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SDHD

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 602690

Gen-Panel-Analysen, die SDHD enthalten

Enzephalopathien (mitochondrial/epileptisch) ID 265.02 | >25kb

Gen Panel (462 Gene )

BCS1L
RYR1
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCO1
SCO2
AIMP1
SDHA
SDHB
SDHC
SDHD
SGCE
SLC16A2
SLC17A5
SLC19A2
SLC1A4
SLC20A2
SLC22A5
SLC25A12
SLC25A3
SLC25A4
SLC2A1
SLC6A1
SLC6A8
SIK1
SOX10
SPG7
SPTAN1
STAT2
CDKL5
STXBP1
SUCLA2
SUCLG1
SURF1
SYNGAP1
SYNJ1
SYT1
TALDO1
TAFAZZIN
TBCD
TBCE
TWNK
ACO2
TIMM8A
TK2
ACOX1
TREX1
TSFM
TUBB2A
TUFM
UBE3A
UBTF
UQCRB
UQCRC2
WFS1
XRCC4
MCOLN1
FBXL4
FRRS1L
GFM1
CACNA1A
CACNA1H
PRDM8
CACNB4
MRPS16
NPRL3
SLC25A20
CAD
PCDH19
SLC25A19
MRPS7
ACTG2
MRPS22
NPC2
ARHGEF9
VPS11
GTPBP3
CASR
MICU1
GPHN
PUS1
CHCHD10
NBAS
LRPPRC
KMT2B
PANK2
NDUFAF5
PLCB1
SAMHD1
GDAP1
APTX
MGME1
COX4I2
SLC19A3
NFU1
EFHC1
LIAS
SCARB2
MRPL44
MCEE
COQ8A
MFN2
STAMBP
CLP1
PRICKLE1
EXOSC8
MLC1
SYNE1
LARS2
NDUFA13
POLR1A
RRM2B
TRNT1
TPK1
ADGRV1
GJC2
PITRM1
SARS2
PDSS1
TXN2
ARX
AFG2A
PRIMA1
DEPDC5
RNASEH1
RNASEH2A
STX1B
PMPCA
ATPAF2
NDUFAF1
KCNT1
MMAA
COQ8B
CHAT
PSAT1
CHD2
DOCK7
MTO1
NKX6-2
MMAB
KIF21A
CHKB
CHRNA1
CHRNA2
CHRNA4
CHRNB1
CHRNB2
CHRND
CHRNE
COQ4
ISCA2
SLC25A22
CHD8
POLR1C
CLCN4
COQ6
NUBPL
TRIT1
PRICKLE2
NDUFA11
NDUFB11
SUMF1
MBD5
COA8
L2HGDH
SLC25A26
TPP1
CLN3
CLN5
CLN6
TUBB3
TUBB4A
CLPP
AARS2
NDUFAF4
SERAC1
FARS2
RMND1
FA2H
PDHX
ABHD5
RARS2
ACAD9
NHLRC1
VARS2
RNASET2
AGK
KCTD7
COL4A1
COL4A2
COLQ
COQ7
ADAR
COX10
COX15
COX6B1
GMPPB
COX8A
CP
PEX26
PDSS2
SLC13A5
TRMT5
UNC13A
ALG2
PNPT1
CPT1A
ETHE1
CPT2
VPS13D
NDUFA12
RNASEH2C
CISD2
YARS2
PTRH2
TACO1
CSF1R
BOLA3
MMACHC
HYCC1
FLAD1
CSTB
NPRL2
MARS2
SLC25A46
COQ2
CTSD
COQ9
TMEM126A
TANGO2
C19orf12
TRMU
VAC14
ANO10
MTPAP
DARS2
RNASEH2B
CARS2
KCTD17
DCAF17
TTC19
SDHAF2
CYP27A1
TMEM70
SLC25A38
NARS2
HEPACAM
NADK2
DOK7
MTRFR
FOXRED1
IBA57
XPNPEP3
LYRM7
NDUFAF2
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
DGUOK
NDUFAF6
DNAJC12
WDR45
EMC1
DLAT
DLD
SZT2
FASTKD2
TBC1D24
EPG5
DNA2
EARS2
UQCRQ
MTFMT
IARS2
DNM1L
DNM2
ISCU
NDUFAF3
DPAGT1
DPM2
POLR3A
ATP13A2
PREPL
PNPO
PYCR2
POLR3B
PRRT2
DNAJC19
FDX2
PARS2
SEPSECS
CLPB
TARS2
PNPLA2
DYRK1A
TYMP
AFG3L2
ECHS1
EEF1A2
AGL
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
AGRN
COA5
SDHAF1
EPM2A
ETFA
ETFB
ETFDH
FOLR1
FOXG1
ALAS2
FTL
FUCA1
ALDH3A2
GABRA1
GABRB1
GABRB3
GABRD
GABRG2
GALC
GAMT
GARS1
GBE1
GCDH
GFAP
GFER
GFPT1
GJA1
GLDC
GLUD1
GM2A
GNAO1
GNB1
GOSR2
AMACR
GPR88
GRIK2
GRIN2A
GRIN2D
HADH
ABCB7
HARS2
HCFC1
HCN1
HEXA
HEXB
HIBCH
HNRNPDL
HNRNPU
HSD17B4
HSPD1
ABCD1
KARS1
KCNA2
KCNB1
KCNC1
KCND3
KCNH5
KCNQ2
KCNQ3
KIF5A
LAMA2
LAMP2
LARS1
LGI1
ARG1
LMNB1
LMNB2
LRP4
MECP2
MEF2C
ARSA
MOCS1
MOCS2
MPV17
MRE11
ASAH1
MTHFR
MTM1
MUSK
MMUT
MYBPC1
ASPA
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEDD4L
NEU1
NOL3
NPC1
ATP1A2
ATP1A3
OPA1
OPA3
ATP5F1A
ATP5F1E
OTC
PABPN1
PC
PCCA
PCCB
ATP7B
AIFM1
ALDH7A1
PDGFB
PDHA1
PDHB
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX3
PEX6
ACADM
AUH
PHGDH
ACADS
PLA2G6
PLP1
PNKP
POLG
POLG2
ACADVL
PDP1
PPT1
DNAJC3
LONP1
PSAP
SLC33A1
PURA
PEX19
PEX2
PEX5
QARS1
RANBP2
RAPSN
RARS1
RELN
Enzephalopathien (mitochondrial/epileptisch) ID 265.02 | >25kb

Gen Panel (462 Gene )

BCS1L
RYR1
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCO1
SCO2
AIMP1
SDHA
SDHB
SDHC
SDHD
SGCE
SLC16A2
SLC17A5
SLC19A2
SLC1A4
SLC20A2
SLC22A5
SLC25A12
SLC25A3
SLC25A4
SLC2A1
SLC6A1
SLC6A8
SIK1
SOX10
SPG7
SPTAN1
STAT2
CDKL5
STXBP1
SUCLA2
SUCLG1
SURF1
SYNGAP1
SYNJ1
SYT1
TALDO1
TAFAZZIN
TBCD
TBCE
TWNK
ACO2
TIMM8A
TK2
ACOX1
TREX1
TSFM
TUBB2A
TUFM
UBE3A
UBTF
UQCRB
UQCRC2
WFS1
XRCC4
MCOLN1
FBXL4
FRRS1L
GFM1
CACNA1A
CACNA1H
PRDM8
CACNB4
MRPS16
NPRL3
SLC25A20
CAD
PCDH19
SLC25A19
MRPS7
ACTG2
MRPS22
NPC2
ARHGEF9
VPS11
GTPBP3
CASR
MICU1
GPHN
PUS1
CHCHD10
NBAS
LRPPRC
KMT2B
PANK2
NDUFAF5
PLCB1
SAMHD1
GDAP1
APTX
MGME1
COX4I2
SLC19A3
NFU1
EFHC1
LIAS
SCARB2
MRPL44
MCEE
COQ8A
MFN2
STAMBP
CLP1
PRICKLE1
EXOSC8
MLC1
SYNE1
LARS2
NDUFA13
POLR1A
RRM2B
TRNT1
TPK1
ADGRV1
GJC2
PITRM1
SARS2
PDSS1
TXN2
ARX
AFG2A
PRIMA1
DEPDC5
RNASEH1
RNASEH2A
STX1B
PMPCA
ATPAF2
NDUFAF1
KCNT1
MMAA
COQ8B
CHAT
PSAT1
CHD2
DOCK7
MTO1
NKX6-2
MMAB
KIF21A
CHKB
CHRNA1
CHRNA2
CHRNA4
CHRNB1
CHRNB2
CHRND
CHRNE
COQ4
ISCA2
SLC25A22
CHD8
POLR1C
CLCN4
COQ6
NUBPL
TRIT1
PRICKLE2
NDUFA11
NDUFB11
SUMF1
MBD5
COA8
L2HGDH
SLC25A26
TPP1
CLN3
CLN5
CLN6
TUBB3
TUBB4A
CLPP
AARS2
NDUFAF4
SERAC1
FARS2
RMND1
FA2H
PDHX
ABHD5
RARS2
ACAD9
NHLRC1
VARS2
RNASET2
AGK
KCTD7
COL4A1
COL4A2
COLQ
COQ7
ADAR
COX10
COX15
COX6B1
GMPPB
COX8A
CP
PEX26
PDSS2
SLC13A5
TRMT5
UNC13A
ALG2
PNPT1
CPT1A
ETHE1
CPT2
VPS13D
NDUFA12
RNASEH2C
CISD2
YARS2
PTRH2
TACO1
CSF1R
BOLA3
MMACHC
HYCC1
FLAD1
CSTB
NPRL2
MARS2
SLC25A46
COQ2
CTSD
COQ9
TMEM126A
TANGO2
C19orf12
TRMU
VAC14
ANO10
MTPAP
DARS2
RNASEH2B
CARS2
KCTD17
DCAF17
TTC19
SDHAF2
CYP27A1
TMEM70
SLC25A38
NARS2
HEPACAM
NADK2
DOK7
MTRFR
FOXRED1
IBA57
XPNPEP3
LYRM7
NDUFAF2
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
DGUOK
NDUFAF6
DNAJC12
WDR45
EMC1
DLAT
DLD
SZT2
FASTKD2
TBC1D24
EPG5
DNA2
EARS2
UQCRQ
MTFMT
IARS2
DNM1L
DNM2
ISCU
NDUFAF3
DPAGT1
DPM2
POLR3A
ATP13A2
PREPL
PNPO
PYCR2
POLR3B
PRRT2
DNAJC19
FDX2
PARS2
SEPSECS
CLPB
TARS2
PNPLA2
DYRK1A
TYMP
AFG3L2
ECHS1
EEF1A2
AGL
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
AGRN
COA5
SDHAF1
EPM2A
ETFA
ETFB
ETFDH
FOLR1
FOXG1
ALAS2
FTL
FUCA1
ALDH3A2
GABRA1
GABRB1
GABRB3
GABRD
GABRG2
GALC
GAMT
GARS1
GBE1
GCDH
GFAP
GFER
GFPT1
GJA1
GLDC
GLUD1
GM2A
GNAO1
GNB1
GOSR2
AMACR
GPR88
GRIK2
GRIN2A
GRIN2D
HADH
ABCB7
HARS2
HCFC1
HCN1
HEXA
HEXB
HIBCH
HNRNPDL
HNRNPU
HSD17B4
HSPD1
ABCD1
KARS1
KCNA2
KCNB1
KCNC1
KCND3
KCNH5
KCNQ2
KCNQ3
KIF5A
LAMA2
LAMP2
LARS1
LGI1
ARG1
LMNB1
LMNB2
LRP4
MECP2
MEF2C
ARSA
MOCS1
MOCS2
MPV17
MRE11
ASAH1
MTHFR
MTM1
MUSK
MMUT
MYBPC1
ASPA
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEDD4L
NEU1
NOL3
NPC1
ATP1A2
ATP1A3
OPA1
OPA3
ATP5F1A
ATP5F1E
OTC
PABPN1
PC
PCCA
PCCB
ATP7B
AIFM1
ALDH7A1
PDGFB
PDHA1
PDHB
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX3
PEX6
ACADM
AUH
PHGDH
ACADS
PLA2G6
PLP1
PNKP
POLG
POLG2
ACADVL
PDP1
PPT1
DNAJC3
LONP1
PSAP
SLC33A1
PURA
PEX19
PEX2
PEX5
QARS1
RANBP2
RAPSN
RARS1
RELN
Erbliche Tumorerkrankungen, umfassende Diagnostik ID 093.04 | >25kb

Gen Panel (172 Gene )

RIT1
RPS20
RUNX1
BLM
SDHA
SDHB
SDHC
SDHD
SEC23B
SEMA4A
BMPR1A
SFTPA1
BRAF
SLC25A11
BRCA1
BRCA2
SMARCA4
SMARCB1
SMARCE1
SOS1
SPINK1
SRP72
STK11
SUCLG2
BUB1
BUB1B
EPCAM
TERC
TERT
NKX2-1
TP53
EGLN1
TSC1
TSC2
VHL
WT1
XRCC2
IKZF1
SAMD9
SAMD9L
EGLN2
CASR
CBL
SHOC2
RTEL1
MCM8
SUFU
CHEK2
KIF1B
CDC73
CTR9
WWP1
DICER1
POT1
SRGAP1
CDH1
CDK4
CDKN1B
CDKN1C
CDKN2A
CDKN2B
RABL3
CEBPA
RNF43
DDX41
CFTR
TERF2IP
GALNT12
GREM1
SPRED1
BRIP1
FANCL
MCM9
FANCM
SLX4
ACD
CTNNA1
CTRC
FANCI
SDHAF2
TMEM127
PALB2
PARP1
FLCN
DIS3L2
DLST
FAN1
ANKRD26
DNMT3A
CEP57
EGFR
EPAS1
ERBB2
ESR2
ETV6
MECOM
EZH2
AIP
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FH
FOXE1
AKT1
GATA2
ALK
GNAS
GOT2
GPC3
GPC4
H3-3A
HABP2
HOXB13
HRAS
APC
KIT
KRAS
LZTR1
SMAD4
MAP2K1
MAP2K2
MAX
MBD4
MC1R
MDH2
MEN1
MERTK
MET
MITF
MLH1
MLH3
KMT2D
MRE11
MSH2
MSH3
MSH6
TRIM37
MUTYH
NBN
NF1
NF2
ATM
NRAS
NTHL1
PAX5
PDGFRA
PIK3CA
AXIN2
PMS2
PHOX2B
POLD1
POLE
PRKAR1A
PRSS1
BAP1
BARD1
PTCH1
PTCH2
PTEN
PTPN11
RAD50
RAD51C
RAD51D
RAF1
RB1
RECQL4
REST
RET
Mitochondriopathien - Gesamtpanel ID 087.05 | >25kb

Gen Panel (299 Gene )

BCS1L
RYR1
SCO1
SCO2
SDHA
SDHB
SDHC
SDHD
SLC19A2
SLC22A5
SLC25A12
SLC25A3
SLC25A4
SLC6A8
SPG7
STAT2
CDKL5
SUCLA2
SUCLG1
SURF1
TALDO1
TAFAZZIN
TWNK
ACO2
TIMM8A
TK2
ACOX1
TSFM
TUFM
UQCRB
UQCRC2
WFS1
XRCC4
FBXL4
FRRS1L
GFM1
CACNA1A
CACNA1H
CACNB4
MRPS16
SLC25A20
CAD
SLC25A19
MRPS7
ACTG2
MRPS22
ARHGEF9
GTPBP3
CASR
MICU1
PUS1
CHCHD10
NBAS
LRPPRC
PANK2
NDUFAF5
GDAP1
APTX
MGME1
COX4I2
SLC19A3
NFU1
EFHC1
LIAS
MRPL44
COQ8A
MFN2
LARS2
NDUFA13
RRM2B
TRNT1
TPK1
ADGRV1
PITRM1
SARS2
PDSS1
TXN2
ARX
AFG2A
DEPDC5
RNASEH1
PMPCA
ATPAF2
NDUFAF1
COQ8B
CHAT
CHD2
DOCK7
MTO1
KIF21A
CHKB
CHRNA1
CHRNA2
CHRNA4
CHRNB1
CHRNB2
CHRND
CHRNE
COQ4
ISCA2
CHD8
CLCN4
COQ6
NUBPL
TRIT1
NDUFA11
NDUFB11
COA8
SLC25A26
CLN5
CLN6
TUBB3
CLPP
AARS2
NDUFAF4
SERAC1
FARS2
RMND1
FA2H
PDHX
ABHD5
RARS2
ACAD9
VARS2
AGK
COL4A1
COL4A2
COLQ
COQ7
COX10
COX15
COX6B1
COX8A
CP
PDSS2
TRMT5
ALG2
PNPT1
CPT1A
ETHE1
CPT2
NDUFA12
CISD2
YARS2
PTRH2
TACO1
CSF1R
BOLA3
FLAD1
CSTB
MARS2
SLC25A46
COQ2
CTSD
COQ9
TMEM126A
TANGO2
C19orf12
TRMU
ANO10
MTPAP
DARS2
CARS2
DCAF17
TTC19
SDHAF2
TMEM70
SLC25A38
NARS2
DOK7
MTRFR
FOXRED1
IBA57
XPNPEP3
LYRM7
NDUFAF2
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
DGUOK
NDUFAF6
DNAJC12
EMC1
DLAT
DLD
FASTKD2
EPG5
DNA2
EARS2
UQCRQ
MTFMT
IARS2
DNM1L
DNM2
ISCU
NDUFAF3
DPAGT1
ATP13A2
PREPL
PYCR2
DNAJC19
FDX2
PARS2
SEPSECS
CLPB
TARS2
PNPLA2
DYRK1A
TYMP
AFG3L2
ECHS1
EEF1A2
AGL
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
AGRN
COA5
SDHAF1
EPM2A
ETFA
ETFB
ETFDH
FOLR1
FOXG1
ALAS2
FTL
FUCA1
ALDH3A2
GABRA1
GABRB1
GABRB3
GABRD
GABRG2
GAMT
GARS1
GBE1
GFAP
GFER
GFPT1
ABCB7
HARS2
HIBCH
ABCD1
KARS1
KIF5A
LAMP2
LARS1
ARG1
LRP4
ARSA
MPV17
MTM1
MUSK
ASPA
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
ATP1A2
ATP1A3
OPA1
OPA3
ATP5F1A
ATP5F1E
PC
ATP7B
AIFM1
ALDH7A1
PDGFB
PDHA1
PDHB
ACADM
AUH
ACADS
POLG
POLG2
ACADVL
PDP1
DNAJC3
LONP1
SLC33A1
RAPSN
Neuromuskuläre Erkrankungen ID 267.02 | >25kb

Gen Panel (555 Gene )

BCS1L
RYR1
SACS
BIN1
SBF1
SCN10A
SCN11A
SCN4A
SCN9A
SCO1
SCO2
AIMP1
SDHA
SDHB
SDHC
SDHD
SGCA
SGCB
SGCD
SGCG
DST
SLC12A6
SLC16A2
SLC19A2
SLC22A5
SLC25A1
SLC25A12
SLC25A3
SLC25A4
SLC35A3
SLC6A5
SLC6A8
SMN1
SNAP25
SOD1
SPG11
ATL1
SPAST
SPG7
SPTLC1
SPTLC2
SQSTM1
STAT2
STIM1
SUCLA2
SUCLG1
SURF1
SYT2
BVES
TALDO1
TARDBP
TAFAZZIN
TBK1
TWNK
TCAP
TFG
ACO2
TIA1
TIMM8A
TK2
TNNI2
TNNT1
TNNT2
TNNT3
TNXB
TPM2
TPM3
TRIP4
TSFM
MYOT
TTN
TTR
TUBA4A
TUFM
UBA1
UBQLN2
UQCRB
UQCRC2
VAPB
VCP
VPS33B
VRK1
WFS1
XRCC4
YARS1
ZMPSTE24
ACTA1
ACTB
LPIN1
RXYLT1
FBXL4
AAAS
GFM1
PRX
ADGRG6
CACNA1S
SLC5A7
MRPS16
ARHGEF10
CCDC78
SLC25A20
CAD
ACTG1
SLC25A19
MRPS7
ACTG2
MRPS22
WNK1
CAPN3
GTPBP3
DNAJB5
DNAJB6
CASQ1
CAV3
MICU1
TSEN34
PUS1
CHCHD10
NBAS
B4GAT1
LDB3
LRPPRC
BSCL2
RBCK1
ABHD12
PANK2
NDUFAF5
GDAP1
TRIM2
APTX
SELENON
LIMS2
CCT5
SLC52A3
MGME1
COX4I2
SPTLC3
SLC19A3
NFU1
TRIM32
LIAS
MRPL44
COQ8A
LITAF
FIG4
MFN2
SPEG
KLHL41
DGAT2
CLP1
EXOSC8
NIPA1
SYNE2
SYNE1
LARS2
TNPO3
OPTN
NDUFA13
BICD2
RRM2B
TRNT1
TPK1
PITRM1
SARS2
PDSS1
TXN2
EXOSC3
FKRP
TRPV4
AFG2A
MYO18B
FKBP10
RNASEH1
NEK9
FKBP14
PMPCA
CFL2
ATPAF2
NDUFAF1
TDP1
COQ8B
NALCN
CHAT
FGD4
POMGNT1
MTO1
KIF21A
CHKB
SBDS
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
COQ4
POMT2
ISCA2
TECPR2
AARS1
ADSS1
CLCN1
COQ6
NUBPL
TRIT1
VIPAS39
NDUFA11
NDUFB11
COA8
SLC25A26
GNB4
CLN3
TUBB3
CLPP
AARS2
NDUFAF4
SERAC1
FARS2
RMND1
SBF2
PDHX
ABHD5
RARS2
ACAD9
VARS2
CNTN1
AGK
COL12A1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
FAM20C
COLQ
COQ7
ADAR
COX10
COX15
COX6A1
COX6B1
KLHL13
GMPPB
COX8A
PDSS2
TRMT5
ALG2
PNPT1
MYH14
CPT1A
ETHE1
CPT2
DOLK
DHTKD1
MORC2
GNE
ADCY6
INF2
CRYAB
NDUFA12
CISD2
YARS2
PTRH2
ASCC1
TACO1
BOLA3
CHST14
ATL3
CHMP2B
HYCC1
SIL1
FLAD1
DCAF8
ZC4H2
CTDP1
MARS2
LRSAM1
SLC25A46
COQ2
COQ9
TMEM126A
TANGO2
C19orf12
TRMU
ANO10
MTPAP
DARS2
CUL4B
CARS2
LAS1L
TRAPPC11
REEP1
ORAI1
POMGNT2
RETREG1
TTC19
SDHAF2
CYP27A1
TMEM70
SLC25A38
MTMR14
POMK
PIEZO2
NARS2
KY
DOK7
DAG1
MTRFR
FOXRED1
DCTN1
IBA57
ANO5
TSEN54
DES
XPNPEP3
LYRM7
NDUFAF2
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
TSEN2
STAC3
TMEM43
DGUOK
B3GALNT2
NDUFAF6
FBXO38
MED25
DLAT
DLD
ABCA1
SMCHD1
ADSL
PLEKHG5
FASTKD2
DMD
EPG5
DNA2
EARS2
SH3TC2
TOR1AIP1
UQCRQ
DYNC1H1
DYNC2H1
MEGF10
MTFMT
IARS2
DNM1L
DNM2
DNMT1
DNMT3B
ISCU
NDUFAF3
DPAGT1
DPM1
DPM2
DPM3
HSPB8
SLC52A2
PREPL
PYCR2
LRIF1
KLHL40
DNAJC19
FDX2
PARS2
SEPSECS
CLPB
TARS2
PNPLA2
TUBB2B
DYSF
ECEL1
TYMP
AFG3L2
ECHS1
AGL
EGR2
EIF2AK3
ZBTB42
AGRN
EMD
COA5
SDHAF1
ERBB3
ERCC6
ETFA
ETFB
ETFDH
FAT1
FBLN5
FBN2
FKTN
FGFR2
FHL1
KBTBD13
CRPPA
FLNB
FLNC
FXN
ALAS2
FUS
GAA
GALC
GAN
GARS1
GBA1
GBE1
GCDH
GFAP
GFER
GFPT1
GJB1
GLA
GLDC
GLE1
GLRA1
GLRB
ALS2
GOSR2
SETX
AMACR
GSN
AMPD1
GYG1
HADH
ABCB7
HADHA
HADHB
HARS1
HARS2
ANG
HEXA
HIBCH
HINT1
HK1
RIPK4
TRPA1
HMBS
HNRNPA1
HNRNPA2B1
HNRNPDL
HNRNPU
HRAS
DNAJB2
HSPB1
HSPB3
HSPG2
IFRD1
IGHMBP2
ELP1
FOXP3
ITGA7
KARS1
KCNE3
KCNJ2
KIF5A
LAMA2
LAMB2
LAMP2
LARGE1
LARS1
LMNA
LMOD3
LRP4
SMAD3
MAGEL2
MARS1
MATR3
MPV17
MPZ
SEPTIN9
ASAH1
MTM1
MTMR1
MTMR2
MUSK
MYBPC1
MYF6
MYH2
MYH3
MYH7
MYH8
MYO9A
MYOD1
NAGLU
NDRG1
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEB
NEFL
NGF
ATM
ATP1A3
CNTNAP1
NTRK1
ATP2A1
OPA1
OPA3
SIGMAR1
ATP5F1A
ATP5F1E
PABPN1
PC
ATP7A
ATP7B
AIFM1
PDGFB
PDHA1
PDHB
PDK3
PEX12
PFKM
KIF1A
PGK1
ACADM
AUH
PGM1
PHGDH
PIP5K1C
ACADS
PLEC
PLOD2
PLP1
PMP2
PMP22
PHOX2B
POLG
POLG2
ACADVL
POMT1
PDP1
BAG3
DNAJC3
PRPS1
LONP1
SLC33A1
CAVIN1
PYGM
RAB7A
RAPSN

Einzelgenanalyse

Assoziierte Erkrankung(en)