00 0 NM_000726.4
    ATM 100.00 0 NM_000051.3
    VWA3B 100.00 0 NM_144992.4
    AP1S2 100.00 0 NM_003916.4
    SYNE1 100.00 0 NM_033071.3
    SCYL1 100.00 0 NM_020680.3
    STUB1 100.00 0 NM_005861.3
    SLC1A3 100.00 0 NM_004172.4
    LAMA1 100.00 0 NM_005559.3
    NOP56 100.00 0 NM_006392.3
    CYP27A1 100.00 0 NM_000784.3
    KCNA1 100.00 0 NM_000217.2
    SETX 100.00 0 NM_015046.6
    CLN5 100.00 0 NM_006493.2
    EIF2B3 100.00 0 NM_020365.4
    PUM1 100.00 0 NM_001020658.1
    MRE11 100.00 0 NM_005591.3
    WWOX 100.00 0 NM_016373.3
    GFAP 100.00 0 NM_002055.4
    VLDLR 100.00 0 NM_003383.4
    GBA2 100.00 0 NM_020944.2
    KIF1C 100.00 0 NM_006612.5
    CWF19L1 100.00 0 NM_018294.5
    CCDC88C 100.00 0 NM_001080414.3
    SACS 100.00 0 NM_014363.5
    AAAS 100.00 0 NM_015665.5
    ABCB7 100.00 0 NM_004299.5
    ACO2 100.00 0 NM_001098.2
    ARSA 100.00 0 NM_000487.5
    ATCAY 100.00 0 NM_033064.4
    ATG5 100.00 0 NM_004849.3
    ATP1A3 100.00 0 NM_152296.5
    CA8 100.00 0 NM_004056.5
    CAPN1 100.00 0 NM_001198868.1
    COQ8A 100.00 0 NM_020247.4
    DNAJC19 100.00 0 NM_145261.3
    DNAJC3 100.00 0 NM_006260.4
    DNAJC5 100.00 0 NM_025219.2
    EEF2 100.00 0 NM_001961.3
    EIF2B1 100.00 0 NM_001414.3
    EIF2B5 100.00 0 NM_003907.2
    ELOVL4 100.00 0 NM_022726.3
    ELOVL5 100.00 0 NM_021814.4
    EXOSC3 100.00 0 NM_016042.3
    FGF14 100.00 0 NM_004115.3
    FLVCR1 100.00 0 NM_014053.3
    FOLR1 100.00 0 NM_016725.2
    GOSR2 100.00 0 NM_004287.4
    GRID2 100.00 0 NM_001510.3
    HEXA 100.00 0 NM_000520.5
    HEXB 100.00 0 NM_000521.3
    KCND3 100.00 0 NM_004980.4
    KCNJ10 100.00 0 NM_002241.4
    MARS2 100.00 0 NM_138395.3
    MME 100.00 0 NM_007289.3
    MTTP 100.00 0 NM_000253.3
    NPC2 100.00 0 NM_006432.3
    OPA1 100.00 0 NM_015560.2
    PDYN 100.00 0 NM_024411.4
    PHYH 100.00 0 NM_006214.3
    PIK3R5 100.00 0 NM_001142633.2
    PMM2 100.00 0 NM_000303.2
    PMPCA 100.00 0 NM_015160.2
    POLG 100.00 0 NM_002693.2
    POLR3A 100.00 0 NM_007055.3
    PPP2R2B 100.00 0 NM_181678.2
    PRICKLE1 100.00 0 NM_153026.2
    RNF170 100.00 0 NM_001160223.1
    RNF216 100.00 0 NM_207111.3
    SAMD9L 100.00 0 NM_152703.4
    SEPSECS 100.00 0 NM_016955.3
    SIL1 100.00 0 NM_022464.4
    SLC52A2 100.00 0 NM_024531.4
    SNX14 100.00 0 NM_153816.5
    SRD5A3 100.00 0 NM_024592.4
    TDP1 100.00 0 NM_018319.3
    TDP2 100.00 0 NM_016614.2
    TTBK2 100.00 0 NM_173500.3
    TUBB4A 100.00 0 NM_006087.3
    TWNK 100.00 0 NM_021830.4
    VAMP1 100.00 0 NM_014231.4
    WFS1 100.00 0 NM_006005.3
    XRCC1 100.00 0 NM_006297.2
    ZNF592 100.00 0 NM_014630.2
    ATXN8OS 100.00 0 NG_016173.1
  • Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AMPD2 99.99 1
    AP4B1 99.97 1
    ATP13A2 99.98 1
    CAMTA1 99.97 1
    COA7 100.00 1
    COQ8A 100.00 1
    COX20 99.40 1
    DARS2 99.86 1
    EIF2B3 99.95 1
    FLVCR1 99.93 1
    GDAP2 99.96 1
    GJC2 96.12 1
    HPDL 100.00 1
    IBA57 96.45 1
    KCNA2 100.00 1
    KCND3 100.00 1
    MMACHC 99.99 1
    MSTO1 98.87 1
    PUM1 99.95 1
    RNF220 99.95 1
    SLC9A1 99.86 1
    TMEM240 99.83 1
    TOE1 99.99 1
    VPS13D 99.85 1
    ALDH18A1 99.96 1
    CWF19L1 99.89 1
    ENTPD1 99.90 1
    ERLIN1 99.96 1
    NKX6-2 96.38 1
    NT5C2 99.89 1
    PHYH 99.65 1
    POLR3A 99.95 1
    ATM 99.83 1
    BSCL2 100.00 1
    CAPN1 100.00 1
    CLP1 100.00 1
    FAR1 99.83 1
    HIKESHI 99.89 1
    MRE11 99.90 1
    SCYL1 99.64 1
    SPTBN2 99.99 1
    TPP1 99.88 1
    AAAS 99.98 1
    B4GALNT1 99.95 1
    EIF2B1 99.96 1
    KCNA1 99.96 1
    KIF5A 99.93 1
    MTRFR 99.85 1
    PRICKLE1 99.97 1
    SCN8A 99.90 1
    VAMP1 99.70 1
    ATP7B 99.99 1
    ATP8A2 99.96 1
    EXOSC8 99.69 1
    FGF14 99.79 1
    KPNA3 99.96 1
    SACS 99.98 1
    SPART 99.99 1
    AP4S1 87.70 1
    ATL1 99.95 1
    DDHD1 99.98 1
    EIF2B2 99.84 1
    GALC 99.88 1
    GCH1 99.74 1
    GLRX5 98.29 1
    IRF2BPL 98.65 1
    NPC2 99.99 1
    TMEM63C 99.99 1
    VRK1 99.94 1
    ZFYVE26 99.96 1
    AP4E1 99.89 1
    CLN6 98.04 1
    HEXA 99.98 1
    NIPA1 96.26 1
    POLG 99.98 1
    SPG11 99.94 1
    SPG21 99.99 1
    TTBK2 99.88 1
    WDR73 99.99 1
    ARL6IP1 99.84 1
    CHMP1A 100.00 1
    FA2H 99.93 1
    SPG7 99.99 1
    STUB1 99.73 1
    CACNA1G 99.89 1
    COASY 99.98 1
    GFAP 99.94 1
    GOSR2 99.75 1
    KIF1C 99.99 1
    NPTX1 99.35 1
    PCYT2 97.60 1
    TSEN54 98.24 1
    VPS53 99.98 1
    WDR45B 99.96 1
    WDR81 100.00 1
    AFG3L2 99.82 1
    NPC1 99.84 1
    ATCAY 99.99 1
    ATP1A3 99.99 1
    C19ORF12 99.36 1
    CACNA1A 99.66 1
    CPT1C 99.99 1
    DNMT1 99.88 1
    EEF2 99.99 1
    KCNC3 94.29 1
    MAG 99.81 1
    OPA3 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    PRKCG 99.90 1
    RTN2 99.99 1
    TUBB4A 98.81 1
    ALS2 99.91 1
    ATP5MC3 100.00 1
    CYP27A1 99.96 1
    DARS1 99.87 1
    EIF2B4 99.94 1
    HSPD1 99.95 1
    KIDINS220 99.97 1
    KIF1A 99.96 1
    MARS2 100.00 1
    PGAP1 99.64 1
    REEP1 99.99 1
    SELENOI 99.88 1
    SLC1A4 99.95 1
    SPAST 99.83 1
    ABHD12 99.11 1
    DNAJC5 99.99 1
    PDYN 99.98 1
    TGM6 100.00 1
    ARSA 100.00 1
    PLA2G6 99.98 1
    ANO10 99.92 1
    ATG7 99.98 1
    BTD 99.99 1
    CACNA2D2 99.32 1
    CLCN2 99.97 1
    CTNNB1 99.98 1
    EIF2B5 99.95 1
    ITPR1 99.94 1
    OPA1 99.87 1
    RUBCN 99.94 1
    SLC33A1 99.82 1
    TFG 99.34 1
    TSEN2 86.92 1
    AIMP1 99.90 1
    CYP2U1 97.44 1
    EXOSC9 99.86 1
    GRID2 99.98 1
    MTTP 99.96 1
    RFC1 99.44 1
    SEPSECS 99.84 1
    UCHL1 99.99 1
    CCT5 99.97 1
    FAT2 99.94 1
    HEXB 99.91 1
    PCDH12 100.00 1
    REEP2 100.00 1
    SIL1 99.99 1
    SLC1A3 99.90 1
    SLC25A46 99.93 1
    SQSTM1 100.00 1
    THG1L 99.95 1
    ABHD16A 100.00 1
    ARG1 99.98 1
    ELOVL4 99.92 1
    ELOVL5 99.95 1
    FARS2 99.98 1
    GRM1 99.87 1
    HACE1 99.91 1
    PEX7 99.87 1
    RARS2 97.34 1
    SNX14 99.73 1
    SYNE1 99.96 1
    TDP2 99.85 1
    AP4M1 100.00 1
    AP5Z1 99.94 1
    COG5 99.92 1
    IFRD1 99.96 1
    PMPCB 99.98 1
    RNF216 99.99 1
    SAMD9L 99.98 1
    VPS41 99.95 1
    CA8 99.97 1
    CYP7B1 99.87 1
    DDHD2 99.74 1
    ERLIN2 99.94 1
    GPAA1 99.88 1
    RNF170 99.94 1
    TTPA 99.97 1
    WASHC5 99.90 1
    APTX 99.92 1
    AUH 99.95 1
    EXOSC3 99.98 1
    GBA2 99.97 1
    INPP5E 99.75 1
    PMPCA 99.99 1
    SETX 99.96 1
    SPTAN1 99.97 1
    UBAP1 99.96 1
    VLDLR 99.93 1
    ABCB7 98.62 1
    ABCD1 99.78 1
    AIFM1 99.43 1
    AP1S2 97.43 1
    ATP2B3 99.82 1
    CASK 99.40 1
    L1CAM 99.90 1
    PLP1 99.93 1
  • Myopathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD5 99.64 1
    ACAD9 99.97 1
    ACADM 99.64 1
    ACADS 100.00 1
    ACADVL 99.94 1
    ACTA1 99.99 1
    ACTN2 99.96 1
    ADSS1 99.99 1
    AGK 99.98 1
    AGL 99.92 1
    AGRN 99.83 1
    ALDOA 100.00 1
    ALG14 99.97 1
    ALG2 99.95 1
    ANO5 99.96 1
    ANXA11 99.88 1
    ASCC1 91.38 1
    ATP1A2 99.96 1
    ATP2A1 99.97 1
    B3GALNT2 94.03 1
    B4GAT1 99.95 1
    BAG3 100.00 1
    BIN1 100.00 1
    BVES 99.97 1
    CACNA1S 99.92 1
    CAP2 99.97 1
    CAPN3 99.98 1
    CASQ1 99.91 1
    CAV3 99.85 1
    CAVIN1 99.99 1
    CFL2 99.81 1
    CHAT 99.77 1
    CHD7 99.96 1
    CHKB 99.89 1
    CHRNA1 99.96 1
    CHRNB1 99.99 1
    CHRND 100.00 1
    CHRNE 99.95 1
    CHRNG 99.87 1
    CLCN1 99.97 1
    CNBP 99.97 1
    COL12A1 99.95 1
    COL13A1 99.56 1
    COL25A1 99.96 1
    COL6A1 100.00 1
    COL6A2 99.96 1
    COL6A3 99.99 1
    COLQ 99.97 1
    COX6A2 98.51 1
    CPT2 99.99 1
    CRPPA 99.59 1
    CRYAB 99.98 1
    DAG1 100.00 1
    DCST2 99.92 1
    DES 100.00 1
    DGUOK 99.76 1
    DMD 99.41 1
    DMPK 99.98 1
    DNAJB6 99.91 1
    DNM2 99.96 1
    DNMT3B 99.98 1
    DOK7 99.73 1
    DPAGT1 99.96 1
    DPM2 100.00 1
    DPM3 100.00 1
    DYSF 99.99 1
    EMD 97.92 1
    ENO3 99.98 1
    ETFA 99.84 1
    ETFDH 99.76 1
    FAM111B 99.99 1
    FDX2 99.94 1
    FHL1 99.92 1
    FKRP 99.99 1
    FKTN 99.91 1
    FLAD1 100.00 1
    FLNC 99.99 1
    FXR1 99.81 1
    GAA 99.99 1
    GBE1 99.84 1
    GFER 99.96 1
    GFPT1 99.90 1
    GGPS1 99.89 1
    GMPPB 99.95 1
    GNE 99.98 1
    GYG1 99.97 1
    GYS1 99.98 1
    HACD1 99.78 1
    HADH 99.97 1
    HADHA 99.96 1
    HADHB 99.97 1
    HNRNPA1 100.00 1
    HNRNPA2B1 99.95 1
    HNRNPDL 99.92 1
    INPP5K 99.99 1
    ISCU 99.94 1
    ITGA7 99.98 1
    ITGA9 99.80 1
    JAG2 98.50 1
    KBTBD13 100.00 1
    KCNJ2 100.00 1
    KIF21A 99.80 1
    KLHL40 100.00 1
    KLHL41 99.96 1
    KLHL9 100.00 1
    KY 98.80 1
    LAMA2 99.97 1
    LAMB2 99.99 1
    LAMP2 98.98 1
    LARGE1 99.99 1
    LDB3 98.02 1
    LDHA 99.77 1
    LIMS2 99.65 1
    LMNA 99.98 1
    LMOD3 99.96 1
    LPIN1 99.97 1
    LRP4 99.98 1
    MAP3K20 99.92 1
    MATR3 99.87 1
    MB 99.99 1
    MEGF10 99.90 1
    MICU1 99.98 1
    MLIP 99.94 1
    MSTO1 98.87 1
    MTM1 99.36 1
    MUSK 99.97 1
    MYBPC1 99.90 1
    MYBPC3 99.98 1
    MYH14 99.79 1
    MYH2 99.97 1
    MYH3 99.96 1
    MYH7 100.00 1
    MYL1 99.93 1
    MYL2 99.98 1
    MYMX 100.00 1
    MYO18B 99.98 1
    MYO9A 99.91 1
    MYOD1 99.82 1
    MYOT 99.98 1
    MYPN 99.97 1
    NEB 99.77 1
    NPL 99.95 1
    OPA1 99.87 1
    ORAI1 97.73 1
    PABPN1 99.67 1
    PAX7 99.96 1
    PFKM 99.82 1
    PGAM2 100.00 1
    PGK1 99.71 1
    PGM1 99.89 1
    PHKA1 99.57 1
    PHKB 99.79 1
    PHOX2A 96.75 1
    PLEC 99.98 1
    PNPLA2 99.99 1
    PNPLA8 99.81 1
    POGLUT1 99.91 1
    POLG 99.98 1
    POLG2 99.68 1
    POMGNT1 99.98 1
    POMGNT2 100.00 1
    POMK 99.98 1
    POMT1 99.91 1
    POMT2 99.93 1
    POPDC3 99.93 1
    PREPL 99.96 1
    PRKAG2 99.92 1
    PYGM 99.98 1
    PYROXD1 99.83 1
    RAPSN 99.99 1
    RBCK1 99.99 1
    RXYLT1 99.53 1
    RYR1 99.92 1
    SCN4A 99.77 1
    SELENON 95.81 1
    SGCA 99.99 1
    SGCB 99.62 1
    SGCD 99.94 1
    SGCG 99.87 1
    SIL1 99.99 1
    SLC18A3 100.00 1
    SLC22A5 99.99 1
    SLC25A20 99.90 1
    SLC25A4 99.96 1
    SLC5A7 99.97 1
    SMCHD1 99.82 1
    SMPX 99.37 1
    SPEG 99.97 1
    SQSTM1 100.00 1
    STAC3 99.94 1
    STIM1 99.97 1
    SVIL 99.94 1
    SYNE1 99.96 1
    SYNE2 99.85 1
    SYT2 99.89 1
    TCAP 100.00 1
    TIA1 99.56 1
    TK2 99.99 1
    TMEM126B 99.68 1
    TMEM43 99.98 1
    TNNC2 99.95 1
    TNNI2 100.00 1
    TNNT1 99.82 1
    TNNT3 100.00 1
    TNPO3 99.95 1
    TNXB 99.95 1
    TOP3A 99.95 1
    TOR1AIP1 99.84 1
    TPI1 99.95 1
    TPM2 99.93 1
    TPM3 99.95 1
    TRAPPC11 99.59 1
    TRDN 99.03 1
    TRIM32 100.00 1
    TRIP4 99.91 1
    TRMT5 99.83 1
    TTN 99.96 1
    TUBB3 100.00 1
    TWNK 100.00 1
    UNC45B 99.93 1
    VAMP1 99.70 1
    VCP 99.92 1
    VMA21 97.04 1
    VWA1 91.35 1