NGS Primaire immunodeficientie PID

Panel naam	NGS Primaire immunodeficientie PID
Panel methode	WES-based NGS
Panel versie **	GF-PIDv18
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Ja
Locatie	Locatie AMC

Genen (480)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
ACD	C	100	100
ACP5	C	100	100
ACTB	C	100	100
ADA	C	100	100
ADA2	C	100	100
ADAM17	C	100	100
ADAR	C	100	100
AGA	C	100	100
AICDA	C	100	100
AIRE	C	99.92	99.98
AK2	C	98.19	99.79
ALG13	C	99.42	99.92
ALPI	C	100	100
ALPK1	C	100	100
ANGPT1	C	100	100
AP1S3	C	100	100
AP3B1	C	99.99	100
AP3D1	C	100	100
APOL1	C	100	100
ARHGEF1	C	100	100
ARPC1B	C	99.55	99.91
ARPC5	C	99.81	100
ATAD3A	C	99.51	99.84
ATG4A	C	100	100
ATM	C	100	100
ATP6AP1	C	100	100
B2M	C	99.93	100
BACH2	C	100	100
BCL10	C	99.68	100
BCL11B	C	99.99	100
BLK	C	100	100
BLM	C	100	100
BLNK	C	99.94	99.97
BLOC1S6	C	99.99	100
BTK	C	99.97	100
C1QA	C	100	100
C1QB	C	99.99	100
C1QC	C	99.97	100
C1R	C	93.65	94.84
C1S	C	100	100
C2	C	100	100
C2orf69	C	100	100
C3	C	99.99	100
C5	C	99.98	100
C6	C	100	100
C7	C	100	100
C8A	C	99.99	100
C8B	C	99.71	99.96
C8G	C	100	100
C9	C	100	100
CA2	C	100	100
CARD10	C	99.99	100
CARD11	C	99.99	100
CARD14	C	99.99	100
CARD9	C	100	100
CARMIL2	C	99.83	99.86
CASP10	C	100	100
CASP8	C	100	100
CAVIN1	C	100	100
CCBE1	C	99.98	100
CD19	C	99.97	100
CD247	C	100	100
CD27	C	100	100
CD28	C	100	100
CD3D	C	100	100
CD3E	C	100	100
CD3G	C	100	100
CD4	C	100	100
CD40	C	100	100
CD40LG	C	99.97	100
CD46	C	100	100
CD55	C	99.99	100
CD59	C	100	100
CD70	C	100	100
CD79A	C	100	100
CD79B	C	99.95	100
CD81	C	99.9	100
CD8A	C	100	100
CDC42	C	99.99	100
CDCA7	C	99.93	99.94
CEBPE	C	100	100
CFB	C	100	100
CFD	C	100	100
CFH	C	99.88	99.98
CFI	C	100	100
CFP	C	100	100
CFTR	C	99.99	100
CHD7	C	100	100
CHUK	C	100	100
CIB1	C	100	100
CIITA	C	99.99	100
CLCN7	C	100	100
CLEC4D	C	100	100
CLEC7A	C	100	100
CLPB	C	100	100
COPA	C	99.98	100
COPG1	C	100	100
CORO1A	C	92.06	92.27
CR2	C	100	100
CRACR2A	C	100	100
CREBBP	C	100	100
CSF2RA	C	0	0
CSF2RB	C	100	100
CSF3R	C	99.96	100
CTC1	C	100	100
CTLA4	C	100	100
CTNNBL1	C	100	100
CTPS1	C	99.83	100
CTSC	C	100	100
CXCR2	C	100	100
CXCR4	C	100	100
CYBA	C	99.81	100
CYBB	C	100	100
CYBC1	C	100	100
DBR1	C	100	100
DCLRE1B	C	100	100
DCLRE1C	C	100	100
DEF6	C	100	100
DGAT1	C	100	100
DHFR	C	99.97	100
DIAPH1	C	100	100
DKC1	C	99.7	99.92
DNAJC21	C	99.97	99.98
DNASE1	C	100	100
DNASE1L3	C	100	100
DNASE2	C	100	100
DNMT3B	C	100	100
DOCK2	C	100	100
DOCK8	C	100	100
DPP9	C	100	100
ELANE	C	100	100
ELF4	C	100	100
EPG5	C	100	100
ERBIN	C	100	100
ERCC6L2	C	100	100
EXTL3	C	100	100
F12	C	100	100
FAAP24	C	100	100
FADD	C	100	100
FAS	C	100	100
FASLG	C	100	100
FAT4	C	100	100
FCGR3A	C	99.96	99.98
FCHO1	C	100	100
FCN3	C	99.86	100
FERMT1	C	100	100
FERMT3	C	100	100
FNIP1	C	100	100
FOXI3	C	84.75	90.25
FOXN1	C	100	100
FOXP3	C	99.98	100
FPR1	C	100	100
G6PC1	C	100	100
G6PC3	C	100	100
G6PD	C	100	100
GATA1	C	100	100
GATA2	C	100	100
GFI1	C	99.98	100
GINS1	C	100	100
GJC2	C	99.66	99.97
GRHL2	C	100	100
GTF2H5	C	100	100
HAVCR2	C	100	100
HAX1	C	100	100
HCK	C	100	100
HELLS	C	100	100
HMOX1	C	100	100
HS3ST6	C	99.53	99.82
HYOU1	C	99.99	100
ICOS	C	99.99	100
ICOSLG	C	99.95	99.95
IFIH1	C	100	100
IFNAR1	C	100	100
IFNAR2	C	99.94	100
IFNG	C	100	100
IFNGR1	C	99.99	100
IFNGR2	C	99.98	100
IGHM	C	NA	NA
IGLL1	C	100	100
IKBKB	C	100	100
IKBKG	C	22.34	26.3
IKZF1	C	100	100
IKZF2	C	100	100
IKZF3	C	100	100
IL10	C	100	100
IL10RA	C	100	100
IL10RB	C	100	100
IL12B	C	99.99	100
IL12RB1	C	100	100
IL17F	C	100	100
IL17RA	C	100	100
IL17RC	C	100	100
IL18BP	C	100	100
IL1R1	C	99.45	99.98
IL1RN	C	100	100
IL2	C	100	100
IL21	C	100	100
IL21R	C	99.74	99.99
IL2RA	C	100	100
IL2RB	C	100	100
IL2RG	C	99.97	100
IL36RN	C	100	100
IL6R	C	100	100
IL6ST	C	100	100
IL7R	C	100	100
INO80	C	100	100
INSR	C	99.97	99.97
IRAK1	C	99.9	100
IRAK4	C	99.96	100
IRF1	C	100	100
IRF2BP2	C	100	100
IRF3	C	99.99	100
IRF4	C	100	100
IRF7	C	100	100
IRF8	C	100	100
IRF9	C	100	100
ISG15	C	100	100
ITCH	C	100	100
ITGB2	C	100	100
ITK	C	100	100
ITPKB	C	100	100
ITPR3	C	100	100
IVNS1ABP	C	100	100
JAGN1	C	100	100
JAK1	C	99.96	99.99
JAK2	C	100	100
JAK3	C	100	100
KDM6A	C	99.97	99.99
KMT2A	C	99.96	100
KMT2D	C	99.99	100
KNG1	C	100	100
KRAS	C	100	100
LACC1	C	100	100
LAMTOR2	C	100	100
LAT	C	99.42	100
LCK	C	98.87	99.97
LCP2	C	100	100
LIG1	C	99.93	100
LIG4	C	100	100
LPIN2	C	100	100
LRBA	C	99.99	99.99
LRRC8A	C	100	100
LSM11	C	100	100
LYN	C	100	100
LYST	C	100	100
MAGT1	C	99.79	99.91
MALT1	C	100	100
MAN2B1	C	99.99	100
MAN2B2	C	99.99	100
MANBA	C	100	100
MAP1LC3B2	C	100	100
MAP3K14	C	99.99	100
MAPK8	C	99.87	100
MASP2	C	100	100
MC2R	C	100	100
MCM10	C	100	100
MCM4	C	100	100
MCTS1	C	100	100
MEFV	C	100	100
MOGS	C	100	100
MPEG1	C	100	100
MRTFA	C	92.2	92.2
MS4A1	C	100	100
MSN	C	100	100
MTHFD1	C	100	100
MVK	C	100	100
MYD88	C	100	100
MYOF	C	100	100
MYSM1	C	99.49	99.93
NBAS	C	99.97	100
NBN	C	99.99	100
NCF1	C	58.48	60.52
NCF2	C	99.99	100
NCF4	C	100	100
NCKAP1L	C	99.99	100
NCSTN	C	99.92	100
NFAT5	C	100	100
NFE2L2	C	100	100
NFKB1	C	99.98	100
NFKB2	C	100	100
NFKBIA	C	100	100
NHEJ1	C	100	100
NHP2	C	100	100
NLRC4	C	99.98	100
NLRP1	C	98.04	98.04
NLRP12	C	100	100
NLRP3	C	100	100
NOD2	C	100	100
NOP10	C	100	100
NOS2	C	96.28	96.28
NRAS	C	100	100
NSMCE3	C	100	100
OAS1	C	100	100
ORAI1	C	100	100
OSTM1	C	100	100
OTULIN	C	99.86	99.88
PARN	C	99.85	99.98
PAX1	C	100	100
PBX1	C	99.97	100
PCCA	C	100	100
PCCB	C	100	100
PDCD1	C	100	100
PEPD	C	99.98	100
PGM3	C	100	100
PI4KA	C	99.06	99.43
PIGA	C	100	100
PIK3CD	C	100	100
PIK3CG	C	99.99	100
PIK3R1	C	100	100
PLCG2	C	100	100
PLEKHM1	C	99.92	99.99
PLG	C	100	100
PMM2	C	100	100
PNP	C	100	100
POLA1	C	100	100
POLE2	C	99.9	99.96
POLR3F	C	99.95	100
POMP	C	99.98	100
POT1	C	100	100
POU2AF1	C	99.72	100
PRF1	C	100	100
PRKCD	C	99.99	100
PRKDC	C	100	100
PRPS1	C	100	100
PSENEN	C	100	100
PSMA3	C	100	100
PSMB10	C	100	100
PSMB4	C	99.97	99.97
PSMB8	C	100	100
PSMB9	C	100	100
PSMG2	C	100	100
PSTPIP1	C	99.98	100
PTEN	C	100	100
PTPN22	C	99.78	100
PTPRC	C	99.87	99.98
RAB27A	C	100	100
RAC2	C	100	100
RAG1	C	100	100
RAG2	C	100	100
RANBP2	C	100	100
RASGRP1	C	100	100
RASGRP2	C	100	100
RBCK1	C	100	100
RC3H1	C	99.98	100
RECQL4	C	100	100
REL	C	99.98	100
RELA	C	99.98	99.98
RELB	C	100	100
RFX5	C	100	100
RFXANK	C	100	100
RFXAP	C	100	100
RHOG	C	100	100
RHOH	C	100	100
RIGI	C	100	100
RIPK1	C	100	100
RMRP	C	NA	NA
RNASEH2A	C	100	100
RNASEH2B	C	100	100
RNASEH2C	C	100	100
RNF168	C	100	100
RNF31	C	100	100
RNU4ATAC	C	NA	NA
RNU7-1	C	NA	NA
RORC	C	99.64	99.95
RPA1	C	100	100
RPSA	C	2	2
RSPH9	C	100	100
RTEL1	C	100	100
SAMD9	C	100	100
SAMD9L	C	100	100
SAMHD1	C	100	100
SASH3	C	100	100
SAT1	C	100	100
SBDS	C	100	100
SEC61A1	C	100	100
SEMA3E	C	99.98	100
SERAC1	C	100	100
SERPING1	C	100	100
SH2B3	C	100	100
SH2D1A	C	99.9	100
SH3BP2	C	100	100
SH3KBP1	C	99.98	99.99
SKIC2	C	100	100
SKIC3	C	99.98	100
SLC29A3	C	100	100
SLC35A1	C	100	100
SLC35C1	C	100	100
SLC37A4	C	100	100
SLC39A4	C	100	100
SLC39A7	C	100	100
SLC46A1	C	100	100
SLC7A7	C	100	100
SMARCAL1	C	99.97	100
SMARCD2	C	99.96	100
SNORA31	C	NA	NA
SNX10	C	100	100
SOCS1	C	100	100
SOCS4	C	100	100
SP110	C	100	100
SPI1	C	99.97	100
SPINK5	C	100	100
SPPL2A	C	99.94	99.99
SRP54	C	100	100
SRP72	C	99.96	100
STAT1	C	99.94	100
STAT2	C	99.97	100
STAT3	C	99.98	100
STAT4	C	100	100
STAT5B	C	99.7	99.95
STAT6	C	99.99	100
STIM1	C	100	100
STING1	C	100	100
STK4	C	100	100
STN1	C	99.98	100
STX11	C	100	100
STXBP2	C	100	100
SYK	C	100	100
TAFAZZIN	C	100	100
TAP1	C	99.99	100
TAP2	C	100	100
TAPBP	C	100	100
TBX1	C	85.9	89.95
TBX21	C	100	100
TCF3	C	99.98	100
TCIRG1	C	100	100
TCN2	C	100	100
TERC	C	NA	NA
TERT	C	100	100
TET2	C	100	100
TFRC	C	100	100
TGFB1	C	100	100
THBD	C	100	100
TICAM1	C	100	100
TINF2	C	100	100
TIRAP	C	100	100
TLR3	C	100	100
TLR4	C	100	100
TLR7	C	100	100
TLR8	C	99.98	100
TMC6	C	100	100
TMC8	C	99.99	100
TNFAIP3	C	100	100
TNFRSF11A	C	98.66	99.59
TNFRSF13B	C	99.72	100
TNFRSF13C	C	100	100
TNFRSF1A	C	100	100
TNFRSF4	C	100	100
TNFRSF9	C	100	100
TNFSF11	C	100	100
TNFSF12	C	100	100
TNFSF13	C	100	100
TOM1	C	100	100
TOP2B	C	99.97	100
TPP2	C	100	100
TRAC	C	NA	NA
TRAF3	C	100	100
TRAF3IP2	C	99.97	100
TREX1	C	100	100
TRIM22	C	100	100
TRNT1	C	100	100
TTC7A	C	99.86	100
TYK2	C	99.99	100
UBA1	C	99.99	100
UNC13D	C	99.99	100
UNC93B1	C	99.99	100
UNG	C	100	100
USB1	C	100	100
USP18	C	94.1	95.11
VAV1	C	100	100
VPS13B	C	100	100
VPS45	C	9.44	11.59
WAS	C	99.81	100
WDR1	C	99.98	99.99
WIPF1	C	100	100
WRAP53	C	100	100
XIAP	C	100	100
ZAP70	C	99.99	100
ZBTB24	C	100	100
ZNF341	C	100	100
ZNFX1	C	100	100

Indicatie(s)
Primaire immunodeficientie PID

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C