Primary immune deficiencies - UGent
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 |