Gen-Panel
Nukleär-kodierte mitochondriale Erkrankungen: ID704.01, 312 Gene
AARS2,
ABCB7,
ACAD8,
ACAD9,
ACADM,
ACADS,
ACADSB,
ACADVL,
ACAT1,
ACO2,
AFG3L2,
AGK,
AIFM1,
AK2,
ALAS2,
ALDH4A1,
ALDH6A1,
AMACR,
AMT,
ANO10,
APTX,
ATL1,
ATP5F1A,
ATP5F1D,
ATP5F1E,
ATP5MK,
ATPAF2,
AUH,
BCAT2,
BCKDHA,
BCKDHB,
BCS1L,
BOLA3,
BTD,
C1QBP,
CARS2,
CISD2,
COA3,
COA5,
COA6,
COA8,
COQ2,
COQ4,
COQ5,
COQ6,
COQ7,
COQ8A,
COQ8B,
COQ9,
COX4I2,
COX5A,
COX6A2,
COX6B1,
COX10,
COX14,
COX15,
COX20,
COXFA4,
CPS1,
CPT1A,
CPT2,
CYB5R3,
CYC1,
CYCS,
CYP27A1,
D2HGDH,
DARS2,
DBT,
DECR1,
DGUOK,
DHODH,
DIABLO,
DLAT,
DLD,
DMGDH,
DNA2,
DNAJC19,
DNM1L,
EARS2,
ELAC2,
ERCC6,
ETFA,
ETFB,
ETFDH,
ETHE1,
FARS2,
FASTKD2,
FBP1,
FBXL4,
FH,
FOXRED1,
FXN,
GAMT,
GARS1,
GATB,
GATC,
GATM,
GCDH,
GCK,
GCSH,
GDAP1,
GFER,
GFM1,
GFM2,
GK,
GLDC,
GLRX5,
GLUD1,
GTPBP3,
HADH,
HADHA,
HADHB,
HARS2,
HCCS,
HIBCH,
HK1,
HLCS,
HMGCL,
HMGCS2,
HOGA1,
HSD17B10,
HSPD1,
HTRA2,
IDH1,
IDH2,
IDH3B,
ISCU,
IVD,
KARS1,
KIF1B,
KIF5A,
L2HGDH,
LARS2,
LIAS,
LRPPRC,
LYRM4,
LYRM7,
MAOA,
MARS2,
MCCC1,
MCCC2,
MCEE,
MFN2,
MGME1,
MICOS13,
MIEF2,
MIPEP,
MLYCD,
MMAA,
MMAB,
MMADHC,
MMUT,
MPV17,
MRM2,
MRPL3,
MRPL12,
MRPL44,
MRPS2,
MRPS7,
MRPS14,
MRPS16,
MRPS22,
MRPS23,
MRPS25,
MRPS28,
MRPS34,
MTFMT,
MTO1,
MTPAP,
MTRFR,
NAGS,
NARS2,
NDUFA1,
NDUFA2,
NDUFA6,
NDUFA9,
NDUFA10,
NDUFA11,
NDUFA12,
NDUFA13,
NDUFAF1,
NDUFAF2,
NDUFAF3,
NDUFAF4,
NDUFAF5,
NDUFAF6,
NDUFAF8,
NDUFB3,
NDUFB8,
NDUFB9,
NDUFB10,
NDUFB11,
NDUFS1,
NDUFS2,
NDUFS3,
NDUFS4,
NDUFS6,
NDUFS7,
NDUFS8,
NDUFV1,
NDUFV2,
NFU1,
NSUN3,
NUBPL,
OAT,
OPA1,
OPA3,
OTC,
OXCT1,
PANK2,
PARK7,
PC,
PCCA,
PCCB,
PCK2,
PDHA1,
PDHB,
PDHX,
PDP1,
PDSS1,
PDSS2,
PET100,
PET117,
PINK1,
PNKD,
PNPLA2,
PNPT1,
POLG,
POLG2,
PPOX,
PRKN,
PTCD3,
PUS1,
QRSL1,
RARS2,
REEP1,
RMND1,
RMRP,
RNASEH1,
RRM2B,
SACS,
SAMHD1,
SARS2,
SCO1,
SCO2,
SDHA,
SDHAF1,
SDHAF2,
SDHB,
SDHC,
SDHD,
SFXN4,
SLC6A8,
SLC19A2,
SLC19A3,
SLC22A5,
SLC25A3,
SLC25A4,
SLC25A10,
SLC25A12,
SLC25A13,
SLC25A15,
SLC25A19,
SLC25A20,
SLC25A21,
SLC25A22,
SLC25A26,
SLC25A38,
SLC33A1,
SPART,
SPAST,
SPG7,
STAR,
SUCLA2,
SUCLG1,
SURF1,
TACO1,
TAFAZZIN,
TARS2,
TFAM,
TIMM8A,
TIMM22,
TIMMDC1,
TK2,
TMEM70,
TMEM126A,
TMEM126B,
TOP3A,
TPK1,
TRIT1,
TRMT5,
TRMT10C,
TRMU,
TSFM,
TTC19,
TUFM,
TWNK,
TXN2,
TYMP,
UNG,
UQCC2,
UQCC3,
UQCRB,
UQCRC2,
UQCRFS1,
UQCRQ,
VARS2,
WFS1,
WWOX,
XPNPEP3,
YARS2,
YWHAE