Panel für Mitochondriopathien

Infor­ma­tio­nen

Das Dia­gnos­tik-Panel für Mito­chon­drio­pa­thi­en umfasst 396 Gene. Alle die­se Gene wer­den par­al­lel sequen­ziert und die Gene inter­pre­tiert, die mit dem Phä­no­typ des Pati­en­ten asso­zi­iert sind. Unten fin­den Sie, neben allen Genen des Panels, unse­re vor­ge­schla­ge­nen Gen-Sets.

Für dia­gnos­ti­sche Fra­ge­stel­lun­gen kön­nen die Gen-Sets ein­zeln oder in Kom­bi­na­ti­on ange­for­dert wer­den. Eine indi­vi­du­el­le Gen­kom­bi­na­ti­on ist eben­falls mög­lich.

Bei Fra­gen wen­den Sie sich bit­te gern an unser Dia­gnos­tik-Sup­port Team.

Metho­de

Die Anrei­che­rung der kodie­ren­den Berei­che, sowie der angren­zen­den Intron­be­rei­che erfolgt mit einer Hybri­di­za­ti­on-in-Solu­ti­on-Tech­no­lo­gie. Hier­bei wird die Aus­wahl der anzu­rei­chern­den Berei­che getrof­fen und die Anrei­che­rungs-Baits designt.

Die Hoch­durch­satz-Sequen­zie­rung wird auf der Illu­mi­na HiSeq Platt­form durch­ge­führt. Mit­tels haus­in­ter­ner Com­pu­ter­clus­ter wer­den die Daten bio­in­for­ma­tisch auf­be­rei­tet.

Anschlie­ßend wer­tet unser Team aus Wis­sen­schaft­lern und Fach­ärz­ten für Human­ge­ne­tik die Daten aus und erstellt einen medi­zi­ni­schen Befund.

Mate­ri­al und Dau­er
  • 3–5 ml EDTA-Blut oder 5 µg geno­mi­sche DNA
  • Gewe­be­pro­be (z.B. Mus­kel­bi­op­sie)
  • Ein­sen­de­for­mu­lar inkl. schrift­li­che Ein­ver­ständ­nis­er­klä­rung nach GenDG

Dau­er der Unter­su­chung: 4–6 Wochen

Mito­chon­drio­pa­thi­en — Aus­wer­tung der gesam­ten mtD­NA inkl. der Kon­troll­re­gio­nen (MIT01)

Mito­chon­drio­pa­thi­en — Aus­wer­tung der gesam­ten mtD­NA inkl. der Kon­troll­re­gio­nen
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MTTL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY (37 Gene, 15 kb)

Ein­sen­de­for­mu­lar

Nukle­är kodier­te mito­chon­dria­le Erkran­kun­gen (MIT02)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AARS2, ABCB7, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ADCK3, ADCK4, AFG3L2, AGK, AGL, AIFM1, ALDH4A1, ALDH6A1, AMACR, AMPD1, AMT, ANO10, APOPT1, APTX, ATAD3A, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCAT2, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C10ORF2, C12ORF65, C19ORF70, CA5A, CARS2, CCDC115, CDKL5, CEP89, CHCHD10, CISD2, CLPB, CLPP, COA3, COA5, COA6, COA7, COASY, COG8, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7B, COX8A, CPS1, CPT1A, CPT2, CYB5R3, CYC1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DBT, DDHD1, DGUOK, DHTKD1, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DPAGT1, DPYD, EARS2, ECHS1, ECI1, ECSIT, EIF2AK3, ELAC2, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GAD1, GAMT, GARS, GATM, GBE1, GCDH, GCK, GCSH, GDAP1, GFAP, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GNPAT, GPAM, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IARS, IARS2, IBA57, IDH2, ISCA2, ISCU, ITPA, IVD, KIF5A, KLC2, L2HGDH, LAMP2, LARS, LARS2, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGME1, MGST3, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMADHC, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRRF, MTFMT, MTO1, MTPAP, MUT, NADK2, NAGS, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NIPSNAP1, NIPSNAP3A, NPL, NR2F1, NSUN3, NUBPL, NUP62, OAT, OFD1, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARP10, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PHYH, PIGQ, PLA2G6, PNPLA2, PNPLA4, PNPT1, POLG, POLG2, PPA2, PPOX, PTCD1, PUS1, PYCR1, PYGM, QRSL1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RRM2B, RTN4IP1, RYR1, SAMH D1, SARS2, SBDS, SCO1, SCO2, SDHA, SDHAF1, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC24A4, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC33A1, SLC35G2, SLC39A8, SLC52A2, SLC6A8, SPAST, SPG20, SPG7, STXBP1, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TFAM, TFG, TIMM50, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TSFM, TTC19, TUFM, TXN2, TYMP, UGT1A1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, WWOX, XPNPEP3, YARS2, YME1L1 (359 Gene, 525 kb)

Bit­te tref­fen Sie für gesetz­lich ver­si­cher­te Pati­en­ten eine indi­vi­du­el­le Aus­wahl von Genen bis maxi­mal 25 kb (sie­he Sei­te 5) ent­spre­chend dem kli­ni­schen Phä­no­typ. Gern sind wir dabei behilf­lich.

Ein­sen­de­for­mu­lar

Leigh-Syn­drom (nukle­ä­re Gene) (MIT03)

Leigh-Syn­drom (nukle­ä­re Gene)
SURF1, BCS1L, COX10, NDUFS4, NDUFS8, NDUFAF2, NDUFAF6, NDUFS7, ECHS1, COX15, NDUFA10, NDUFA2, FOXRED1, SDHA, NDUFA12, HIBCH, C12ORF65, NDUFAF5, NDUFV1, IARS2, NDUFS3, NDUFA9 (22 Gene, 25 kb)

Voll­stän­di­ges Gen-Set*
AARS2, ACAD9, ADCK3, BCS1L, C12ORF65, COX10, COX15, COX8A, ECHS1, FOXRED1, GFM2, GYG2, HIBCH, IARS2, LIPT1, MFF, MPV17, MTFMT, NARS2, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PDHA1, PDHB, PDSS2, PET100, SCO2, SDHA, SERAC1, SLC19A3, SLC25A46, SURF1, TACO1, TPK1, TSFM, TUFM (45 Gene, 52 kb)

Ein­sen­de­for­mu­lar

* Aus­wahl der am wahr­schein­lichs­ten betrof­fe­nen Gene für gesetz­li­che kran­ken­ver­si­cher­te Pati­en­ten bis zu 25 kb nach kli­ni­scher Sym­pto­ma­tik und bio­in­for­ma­ti­scher Aus­wer­tung.

Mito­chon­dria­le Enze­pha­lo­pa­thie / Mito­chon­dria­le Hepato(enzephalo)pathie (MIT04)

Mito­chon­dria­le Enze­pha­lo­pa­thie / Mito­chon­dria­le Hepato(enzephalo)pathie
ABHD5, AIFM1, C10ORF2, CPT1A, DGUOK, EARS2, GBE1, GFM1, MPV17, NBAS, PNPLA2, SUCLG1, TRMU (13 Gene, 25 kb)

Voll­stän­di­ges Gen-Set*
AARS2, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ADCK3, AGK, AGL, AIFM1, ALDH4A1, ALDH6A1, AMACR, AMT, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, BTD, C10ORF2, C19ORF70, CA5A, CARS2, CCDC115, CDKL5, COA7, COASY, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX4I2, COX6B1, CPS1, CPT1A, CPT2, CYB5R3, CYP11B2, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DGUOK, DLAT, DLD, DNAJC19, DPAGT1, DPYD, EARS2, ECHS1, EIF2AK3, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FLAD1, FOXRED1, GAMT, GATM, GBE1, GCDH, GCK, GCSH, GFAP, GFER, GFM1, GK, GLDC, GLRX5, GLUD1, HADH, HADHA, HADHB, HCCS, HLCS, HMGCS2, HSD17B10, HSPD1, IARS, IBA57, IDH2, ISCA2, ITPA, KIF5A, L2HGDH, LAMP2, LARS, LIAS, LMBRD1, LRPPRC, LYRM7, MARS2, MCCC1, MCCC2, MFF, MICU1, MLYCD, MMAA, MMAB, MMADHC, MPV17, MRPS16, MRPS22, MRPS23, MTFMT, MTO1, MTPAP, MUT, NADK2, NAGS, NBAS, NFU1, NUBPL, OAT, OFD1, OPA1, OTC, PANK2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PLA2G6, PNPLA2, PNPT1, POLG, PTCD1, PUS1, PYGM, RARS2, RMND1, RRM2B, SAMHD1, SARS2,
SBDS, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC33A1, SLC6A8, SPG20, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TFG, TIMM8A, TK2, TMEM70, TPK1, TRIT1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, XPNPEP3, YARS2 (204 Gene, 320 kb)

Ein­sen­de­for­mu­lar

* Aus­wahl der am wahr­schein­lichs­ten betrof­fe­nen Gene für gesetz­li­che kran­ken­ver­si­cher­te Pati­en­ten bis zu 25 kb nach kli­ni­scher Sym­pto­ma­tik und bio­in­for­ma­ti­scher Aus­wer­tung.

Mito­chon­dria­le DNA-Deple­ti­ons- und Dele­ti­ons­syn­dro­me (MIT05)

Mito­chon­dria­le DNA-Deple­ti­ons- und Dele­ti­ons­syn­dro­me
POLG, C10ORF2, TYMP, DGUOK, TK2, MPV17, FBXL4, SLC25A4, AGK, RRM2B, POLG2, SUCLA2, DNA2, SUCLG1, MGME1, RNASEH1, PARS2 (17 Gene, 25 kb)

Voll­stän­di­ges Gen-Set*
AARS2, AGK, C10ORF2, C12ORF65, CHCHD10, DGUOK, DNA2, FBXL4, GFER, MFN2, MGME1, MPV17, NDUFS1, OPA1, OPA3, PARS2, POLG, POLG2, RNASEH1, RRM2B, SLC24A4, SLC25A3, SLC25A4, SPG7,
SUCLA2, SUCLG1, TFAM, TIMM50, TIMM8A, TK2, TMEM126A, TYMP, WFS1 (33 Gene, 49 kb)

Ein­sen­de­for­mu­lar

* Aus­wahl der am wahr­schein­lichs­ten betrof­fe­nen Gene für gesetz­li­che kran­ken­ver­si­cher­te Pati­en­ten bis zu 25 kb nach kli­ni­scher Sym­pto­ma­tik und bio­in­for­ma­ti­scher Aus­wer­tung.

Pyru­vat-Stoff­wech­sel-Erkran­kun­gen (MIT06)

Pyru­vat-Stoff­wech­sel-Erkran­kun­gen
PDHA1, DLD, TMEM70, PDHB, PDHX, DLAT, PDP1, MPC1, ATP5E (9 Gene, 10 kb)

Ein­sen­de­for­mu­lar

Kom­bi­nier­ter Defekt der oxi­da­ti­ven Phos­pho­ry­lie­rung (COXPD) (MIT07)

Kom­bi­nier­ter Defekt der oxi­da­ti­ven Phos­pho­ry­lie­rung (COXPD)
EARS2, AARS2, AIFM1, FARS2, MTFMT, RMND1, GFM1, GTPBP3, MTO1, YARS2, C12ORF65, MIPEP, TUFM, TSFM, NARS2, MRPS22 (16 Gene, 25 kb)

Voll­stän­di­ges Gen-Set*
AARS2, AIFM1, ATP5A1, C12ORF65, CARS2, EARS2, ELAC2, FARS2, GFM1, GTPBP3, LYRM4, MARS2, MIPEP, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NSUN3, PNPT1, RMND1, SFXN4, SLC25A26, TARS2, TRMT10C, TRMT5, TSFM, TUFM, TXN2, YARS2 (32 Gene, 46 kb)

Ein­sen­de­for­mu­lar

* Aus­wahl der am wahr­schein­lichs­ten betrof­fe­nen Gene für gesetz­li­che kran­ken­ver­si­cher­te Pati­en­ten bis zu 25 kb nach kli­ni­scher Sym­pto­ma­tik und bio­in­for­ma­ti­scher Aus­wer­tung.

Kom­plex I-Defekt (MIT08)

Kom­plex I-Defekt
ACAD9, NDUFV1, NDUFS1, NDUFS2, NDUFS8, NDUFS4, NDUFAF5, NDUFS7, NDUFAF2, FOXRED1, NDUFAF6, AIFM1, NDUFAF1, NDUFAF3, NDUFA1, NDUFA2, NDUFA4, NDUFA8, NDUFA10, NDUFS3, NUBPL, NDUFS6, NDUFV2, NDUFV3, MTFMT, TMEM126B, C10ORF2 (27 Gene, 25 kb)

Voll­stän­di­ges Gen-Set*
AARS2, ACAD9, AIFM1, C10ORF2, ECI1, ECSIT, FOXRED1, GAD1, GPAM, HOGA1, IVD, LRPPRC, MGST3, MRRF, MTFMT, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NIPSNAP1, NIPSNAP3A, NPL, NUBPL, PHYH, PTCD1, SLC35G2, STXBP1, SUGCT, TMEM126B (60 Gene, 65 kb)

Ein­sen­de­for­mu­lar

* Aus­wahl der am wahr­schein­lichs­ten betrof­fe­nen Gene für gesetz­li­che kran­ken­ver­si­cher­te Pati­en­ten bis zu 25 kb nach kli­ni­scher Sym­pto­ma­tik und bio­in­for­ma­ti­scher Aus­wer­tung

Kom­plex II-Defekt (MIT09)

Kom­plex II-Defekt
SDHD, SDHA, SDHAF1, FOXRED1, ISCU, NFS1 (6 Gene, 6 kb)

Ein­sen­de­for­mu­lar

Kom­plex III-Defekt (MIT10)

Kom­plex III-Defekt
BCS1L, TTC19, NDUFS4, MT-CYB, LYRM7, UQCRB, UQCRQ, UQCRC2, CYC1, NFS1, UQCC2, UQCC3 (12 Gene, 9 kb)

Ein­sen­de­for­mu­lar

Kom­plex IV-Defekt (MIT11)

Kom­plex IV-Defekt
SCO2, ETHE1, COX10, APOPT1, AARS2, LRPPRC, COA3, COX4I1, COX4I2, COA5, COA6, COX6B1, COX14, COX15, COX20, FASTKD2, SCO1, PET100, SURF1, MT-CO1, MT-CO2, MT-CO3, MT-TS1, MT-TL1, TACO1, CEP89 (26 Gene, 25 kb)

Ein­sen­de­for­mu­lar

Kom­plex V-Defekt (MIT12)

Kom­plex V-Defekt (MIT12)
TMEM70, ATP5E, ATP5A1, ATPAF2, MT-ATP6, MT-ATP8 (6 Gene, 4 kb)

Ein­sen­de­for­mu­lar

CoQ10-Defi­zi­enz und Acyl-CoA-Dehy­dro­ge­na­se-Defekt (MAD-Man­gel) (MIT13)

CoQ10-Defi­zi­enz und Acyl-CoA-Dehy­dro­ge­na­se-Defekt (MAD-Man­gel)
ADCK3, ADCK4, COQ2, COQ4, COQ6, COQ7, COQ9, PDSS1, PDSS2, ANO10, APTX, ETFDH, ETFA, ETFB (14 Gene, 18 kb)

Ein­sen­de­for­mu­lar

Methyl­glut­aco­na­zi­du­rie (MGA) (MIT14)

Methyl­glut­aco­na­zi­du­rie (MGA)
TAZ, HMGCL, SUCLA2, SERAC1, CLPB, TMEM70, HTRA2, AGK, AUH, POLG, SDHA, DNAJC19, OPA3, C19ORF70, ATPAF2, ATP5E, TIMM50, MT-TL1

Ein­sen­de­for­mu­lar

MELAS- und MERRF-Syn­drom (MIT15)

MELAS- und MERRF-Syn­drom
MT-CO1, MT-CO2, MT-CYB, MT-ND1, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TC, MT-TD, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, POLG (26 Gene, 13 kb)

Ein­sen­de­for­mu­lar

Pro­gres­si­ve exter­ne Oph­thal­mop­le­gie (PEO/CPEO) (MIT16)

Pro­gres­si­ve exter­ne Oph­thal­mop­le­gie (PEO/CPEO)
OPA1, POLG, C10ORF2, RRM2B, TIMM8A, NR2F1, C12ORF65, SLC25A46, MGME1, SLC19A3, SLC25A4, ACO2, RNASEH1, MTPAP, TYMP, POLG2, TMEM126A (17 Gene, 25 kb)

Voll­stän­di­ges Gen-Set*
ACO2, AUH, C10ORF2, C12ORF65, CISD2, DNA2, DNM1L, FH, ISCA2, KLC2, MFN2, MGME1, MTPAP, NDUFS1, NR2F1, OPA1, OPA3, POLG, POLG2, RNASEH1, RRM2B, RTN4IP1, RYR1, SLC19A3, SLC25A4, SLC25A46, SLC52A2, SPG7, TIMM8A, TK2, TMEM126A, TYMP, WFS1, YME1L1 (34 Gene, 67 kb)

Ein­sen­de­for­mu­lar

* Aus­wahl der am wahr­schein­lichs­ten betrof­fe­nen Gene für gesetz­li­che kran­ken­ver­si­cher­te Pati­en­ten bis zu 25 kb nach kli­ni­scher Sym­pto­ma­tik und bio­in­for­ma­ti­scher Aus­wer­tung.

Kom­plet­tes Panel — Mito­chon­drio­pa­thi­en (396 Gene)

Kom­plet­tes Panel — Mito­chon­drio­pa­thi­en
AARS2, ABCB7, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ADCK3, ADCK4, AFG3L2, AGK, AGL, AIFM1, ALDH4A1, ALDH6A1, AMACR, AMPD1, AMT, ANO10, APOPT1, APTX, ATAD3A, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCAT2, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C10ORF2, C12ORF65, C19ORF70, CA5A, CARS2, CCDC115, CDKL5, CEP89, CHCHD10, CISD2, CLPB, CLPP, COA3, COA5, COA6, COA7, COASY, COG8, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7B, COX8A, CPS1, CPT1A, CPT2, CYB5R3, CYC1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DBT, DDHD1, DGUOK, DHTKD1, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DPAGT1, DPYD, EARS2, ECHS1, ECI1, ECSIT, EIF2AK3, ELAC2, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GAD1, GAMT, GARS, GATM, GBE1, GCDH, GCK, GCSH, GDAP1, GFAP, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GNPAT, GPAM, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IARS, IARS2, IBA57, IDH2, ISCA2, ISCU, ITPA, IVD, KIF5A, KLC2, L2HGDH, LAMP2, LARS, LARS2, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGME1, MGST3, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMADHC, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRRF, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MUT, NADK2, NAGS, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NIPSNAP1, NIPSNAP3A, NPL, NR2F1, NSUN3, NUBPL, NUP62, OAT, OFD1, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARP10, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PHYH, PIGQ, PLA2G6, PNPLA2, PNPLA4, PNPT1, POLG, POLG2, PPA2, PPOX, PTCD1, PUS1, PYCR1, PYGM, QRSL1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RRM2B, RTN4IP1, RYR1, SAMHD1, SARS2, SBDS, SCO1, SCO2, SDHA, SDHAF1, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC24A4, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC33A1, SLC35G2, SLC39A8, SLC52A2, SLC6A8, SPAST, SPG20, SPG7, STXBP1, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TFAM, TFG, TIMM50, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TSFM, TTC19, TUFM, TXN2, TYMP, UGT1A1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, WWOX, XPNPEP3, YARS2, YME1L1

Ein­sen­de­for­mu­lar