Primary immune deficiencies - UGent

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Full name:
Primary immune deficiencies - UGent
Abbreviation:
PID
Version number:
v6
Laboratory:
Created:
24 Jun 2019 - 11:07
Changed:
21 Dec 2022 - 13:33
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACD 100.00 1
ACP5 100.00 1
ACTB 100.00 1
ADA 99.97 1
ADA2 100.00 1
ADAM17 99.94 1
ADAR 99.84 1
AICDA 99.94 1
AIRE 99.95 1
AK2 99.39 1
ALPI 100.00 1
AP1S3 100.00 1
AP3B1 99.89 1
AP3D1 100.00 1
APOL1 99.99 1
ARHGEF1 99.97 1
ARPC1B 99.92 1
ATG16L1 99.95 1
ATG4A 99.86 1
ATM 99.83 1
ATP2A2 99.98 1
ATP6AP1 100.00 1
B2M 100.00 1
BACH2 99.99 1
BCL10 99.74 1
BCL11B 100.00 1
BLK 99.98 1
BLM 99.80 1
BLNK 99.90 1
BLOC1S3 100.00 1
BLOC1S6 99.98 1
BTK 99.88 1
C1QA 99.99 1
C1QB 99.58 1
C1QC 99.97 1
C1R 99.99 1
C1S 99.98 1
C2 99.99 1
C2orf69 99.97 1
C3 100.00 1
C4A 21.28 1
C4BPA 99.95 1
C5 99.92 1
C6 99.97 1
C7 99.94 1
C8A 99.95 1
C8B 99.37 1
C8G 99.99 1
C9 99.89 1
CARD11 99.97 1
CARD14 99.99 1
CARD9 100.00 1
CARMIL2 99.99 1
CASP10 99.85 1
CASP8 99.92 1
CBL 99.95 1
CCBE1 99.52 1
CCDC28B 99.99 1
CD19 99.98 1
CD247 99.79 1
CD27 99.95 1
CD3D 100.00 1
CD3E 100.00 1
CD3G 100.00 1
CD4 100.00 1
CD40 100.00 1
CD40LG 99.88 1
CD46 99.86 1
CD55 74.12 1
CD59 100.00 1
CD70 99.99 1
CD79A 99.97 1
CD79B 99.93 1
CD81 99.97 1
CD8A 99.97 1
CDC42 98.05 1
CDCA7 99.88 1
CEBPE 100.00 1
CFB 99.97 1
CFD 99.99 1
CFH 99.12 1
CFHR1 84.44 1
CFHR2 90.26 1
CFHR3 91.62 1
CFHR4 99.86 1
CFHR5 99.68 1
CFI 99.87 1
CFP 99.96 1
CFTR 99.45 1
CHD7 99.99 1
CIB1 99.92 1
CIITA 99.99 1
CLCN7 99.99 1
CLEC7A 99.98 1
CLPB 99.97 1
COL7A1 99.99 1
COPA 99.61 1
CORO1A 91.71 1
CPT2 99.65 1
CR2 99.97 1
CREBBP 99.97 1
CSF2RA 93.86 1
CSF2RB 100.00 1
CSF3R 99.97 1
CTC1 100.00 1
CTLA4 99.99 1
CTNNBL1 100.00 1
CTPS1 98.63 1
CTSC 99.97 1
CXCR4 99.98 1
CYBA 99.96 1
CYBB 99.87 1
CYBC1 100.00 1
DBR1 99.92 1
DCLRE1B 99.91 1
DCLRE1C 99.79 1
DEF6 100.00 1
DGKE 99.10 1
DHFR 98.89 1
DKC1 99.59 1
DNAJC21 99.67 1
DNASE1 100.00 1
DNASE1L3 99.90 1
DNASE2 100.00 1
DNMT3B 99.98 1
DOCK2 100.00 1
DOCK8 99.86 1
DOK3 99.95 1
DTNBP1 99.89 1
EFL1 99.83 1
ELANE 100.00 1
ELF4 99.97 1
EPG5 99.95 1
ERBIN 99.69 1
ERCC6L2 99.94 1
EXTL3 99.99 1
F12 99.99 1
FAAP24 99.95 1
FADD 99.97 1
FAS 99.99 1
FASLG 99.84 1
FAT4 99.98 1
FCGR2B 70.97 1
FCGR3A 99.93 1
FCGR3B 95.51 1
FCHO1 99.99 1
FCN3 99.48 1
FERMT1 99.90 1
FERMT3 99.99 1
FNIP1 99.87 1
FOXN1 99.97 1
FOXP3 99.93 1
FPR1 100.00 1
G6PC3 99.98 1
G6PD 99.97 1
GATA1 99.97 1
GATA2 99.99 1
GFI1 99.88 1
GIMAP5 100.00 1
GINS1 99.99 1
GUCY2C 99.90 1
HAVCR2 99.93 1
HAX1 100.00 1
HELLS 99.78 1
HMOX1 99.95 1
HPS1 100.00 1
HPS4 99.98 1
HPS6 100.00 1
HTRA2 99.99 1
HYOU1 99.97 1
ICOS 99.95 1
ICOSLG 5.95 1
IFIH1 99.84 1
IFNAR1 99.75 1
IFNAR2 89.62 1
IFNG 99.50 1
IFNGR1 99.87 1
IFNGR2 99.95 1
IGHM 100.00 1
IGKC 99.99 1
IGLL1 100.00 1
IKBKB 99.93 1
IKBKG 57.34 1
IKZF1 99.92 1
IL10 100.00 1
IL10RA 99.99 1
IL10RB 99.99 1
IL12B 99.98 1
IL12RB1 94.11 1
IL12RB2 97.66 1
IL15RA 99.96 1
IL17F 99.99 1
IL17RA 100.00 1
IL17RC 100.00 1
IL18 99.85 1
IL18BP 99.99 1
IL1RL1 99.76 1
IL1RN 99.64 1
IL21 99.95 1
IL21R 99.70 1
IL23R 97.64 1
IL2RA 99.99 1
IL2RB 100.00 1
IL2RG 99.86 1
IL36RN 100.00 1
IL6R 92.46 1
IL6ST 99.88 1
IL7R 99.99 1
ILRUN 100.00 1
INO80 99.96 1
IRAK1 99.98 1
IRAK4 98.85 1
IRF2BP2 100.00 1
IRF3 99.96 1
IRF4 99.99 1
IRF7 100.00 1
IRF8 99.99 1
IRF9 100.00 1
ISG15 100.00 1
ITCH 95.57 1
ITGB2 100.00 1
ITK 99.91 1
ITPKB 99.99 1
IVNS1ABP 99.24 1
JAGN1 100.00 1
JAK1 99.32 1
JAK3 99.99 1
KDM6A 99.74 1
KMT2A 99.97 1
KMT2D 99.98 1
KRAS 99.13 1
LACC1 99.99 1
LAMTOR2 99.92 1
LAT 99.85 1
LCK 99.56 1
LCP2 99.58 1
LIG1 99.93 1
LIG4 100.00 1
LIPA 99.96 1
LPIN2 100.00 1
LRBA 99.76 1
LRRC8A 100.00 1
LSM11 100.00 1
LYST 99.87 1
MAGT1 99.54 1
MALT1 99.71 1
MAN2B1 99.99 1
MAP1LC3B2 100.00 1
MAP3K14 99.98 1
MAPK8 99.64 1
MASP1 99.99 1
MASP2 99.95 1
MBL2 99.93 1
MCM10 99.99 1
MCM4 99.96 1
MEFV 100.00 1
MOGS 100.00 1
MPEG1 100.00 1
MPO 99.97 1
MRE11 99.93 1
MRTFA 92.99 1
MS4A1 99.60 1
MSH6 99.97 1
MSN 99.98 1
MTHFD1 100.00 1
MVK 99.97 1
MYD88 99.99 1
MYO5B 100.00 1
MYSM1 94.16 1
NBAS 99.86 1
NBN 99.93 1
NCF1 57.22 1
NCF2 99.85 1
NCF4 100.00 1
NCKAP1L 99.77 1
NCSTN 99.82 1
NFAT5 99.93 1
NFE2L2 99.97 1
NFKB1 99.80 1
NFKB2 99.98 1
NFKBIA 99.99 1
NHEJ1 99.91 1
NHP2 99.96 1
NKX2-5 99.75 1
NLRC4 99.95 1
NLRP1 95.26 1
NLRP12 99.99 1
NLRP3 100.00 1
NLRP7 99.99 1
NOD2 99.98 1
NOP10 99.99 1
NOS2 96.11 1
NPC1 99.99 1
NRAS 99.66 1
NSMCE3 100.00 1
NT5C3A 99.95 1
OAS1 99.96 1
ORAI1 99.63 1
OSTM1 99.56 1
OTULIN 99.95 1
PARN 99.75 1
PAX1 100.00 1
PCCA 99.90 1
PCCB 99.97 1
PEPD 99.98 1
PGM3 99.94 1
PIK3CD 99.99 1
PIK3CG 99.72 1
PIK3R1 99.86 1
PLCG2 99.99 1
PLEKHM1 99.77 1
PLG 99.89 1
PMP22 99.99 1
PMS2 70.47 1
PNP 100.00 1
POLA1 99.57 1
POLD1 99.96 1
POLD2 99.95 1
POLE 99.99 1
POLE2 99.87 1
POLR3A 99.97 1
POLR3C 99.89 1
POLR3F 99.97 1
PRF1 100.00 1
PRIM1 99.07 1
PRKCD 99.96 1
PRKDC 99.93 1
PSEN1 100.00 1
PSENEN 100.00 1
PSMA3 99.96 1
PSMB10 99.98 1
PSMB4 99.83 1
PSMB8 99.96 1
PSMB9 99.68 1
PSMG2 99.98 1
PSTPIP1 99.91 1
PSTPIP2 99.98 1
PTEN 99.89 1
PTPN11 99.98 1
PTPN2 99.98 1
PTPN6 100.00 1
PTPRC 93.90 1
RAB27A 99.94 1
RAC2 99.99 1
RAG1 100.00 1
RAG2 100.00 1
RANBP2 99.37 1
RASGRP1 100.00 1
RBCK1 100.00 1
RC3H1 99.22 1
RECQL4 100.00 1
REL 96.99 1
RELA 99.99 1
RELB 99.97 1
RFX5 99.88 1
RFXANK 100.00 1
RFXAP 99.98 1
RHOH 99.99 1
RIGI 99.84 1
RIPK1 99.93 1
RMRP 100.00 1
RNASEH2A 99.95 1
RNASEH2B 99.94 1
RNASEH2C 99.99 1
RNF168 99.97 1
RNF31 100.00 1
RORC 99.42 1
RPSA 0.00 1
RTEL1 100.00 1
SAMD9 99.93 1
SAMD9L 99.95 1
SAMHD1 99.98 1
SASH3 99.99 1
SBDS 99.93 1
SDHA 99.98 1
SEC61A1 99.99 1
SEMA3E 99.13 1
SERPING1 100.00 1
SGPL1 99.95 1
SH2D1A 98.98 1
SH3BP2 100.00 1
SH3KBP1 99.95 1
SKIC2 99.98 1
SKIC3 99.82 1
SLC11A1 99.99 1
SLC29A3 99.98 1
SLC35C1 100.00 1
SLC37A4 99.90 1
SLC39A7 100.00 1
SLC46A1 100.00 1
SLC7A7 99.99 1
SLC9A3 100.00 1
SMARCAL1 99.97 1
SMARCD2 99.99 1
SNX10 99.96 1
SOCS1 99.98 1
SOCS4 99.92 1
SPI1 99.81 1
SPINK5 99.91 1
SPPL2A 99.88 1
SRP54 99.83 1
SRP72 99.91 1
STAT1 99.83 1
STAT2 99.89 1
STAT3 99.97 1
STAT4 99.77 1
STAT5B 99.50 1
STAT6 99.87 1
STIM1 99.99 1
STING1 99.87 1
STK4 99.91 1
STN1 99.88 1
STX11 100.00 1
STXBP2 100.00 1
STXBP3 85.74 1
SYK 99.96 1
TAFAZZIN 99.98 1
TAP1 99.97 1
TAP2 99.94 1
TAPBP 99.98 1
TBK1 99.07 1
TBX1 99.95 1
TBX21 99.99 1
TCF3 100.00 1
TCIRG1 99.99 1
TCN2 100.00 1
TERC 98.59 1
TERT 100.00 1
TET2 99.99 1
TFRC 99.87 1
TGFB1 100.00 1
TGFBR1 99.94 1
TGFBR2 99.98 1
THBD 100.00 1
TICAM1 99.99 1
TINF2 100.00 1
TIRAP 100.00 1
TLR3 99.99 1
TLR4 99.99 1
TLR7 99.98 1
TMC6 100.00 1
TMC8 99.92 1
TNFAIP3 99.94 1
TNFRSF11A 100.00 1
TNFRSF13B 99.43 1
TNFRSF13C 99.99 1
TNFRSF1A 100.00 1
TNFRSF4 100.00 1
TNFRSF9 99.99 1
TNFSF11 99.89 1
TNFSF12 100.00 1
TNFSF13 100.00 1
TOP2B 99.72 1
TPP2 99.89 1
TRAC 100.00 1
TRAF3 99.97 1
TRAF3IP2 100.00 1
TREX1 100.00 1
TRIM22 100.00 1
TRNT1 99.97 1
TTC7A 99.77 1
TYK2 99.99 1
UBA1 99.93 1
UNC119 100.00 1
UNC13D 100.00 1
UNC93B1 99.75 1
UNG 100.00 1
USB1 89.62 1
USP18 93.05 1
VAV1 99.99 1
VPS13B 99.90 1
VPS45 93.94 1
WAS 99.90 1
WDR1 99.99 1
WIPF1 99.87 1
WRAP53 100.00 1
XBP1 99.99 1
XIAP 99.36 1
ZAP70 99.95 1
ZBTB24 99.99 1
ZNF341 100.00 1
ZNFX1 99.99 1