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