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EFHC1

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 608815

Gen-Panel-Analysen, die EFHC1 enthalten

DxOme ID 111.05

Gen Panel (1678 Gene )

RIT1
BCS1L
ROBO2
ROR2
RPL10
BFSP1
BFSP2
RPS6KA3
RRAS
RTN2
RYR1
RYR2
SACS
BIN1
SALL1
SALL2
SBF1
BLK
SCN10A
SCN11A
SCN1A
SCN1B
SCN2A
SCN3A
SCN4A
SCN4B
SCN5A
SCN8A
SCN9A
SCO1
SCO2
AIMP1
BMP1
SDCCAG8
SDHA
SDHB
SDHC
SDHD
BMP4
BMP7
BMPR1B
SF3B4
BMPR2
SGCA
SGCB
SGCD
SGCE
SGCG
SGSH
SHH
ST3GAL3
STIL
SIX1
SIX2
SIX3
SIX5
SIX6
SKI
DST
SLC12A1
SLC12A3
SLC12A6
FOXL2
SLC16A2
SLC17A5
SLC18A3
SLC19A1
SLC19A2
SLC1A3
SLC1A4
SLC20A2
SLCO1B1
SLCO1B3
SLC22A5
BRAF
SLC25A1
SLC25A12
SLC25A13
SLC25A15
SLC25A3
SLC25A4
SLC26A2
SLC27A5
SLC2A1
SLC35A1
SLC35A2
SLC35A3
SLC3A1
SLC6A1
SLC6A3
SLC6A5
SLC6A8
SLC7A9
SLC9A6
SNAI2
SMARCA2
SMARCA4
SMARCAL1
SMARCB1
SMARCC1
SMARCE1
ARID1A
SMC1A
KDM5C
SMN1
SMPD1
SMS
SNAP25
SNCA
SIK1
SNTA1
SOD1
SORL1
SOS1
SOS2
SOX10
SOX2
SOX3
SOX9
BTD
SPG11
ATL1
SPAST
SPG7
SPR
SPTAN1
SPTBN2
SPTLC1
SPTLC2
SQSTM1
SSR4
STAG1
STAG2
STAT2
STIM1
CDKL5
STUB1
STXBP1
SUCLA2
SUCLG1
SURF1
SYN1
SYNGAP1
SYNJ1
SYP
SYT1
SYT2
BVES
TACSTD2
TAF1
TALDO1
TARDBP
TAZ
TBCD
TBCE
TBK1
TBX1
TBX20
C10orf2
TBX3
TBX4
TBX5
TCAP
HNF1A
HNF1B
TCF4
ZEB1
TCOF1
TDGF1
TFAP2A
TFG
TGFB2
TGFB3
TGFBI
TGFBR1
TGFBR2
TGIF1
TH
ACO2
TIA1
KLF11
TIMM8A
NKX2-1
TJP2
TK2
TLL1
TSPAN7
ACOX1
TNNC1
TNNI2
TNNI3
TNNT1
TNNT2
TNNT3
MED12
TNXB
TPM1
TPM2
TPM3
TRDN
TREX1
TRIP4
TRPC6
TRPS1
TSC1
TSC2
TSFM
MYOT
TTN
TTPA
TTR
TUBA4A
TUBA8
TUBB2A
TUBG1
TUFM
TWIST1
TYR
TYRP1
UBA1
UBE2A
UBE3A
UBQLN2
UBTF
UGT1A1
UMOD
UPK3A
UQCRB
UQCRC2
UROD
UROS
USP8
KDM6A
VAMP1
VAPB
VAX1
VCL
VCP
VEGFC
VHL
VIM
VLDLR
VPS33B
VRK1
VSX1
WFS1
WNT1
WNT4
WNT5A
WT1
WWOX
XK
XRCC4
YARS
ZIC2
ZIC3
ZMPSTE24
ACTA1
ACTA2
KAT6A
ZNF711
ZNF81
ACTB
ADAMTS10
BCL11A
LMBR1
FTSJ1
MYOZ2
HDAC8
LPIN1
MCOLN1
NPHS2
NSDHL
PCLO
SLC2A10
VPS35
TMEM5
ATP8A2
ERLIN2
FBXO7
FBXL4
FRRS1L
AAAS
DCHS1
CTCF
GFM1
PRX
CNTNAP2
ADGRG6
FOXP2
CACNA1A
CACNA1B
CACNA1C
ATOH7
CACNA1G
CACNA1H
CACNA1S
PRDM8
ANO3
SLC5A7
CACNB4
MRPS16
CACNG2
ANLN
ARHGEF10
NPRL3
CCDC78
SLC25A20
NSD1
CAD
RAB18
CD2AP
RAB23
PCDH19
NLGN4X
NLGN3
SHANK3
ACTC1
ACTG1
SLC25A19
SLC25A21
ELOVL4
CALM1
CALM2
MRPS7
ACTG2
MRPS22
NPC2
WNK1
WNK4
ARHGEF9
PINK1
VPS11
CAMK2A
CAMK2B
CRELD1
FYCO1
CAPN3
CAPN5
COG5
GTPBP3
ZEB2
DNAJB5
DNAJB6
ALX1
PXDN
CASK
SNX14
CASQ1
CASQ2
CASR
CAV1
CAV3
MICU1
CBL
SHOC2
MBTPS2
SERPINH1
GPHN
CBS
TSEN34
PUS1
VANGL2
VANGL1
JAM3
CHCHD10
SETBP1
NBAS
ALG9
B4GAT1
LDB3
LRPPRC
GEMIN4
GATA5
OVOL2
ANKRD1
CCND2
BSCL2
KMT2B
ARFGEF2
RBCK1
ABHD12
PANK2
NDUFAF5
NOP56
PLCB1
SALL4
SAMHD1
TOE1
GDAP1
TRIM2
TP63
APTX
SEPN1
LIMS2
TBC1D20
CHMP4B
CCT5
SLC52A3
MGME1
COX4I2
DNAJC5
SPTLC3
TGM6
TRAP1
SLC19A3
PNPLA6
NFU1
PARK7
TRIM32
ACTN2
NLRP3
EFHC1
LIAS
SLC4A11
SLC45A2
NME8
RAB39B
BSND
ACTN4
IFITM5
SCARB2
MRPL44
ZFPM2
MCEE
CIZ1
UBR1
ADCK3
LITAF
FIG4
MFN2
CD59
SPEG
KLHL41
DGAT2
ERLIN1
STAMBP
SRCAP
CLP1
PRICKLE1
EXOSC8
NIPA1
RPH3A
RAB3GAP1
TAB2
MLC1
SYNE2
SYNE1
LARS2
TNPO3
CDON
ADAMTS17
OPTN
RAB3GAP2
PLCE1
NDUFA13
BICD2
POLR1A
CENPJ
RRM2B
SP7
WAC
TRNT1
BRWD3
TPK1
CLCF1
ADGRV1
GJC2
ACVRL1
CDH15
KAT6B
NDE1
NGLY1
PORCN
PITRM1
SARS2
ACY1
CDK5
PDSS1
TREM2
TXN2
MAP3K20
CDKN1C
INVS
EXOSC3
REEP2
B3GALT6
FKRP
ARID2
ARID1B
ARX
TRPV4
SPATA5
MFRP
SOX17
PHF6
MYO18B
FKBP10
CFC1
ALG1
ATP6AP2
ASXL1
PRIMA1
HSD3B7
WDR19
HPSE2
CECR1
SETD2
DEPDC5
RNASEH1
ZDHHC9
CEL
CELSR1
SPG20
RNASEH2A
STX1B
CPT1C
CCNO
NEK9
LRRK2
COG4
COG6
COG7
COG8
FKBP14
RTN4IP1
RAX
PMPCA
CDK5RAP2
CRB2
NAA10
GRIP1
DNAI2
CFL2
BBS7
POGZ
ATPAF2
NDUFAF1
CFTR
KCNT1
MMAA
IFIH1
TDP1
GBA2
ADCK4
ASPM
THOC2
VPS13A
NALCN
NPHP4
CHAT
FGD4
PSAT1
POMGNT1
TTBK2
CHD1L
CHD2
FRAS1
DOCK6
DOCK7
MTO1
P3H1
P3H2
NKX6-2
MMAB
KIF21A
BICC1
ALG12
CHKB
SBDS
CHRM3
CHRNA1
CHRNA2
CHRNA4
CHRNA7
CHRNB1
CHRNB2
CHRND
CHRNE
CHRNG
LYST
EIF2AK4
COQ4
ADAMTSL4
DISP1
DDHD1
POMT2
VSX2
UTP4
ISCA2
SCARF2
CITED2
SLC25A22
TECPR2
KIAA0586
AARS
GREM1
ZNF408
TTC8
ADSSL1
FLVCR2
GPR143
CHD8
DNAAF2
CLCN1
POLR1C
SLC35C1
CLCN2
B3GLCT
CLCN4
CLCN5
COQ6
SPRED1
CLCNKA
CLCNKB
NUBPL
TRIT1
SMOC1
CLDN1
PRICKLE2
ZDHHC15
VIPAS39
NDUFA11
NDUFB11
SPG21
SUMF1
POLR1D
UPF3B
MBD5
APOPT1
L2HGDH
CYP2U1
DHDDS
SLC24A5
CHD7
CLIC2
SLC25A26
PHF8
TPP1
GNB4
CLN3
CLN5
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB4A
TUBB
CLN8
CLPP
THAP1
SLC39A14
SLC39A13
LRIG2
BCOR
AARS2
CUL7
NDUFAF4
RSPH9
SERAC1
FARS2
TBC1D7
SEC63
RNF135
RMND1
FA2H
ANKRD11
SBF2
PDHX
ABHD5
RARS2
INPP5E
RFX6
DYX1C1
ACAD9
RSPH4A
AHI1
NHLRC1
KLC4
TSPAN12
VARS2
RNASET2
RNF216
CNTN1
ADAMTS2
VPS13B
COL11A1
AGK
COL11A2
COL12A1
ADAMTS3
COL13A1
COL17A1
COL18A1
KCTD7
COL1A1
COL1A2
COL2A1
COL3A1
COL4A1
COL4A2
COL4A3
COL4A4
COL4A5
VMA21
COL5A1
COL5A2
COL6A1
COL6A2
COL6A3
FAM20C
COL8A2
COL9A1
COL9A2
COL9A3
AP5Z1
COLQ
TMEM106B
COQ7
ADAR
COX10
COX15
COX6A1
COX6B1
GMPPA
KLHL13
GMPPB
COX8A
CP
MED13L
PEX26
GNPTG
PDSS2
ALG3
SLC13A5
SLC16A12
FAT4
TRMT5
SYT14
UNC13A
ALG6
ALG2
ALG8
PNPT1
CYP4V2
CPOX
MYH14
ZNF469
CPS1
UBA5
MYPN
CPT1A
ETHE1
CPT2
A2ML1
FREM1
C10orf11
DOLK
KIF1BP
CREBBP
DHTKD1
MORC2
VPS13D
ADCY5
CRLF1
GNE
ADCY6
MED23
PIKFYVE
CRTAP
INF2
SIPA1L3
ASXL2
CRYAA
CRYAB
CRYBA1
CRYBA4
CRYBB1
CRYBB2
NDUFA12
CRYBB3
APPL1
CRYGB
CRYGC
CRYGD
RNASEH2C
B9D1
CRYGS
CISD2
YARS2
PTRH2
ASCC1
TACO1
CSF1R
BOLA3
CHST14
WDR62
TCTN3
MMACHC
ATL3
TMEM98
CHMP2B
C2CD3
KANSL1
FAM126A
SIL1
VCAN
EHMT1
FLAD1
SMC3
CSRP3
CST3
CSTB
MOGS
NKX2-5
DCAF8
VPS37A
ZC4H2
NPRL2
CTDP1
TMEM216
MARS2
LRSAM1
CTNNB1
HOGA1
SLC25A46
COQ2
CTSC
CTSD
COQ9
CTSF
SLC30A10
CCDC8
TMEM126A
FREM2
RAB40AL
TANGO2
C19orf12
TRMU
VAC14
ANO10
CUL3
MTPAP
TMEM38B
DARS2
CUL4B
SETD5
CWF19L1
TBC1D23
TTC21B
OFD1
RNASEH2B
CARS2
KCTD17
PGAP1
GPATCH3
LAS1L
TRAPPC11
TCTN2
DCAF17
REEP1
C5orf42
SRD5A3
ORAI1
POMGNT2
FAM134B
CYP1B1
NSUN2
TTC19
CYP24A1
SDHAF2
CYP27A1
TMEM70
SLC25A38
PYROXD1
CTC1
MTMR14
CSPP1
FUZ
POMK
PIEZO2
NARS2
BBS10
HEPACAM
PTCHD1
NADK2
AGBL1
CYP7B1
HGSNAT
ZFYVE27
KY
DOK7
BBS12
DAG1
DARS
C12orf65
FOXRED1
TMEM138
DBT
DCN
ACE
DCTN1
DCX
ESCO2
DDOST
IBA57
ANO5
RBM20
DDX3X
TSEN54
DES
SLC6A19
XPNPEP3
LYRM7
NDUFAF2
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
TMEM67
TSEN2
STAC3
FAM58A
TMEM43
MFSD8
DGKE
EOGT
DGUOK
B3GALNT2
DHCR7
NDUFAF6
B9D2
DIS3L2
DHODH
FBXO38
MED25
NIPBL
MAGT1
DKC1
DNAJC12
CCDC22
WDR45
IQCB1
EMC1
DLAT
DLD
KIAA0196
RUBCN
PIEZO1
ABCA1
DLG3
CEP290
SPECC1L
SZT2
DSTYK
IQSEC2
DLL1
SMCHD1
OBSL1
ADSL
DLL4
PLEKHG5
DDHD2
FASTKD2
TBC1D24
SHROOM4
ARHGAP31
CC2D2A
DMD
CEP152
EPG5
ASXL3
DNA2
EARS2
DNAH11
CCBE1
SH3TC2
KIAA2022
TOR1AIP1
DNAH5
GPSM2
C12orf57
DNAI1
NEXN
UQCRQ
DYNC1H1
DYNC2H1
MEGF10
MTFMT
GNPTAB
MFAP5
SLC25A32
IARS2
DNM1L
DNM2
DNMT1
DNMT3A
DNMT3B
ISCU
NDUFAF3
COASY
TENM3
DPAGT1
BBS9
PACS1
PIK3R5
DPM1
DPM2
DPM3
POLR3A
HSPB8
STRADA
CRBN
ATP13A2
RFT1
SLC52A2
PREPL
CC2D1A
TUSC3
PNPO
PYCR2
DRP2
DNAJC13
POLR3B
DSC2
KLHL40
DSG2
DNAAF3
KIF7
PRRT2
DSP
SLC46A1
DNAJC19
DNAAF1
FDX2
TXNL4A
PARS2
SEPSECS
STT3B
STRA6
CLPB
SRPX2
TARS2
TMEM165
GATAD2B
UBIAD1
PNPLA2
TUBB2B
TDRD7
TRAPPC9
DVL1
EFTUD2
ALG13
TMEM126B
HUWE1
DYRK1A
DYSF
SECISBP2
TOR1A
ECEL1
TYMP
AFG3L2
ECHS1
EDN3
EDNRA
EDNRB
EEF1A2
AGL
EEF2
EFEMP2
EFNB1
CELSR3
CELSR2
EGR2
SLC38A8
ALG11
EIF2AK3
ZBTB42
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF2S3
AGRN
NKX2-6
TMEM114
ELN
AGT
EMD
EMP2
EMX2
ENG
AGTR1
ENTPD1
EP300
EPB41L1
AK9
COA5
EPHA2
SDHAF1
EPHB4
EPHX1
AGXT
EPM2A
ERBB3
ERCC1
ERCC2
ERCC5
ERCC6
ERCC8
ETFA
ETFB
ETFDH
EYA1
EZH2
ACSL4
FAH
FANCA
FANCB
FANCC
FANCG
FAT1
FBLN5
FBN1
FBN2
FKTN
FECH
FGD1
FGF14
FGF20
FGF8
FGFR1
FGFR2
FGFR3
FHL1
ATP8B1
KBTBD13
TMEM231
ISPD
FLNA
FLNB
FLNC
FLT4
FMR1
AFF2
AKAP9
FOLR1
FOLR2
FOLR3
FOXC1
FOXC2
FOXE3
FOXG1
FOXH1
FOXP1
AKR1D1
AKT1
AKT3
MTOR
PRSS56
ALAD
FXN
ALAS2
FTL
FUCA1
FUS
ALDH3A2
FZD4
G6PC
SLC37A4
GAA
GABRA1
GABRB1
GABRB3
GABRD
GABRG2
ALDH1A3
GAD1
GALC
B4GALNT1
GALK1
GALNS
GALT
GAMT
GAN
GARS
GATA3
GATA4
GATA6
GBA
GBE1
GCDH
GCH1
GCK
ABCB11
GCNT2
GCSH
GDF1
GDF3
GDF6
GDI1
GFAP
GFER
GFPT1
GJA1
GJA3
ALMS1
GJA8
GJB1
GK
GLA
GLB1
GLDC
GLE1
GLI2
GLI3
GLRA1
GLRB
GLUD1
GM2A
ALPL
GNAL
GNAO1
GNAQ
GNAS
GNB1
GNS
ALS2
GOSR2
SETX
GPC3
ALX3
ABCB4
ALX4
AMACR
ADGRG1
GPR88
TECR
GRHPR
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRM1
GRN
GSN
GTPBP2
AMPD1
AMPD2
GUSB
GYG1
ABCB6
AMT
HADH
ABCB7
HSD17B10
HADHA
HADHB
HARS
HARS2
ANG
HCCS
HCFC1
HCN1
HERC2
HESX1
HEXA
HEXB
HFE
HGF
HIBCH
HINT1
HK1
ANK2
ANK3
RIPK4
TRPA1
HMBS
HMX1
HNF4A
HNRNPA1
HNRNPA2B1
HNRNPDL
HNRNPU
HOXA1
HOXD13
HPCA
HPRT1
HRAS
HSD17B4
HSF4
DNAJB2
HSPB1
HSPB3
HSPD1
HSPG2
ABCC2
NOD2
ANXA11
IDH1
IDH2
IDS
IDUA
IFRD1
IGBP1
IGHMBP2
AP1S2
ABCC6
AP4B1
RBPJ
AP4E1
AP4M1
AP4S1
ABCC8
IKBKAP
IKBKG
IL1RAPL1
ABCC9
APOB
INS
INSR
ABCD1
FOXP3
PDX1
IRF6
APOE
ITGA3
ITGA7
ITGA8
STT3A
ITM2B
APOL1
ITPR1
IVD
JAG1
APP
JUP
ANOS1
KARS
KATNB1
KCNA1
KCNA2
KCNA4
KCNB1
KCNC1
KCNC3
KCND3
KCNE1
KCNE2
KCNE3
KCNH2
KCNH5
KCNJ1
KCNJ10
KCNJ11
KCNJ2
KCNJ5
KCNK3
KCNMA1
KCNQ1
KCNQ2
KCNQ3
KIF1C
KIF2A
KIF5A
KIF5C
KLHL3
KIF11
KPTN
KRAS
KRT3
L1CAM
LAMA2
LAMA5
LAMB1
LAMB2
LAMP2
LARGE1
LARS
COG1
LGI1
LIM2
LIPA
ARG1
LMNA
LMNB1
LMNB2
LMOD3
LMX1B
LRP2
LRP4
LRP5
LTBP2
LZTR1
MAB21L2
SMAD3
SMAD6
SMAD9
MAF
ARHGDIA
MAG
MAGEL2
MAN1B1
MAN2B1
MANBA
MAOA
MAP2K1
MAP2K2
ARHGEF6
MAPT
MARS
MAT2A
PHOX2A
MATR3
CHST6
MCM3AP
MCPH1
ARL6IP1
MECP2
MEF2C
MGAT2
MID1
MIP
MITF
MKKS
MKS1
ARSA
KMT2A
KMT2D
MME
MOCS1
MOCS2
MPDU1
MPI
MPV17
MPZ
MRAS
MRE11A
SEPT9
ASAH1
MTHFD1
MTHFR
MTM1
MTMR1
MTMR2
ASL
MTTP
MTRR
MUC1
TRIM37
MUSK
MUT
MYBPC1
MYBPC3
ASPA
MYF6
MYH11
ASPH
MYH2
MYH3
MYH6
MYH7
MYH8
MYH9
ASS1
MYL2
MYL3
MYLK
MYO1E
MYO5B
MYO9A
MYOC
MYOD1
NAGLU
NDP
NDRG1
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEB
NEDD4L
NEFH
NEFL
NEU1
NEUROD1
NF1
NFIX
NGF
NHS
NODAL
NOG
NOL3
NOTCH1
NOTCH2
NOTCH3
NPC1
NPHP1
NPHP3
NPHS1
ATM
NR1H4
NR2F1
NR2F2
NRAS
ATP1A2
NRXN1
ATP1A3
CNTNAP1
NT5C2
NTRK1
FRMD7
OCA2
OCLN
OCRL
ATP2A1
OPA1
OPA3
OPHN1
SIGMAR1
ATP5A1
ATP5E
OTC
OTX2
PABPN1
PAFAH1B1
PAK3
PARK2
PAX2
PAX3
PAX4
PAX6
PAX8
PC
PCCA
PCCB
ATP7A
ATP7B
CHMP1A
AIFM1
ALDH7A1
PDE2A
PDE8B
PDGFB
PDHA1
PDHB
PDK3
PDYN
SERPINF1
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX3
PEX6
ATRX
PEX7
PFKM
KIF1A
PGK1
ACADM
AUH
PGM1
PHGDH
PHKA1
PHKA2
PHKB
PHKG2
PHYH
SERPINA1
PIK3CA
PIK3R2
PIP5K1C
ACADS
PITX1
PITX2
PKD1
PKD2
PKHD1
PKP2
PLA2G6
PLEC
PLN
PLOD1
PLOD2
PLP1
PMM2
PMP2
PMP22
PHOX2B
PNKD
PNKP
PODXL
POLG
POLG2
ACADVL
POMT1
POR
B4GALT1
CTSA
PPIB
PDP1
PPOX
PPP1CB
B4GALT7
PPP2R2B
BAAT
PPT1
PQBP1
PRDM5
PRKAG2
BAG3
PRKCG
PRKCSH
PRKG1
PRKRA
DNAJC3
PRNP
PRPS1
HTRA1
LONP1
PSAP
SLC33A1
PSEN1
PSEN2
PTCH1
PTEN
PTPN11
BBS1
BBS2
PTPRO
PTRF
BBS4
PURA
PEX19
PEX2
PEX5
ALDH18A1
PYGL
PYGM
QARS
RAB7A
RAD21
RAF1
RAI1
RANBP2
BCKDHA
RAPSN
RARB
BCKDHB
RARS
RASA1
RASA2
RBM10
RBM8A
RECQL4
RELN
REN
RET
Enzephalopathien (mitochondrial/epileptisch) ID 265.02

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
TAZ
TBCD
TBCE
C10orf2
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
ADCK3
MFN2
STAMBP
CLP1
PRICKLE1
EXOSC8
MLC1
SYNE1
LARS2
NDUFA13
POLR1A
RRM2B
TRNT1
TPK1
ADGRV1
GJC2
PITRM1
SARS2
PDSS1
TXN2
ARX
SPATA5
PRIMA1
DEPDC5
RNASEH1
RNASEH2A
STX1B
PMPCA
ATPAF2
NDUFAF1
KCNT1
MMAA
ADCK4
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
APOPT1
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
FAM126A
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
C12orf65
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
GARS
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
KARS
KCNA2
KCNB1
KCNC1
KCND3
KCNH5
KCNQ2
KCNQ3
KIF5A
LAMA2
LAMP2
LARS
LGI1
ARG1
LMNB1
LMNB2
LRP4
MECP2
MEF2C
ARSA
MOCS1
MOCS2
MPV17
MRE11A
ASAH1
MTHFR
MTM1
MUSK
MUT
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
ATP5A1
ATP5E
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
QARS
RANBP2
RAPSN
RARS
RELN
Enzephalopathien (mitochondrial/epileptisch) ID 265.02

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
TAZ
TBCD
TBCE
C10orf2
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
ADCK3
MFN2
STAMBP
CLP1
PRICKLE1
EXOSC8
MLC1
SYNE1
LARS2
NDUFA13
POLR1A
RRM2B
TRNT1
TPK1
ADGRV1
GJC2
PITRM1
SARS2
PDSS1
TXN2
ARX
SPATA5
PRIMA1
DEPDC5
RNASEH1
RNASEH2A
STX1B
PMPCA
ATPAF2
NDUFAF1
KCNT1
MMAA
ADCK4
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
APOPT1
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
FAM126A
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
C12orf65
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
GARS
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
KARS
KCNA2
KCNB1
KCNC1
KCND3
KCNH5
KCNQ2
KCNQ3
KIF5A
LAMA2
LAMP2
LARS
LGI1
ARG1
LMNB1
LMNB2
LRP4
MECP2
MEF2C
ARSA
MOCS1
MOCS2
MPV17
MRE11A
ASAH1
MTHFR
MTM1
MUSK
MUT
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
ATP5A1
ATP5E
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
QARS
RANBP2
RAPSN
RARS
RELN
Hirnfehlbildungen / neuronale Migrationsstörungen - Gesamtpanel ID 144.04

Gen Panel (270 Gene )

RPL10
RPS6KA3
SGCE
SGSH
SHH
STIL
SIX3
SLC16A2
SLC2A1
SLC9A6
SMARCA2
SMARCA4
SMARCB1
SMARCE1
ARID1A
SMC1A
KDM5C
SMS
SOX3
SPTAN1
CDKL5
STUB1
STXBP1
SYN1
SYNGAP1
SYNJ1
SYP
TDGF1
TGIF1
TSPAN7
MED12
TREX1
TSC1
TSC2
TUBA8
TUBB2A
TUBG1
VLDLR
VRK1
ZIC2
ZNF711
ZNF81
ACTB
FTSJ1
HDAC8
NSDHL
PCLO
CNTNAP2
CACNA1H
CACNB4
NSD1
PCDH19
NLGN4X
NLGN3
ACTG1
ZEB2
CASK
CASR
MBTPS2
TSEN34
JAM3
CCND2
ARFGEF2
PANK2
PLCB1
SAMHD1
TOE1
EFHC1
RAB39B
SCARB2
CLP1
PRICKLE1
MLC1
CDON
CENPJ
BRWD3
NDE1
PORCN
CDK5
EXOSC3
ARID1B
ARX
PHF6
ATP6AP2
CECR1
DEPDC5
ZDHHC9
RNASEH2A
CDK5RAP2
NAA10
KCNT1
IFIH1
ASPM
THOC2
VPS13A
CHD2
CHRNA2
CHRNA4
CHRNB2
DISP1
SLC25A22
FLVCR2
CHD8
CLCN4
PRICKLE2
ZDHHC15
UPF3B
MBD5
PHF8
TPP1
CLN3
CLN5
TUBA1A
CLN6
TUBB3
TUBB4A
TUBB
TBC1D7
RNF135
RMND1
FA2H
RARS2
NHLRC1
RNASET2
KCTD7
COL4A1
COL4A2
ADAR
CP
KIF1BP
RNASEH2C
WDR62
SMC3
CSTB
RAB40AL
C19orf12
CUL4B
TBC1D23
OFD1
RNASEH2B
DCAF17
CYP27A1
CTC1
HEPACAM
PTCHD1
HGSNAT
DOK7
DARS
DCX
TSEN54
TSEN2
DIS3L2
NIPBL
MAGT1
DKC1
WDR45
DLG3
SZT2
IQSEC2
DLL1
TBC1D24
SHROOM4
CEP152
KIAA2022
GPSM2
POLR3A
ATP13A2
PNPO
POLR3B
KIF7
PRRT2
SEPSECS
SRPX2
TUBB2B
HUWE1
DYRK1A
EEF1A2
EIF2B3
EIF2B5
EIF2S3
EMX2
EPM2A
EZH2
FGD1
FGF8
FGFR3
FLNA
AFF2
FOXG1
FOXH1
AKT1
AKT3
MTOR
FTL
GABRA1
GABRD
GABRG2
GALC
GAMT
GDI1
GK
GLDC
GLI2
GLI3
GNAQ
GOSR2
GPC3
ADGRG1
GRIA3
GRIN2A
AMPD2
HSD17B10
HCFC1
HCN1
HERC2
HNRNPDL
HPRT1
IDS
IGBP1
AP1S2
IKBKAP
IL1RAPL1
ITM2B
KATNB1
KCNH5
KCNQ2
KCNQ3
KIF2A
KIF5C
KPTN
L1CAM
LAMB1
LGI1
MAOA
ARHGEF6
MCPH1
MECP2
MEF2C
MID1
ASAH1
MYBPC1
ASPA
NEDD4L
NEU1
NFIX
NODAL
NOL3
NOTCH3
NRXN1
OCLN
OPHN1
PAFAH1B1
PAK3
CHMP1A
ALDH7A1
PGK1
PHGDH
PIK3CA
PIK3R2
PLA2G6
PNKP
PPT1
PQBP1
HTRA1
PTCH1
PTEN
QARS
RAD21
RBM10
RELN

Einzelgenanalyse

Assoziierte Erkrankung(en)