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NGS Primary immunodeficiency PID

Panel name NGS Primary immunodeficiency PID
Panel method WES-based NGS
Panel version ** PIDv9
Panel quality *** C
Core-NL No core-NL genes included
CNV analysis No
Note Coverage gegevens volgen nog.
Location Location AMC
Genes (559) Quality % coverage >30 % coverage >20 Core-NL Note
AAAS C
AARS2 C
ABCB7 C
ABCD1 C
ABHD12 C
ACTB C
ADAR C
ADCY5 C
ADGRG1 C
ADPRS C
AFG3L2 C
AGTPBP1 C
AIMP1 C
ALDH18A1 C
ALDH3A2 C
ALS2 C
AMPD2 C
ANO10 C
ANO3 C
AP4B1 C
AP4E1 C
AP4M1 C
AP4S1 C
AP5Z1 C
APTX C
ARG1 C
ARL6IP1 C
ARSA C
ARX C
ASPA C
ATCAY C
ATG5 C
ATL1 C
ATM C
ATP13A2 C
ATP1A2 C
ATP1A3 C
ATP2B3 C
ATP6AP2 C
ATP7B C
ATP8A2 C
AUH C
B4GALNT1 C
BCAP31 C
BCKDHA C
BCKDHB C
BSCL2 C
BTD C
C12orf65 C
C19orf12 C
CA8 C
CACNA1A C
CACNA1B C
CACNA1E C
CACNA1G C
CACNB4 C
CAMTA1 C
CAPN1 C
CCDC88C C
CCT5 C
CHMP1A C
CHP1 C
CIZ1 C
CLCN2 C
CLCN4 C
CLPB C
COASY C
COL4A1 C
COL6A3 C
COQ2 C
COQ4 C
COQ8A C
COQ9 C
COX20 C
CP C
CPT1C C
CSF1R C
CSTB C
CTBP1 C
CUL7 C
CUL7 C
CWF19L1 C
CYB5R3 C
CYP27A1 C
CYP2U1 C
CYP7B1 C
DAB1 C
DARS1 C
DARS2 C
DBT C
DCAF17 C
DCC C
DCTN1 C
DDC C
DDHD1 C
DDHD2 C
DHDDS C
DLAT C
DLD C
DNAJC12 C
DNAJC3 C
DNAJC6 C
DNAL4 C
DNMT1 C
DPYS C
DSTYK C
ECHS1 C
EEF2 C
EIF2B1 C
EIF2B2 C
EIF2B3 C
EIF2B4 C
EIF2B5 C
EIF4G1 C
ELOVL4 C
ELOVL5 C
ENTPD1 C
ERLIN1 C
ERLIN2 C
ETHE1 C
EXOSC3 C
EXOSC5 C
FA2H C
FAM126A C
FAR1 C
FARS2 C
FAT2 C
FBXO7 C
FGF14 C
FLVCR1 C
FOLR1 C
FOXG1 C
FRMD7 C
FTL C
FUS C
FXN C
GALC C
GAN C
GBA C
GBA2 C
GBE1 C
GCDH C
GCH1 C
GDAP2 C
GFAP C
GJC2 C
GLB1 C
GNAL C
GOSR2 C
GPR143 C
GRID2 C
GRIN1 C
GRIN2B C
GRM1 C
HACE1 C
HEXB C
HK1 C
HPCA C
HPDL C
HPRT1 C
HSD17B4 C
HSPD1 C
HTRA2 C
IBA57 C
IFRD1 C
ISCA2 C
ITPR1 C
JAM2 C
JAM3 C
KATNB1 C
KCNA1 C
KCNA2 C
KCNC1 C
KCNC3 C
KCND3 C
KCNJ10 C
KCNJ6 C
KCNMA1 C
KCTD17 C
KCTD7 C
KIDINS220 C
KIF1A C
KIF1C C
KIF5A C
KMT2B C
L1CAM C
LAMA1 C
LAMB1 C
LMNB1 C
MAG C
MAPK8IP3 C
MARS2 C
MECP2 C
MECR C
MFF C
MICU1 C
MLC1 C
MMADHC C
MME C
MRE11 C
MTHFR C
MTPAP C
MTTP C
MVK C
MYBPC1 C
MYORG C
NANS C
NEFL C
NEU1 C
NEXMIF C
NFASC C
NGLY1 C
NIPA1 C
NKX2-1 C
NKX6-2 C
NOL3 C
NPC1 C
NPC2 C
NT5C2 C
NUP62 C
OCLN C
OPA1 C
OPHN1 C
PACS2 C
PANK2 C
PARK7 C
PAX6 C
PCNA C
PCYT2 C
PDE10A C
PDE8B C
PDGFB C
PDGFRB C
PDHA1 C
PDHX C
PDSS1 C
PDSS2 C
PDYN C
PEX10 C
PEX2 C
PEX7 C
PHYH C
PIK3R5 C
PLA2G6 C
PLD3 C
PLP1 C
PMM2 C
PMPCA C
PNKD C
PNKP C
PNPLA6 C
POLG C
POLR1C C
POLR3A C
POLR3B C
PPP2R2B C
PREPL C
PRF1 C
PRICKLE1 C
PRKCG C
PRKN C
PRKRA C
PRRT2 C
PSAP C
PTRH2 C
PTS C
PUM1 C
PYCR2 C
QDPR C
RAB18 C
RAB3GAP1 C
RAB3GAP2 C
RAD51 C
RARB C
RARS1 C
RARS2 C
REEP1 C
RETREG1 C
RNASEH2A C
RNASEH2B C
RNASEH2C C
RNF170 C
RNF216 C
RTN2 C
RUBCN C
SACS C
SAMD9L C
SAMHD1 C
SCN11A C
SCN1A C
SCN2A C
SCN8A C
SCYL1 C
SEPSECS C
SERAC1 C
SETX C
SGCE C
SIL1 C
SLC12A6 C
SLC16A2 C
SLC17A5 C
SLC19A3 C
SLC1A3 C
SLC20A2 C
SLC20A2 C
SLC25A15 C
SLC25A15 C
SLC2A1 C
SLC2A1 C
SLC30A10 C
SLC30A10 C
SLC33A1 C
SLC33A1 C
SLC39A14 C
SLC39A14 C
SLC52A2 C
SLC52A2 C
SLC52A3 C
SLC52A3 C
SLC6A19 C
SLC6A19 C
SLC6A3 C
SLC6A3 C
SLC9A1 C
SLC9A1 C
SMPD1 C
SMPD1 C
SNCA C
SNCA C
SNORD118 C
SNORD118 C
SNX14 C
SNX14 C
SOX10 C
SOX10 C
SPART C
SPART C
SPAST C
SPAST C
SPG11 C
SPG11 C
SPG21 C
SPG21 C
SPG7 C
SPG7 C
SPR C
SPR C
SPTBN2 C
SPTBN2 C
STUB1 C
STUB1 C
SUCLA2 C
SUCLA2 C
SUCLG1 C
SUCLG1 C
SUMF1 C
SUMF1 C
SUOX C
SUOX C
SURF1 C
SURF1 C
SYNE1 C
SYNE1 C
SYT14 C
SYT14 C
TAF1 C
TAF1 C
TANGO2 C
TANGO2 C
TBC1D20 C
TBC1D20 C
TBC1D23 C
TBC1D23 C
TBCD C
TBCD C
TDP1 C
TDP1 C
TDP2 C
TDP2 C
TECPR2 C
TECPR2 C
TENM4 C
TENM4 C
TFG C
TFG C
TGM6 C
TGM6 C
TH C
TH C
THAP1 C
THAP1 C
TIMM8A C
TIMM8A C
TMEM106B C
TMEM106B C
TMEM240 C
TMEM240 C
TMEM67 C
TMEM67 C
TNFRSF4 C
TNFRSF4 C
TNFRSF9 C
TNFRSF9 C
TNFSF11 C
TNFSF11 C
TNFSF12 C
TNFSF12 C
TOE1 C
TOE1 C
TOP2B C
TOP2B C
TOR1A C
TOR1A C
TPP1 C
TPP1 C
TPP2 C
TPP2 C
TRAC C
TRAC C
TRAF3 C
TRAF3 C
TRAF3IP2 C
TRAF3IP2 C
TREM2 C
TREM2 C
TREX1 C
TREX1 C
TREX1 C
TREX1 C
TRIM22 C
TRIM22 C
TRNT1 C
TRNT1 C
TRPC3 C
TRPC3 C
TSEN2 C
TSEN2 C
TSEN54 C
TSEN54 C
TTBK2 C
TTBK2 C
TTC19 C
TTC19 C
TTC37 C
TTC37 C
TTC7A C
TTC7A C
TTPA C
TTPA C
TUBA1A C
TUBA1A C
TUBB4A C
TUBB4A C
TUBG1 C
TUBG1 C
TWNK C
TWNK C
TYK2 C
TYK2 C
TYROBP C
TYROBP C
UBA1 C
UBA1 C
UBA5 C
UBA5 C
UBAP1 C
UBAP1 C
UBQLN2 C
UBQLN2 C
UCHL1 C
UCHL1 C
UNC13D C
UNC13D C
UNC93B1 C
UNC93B1 C
UNG C
UNG C
USB1 C
USB1 C
USP18 C
USP18 C
VAMP1 C
VAMP1 C
VARS2 C
VARS2 C
VAV1 C
VAV1 C
VCP C
VCP C
VLDLR C
VLDLR C
VPS11 C
VPS11 C
VPS13A C
VPS13A C
VPS13B C
VPS13B C
VPS13C C
VPS13C C
VPS13D C
VPS13D C
VPS16 C
VPS16 C
VPS35 C
VPS35 C
VPS37A C
VPS37A C
VPS45 C
VPS45 C
VPS53 C
VPS53 C
VRK1 C
VRK1 C
VWA3B C
VWA3B C
WAS C
WAS C
WASHC5 C
WASHC5 C
WDR1 C
WDR1 C
WDR26 C
WDR26 C
WDR45 C
WDR45 C
WDR73 C
WDR73 C
WDR81 C
WDR81 C
WFS1 C
WFS1 C
WIPF1 C
WIPF1 C
WRAP53 C
WRAP53 C
WWOX C
WWOX C
XIAP C
XIAP C
XK C
XK C
XPR1 C
XPR1 C
XRCC1 C
XRCC1 C
YIPF3 C
ZAP70 C
ZAP70 C
ZBTB24 C
ZBTB24 C
ZC4H2 C
ZC4H2 C
ZFYVE26 C
ZFYVE26 C
ZFYVE27 C
ZFYVE27 C
ZNF341 C
ZNF341 C
ZNF592 C
Indication(s)
Primary immunodeficiency PID

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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