NGS Primary immunodeficiency PID

Panel name	NGS Primary immunodeficiency PID
Panel method	WES-based NGS
Panel version **	GF-PIDv13
Panel quality ***	C
Core-NL	No core-NL genes included
CNV analysis	No
Note	Coverage gegevens volgen nog.
Location	Location AMC

Genes (475)	Quality	% coverage >30	% coverage >20	Core-NL	Note
ACD	C
ACP5	C
ACTB	C
ADA	C
ADA2	C
ADAM17	C
ADAR	C
AGA	C
AICDA	C
AIRE	C
AK2	C
ALG13	C
ALPI	C
ALPK1	C
ANGPT1	C
AP1S3	C
AP3B1	C
AP3D1	C
APOL1	C
ARHGEF1	C
ARPC1B	C
ATAD3A	C
ATG4A	C
ATM	C
ATP6AP1	C
B2M	C
BACH2	C
BCL10	C
BCL11B	C
BLK	C
BLM	C
BLNK	C
BLOC1S6	C
BTK	C
C1QA	C
C1QB	C
C1QC	C
C1R	C
C1S	C
C2	C
C2orf69	C
C3	C
C5	C
C6	C
C7	C
C8A	C
C8B	C
C8G	C
C9	C
CA2	C
CARD10	C
CARD11	C
CARD14	C
CARD9	C
CARMIL2	C
CASP10	C
CASP8	C
CAVIN1	C
CCBE1	C
CD19	C
CD247	C
CD27	C
CD28	C
CD3D	C
CD3E	C
CD3G	C
CD4	C
CD40	C
CD40LG	C
CD46	C
CD55	C
CD59	C
CD70	C
CD79A	C
CD79B	C
CD81	C
CD8A	C
CDC42	C
CDCA7	C
CDKN2B	C
CEBPE	C
CFB	C
CFD	C
CFH	C
CFI	C
CFP	C
CFTR	C
CHD7	C
CHUK	C
CIB1	C
CIITA	C
CLCN7	C
CLEC4D	C
CLEC7A	C
CLPB	C
COPA	C
COPG1	C
CORO1A	C
CR2	C
CRACR2A	C
CREBBP	C
CSF2RA	C
CSF2RA	C
CSF2RB	C
CSF3R	C
CTC1	C
CTLA4	C
CTNNBL1	C
CTPS1	C
CTSC	C
CXCR2	C
CXCR4	C
CYBA	C
CYBB	C
CYBC1	C
DBR1	C
DCLRE1B	C
DCLRE1C	C
DEF6	C
DGAT1	C
DHFR	C
DIAPH1	C
DKC1	C
DNAJC21	C
DNASE1	C
DNASE1L3	C
DNASE2	C
DNMT3B	C
DOCK2	C
DOCK8	C
ELANE	C
ELF4	C
EPG5	C
ERBIN	C
ERCC2	C
ERCC3	C
ERCC6L2	C
EXTL3	C
F12	C
FAAP24	C
FADD	C
FAS	C
FASLG	C
FAT4	C
FCGR3A	C
FCHO1	C
FCN3	C
FERMT1	C
FERMT3	C
FNIP1	C
FOXI3	C
FOXN1	C
FOXP3	C
FPR1	C
G6PC1	C
G6PC3	C
G6PD	C
GATA2	C
GFI1	C
GINS1	C
GJC2	C
GRHL2	C
GTF2H5	C
HAVCR2	C
HAX1	C
HCK	C
HELLS	C
HMOX1	C
HS3ST6	C
HYOU1	C
ICOS	C
ICOSLG	C
IFIH1	C
IFNAR1	C
IFNAR2	C
IFNG	C
IFNGR1	C
IFNGR2	C
IGHM	C
IGLL1	C
IKBKB	C
IKBKG	C
IKZF1	C
IKZF2	C
IKZF3	C
IL10	C
IL10RA	C
IL10RB	C
IL12B	C
IL12RB1	C
IL17F	C
IL17RA	C
IL17RC	C
IL18BP	C
IL1RN	C
IL2	C
IL21	C
IL21R	C
IL2RA	C
IL2RB	C
IL2RG	C
IL36RN	C
IL6R	C
IL6ST	C
IL7R	C
INO80	C
INSR	C
IRAK1	C
IRAK4	C
IRF2BP2	C
IRF3	C
IRF4	C
IRF7	C
IRF8	C
IRF9	C
ISG15	C
ITCH	C
ITGB2	C
ITK	C
ITPKB	C
ITPR3	C
IVNS1ABP	C
JAGN1	C
JAK1	C
JAK2	C
JAK3	C
KDM6A	C
KMT2A	C
KMT2D	C
KNG1	C
KRAS	C
LACC1	C
LAMTOR2	C
LAT	C
LCK	C
LCP2	C
LIG1	C
LIG4	C
LPIN2	C
LRBA	C
LRRC8A	C
LSM11	C
LYST	C
MAGT1	C
MALT1	C
MAN2B1	C
MAN2B2	C
MANBA	C
MAP1LC3B2	C
MAP3K14	C
MAPK8	C
MASP2	C
MC2R	C
MCM10	C
MCM4	C
MEFV	C
MOGS	C
MPEG1	C
MRTFA	C
MS4A1	C
MSN	C
MTHFD1	C
MVK	C
MYD88	C
MYOF	C
MYSM1	C
NBAS	C
NBN	C
NCF1	C
NCF2	C
NCF4	C
NCKAP1L	C
NCSTN	C
NFAT5	C
NFE2L2	C
NFKB1	C
NFKB2	C
NFKBIA	C
NHEJ1	C
NHP2	C
NLRC4	C
NLRP1	C
NLRP12	C
NLRP3	C
NOD2	C
NOP10	C
NOS2	C
NRAS	C
NSMCE3	C
OAS1	C
ORAI1	C
OSTM1	C
OTULIN	C
PARN	C
PAX1	C
PAX5	C
PBX1	C
PCCA	C
PCCB	C
PDCD1	C
PEPD	C
PGM3	C
PIGA	C
PIK3CD	C
PIK3CG	C
PIK3R1	C
PLCG2	C
PLEKHM1	C
PLG	C
PMM2	C
PNP	C
POLA1	C
POLE2	C
POLR3F	C
POMP	C
POT1	C
POU2AF1	C
PRF1	C
PRKCD	C
PRKDC	C
PRPS1	C
PSENEN	C
PSMA3	C
PSMB4	C
PSMB8	C
PSMB9	C
PSMG2	C
PSTPIP1	C
PTPN22	C
PTPRC	C
RAB27A	C
RAC2	C
RAG1	C
RAG2	C
RANBP2	C
RASGRP1	C
RASGRP2	C
RBCK1	C
RC3H1	C
RECQL4	C
REL	C
RELA	C
RELB	C
RFX5	C
RFXANK	C
RFXAP	C
RHOG	C
RHOH	C
RIGI	C
RIPK1	C
RMRP	C
RNASEH2A	C
RNASEH2B	C
RNASEH2C	C
RNF168	C
RNF31	C
RNU4ATAC	C
RNU7-1	C
RORC	C
RPA1	C
RPSA	C
RSPH9	C
RTEL1	C
SAMD9	C
SAMD9L	C
SAMHD1	C
SASH3	C
SAT1	C
SBDS	C
SEC61A1	C
SEMA3E	C
SERAC1	C
SERPING1	C
SH2B3	C
SH2D1A	C
SH3BP2	C
SH3KBP1	C
SKIC2	C
SKIC3	C
SLC29A3	C
SLC35A1	C
SLC35C1	C
SLC37A4	C
SLC39A4	C
SLC39A7	C
SLC46A1	C
SLC7A7	C
SMARCAL1	C
SMARCD2	C
SNORA31	C
SNX10	C
SOCS1	C
SOCS4	C
SP110	C
SPI1	C
SPINK5	C
SPPL2A	C
SRP72	C
STAT1	C
STAT2	C
STAT2	C
STAT3	C
STAT4	C
STAT5B	C
STAT6	C
STIM1	C
STING1	C
STK4	C
STN1	C
STX11	C
STXBP2	C
SYK	C
TAFAZZIN	C
TAP1	C
TAP2	C
TAPBP	C
TBX1	C
TBX21	C
TCF3	C
TCIRG1	C
TCN2	C
TERC	C
TERT	C
TET2	C
TFRC	C
TGFB1	C
THBD	C
TICAM1	C
TINF2	C
TIRAP	C
TLR3	C
TLR4	C
TLR7	C
TLR8	C
TMC6	C
TMC8	C
TNFAIP3	C
TNFRSF11A	C
TNFRSF13B	C
TNFRSF13C	C
TNFRSF1A	C
TNFRSF4	C
TNFRSF9	C
TNFSF11	C
TNFSF12	C
TNFSF13	C
TOM1	C
TOP2B	C
TPP2	C
TRAC	C
TRAF3	C
TRAF3IP2	C
TREX1	C
TRIM22	C
TRNT1	C
TTC7A	C
TYK2	C
UBA1	C
UNC13D	C
UNC93B1	C
UNG	C
USB1	C
USP18	C
VAV1	C
VPS13B	C
VPS45	C
WAS	C
WDR1	C
WIPF1	C
WRAP53	C
XIAP	C
ZAP70	C
ZBTB24	C
ZNF341	C
ZNFX1	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