Hybrid-Symposium

Tumorgenetik - von den Tumorrisiken bis zur Therapieplanung

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25. Juni 2022

9:00 - 12:35 Uhr


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SNAP25

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen
Material 2-4 ml EDTA-Blut
OMIM 600322

Gen-Panel-Analysen, die SNAP25 enthalten

Bewegungsstörungen - Gesamtpanel ID 233.02

Gen Panel (254 Gene )

RTN2
SACS
SCN2A
SCN8A
SGCE
SLC16A2
SLC1A3
SLC25A15
SLC2A1
SLC6A3
KDM5C
SNAP25
SNCA
BTD
SPG11
ATL1
SPAST
SPG7
SPR
SPTBN2
STUB1
SUCLA2
SYT1
TAF1
TBCD
C10orf2
TFG
TH
NKX2-1
TTPA
TTR
UBQLN2
UBTF
USP8
VAMP1
VCP
WWOX
XK
VPS35
ATP8A2
ERLIN2
FBXO7
FRRS1L
AAAS
CACNA1A
CACNA1B
CACNA1C
CACNA1G
ANO3
CACNB4
ELOVL4
NPC2
PINK1
SNX14
BSCL2
KMT2B
ABHD12
PANK2
NOP56
APTX
CCT5
SLC52A3
TGM6
PNPLA6
PARK7
NLRP3
CIZ1
ADCK3
DGAT2
ERLIN1
NIPA1
SYNE1
RAB3GAP2
BICD2
GJC2
ACY1
PDSS1
EXOSC3
REEP2
SPG20
CPT1C
LRRK2
PMPCA
IFIH1
GBA2
ADCK4
VPS13A
TTBK2
NKX6-2
LYST
COQ4
DDHD1
TECPR2
CLCN2
COQ6
SPG21
CYP2U1
ZFYVE26
TUBB4A
CLN8
THAP1
SLC39A14
FA2H
PDHX
KLC4
RNF216
COL6A3
AP5Z1
COQ7
ADAR
PDSS2
SYT14
UNC13A
CPS1
UBA5
VPS13D
ADCY5
TACO1
CSF1R
MMACHC
SIL1
VPS37A
MARS2
COQ2
COQ9
SLC30A10
C19orf12
VAC14
ANO10
MTPAP
DARS2
CWF19L1
RNASEH2B
KCTD17
PGAP1
REEP1
FAM134B
TTC19
CYP27A1
CYP7B1
ZFYVE27
C12orf65
DBT
IBA57
TSEN54
SLC6A19
DNAJC12
DLAT
KIAA0196
RUBCN
ABCA1
DDHD2
TOR1AIP1
DNM2
DNMT1
PIK3R5
ATP13A2
SLC52A2
PRRT2
TOR1A
AFG3L2
EEF2
EIF2B5
ENTPD1
ETFA
ETFB
ETFDH
FGF14
FXN
FTL
GAD1
GALC
B4GALNT1
GAN
GBA
GBE1
GCDH
GCH1
GFAP
GNAL
GNAO1
GNB1
ALS2
GOSR2
SETX
AMACR
GPR88
GRID2
GRM1
AMPD2
ABCB7
HEXA
HEXB
HPCA
HSD17B4
HSPD1
AP4B1
AP4E1
AP4M1
AP4S1
APOB
ABCD1
ITPR1
IVD
KCNA1
KCNA4
KCNC3
KCND3
KCNJ10
KCNMA1
KIF1C
KIF5A
L1CAM
ARG1
MAG
MARS
ARL6IP1
ARSA
MRE11A
MTHFR
ASL
MTTP
ASS1
NPC1
ATM
ATP1A3
NT5C2
OPA3
OTC
PARK2
ATP7B
PDE2A
PDE8B
PDHA1
PDYN
PEX6
PEX7
KIF1A
PHYH
PLA2G6
PLP1
PNKD
PNKP
PODXL
POLG
PPP2R2B
PRKCG
PRKRA
PRNP
SLC33A1
ALDH18A1
BCKDHA
BCKDHB
RELN
DxOme ID 111.07

Gen Panel (2896 Gene )

RGS9
RHO
GRK1
RIPK1
RIT1
RLBP1
RMRP
BCS1L
ROBO2
ROM1
ROR2
RORC
RP1
RP2
RP9
RPE65
RPGR
RPL10
RPL21
CFB
BFSP1
BFSP2
RPS6KA3
RRAS
RS1
RTN2
RUNX1
RUNX2
RYR1
RYR2
CNNM4
SACS
BIN1
SAG
SALL1
SALL2
SBF1
SC5D
BLK
BLM
SCN10A
SCN11A
SCN1A
SCN1B
SCN2A
SCN2B
SCN3A
SCN4A
SCN4B
SCN5A
SCN8A
SCN9A
SCNN1A
SCNN1B
SCNN1G
SCO1
SCO2
AIMP1
CWC27
BMP1
SDCCAG8
BMP15
SDHA
SDHB
SDHC
SDHD
BMP2
SEC23B
BMP4
BMP5
SEMA3A
SEMA3E
SEMA4A
BMP7
BMPR1A
BMPR1B
SF3B4
BMPR2
SFTPB
SFTPC
SGCA
SGCB
SGCD
SGCE
SGCG
SGPL1
SGSH
SH2D1A
SH3BP2
SHH
SHOX
ST3GAL3
ST3GAL5
STIL
SIM1
SIX1
SIX2
SIX3
SIX5
SIX6
VPS4B
SKI
SKIV2L
DST
SLC40A1
SLC12A1
SLC12A2
SLC12A3
SLC12A6
FOXL2
SLC16A1
SLC16A2
SLC17A5
SLC18A3
SLC19A1
SLC19A2
SLC1A3
SLC1A4
SLC20A2
SLCO1B1
SLCO1B3
SLC22A5
BRAF
SLC24A1
SLC24A4
SLC25A1
SLC25A12
SLC25A13
SLC25A15
SLC25A3
SLC25A4
SLC26A2
SLC27A4
SLC27A5
BRCA1
SLC2A1
BRCA2
SLC34A2
SLC35A1
SLC35A2
SLC35A3
SLC3A1
SLC4A1
SLC5A5
SLC6A1
SLC6A3
SLC6A5
SLC6A6
SLC6A8
SLC7A7
SLC7A9
SLC9A6
SNAI2
SMARCA2
SMARCA4
SMARCAL1
SMARCB1
SMARCC1
SMARCD2
SMARCE1
ARID1A
SMC1A
KDM5C
SMN1
SMPD1
SMPX
SMS
SNAP23
SNAP25
SNAP29
SNCA
SIK1
SNRPE
SNTA1
SOD1
CAPN15
SORD
SORL1
SOS1
SOS2
SOX10
SOX2
SOX21
SOX3
SOX9
BTD
SPG11
ATL1
SPAST
SPG7
SPINK1
SPINT2
SPP2
SPR
SPTA1
SPTAN1
SPTB
SPTBN2
SPTLC1
SPTLC2
SQSTM1
SRC
SRD5A2
SRP54
SRP72
SSBP1
SSR4
BTK
ST14
STAG1
STAG2
STAG3
STAR
STAT1
STAT2
STAT3
STAT5B
STIM1
STK11
AURKC
STK4
CDKL5
STS
STUB1
STX11
STX7
STXBP1
STXBP2
SUCLA2
SUCLG1
SULT2B1
SUOX
SURF1
BUB1B
SYCP2
SYN1
SYNGAP1
SYNJ1
SYP
SYT1
SYT2
BVES
TAC3
TACR3
EPCAM
TACSTD2
TAF1
TAF2
TAF4B
TALDO1
TAPBP
TARDBP
TAT
TAZ
TBCD
TBCE
TBK1
TBX1
TBX20
C10orf2
TBX22
TBX3
TBX4
TBX5
TBXA2R
TBXAS1
TCAP
HNF1A
TCF12
HNF1B
TCF3
TCF4
ZEB1
TCIRG1
TCN2
TCOF1
TDGF1
TECTA
TERC
TERT
TEX11
TEX14
TEX15
TFAP2A
TFG
TFR2
TFRC
TG
TGFB2
TGFB3
TGFBI
TGFBR1
TGFBR2
TGIF1
TGM1
TGM3
TGM5
TH
THBD
TCHH
ACO2
TIA1
KLF11
TIMM8A
TIMP3
TINF2
NKX2-1
TJP2
TK2
TKT
TLL1
TLR2
TLR3
TSPAN7
TMPRSS3
TNFAIP3
ACOX1
TNFRSF11A
TNFRSF11B
TNFRSF1A
TNFRSF4
CD40
FAS
CD27
TNFSF11
TNFSF12
CD40LG
FASLG
CD70
TNNC1
TNNI2
TNNI3
TNNT1
TNNT2
TNNT3
MED12
TNXB
TOP2B
TOP3A
TP53
TPM1
TPM2
TPM3
TPO
TPP2
TRAF3
TRDN
TREX1
SERPING1
TRHR
TRIP13
TRIP4
TRPC6
TRPS1
TRRAP
TSC1
TSC2
TSFM
TSHB
TSHR
TSPYL1
TST
MYOT
ACP5
TTN
TTPA
TTR
TUB
TUBA4A
C1QA
TUBA8
TUBB2A
TUBG1
C1QB
TUFM
TULP1
TWIST1
TWSG1
TYK2
TYR
C1QC
TYRP1
C1R
UBA1
C1S
UBE2A
C2
UBE3A
SUMO1
UBQLN2
UBTF
UCP3
UGT1A1
UMOD
UNC119
UNG
UPK3A
UQCRB
UQCRC2
UROD
UROS
USH1C
C21orf2
USH2A
CLRN1
USP8
USP9X
KDM6A
VAMP1
VAMP8
VAPB
VAV1
VAV2
VAX1
VCL
VCP
VDR
VEGFC
VHL
VIM
VLDLR
BEST1
VPS33B
VPS41
VRK1
VSX1
VWF
WAS
WIPF1
WDR1
WFS1
FOXN1
WNT1
WNT3
WNT4
WNT5A
WNT7A
WRN
WT1
WWOX
XK
XPA
XPC
XRCC2
XRCC4
YARS
ZAP70
ZIC2
ZIC3
ZMPSTE24
ACTA1
ACTA2
KAT6A
ZNF711
ZNF81
IKZF1
C3
ZP1
ZP2
ZP3
ACTB
ADAMTS10
AICDA
ARL6
BCL11A
BCL11B
LMBR1
FTSJ1
DUOX2
ESPN
MYOZ2
C5
HDAC8
LPIN1
MCOLN1
C6
NPHS2
NSDHL
PCLO
TRAF3IP2
RPGRIP1
SLC2A10
C7
SAMD9
UNC93B1
VPS35
SAMD9L
C8A
C8B
TMEM5
ATP8A2
C8G
IFT122
ERLIN2
C9
FBXO7
FBXL4
FRRS1L
SCUBE3
ADAMTS13
AAAS
DCHS1
POF1B
CTCF
CA2
CDH23
RGS19
ALOXE3
CA4
RELT
GFM1
PRX
NEUROG3
WNT10A
CNTNAP2
WDR11
ADGRA3
ADGRG6
CABP2
CABP4
BTG4
SH3KBP1
FAM65B
FOXP2
CACNA1A
ABCG5
ABCG8
CACNA1B
ITCH
CACNA1C
SERPINB7
ATOH7
CACNA1D
CACNA1F
CACNA1G
CACNA1H
CACNA1S
CACNA2D1
PRDM8
ANO3
CACNB2
SLC5A7
CACNB4
MRPS16
CACNG2
BACH2
ANLN
ARHGEF10
NPRL3
CCDC78
ARHGEF12
SLC25A20
BLNK
NSD1
CAD
RAB18
CD2AP
RAB23
PCDH19
NLGN4X
NLGN3
SHANK3
ACTC1
CRIPT
MKL1
EDARADD
HTRA2
NLRP1
ACPT
NHP2
NOP10
GP6
ACTG1
SLC25A19
SLC25A21
ELOVL4
CALM1
CALM2
LPIN2
SLC26A8
MRPS7
ACTG2
MRPS22
NPC2
WNK1
WNK4
CDHR1
ARHGEF9
VPS45
PINK1
VPS11
VPS16
CAMK2A
ADAMTS12
CAMK2B
PAPPA2
CDCA2
CDCA3
CDCA4
CDCA5
CDCA7
CRELD1
ADAMTSL2
ADAMTSL1
ABCA12
FYCO1
PCDH15
CAPN10
CAPN3
CAPN5
COG5
GTPBP3
ZEB2
DNAJB5
DNAJB6
ALX1
PPP1R15B
PXDN
CASK
SNX10
SNX14
CASP10
CASP14
CASP8
CASQ1
CASQ2
CASR
CAST
CAV1
CAV3
MICU1
CBL
PRPF31
SHOC2
MBTPS2
P2RX2
SERPINH1
SPINK5
GPHN
ADAM33
CBS
TSEN34
PUS1
VANGL2
VANGL1
LPAR6
JAM3
SPRY4
CHCHD10
IL36RN
SETBP1
SYTL3
HPS3
HAMP
NBAS
KLHL7
ALG9
B4GAT1
LDB3
LRPPRC
GEMIN4
APCDD1
OSBPL2
GATA5
OVOL2
GZF1
ANKRD1
CCND2
BSCL2
PROKR2
KMT2B
HPS4
ARFGEF2
PRPF6
RBCK1
KIZ
ABHD12
RTEL1
PANK2
NDUFAF5
NOP56
PLCB1
SALL4
SAMHD1
RP1L1
TOE1
GDAP1
TRIM2
TP63
APTX
ZNF341
SEPN1
RNF31
LIMS2
PGRMC1
TBC1D20
MCM8
CHMP4B
CCT5
SLC52A3
MGME1
COX4I2
DNAJC5
SUN5
SPTLC3
TGM6
TRAP1
SLC19A3
PNPLA6
NFU1
ACTN1
CD164
CD19
USH1G
WHRN
PARK7
OTOA
TRIM22
TRIM32
CARD9
CARD11
ACTN2
NLRP3
IL17F
EFHC1
DNAJC30
NLRC4
LIAS
SLC4A11
CARD14
SUFU
SLC45A2
NME8
RAB39B
BSND
TMC1
TMPRSS6
ACTN4
CHEK2
CD36
SLMAP
IFITM5
SCARB2
MRPL44
ZFPM2
CD3D
MCEE
CD3E
CIZ1
CD3G
CD247
CD4
CDC73
UBR1
ADCK3
LITAF
FIG4
MFN2
REC8
HCN4
CD59
SPEG
KLHL41
HAX1
HYOU1
DGAT2
ERLIN1
STAMBP
SRCAP
CFHR4
CD79A
CFHR3
CD79B
CLP1
TRIOBP
CD81
PRICKLE1
HPS5
EXOSC8
NIPA1
RPH3A
CARD8
CD8A
RAB3GAP1
TAB2
MLC1
SYNE2
ICOSLG
SYNE1
ARHGEF18
NCSTN
LARS2
EXOSC2
DICER1
TNPO3
CDON
ADAMTS17
ADAMTS18
CATSPER1
SLC39A4
OPTN
ARL2BP
ORC6
RAB3GAP2
PLCE1
CDC14A
TIRAP
NDUFA13
BICD2
DHX38
POLR1A
RRAS2
CENPJ
RIMS1
POT1
RRM2B
SP7
WAC
DTNBP1
PRPF8
TRNT1
BRWD3
PRPF3
PRPF4
TPK1
CDC45
CLCF1
ADGRV1
LRBA
CDC5L
CDC6
CDC7
CDH1
PPP2R3C
GJC2
ACVRL1
HOMER2
CDH15
KAT6B
IL17RD
NDE1
CDH3
DCLRE1B
DCLRE1C
NGLY1
PORCN
CDH7
PITRM1
RANGRF
SARS2
ACY1
PMFBP1
CDK4
CDK5
TNFRSF13C
PDSS1
TREM2
TXN2
MAP3K20
CDKN1B
CDKN1C
CDKN2A
INVS
NMNAT1
CDKN2B
PSMC3IP
EXOSC3
RDH11
CEP83
IRAK4
REEP2
B3GALT6
TRPM4
NAGS
FKRP
CDSN
TMC6
ARID2
ARID1B
ARX
WIF1
TRPV4
TRPV3
CCDC50
SPATA5
MFRP
SOX17
P2RY12
SYCP3
PHF6
MYO18B
TNFRSF13B
FKBP10
GIPC3
TMCO1
RCBTB1
SEC61A1
RAX2
CFC1
ALG1
ATP6AP2
ASXL1
PRIMA1
HSD3B7
PADI3
WDR19
TICAM1
IL17RC
CEBPE
IMPG2
HPSE2
CECR1
SETD2
DEPDC5
HAVCR2
PROK2
RNASEH1
ZDHHC9
CEL
ATP6V0A2
LIPH
CELSR1
RNF43
SPG20
RNASEH2A
STX1B
CPT1C
CCNO
IFNLR1
NEK9
ADA
LRRK2
COG4
COG6
COG7
COG8
FKBP14
IFT27
LDLRAP1
RTN4IP1
RTTN
RAX
PMPCA
CDK5RAP2
CRB2
NAA10
GRIP1
DNAI2
SLURP1
CFL2
RIN2
BBS7
ADAM10
POGZ
ATPAF2
CATSPER2
HPS6
NDUFAF1
CFTR
KCNT1
MMAA
IFIH1
LAT
TDP1
AP1S3
GBA2
CLUAP1
ADCK4
MASTL
ASPM
THOC2
VPS13A
NALCN
NPHP4
CHAT
FGD4
PSAT1
POMGNT1
TTBK2
CHD1L
CHD2
FRAS1
DOCK6
DOCK7
DOCK8
THADA
PLCZ1
TERF2IP
MTO1
P3H1
P3H2
NKX6-2
MMAB
KIF21A
BICC1
ALG12
CHKB
CHM
DPY19L2
SBDS
ADAM17
CHRM3
CHRNA1
CHRNA2
CHRNA4
CHRNB1
CHRNB2
CHRND
CHRNE
STXBP5
CHRNG
LYST
WEE2
EIF2AK4
RD3
COQ4
STXBP4
KCNV2
ADAMTSL4
DISP1
DDHD1
POMT2
EVC2
VSX2
TTC7A
UTP4
ISCA2
SCARF2
CITED2
PDZD3
SLC25A22
TECPR2
KIAA0586
TTLL5
RDH12
AARS
PCSK9
GREM1
ZNF408
TTC8
AK7
ADSSL1
ADAM22
FLVCR2
GPR143
SLC17A8
CHD8
DNAAF2
CLCN1
HFM1
POLR1C
SLC35C1
CLCN2
CACNA2D4
B3GLCT
CLCN4
CLCN5
COQ6
SPRED1
CLCN7
CLCNKA
CLCNKB
NUBPL
TRIT1
SLC30A8
SMOC1
CLDN1
POMP
PRICKLE2
ZDHHC15
VIPAS39
CLDN14
NDUFA11
NDUFB11
SPG21
SUMF1
CLDN19
KRT6C
POLR1D
SPATA7
UPF3B
MBD5
PADI6
POLR1B
BRIP1
TMC8
APOPT1
L2HGDH
CYP26B1
CYP2U1
DHDDS
SLC24A5
CHD7
CLIC2
SLC25A26
SCN3B
PHF8
SCFD1
TPP1
GNB4
CLN3
FANCL
CLN5
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB8
TUBB4A
TUBB
RHBDF2
CLN8
SLC35D1
CLPP
THAP1
SLC39A14
SLC39A13
LRIG2
BCOR
DZIP1
BLOC1S3
ZMYND15
AARS2
CUL7
NDUFAF4
PITPNM3
RSPH3
RSPH9
SERAC1
FARS2
TBC1D7
IYD
SEC63
SCD5
ZBTB24
GTF2H5
RNF135
RMND1
FA2H
PNPLA1
LHFPL5
NLRP5
DSG4
ANKRD11
SBF2
PDHX
ABHD5
RARS2
INPP5E
RFX6
CNGA1
MCM9
DYX1C1
ACAD9
CNGA3
CNGB1
DIABLO
CNGB3
EYS
RSPH4A
AHI1
NHLRC1
ADAM9
KLC4
SATB2
TSPAN12
VARS2
OSTM1
TOPORS
FSIP2
RSPO1
RNASET2
RNF216
CERKL
CNTN1
IRF2BP2
ANTXR2
ADAMTS2
COCH
VPS13B
COL10A1
COL11A1
AGK
COL11A2
COL12A1
ADAMTS3
COL13A1
COL17A1
COL18A1
KCTD7
COL1A1
COL1A2
COL2A1
COL3A1
COL4A1
COL4A2
COL4A3
NANOS3
COL4A4
COL4A5
COL4A6
VMA21
COL5A1
COL5A2
COL6A1
COL6A2
COL6A3
COL7A1
FAM20C
COL8A2
COL9A1
COL9A2
COL9A3
AP5Z1
COLQ
COMP
COPA
TMEM106B
COQ7
NOBOX
ADAR
CORO1A
COX10
COX15
COX6A1
FEZF1
COX6B1
GMPPA
KLHL13
GMPPB
NLRP12
COX8A
NLRP7
NLRP2
CP
MED13L
PEX26
COL27A1
FAM20A
GNPTG
LMBRD1
PDSS2
ARMC2
ALG3
TRAPPC2
SLC10A7
SLC13A5
SLC16A12
SLC29A3
FAT4
TRMT5
SYT14
UNC13D
UNC13A
FERMT3
ALG6
ALG2
ALG8
PNPT1
FANCM
CYP4V2
CPOX
MYH14
ZNF469
CPS1
UBA5
MYPN
CPT1A
ETHE1
CPT2
A2ML1
CR2
FREM1
ADCY3
C10orf11
DOLK
KIF1BP
CRB1
LIPN
CREBBP
DHTKD1
MORC2
HOOK3
VPS13D
ADCY5
TTC37
CRLF1
GNE
ADCY6
MED23
MED17
CERS3
PIKFYVE
CRTAP
INF2
SIPA1L3
ASXL2
CRX
SLX4
CRYAA
CRYAB
CRYBA1
CRYBA4
CRYBB1
CRYBB2
NDUFA12
CRYBB3
APPL1
ADIPOR1
CRYGB
CRYGC
CRYGD
ATP13A3
RNASEH2C
B9D1
CRYGS
CRYM
CISD2
YARS2
PTRH2
ASCC1
TACO1
CSF1R
CSF2RB
CSF3R
BOLA3
CHST14
POC1A
WDR62
TCTN3
MMACHC
ATL3
TMEM98
CHMP2B
C2CD3
KANSL1
CDT1
CIB2
FAM126A
SIL1
VCAN
EHMT1
CFHR5
FIGLA
FLAD1
SMC3
FLVCR1
CSRP3
CST3
LRIT3
FAM83H
CSTA
CSTB
G6PC3
MOGS
NKX2-5
DCAF8
VPS37A
PSMG2
ZC4H2
NPRL2
CTDP1
UBE2T
TMEM216
LRTOMT
CTLA4
REC114
ACD
CTNNA1
OTULIN
MARS2
LRSAM1
CTNNB1
CTNND1
HOGA1
CTNS
CTPS1
SLC25A46
MMADHC
COQ2
CTRC
ANO6
CTSC
CTSD
COQ9
CTSF
CFAP65
QRICH2
SLC30A10
CTSK
CCDC8
TMEM126A
FREM2
RAB40AL
TANGO2
C19orf12
TRMU
VAC14
ANO10
WRAP53
CUL3
MTPAP
TMEM38B
DARS2
RFWD3
CUL4B
SETD5
FANCI
VPS53
CXCR4
CWF19L1
TBC1D23
CFAP44
TTC21B
AAGAB
OFD1
RNASEH2B
GORAB
CARS2
KCTD17
PGAP1
CCDC51
GPATCH3
LAS1L
NHEJ1
CEP78
TRAPPC11
CYBA
TCTN2
CYBB
ARMC5
DCAF17
REEP1
EFL1
USB1
C5orf42
FAM161A
SRD5A3
GRHL3
ORAI1
CYP11A1
POMGNT2
CYP11B1
CYP11B2
CYP17A1
CYP19A1
KLHL24
FAM134B
CYP1B1
NSUN2
CYP21A2
TTC19
CYP24A1
PUS7
SDHAF2
TMEM127
CYP27A1
TMEM70
SLC25A38
CYP27B1
CFAP69
PALB2
AGBL5
PYROXD1
CTC1
MTMR14
CSPP1
C11orf80
OBFC1
FUZ
C3orf52
PDZD7
POMK
PIEZO2
NARS2
BBS10
SPEF2
C4orf26
ASPRV1
SEPT12
HEPACAM
PTCHD1
MARVELD2
NADK2
ZNF513
AGBL1
CYP7B1
LOXHD1
HGSNAT
HYLS1
ZFYVE27
KY
DOK7
BBS12
CD55
DAG1
RNF168
CFAP43
SYNE4
DARS
C12orf65
WDR72
CYP4F22
CCDC141
TPRN
OTOGL
ERCC6L2
JAGN1
FOXRED1
TMEM138
INO80
DBT
DCC
DNAJC21
DCN
ACE
CARMIL2
PIK3R6
DCTN1
DCX
DDB2
DDC
ESCO2
C8orf37
DDOST
ACSF3
IBA57
DDR2
FLCN
ANO5
MSRB3
RBM20
DDX3X
TSEN54
DES
CFD
SOHLH1
SLC6A19
TMEM173
GRHL2
NIPAL4
WDPCP
XPNPEP3
LYRM7
NDUFAF2
BBIP1
DFNA5
CCDC28B
CCDC115
COX14
ALG14
D2HGDH
SLC25A42
TMEM67
TRMT10A
TSEN2
STAC3
FAM58A
POLR3GL
FAAP24
TMEM43
MFSD8
WDR66
DGKE
EOGT
DGUOK
DHCR24
B3GALNT2
DHCR7
MEI1
NDUFAF6
B9D2
DIS3L2
DHODH
C17orf62
SAMD11
ILDR1
DIAPH1
DRAM2
FBXO38
MED25
SYCE1
NIPBL
MAGT1
LEMD3
DKC1
DNAJC12
CCDC22
WDR45
KRT74
IQCB1
EDAR
GPD1L
EMC1
DLAT
DLD
GINS1
KIAA0196
RUBCN
PIEZO1
ABCA1
FCHO1
PLEKHM1
DLG3
CEP290
SPECC1L
SZT2
DSTYK
IQSEC2
IFT140
DLL1
DLL3
SMCHD1
OBSL1
ADSL
DLL4
PLEKHG5
DDHD2
DLX3
FASTKD2
RPGRIP1L
DLX4
FAN1
ANKRD26
TBC1D24
SHROOM4
ARHGAP31
CC2D2A
DMC1
DMD
CEP152
KANK2
DMP1
DENND1A
SLC7A14
EPG5
DMRT1
ASXL3
DMXL2
DNA2
DNAH1
MYSM1
EARS2
DNAH11
CCBE1
SH3TC2
KIAA2022
TOR1AIP1
DNAH17
ROGDI
DNAH5
GPSM2
DFNB59
DNAH6
C12orf57
DNAI1
NEXN
KIAA0430
DNASE1L3
UQCRQ
DNASE2
DYNC1H1
DYNC2H1
MEGF10
MESP2
MTFMT
GNPTAB
MFAP5
SLC25A32
IARS2
DNM1L
DNM2
DNMT1
DNMT3A
DNMT3B
LAMTOR2
NSMF
DOCK2
ISCU
NDUFAF3
DONSON
COASY
SPATA16
TTC29
TENM3
DPAGT1
SDR9C7
BBS9
DPH1
PACS1
PIK3R5
DPM1
DPM2
DPM3
POLR3A
REEP6
PSENEN
DPYD
PRAC2
HSPB8
STRADA
SLC26A3
CRBN
ATP13A2
RFT1
SLC52A2
SPPL2A
PREPL
CC2D1A
TUSC3
PNPO
PYCR2
RGS9BP
DRP2
DNAJC13
POLR3B
DSC2
KLHL40
IFT172
DSG1
DSG2
DNAAF3
KIF7
PRRT2
DSP
SLC46A1
DNAJC19
DNAAF1
DSPP
FDX2
TXNL4A
PARS2
EXPH5
SEPSECS
STT3B
STRA6
CLPB
SRPX2
DUSP6
TARS2
STXBP5L
TMEM165
TTC21A
GATAD2B
TLE6
UBIAD1
CEP57
TMIE
PNPLA2
TUBB2B
TDRD7
TRAPPC9
POC1B
DVL1
EFTUD2
SNRNP200
DVL3
ALG13
TMEM126B
HUWE1
DYRK1A
LINS1
DYSF
SECISBP2
TOR1A
GPR179
ECEL1
TYMP
AFG3L2
ECHS1
EDA
GRXCR1
S1PR2
S1PR4
EDN3
EDNRA
AGA
EDNRB
ACAN
EEF1A2
LCA5
NBEAL2
CEACAM16
AGL
EEF2
EFEMP1
EFEMP2
EFNB1
CELSR3
CELSR2
EGR2
SLC38A8
ALG11
PRCD
EIF2AK3
ZBTB42
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF2S3
SLFN14
DUOXA2
AGPS
AGRN
NKX2-6
ELANE
AMTN
TMEM114
ELN
FLG2
AGT
EMD
EMP2
EMX2
ENAM
ENG
ENPP1
AGTR1
ENTPD1
PATL2
KHDC3L
EP300
EPAS1
EPB41L1
EPB42
AK9
COA5
EPHA2
SDHAF1
EPHB4
ABCA4
EPHX1
STX2
AGXT
EPM2A
EPS8
ERBB3
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
C2orf71
ERCC8
ERF
ESRRB
ETFA
ETFB
ETFDH
ETV6
EVC
FOXI3
EXTL3
EYA1
EYA4
EZH2
F10
F11
F12
F8
F9
ACSL4
FADD
FAH
AIP
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
AIPL1
FAT1
AIRE
FBLN5
FBN1
FBN2
FBP1
FCGR3A
AK2
FKTN
FCN3
FECH
FGA
FGB
FGD1
FGF10
FGF14
FGF17
FGF20
FGF3
FGF8
FGFR1
FGFR2
FGFR3
FGG
FH
FHL1
ATP8B1
KBTBD13
TMEM231
DTHD1
ISPD
FLG
FLI1
FLNA
FLNB
FLNC
FLRT3
FLT4
FMR1
AFF2
AKAP9
FOLR1
FOLR2
FOLR3
FOXC1
FOXC2
FOXE1
FOXE3
FOXG1
FOXH1
FOXP1
FPR1
AKR1D1
AKT1
AKT3
MTOR
PRSS56
ALAD
FXN
FSCN2
FSHB
FSHR
ALAS2
FTL
FUCA1
FUS
KDSR
ALDH3A2
FYB
FYN
FZD4
ISG15
G6PC
G6PD
SLC37A4
GAA
GABRA1
ALDH5A1
GABRB1
GABRB3
GABRD
GABRG2
ALDH1A3
GAD1
GALC
GALE
B4GALNT1
GALK1
GALNS
GALT
GAMT
GAN
GARS
ALDOB
GATA1
GATA2
GATA3
GATA4
GATA6
GATM
GBA
GBE1
GCDH
GCH1
GCK
ABCB11
GCNT2
GCSH
GDF1
GDF2
GDF3
GDF5
GDF6
GDF9
GDI1
GFAP
GFER
GFI1
GFI1B
GFPT1
GH1
GHR
GHRHR
ALK
GJA1
GJA3
ALMS1
GJA8
GJB1
GJB2
GJB3
GJB4
GJB6
GK
GLA
GLB1
TAP1
ALOX12B
GLDC
GLE1
GLI2
GLI3
GLRA1
GLRB
GLUD1
GM2A
ALPI
ALPL
GNAI3
GNAL
GNAO1
GNAQ
GNAS
GNAT1
GNAT2
GNB1
TAP2
GNRH1
GNRHR
GNS
ALS2
GOSR2
GP1BA
GP1BB
GP9
SETX
GPC3
GPC4
ALX3
ABCB4
ALX4
AMACR
KISS1R
ADGRG1
ADGRG2
GPR68
AMBN
GPR88
TECR
GRHPR
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRM1
GRM6
GRN
AMELX
GSC
GSN
GSS
AMH
AMHR2
AMMECR1
GTPBP2
GUCA1A
GUCA1B
AMPD1
GUCY2C
GUCY2D
AMPD2
GUSB
GYG1
ABCB6
GYS2
AMT
HADH
ABCB7
HSD17B10
HADHA
HADHB
HARS
HARS2
HBA1
HBA2
HBB
ANG
HCCS
HCFC1
HCN1
HELLS
HERC2
HESX1
HEXA
HEXB
CFH
HFE
HFE2
CFHR1
CFHR2
HGD
HGF
HIBCH
HINT1
ANK1
HK1
SLC39A7
ANK2
ANK3
RIPK4
TRPA1
HLCS
HMBS
HMGCL
HMGCS2
HMGA2
HMX1
HNF4A
HNRNPA1
HNRNPA2B1
HNRNPDL
HNRNPU
HOXA1
HOXA2
HOXB13
HOXD13
HPCA
HPD
HPRT1
HPS1
HR
HRAS
HS6ST1
HSD17B3
HSD17B4
HSD3B2
HSF2
HSF4
DNAJB2
HSPB1
HSPB3
HSPD1
HSPG2
ABCC2
TNC
HYAL1
NOD2
ANXA11
ICOS
IRF8
IDH1
IDH2
IDH3B
IDS
IDUA
CFI
SP110
IFNAR2
IFNGR1
IFNGR2
IFRD1
IGBP1
IGF1
IGF1R
IGF2
IGFALS
AP1B1
IGHMBP2
AP1S2
AP3B1
AP3D1
ABCC6
AP4B1
RBPJ
AP4E1
AP4M1
AP4S1
APC
IGLL1
ABCC8
XIAP
IGSF1
IKBKAP
IKBKB
IKBKG
IL10
IL10RA
IL10RB
IL11RA
IL12B
IL12RB1
IL17RA
IL18
IL1RAPL1
ABCC9
APOA1
IL1RN
IL21
IL21R
IL2RA
APOA2
IL2RG
IL6R
IL6ST
IL7R
APOB
IMPDH1
IMPG1
INS
INSL3
APOC2
INSR
ABCD1
APOC3
FOXP3
PDX1
IRAK1
IRF3
IRF6
IRF7
IRS1
IRS2
APOE
ITGA2
ITGA2B
ITGA3
ITGA6
ITGA7
ITGA8
ITGAM
ITGB2
ITGB3
ITGB4
ITGB6
ITK
STT3A
ITM2B
APOL1
ITPR1
IVD
JAG1
JAK1
JAK3
APP
JUP
ANOS1
KARS
KATNB1
KCNA1
KCNA2
KCNA4
KCNB1
KCNC1
KCNC3
KCND3
KCNE1
KCNE5
KCNE2
KCNE3
KCNH1
KCNH2
KCNH5
KCNJ1
KCNJ10
KCNJ11
KCNJ13
KCNJ2
KCNJ5
KCNJ8
KCNK3
KCNMA1
KCNQ1
KCNQ2
KCNQ3
KCNQ4
KIF1C
KIF2A
KIF5A
KIF5C
AQP1
AQP2
KISS1
KIT
KITLG
KLHL3
KLK4
AQP5
KIF11
KPTN
KRAS
KRT1
KRT10
KRT14
KRT16
KRT17
KRT2
AR
KRT3
KRT5
KRT6A
KRT6B
KRT9
KRT81
KRT83
KRT85
KRT86
L1CAM
LAMA2
LAMA3
LAMA5
LAMB1
LAMB2
ARCN1
LAMB3
LAMC2
LAMP2
RPSA
LARGE1
LARS
LBR
LCK
COG1
LDLR
LEP
LEPR
LGI1
LHB
LHCGR
LHX3
LIFR
LIG1
LIG4
LIM2
LIPA
ARG1
LMNA
LMNB1
LMNB2
LMOD3
LMX1A
LMX1B
LOXL2
LPL
LRAT
LRP2
LRP4
LRP5
LRP6
LSS
LTBP2
LTBP3
LTBP4
LYN
LYZ
LZTFL1
LZTR1
MAB21L2
MAD2L2
SMAD3
SMAD4
SMAD6
SMAD9
MAF
ARHGDIA
MAG
ARHGEF1
MAGEL2
MAK
MALT1
MAN1B1
MAN2B1
MANBA
MAOA
MAP1B
MAP2K1
MAP2K2
ARHGEF6
MAP3K14
RHOH
MAPT
MARS
MASP1
MASP2
MAT1A
MAT2A
MATN3
PHOX2A
MATR3
MAX
MBL2
MC3R
MC4R
MCCC1
MCCC2
CHST6
ARL3
MCM2
MCM3AP
MCM4
CD46
MCPH1
ARL6IP1
MDH2
MECP2
MEF2C
MEFV
MEN1
MERTK
MET
ARPC1B
MGAT2
CIITA
MID1
MIP
MITF
MKKS
MKS1
MLH1
ARSA
KMT2A
KMT2D
ARSB
TRPM1
MLYCD
MME
MMP20
ARSE
MOCS1
MOCS2
MPDU1
MPI
MPL
MPV17
MPZ
MRAS
MRE11A
MS4A1
SEPT9
MSH2
MSH3
MSH5
MSH6
ASAH1
MSN
MSX1
MSX2
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MTHFD1
MTHFR
MTM1
MTMR1
MTMR2
MT-ND1
MT-ND2
MT-ND3
MT-ND4
ASL
MT-ND4L
MT-ND5
MT-ND6
MTTP
MTR
MT-RNR1
MT-RNR2
MTRR
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
MUC1
TRIM37
MUSK
MUT
MUTYH
ASNS
MVK
MYBPC1
MYBPC3
ASPA
MYD88
MYF6
MYH11
ASPH
MYH2
MYH3
MYH6
MYH7
MYH8
MYH9
ASS1
MYL1
MYL2
MYL3
MYLK
MYO15A
MYO1E
MYO3A
MYO5A
MYO5B
MYO6
MYO7A
MYO9A
MYOC
MYOD1
MYT1
NAGA
NAGLU
NBN
NCF1
NCF2
NCF4
NSMCE3
NDP
NDRG1
NDST1
NDUFA1
NDUFA10
NDUFA2
NDUFA9
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEB
NEDD4L
ASTN1
NEFH
NEFL
NEK2
SERPINC1
NEU1
NEUROD1
NF1
NF2
NFAT5
NFIX
NFKB1
NFKB2
NFKBIA
NGF
NHS
NODAL
NOG
NOL3
NOTCH1
NOTCH2
NOTCH3
PNP
NPAS2
NPC1
NPHP1
NPHP3
NPHS1
ATF6
ATIC
NPR2
ATM
NR0B1
NR1H4
NR2E3
NR2F1
NR2F2
NR5A1
NRAS
ATP1A2
NRL
NRXN1
ATP1A3
CNTNAP1
NT5C2
NTHL1
NTN1
NTRK1
NTRK2
NUP62
FRMD7
NYX
OAS1
OAT
OCA2
OCLN
OCRL
ATP2A1
OPA1
OPA3
OPHN1
SIGMAR1
ATP4A
ATP5A1
ATP5E
ORC1
ORC4
OSMR
OTC
OTOF
OTOG
OTX2
ATP6V1B1
BLOC1S6
PABPN1
PAFAH1B1
PAH
PAK3
PANX1
PARK2
PARN
PAX1
PAX2
PAX3
PAX4
PAX6
PAX8
PAX9
PC
PCBD1
PCCA
PCCB
ATP6AP1
ATP7A
ATP7B
CHMP1A
PCSK1
PCYT1A
AIFM1
ALDH7A1
PDE1C
PDE2A
PDE6A
PDE6B
PDE6C
PDE6G
PDE6H
PDE8B
PDGFB
PDGFRA
PDHA1
PDHB
PDK3
SLC26A4
ATR
PDYN
SERPINF1
PEPD
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX3
PEX6
ATRX
PEX7
CFP
PFKM
KIF1A
PGK1
ACADM
AUH
PGM1
PGM3
PHGDH
PHKA1
PHKA2
PHKB
PHKG2
PHYH
SERPINA1
SERPINB6
SERPINB8
AVPR2
PIK3C2A
PIK3C2B
PIK3C2G
PIK3C3
PIK3CA
PIK3CB
PIK3CD
PIK3CG
PIK3R1
PIK3R2
PIK3R3
PIK3R4
PIP5K1C
ACADS
PITX1
PITX2
PKD1
PKD2
PKHD1
PKLR
PKP1
PKP2
PLA2G4C
PLA2G5
PLA2G6
AXIN2
PLAG1
PLAU
PLCB3
PLCB4
PLCG2
PLEC
PLG
PLN
PLOD1
PLOD2
PLP1
PLS1
PLXNA1
ACADSB
PMM2
PMP2
PMP22
PMS1
PMS2
B2M
PHOX2B
PNKD
PNKP
PODXL
POLA1
POLD1
POLD2
POLE
POLE2
POLG
POLG2
ACADVL
POMC
POMT1
POR
POU1F1
POU3F4
POU4F3
B3GAT3
B4GALT1
CTSA
PPIB
PDP1
PPOX
PPP1CB
ACAT1
B4GALT7
PPP2R2B
BAAT
PPT1
PQBP1
PRDM5
SLC26A5
PRF1
PRKACG
PRKAG2
PRKAR1A
BAG3
PRKCD
PRKCG
PRKD1
PRKCSH
PRKDC
PRKG1
PRKRA
DNAJC3
PRNP
PROC
PROM1
PROP1
PROS1
PRPS1
PRSS1
HTRA1
LONP1
PSAP
SLC33A1
BAP1
PSEN1
PSEN2
NKX3-2
BARD1
PSMA3
PSMB4
PSMB8
PSMB9
PSTPIP1
PTCH1
PTCH2
PTDSS1
PTEN
PTGER3
PTGIR
PTGS1
PTH1R
PTPN11
BBS1
PTPRC
BBS2
PTPRO
PTPRQ
PTRF
PTS
BBS4
BBS5
PURA
NECTIN1
PEX19
PEX2
PEX5
PYCR1
ALDH18A1
PYGL
PYGM
QARS
QDPR
RAB27A
RAB28
RAB7A
RAC2
RAD21
RAD50
RAD51C
RAD51D
RAF1
BCHE
RAG1
RAG2
RAI1
RANBP2
BCKDHA
RAPSN
RARB
BCKDHB
RARS
RASA1
RASA2
RASGRP1
RB1
BCL10
RBM10
RBM8A
RBP3
RBP4
RDH5
PRPH2
RDX
RECQL4
REL
RELA
RELB
RELN
REN
REST
RET
RFX5
RFXANK
RFXAP
RGR
Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.03

Gen Panel (189 Gene )

RYR1
BIN1
SCN4A
AIMP1
SGCA
SGCB
SGCD
SGCG
SLC22A5
SLC25A1
SLC35A3
SNAP25
SYT2
TCAP
TGFBR2
TK2
TNNI2
TNNT1
TNNT3
TPM2
TPM3
TRIP4
MYOT
TTN
TUBB2A
UBA1
VPS33B
ZMPSTE24
ACTA1
ACTB
LPIN1
TMEM5
ADGRG6
CCDC78
ACTG1
CAPN3
DNAJB6
CAV3
TSEN34
B4GAT1
LDB3
GDAP1
SEPN1
SLC52A3
TRIM32
MFN2
SPEG
KLHL41
SYNE2
SYNE1
BICD2
RRM2B
EXOSC3
FKRP
TRPV4
FKBP10
NEK9
FKBP14
CFL2
NALCN
CHAT
POMGNT1
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
POMT2
VIPAS39
SLC25A26
ABHD5
CNTN1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
FAM20C
COLQ
GMPPB
ALG2
CPT2
GNE
ADCY6
CRYAB
ASCC1
CHST14
SIL1
ZC4H2
CTDP1
CUL4B
LAS1L
POMGNT2
POMK
PIEZO2
DOK7
IBA57
ANO5
TSEN54
DES
ALG14
TSEN2
TMEM43
B3GALNT2
ADSL
DMD
DYNC1H1
DYNC2H1
MEGF10
DNM2
ISCU
DPAGT1
DPM2
KLHL40
SEPSECS
PNPLA2
TUBB2B
DYSF
TOR1A
ECEL1
AGL
EGR2
ZBTB42
AGRN
EMD
ERBB3
ERCC6
ETFA
ETFB
ETFDH
FBN2
FKTN
FGFR2
FHL1
KBTBD13
ISPD
FLNB
FLNC
GAA
GARS
GBA
GBE1
GFPT1
GLE1
HADH
HADHA
HADHB
RIPK4
HRAS
HSPG2
IGHMBP2
FOXP3
ITGA7
LAMA2
LAMB2
LAMP2
LARGE1
LMNA
LMOD3
MAGEL2
MATR3
MPZ
MTM1
MTMR1
MUSK
MYBPC1
MYH2
MYH3
MYH7
MYH8
MYO9A
MYOD1
NEB
NEFL
CNTNAP1
PFKM
ACADM
PHGDH
PIP5K1C
ACADS
PLEC
PLOD2
POLG
ACADVL
POMT1
BAG3
PYGM
RAPSN