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 | 100.00 | 100.00 | NM_001082486.2 | |
ACP5 | C | 100.00 | 100.00 | NM_001611.5 | |
ACTB | C | 100.00 | 100.00 | NM_001101.5 | |
ADA | C | 100.00 | 100.00 | NM_000022.4 | |
ADA2 | C | 100.00 | 100.00 | NM_001282225.2 | |
ADAM17 | C | 100.00 | 100.00 | NM_003183.6 | |
ADAR | C | 100.00 | 100.00 | NM_001111.5 | |
AGA | C | 100.00 | 100.00 | NM_000027.4 | |
AICDA | C | 100.00 | 100.00 | NM_020661.4 | |
AIRE | C | 99.92 | 99.99 | NM_000383.4 | |
AK2 | C | 98.19 | 99.79 | NM_001625.4 | |
ALG13 | C | 99.42 | 99.92 | NM_001099922.3 | |
ALPI | C | 100.00 | 100.00 | NM_001631.5 | |
ALPK1 | C | ||||
ANGPT1 | C | 100.00 | 100.00 | NM_001146.5 | |
AP1S3 | C | 100.00 | 100.00 | NM_001039569.2 | |
AP3B1 | C | 99.99 | 100.00 | NM_003664.5 | |
AP3D1 | C | 100.00 | 100.00 | NM_001261826.3 | |
APOL1 | C | 100.00 | 100.00 | NM_003661.4 | |
ARHGEF1 | C | 100.00 | 100.00 | NM_004706.4 | |
ARPC1B | C | 99.55 | 99.91 | NM_005720.4 | |
ATAD3A | C | ||||
ATG4A | C | ||||
ATM | C | 100.00 | 100.00 | NM_001351834.2 | |
ATP6AP1 | C | 100.00 | 100.00 | NM_001183.6 | |
B2M | C | 99.93 | 100.00 | NM_004048.4 | |
BACH2 | C | 100.00 | 100.00 | NM_021813.4 | |
BCL10 | C | 99.68 | 100.00 | NM_003921.5 | |
BCL11B | C | 99.99 | 100.00 | NM_138576.4 | |
BLK | C | 100.00 | 100.00 | NM_001715.3 | |
BLM | C | 100.00 | 100.00 | NM_000057.4 | |
BLNK | C | 99.94 | 99.97 | NM_013314.4 | |
BLOC1S6 | C | 99.99 | 100.00 | NM_012388.4 | |
BTK | C | 99.96 | 100.00 | NM_000061.3 | |
C1QA | C | 100.00 | 100.00 | NM_015991.4 | |
C1QB | C | 99.99 | 100.00 | NM_001378156.1 | |
C1QC | C | 99.97 | 100.00 | NM_172369.5 | |
C1R | C | 93.65 | 94.84 | NM_001733.7 | |
C1S | C | 100.00 | 100.00 | NM_001734.5 | |
C2 | C | 100.00 | 100.00 | NM_000063.6 | |
C2orf69 | C | ||||
C3 | C | 99.99 | 100.00 | NM_000064.4 | |
C5 | C | 99.99 | 100.00 | NM_001735.3 | |
C6 | C | 100.00 | 100.00 | NM_000065.5 | |
C7 | C | 100.00 | 100.00 | NM_000587.4 | |
C8A | C | 99.99 | 100.00 | NM_000562.3 | |
C8B | C | 99.71 | 99.96 | NM_000066.4 | |
C8G | C | 100.00 | 100.00 | NM_000606.3 | |
C9 | C | 100.00 | 100.00 | NM_001737.5 | |
CA2 | C | 100.00 | 100.00 | NM_000067.3 | |
CARD10 | C | ||||
CARD11 | C | 99.99 | 100.00 | NM_032415.7 | |
CARD14 | C | 99.99 | 100.00 | NM_001366385.1 | |
CARD9 | C | 100.00 | 100.00 | NM_052813.5 | |
CARMIL2 | C | 99.83 | 99.86 | NM_001013838.3 | |
CASP10 | C | 100.00 | 100.00 | NM_032977.4 | |
CASP8 | C | 100.00 | 100.00 | NM_001372051.1 | |
CAVIN1 | C | 100.00 | 100.00 | NM_012232.6 | |
CCBE1 | C | 99.98 | 100.00 | NM_133459.4 | |
CD19 | C | 99.97 | 100.00 | NM_001770.6 | |
CD247 | C | 100.00 | 100.00 | NM_198053.3 | |
CD27 | C | 100.00 | 100.00 | NM_001242.5 | |
CD28 | C | ||||
CD3D | C | 100.00 | 100.00 | NM_000732.6 | |
CD3E | C | 100.00 | 100.00 | NM_000733.4 | |
CD3G | C | 100.00 | 100.00 | NM_000073.3 | |
CD4 | C | ||||
CD40 | C | 100.00 | 100.00 | NM_001250.6 | |
CD40LG | C | 99.96 | 100.00 | NM_000074.3 | |
CD46 | C | 100.00 | 100.00 | NM_172351.3 | |
CD55 | C | 99.99 | 100.00 | NM_000574.5 | |
CD59 | C | 100.00 | 100.00 | NM_000611.6 | |
CD70 | C | 100.00 | 100.00 | NM_001252.5 | |
CD79A | C | 100.00 | 100.00 | NM_001783.4 | |
CD79B | C | 99.95 | 100.00 | NM_000626.4 | |
CD81 | C | 99.9 | 100.00 | NM_004356.4 | |
CD8A | C | 100.00 | 100.00 | NM_001768.7 | |
CDC42 | C | ||||
CDCA7 | C | 99.93 | 99.94 | NM_031942.5 | |
CDKN2B | C | 100.00 | 100.00 | NM_004936.4 | |
CEBPE | C | 100.00 | 100.00 | NM_001805.4 | |
CFB | C | 100.00 | 100.00 | NM_001710.6 | |
CFD | C | 100.00 | 100.00 | NM_001928.4 | |
CFH | C | 99.88 | 99.98 | NM_000186.4 | |
CFI | C | 100.00 | 100.00 | NM_000204.5 | |
CFP | C | 100.00 | 100.00 | NM_001145252.3 | |
CFTR | C | 99.99 | 100.00 | NM_000492.4 | |
CHD7 | C | 100.00 | 100.00 | NM_017780.4 | |
CHUK | C | ||||
CIB1 | C | 100.00 | 100.00 | NM_006384.4 | |
CIITA | C | 99.99 | 100.00 | NM_001379332.1 | |
CLCN7 | C | 100.00 | 100.00 | NM_001287.6 | |
CLEC4D | C | 100.00 | 100.00 | NM_080387.5 | |
CLEC7A | C | 100.00 | 100.00 | NM_197947.3 | |
CLPB | C | 100.00 | 100.00 | NM_001258392.3 | |
COPA | C | 99.99 | 100.00 | NM_004371.4 | |
COPG1 | C | ||||
CORO1A | C | 92.06 | 92.27 | NM_007074.4 | |
CR2 | C | 100.00 | 100.00 | NM_001006658.3 | |
CRACR2A | C | ||||
CREBBP | C | 100.00 | 100.00 | NM_004380.3 | |
CSF2RA | C | 0 | 0 | NM_172245.4 | |
CSF2RA | C | 0 | 0 | NM_172245.4 | |
CSF2RB | C | 100.00 | 100.00 | NM_000395.3 | |
CSF3R | C | 99.96 | 100.00 | NM_000760.4 | |
CTC1 | C | 100.00 | 100.00 | NM_025099.6 | |
CTLA4 | C | 100.00 | 100.00 | NM_005214.5 | |
CTNNBL1 | C | ||||
CTPS1 | C | 99.83 | 100.00 | NM_001905.4 | |
CTSC | C | 100.00 | 100.00 | NM_001814.6 | |
CXCR2 | C | ||||
CXCR4 | C | 100.00 | 100.00 | NM_003467.3 | |
CYBA | C | 99.81 | 100.00 | NM_000101.4 | |
CYBB | C | 100.00 | 100.00 | NM_000397.4 | |
CYBC1 | C | 100.00 | 100.00 | NM_001033046.4 | |
DBR1 | C | 100.00 | 100.00 | NM_016216.4 | |
DCLRE1B | C | 100.00 | 100.00 | NM_022836.4 | |
DCLRE1C | C | 100.00 | 100.00 | NM_001033855.3 | |
DEF6 | C | 100.00 | 100.00 | NM_022047.4 | |
DGAT1 | C | 100.00 | 100.00 | NM_012079.6 | |
DHFR | C | 99.97 | 100.00 | NM_000791.4 | |
DIAPH1 | C | ||||
DKC1 | C | 99.7 | 99.92 | NM_001363.5 | |
DNAJC21 | C | 99.97 | 99.98 | NM_001012339.3 | |
DNASE1 | C | 100.00 | 100.00 | NM_005223.4 | |
DNASE1L3 | C | 100.00 | 100.00 | NM_004944.4 | |
DNASE2 | C | 100.00 | 100.00 | NM_001375.3 | |
DNMT3B | C | 100.00 | 100.00 | NM_006892.4 | |
DOCK2 | C | 100.00 | 100.00 | NM_004946.3 | |
DOCK8 | C | 100.00 | 100.00 | NM_203447.4 | |
ELANE | C | 100.00 | 100.00 | NM_001972.4 | |
ELF4 | C | 100.00 | 100.00 | NM_001421.4 | |
EPG5 | C | 100.00 | 100.00 | NM_020964.3 | |
ERBIN | C | ||||
ERCC2 | C | 100.00 | 100.00 | NM_000400.4 | |
ERCC3 | C | 100.00 | 100.00 | NM_000122.2 | |
ERCC6L2 | C | 100.00 | 100.00 | NM_020207.7 | |
EXTL3 | C | 100.00 | 100.00 | NM_001440.4 | |
F12 | C | 100.00 | 100.00 | NM_000505.4 | |
FAAP24 | C | 100.00 | 100.00 | NM_152266.5 | |
FADD | C | 100.00 | 100.00 | NM_003824.4 | |
FAS | C | 100.00 | 100.00 | NM_000043.6 | |
FASLG | C | 100.00 | 100.00 | NM_000639.3 | |
FAT4 | C | 100.00 | 100.00 | NM_001291303.3 | |
FCGR3A | C | 99.96 | 99.98 | NM_000569.8 | |
FCHO1 | C | 100.00 | 100.00 | NM_015122.3 | |
FCN3 | C | 99.86 | 100.00 | NM_003665.4 | |
FERMT1 | C | ||||
FERMT3 | C | 100.00 | 100.00 | NM_031471.6 | |
FNIP1 | C | ||||
FOXI3 | C | ||||
FOXN1 | C | 100.00 | 100.00 | NM_001369369.1 | |
FOXP3 | C | 99.98 | 100.00 | NM_014009.4 | |
FPR1 | C | 100.00 | 100.00 | NM_002029.4 | |
G6PC1 | C | 100.00 | 100.00 | NM_000151.4 | |
G6PC3 | C | 100.00 | 100.00 | NM_138387.4 | |
G6PD | C | 100.00 | 100.00 | NM_001360016.2 | |
GATA2 | C | 100.00 | 100.00 | NM_032638.5 | |
GFI1 | C | 99.98 | 100.00 | NM_005263.5 | |
GINS1 | C | 100.00 | 100.00 | NM_021067.5 | |
GJC2 | C | 99.66 | 99.97 | NM_020435.4 | |
GRHL2 | C | 100.00 | 100.00 | NM_024915.4 | |
GTF2H5 | C | 100.00 | 100.00 | NM_207118.3 | |
HAVCR2 | C | 100.00 | 100.00 | NM_032782.5 | |
HAX1 | C | 100.00 | 100.00 | NM_006118.4 | |
HCK | C | ||||
HELLS | C | 100.00 | 100.00 | NM_018063.5 | |
HMOX1 | C | 100.00 | 100.00 | NM_002133.3 | |
HS3ST6 | C | ||||
HYOU1 | C | 99.99 | 100.00 | NM_006389.5 | |
ICOS | C | 99.99 | 100.00 | NM_012092.4 | |
ICOSLG | C | 99.95 | 99.95 | NM_015259.6 | |
IFIH1 | C | 100.00 | 100.00 | NM_022168.4 | |
IFNAR1 | C | 100.00 | 100.00 | NM_000629.3 | |
IFNAR2 | C | 99.94 | 100.00 | NM_001289125.3 | |
IFNG | C | ||||
IFNGR1 | C | 99.99 | 100.00 | NM_000416.3 | |
IFNGR2 | C | 99.98 | 100.00 | NM_005534.4 | |
IGHM | C | ||||
IGLL1 | C | 100.00 | 100.00 | NM_020070.4 | |
IKBKB | C | 100.00 | 100.00 | NM_001556.3 | |
IKBKG | C | 22.33 | 26.3 | NM_001099857.5 | |
IKZF1 | C | 100.00 | 100.00 | NM_006060.6 | |
IKZF2 | C | ||||
IKZF3 | C | ||||
IL10 | C | 100.00 | 100.00 | NM_000572.3 | |
IL10RA | C | 100.00 | 100.00 | NM_001558.4 | |
IL10RB | C | 100.00 | 100.00 | NM_000628.5 | |
IL12B | C | 99.99 | 100.00 | NM_002187.3 | |
IL12RB1 | C | 100.00 | 100.00 | NM_005535.3 | |
IL17F | C | 100.00 | 100.00 | NM_052872.4 | |
IL17RA | C | 100.00 | 100.00 | NM_014339.7 | |
IL17RC | C | 100.00 | 100.00 | NM_153460.4 | |
IL18BP | C | 100.00 | 100.00 | NM_001039660.2 | |
IL1RN | C | 100.00 | 100.00 | NM_173842.3 | |
IL2 | C | 100.00 | 100.00 | NM_000586.4 | |
IL21 | C | 100.00 | 100.00 | NM_021803.4 | |
IL21R | C | 99.74 | 99.99 | NM_181078.3 | |
IL2RA | C | 100.00 | 100.00 | NM_000417.3 | |
IL2RB | C | 100.00 | 100.00 | NM_000878.5 | |
IL2RG | C | 99.96 | 100.00 | NM_000206.3 | |
IL36RN | C | 100.00 | 100.00 | NM_012275.3 | |
IL6R | C | 100.00 | 100.00 | NM_000565.4 | |
IL6ST | C | 100.00 | 100.00 | NM_002184.4 | |
IL7R | C | 100.00 | 100.00 | NM_002185.5 | |
INO80 | C | 100.00 | 100.00 | NM_017553.3 | |
INSR | C | 99.97 | 99.97 | NM_000208.4 | |
IRAK1 | C | 99.9 | 100.00 | NM_001569.4 | |
IRAK4 | C | 99.96 | 100.00 | NM_016123.4 | |
IRF2BP2 | C | 100.00 | 100.00 | NM_182972.3 | |
IRF3 | C | 99.99 | 100.00 | NM_001571.6 | |
IRF4 | C | 100.00 | 100.00 | NM_002460.4 | |
IRF7 | C | 100.00 | 100.00 | NM_001572.5 | |
IRF8 | C | 100.00 | 100.00 | NM_002163.4 | |
IRF9 | C | 100.00 | 100.00 | NM_006084.5 | |
ISG15 | C | 100.00 | 100.00 | NM_005101.4 | |
ITCH | C | 100.00 | 100.00 | NM_031483.7 | |
ITGB2 | C | 100.00 | 100.00 | NM_001127491.3 | |
ITK | C | 100.00 | 100.00 | NM_005546.4 | |
ITPKB | C | ||||
ITPR3 | C | ||||
IVNS1ABP | C | 100.00 | 100.00 | NM_006469.5 | |
JAGN1 | C | 100.00 | 100.00 | NM_032492.4 | |
JAK1 | C | 99.96 | 99.99 | NM_002227.4 | |
JAK2 | C | 100.00 | 100.00 | NM_004972.4 | |
JAK3 | C | 100.00 | 100.00 | NM_000215.4 | |
KDM6A | C | 99.97 | 99.99 | NM_001291415.2 | |
KMT2A | C | ||||
KMT2D | C | 99.99 | 100.00 | NM_003482.4 | |
KNG1 | C | ||||
KRAS | C | 100.00 | 100.00 | NM_004985.5 | |
LACC1 | C | 100.00 | 100.00 | NM_153218.4 | |
LAMTOR2 | C | 100.00 | 100.00 | NM_014017.4 | |
LAT | C | 99.42 | 100.00 | NM_001014987.2 | |
LCK | C | 98.87 | 99.97 | NM_005356.5 | |
LCP2 | C | ||||
LIG1 | C | 99.93 | 100.00 | NM_000234.3 | |
LIG4 | C | 100.00 | 100.00 | NM_206937.2 | |
LPIN2 | C | 100.00 | 100.00 | NM_001375808.2 | |
LRBA | C | 99.99 | 99.99 | NM_001364905.1 | |
LRRC8A | C | 100.00 | 100.00 | NM_019594.4 | |
LSM11 | C | ||||
LYST | C | 100.00 | 100.00 | NM_000081.4 | |
MAGT1 | C | 99.79 | 99.91 | NM_001367916.1 | |
MALT1 | C | 100.00 | 100.00 | NM_006785.4 | |
MAN2B1 | C | 99.99 | 100.00 | NM_000528.4 | |
MAN2B2 | C | ||||
MANBA | C | 100.00 | 100.00 | NM_005908.4 | |
MAP1LC3B2 | C | ||||
MAP3K14 | C | 99.99 | 100.00 | NM_003954.5 | |
MAPK8 | C | ||||
MASP2 | C | 100.00 | 100.00 | NM_006610.4 | |
MC2R | C | 100.00 | 100.00 | NM_000529.2 | |
MCM10 | C | ||||
MCM4 | C | 100.00 | 100.00 | NM_182746.3 | |
MEFV | C | 100.00 | 100.00 | NM_000243.3 | |
MOGS | C | 100.00 | 100.00 | NM_006302.3 | |
MPEG1 | C | ||||
MRTFA | C | 92.2 | 92.2 | NM_020831.6 | |
MS4A1 | C | 100.00 | 100.00 | NM_152866.3 | |
MSN | C | 100.00 | 100.00 | NM_002444.3 | |
MTHFD1 | C | 100.00 | 100.00 | NM_005956.4 | |
MVK | C | 100.00 | 100.00 | NM_000431.4 | |
MYD88 | C | 100.00 | 100.00 | NM_002468.5 | |
MYOF | C | ||||
MYSM1 | C | 99.49 | 99.93 | NM_001085487.3 | |
NBAS | C | 99.97 | 100.00 | NM_015909.4 | |
NBN | C | 99.99 | 100.00 | NM_002485.5 | |
NCF1 | C | 58.48 | 60.52 | NM_000265.7 | |
NCF2 | C | 99.99 | 100.00 | NM_000433.4 | |
NCF4 | C | 100.00 | 100.00 | NM_000631.5 | |
NCKAP1L | C | 99.99 | 100.00 | NM_005337.5 | |
NCSTN | C | 99.92 | 100.00 | NM_015331.3 | |
NFAT5 | C | 100.00 | 100.00 | NM_138713.4 | |
NFE2L2 | C | 100.00 | 100.00 | NM_006164.5 | |
NFKB1 | C | 99.98 | 100.00 | NM_003998.4 | |
NFKB2 | C | 100.00 | 100.00 | NM_001322934.2 | |
NFKBIA | C | 100.00 | 100.00 | NM_020529.3 | |
NHEJ1 | C | 100.00 | 100.00 | NM_024782.3 | |
NHP2 | C | 100.00 | 100.00 | NM_017838.4 | |
NLRC4 | C | 99.98 | 100.00 | NM_001199138.2 | |
NLRP1 | C | 98.04 | 98.04 | NM_033004.4 | |
NLRP12 | C | 100.00 | 100.00 | NM_144687.4 | |
NLRP3 | C | 100.00 | 100.00 | NM_001243133.2 | |
NOD2 | C | 100.00 | 100.00 | NM_001370466.1 | |
NOP10 | C | 100.00 | 100.00 | NM_018648.4 | |
NOS2 | C | ||||
NRAS | C | 100.00 | 100.00 | NM_002524.5 | |
NSMCE3 | C | 100.00 | 100.00 | NM_138704.4 | |
OAS1 | C | 100.00 | 100.00 | NM_016816.4 | |
ORAI1 | C | 100.00 | 100.00 | NM_032790.3 | |
OSTM1 | C | 100.00 | 100.00 | NM_014028.4 | |
OTULIN | C | 99.86 | 99.88 | NM_138348.6 | |
PARN | C | 99.85 | 99.98 | NM_002582.4 | |
PAX1 | C | ||||
PAX5 | C | 99.97 | 100.00 | NM_016734.3 | |
PBX1 | C | 99.97 | 100.00 | NM_002585.4 | |
PCCA | C | 100.00 | 100.00 | NM_000282.4 | |
PCCB | C | 100.00 | 100.00 | NM_000532.5 | |
PDCD1 | C | ||||
PEPD | C | 99.98 | 100.00 | NM_000285.4 | |
PGM3 | C | 100.00 | 100.00 | NM_015599.3 | |
PIGA | C | 100.00 | 100.00 | NM_002641.4 | |
PIK3CD | C | 100.00 | 100.00 | NM_005026.5 | |
PIK3CG | C | ||||
PIK3R1 | C | 100.00 | 100.00 | NM_181523.3 | |
PLCG2 | C | 100.00 | 100.00 | NM_002661.5 | |
PLEKHM1 | C | 99.92 | 99.99 | NM_014798.3 | |
PLG | C | 100.00 | 100.00 | NM_000301.5 | |
PMM2 | C | 100.00 | 100.00 | NM_000303.3 | |
PNP | C | 100.00 | 100.00 | NM_000270.4 | |
POLA1 | C | 100.00 | 100.00 | NM_001330360.2 | |
POLE2 | C | 99.9 | 99.96 | NM_002692.4 | |
POLR3F | C | ||||
POMP | C | 99.98 | 100.00 | NM_015932.6 | |
POT1 | C | 100.00 | 100.00 | NM_015450.3 | |
POU2AF1 | C | ||||
PRF1 | C | 100.00 | 100.00 | NM_001083116.3 | |
PRKCD | C | 99.99 | 100.00 | NM_006254.4 | |
PRKDC | C | 100.00 | 100.00 | NM_006904.6 | |
PRPS1 | C | 100.00 | 100.00 | NM_002764.4 | |
PSENEN | C | 100.00 | 100.00 | NM_172341.4 | |
PSMA3 | C | 100.00 | 100.00 | NM_002788.4 | |
PSMB4 | C | 99.97 | 99.97 | NM_002796.3 | |
PSMB8 | C | 100.00 | 100.00 | NM_148919.4 | |
PSMB9 | C | 100.00 | 100.00 | NM_002800.5 | |
PSMG2 | C | 100.00 | 100.00 | NM_020232.5 | |
PSTPIP1 | C | 99.98 | 100.00 | NM_003978.5 | |
PTPN22 | C | 99.78 | 100.00 | NM_015967.6 | |
PTPRC | C | 99.87 | 99.98 | NM_002838.5 | |
RAB27A | C | 100.00 | 100.00 | NM_183235.3 | |
RAC2 | C | 100.00 | 100.00 | NM_002872.5 | |
RAG1 | C | 100.00 | 100.00 | NM_000448.3 | |
RAG2 | C | 100.00 | 100.00 | NM_000536.4 | |
RANBP2 | C | 100.00 | 100.00 | NM_006267.5 | |
RASGRP1 | C | 100.00 | 100.00 | NM_005739.4 | |
RASGRP2 | C | 100.00 | 100.00 | NM_001098671.2 | |
RBCK1 | C | 100.00 | 100.00 | NM_031229.4 | |
RC3H1 | C | 99.98 | 100.00 | NM_172071.4 | |
RECQL4 | C | 100.00 | 100.00 | NM_004260.4 | |
REL | C | ||||
RELA | C | ||||
RELB | C | 100.00 | 100.00 | NM_006509.4 | |
RFX5 | C | 100.00 | 100.00 | NM_001025603.2 | |
RFXANK | C | 100.00 | 100.00 | NM_003721.4 | |
RFXAP | C | 100.00 | 100.00 | NM_000538.4 | |
RHOG | C | ||||
RHOH | C | 100.00 | 100.00 | NM_004310.5 | |
RIGI | C | ||||
RIPK1 | C | 100.00 | 100.00 | NM_001354930.2 | |
RMRP | C | ||||
RNASEH2A | C | 100.00 | 100.00 | NM_006397.3 | |
RNASEH2B | C | 100.00 | 100.00 | NM_024570.4 | |
RNASEH2C | C | 100.00 | 100.00 | NM_032193.4 | |
RNF168 | C | 100.00 | 100.00 | NM_152617.4 | |
RNF31 | C | 100.00 | 100.00 | NM_017999.5 | |
RNU4ATAC | C | ||||
RNU7-1 | C | ||||
RORC | C | 99.64 | 99.95 | NM_005060.4 | |
RPA1 | C | ||||
RPSA | C | 2 | 2 | NM_002295.6 | |
RSPH9 | C | 100.00 | 100.00 | NM_152732.5 | |
RTEL1 | C | 100.00 | 100.00 | NM_001283009.2 | |
SAMD9 | C | 100.00 | 100.00 | NM_017654.4 | |
SAMD9L | C | 100.00 | 100.00 | NM_152703.5 | |
SAMHD1 | C | 100.00 | 100.00 | NM_015474.4 | |
SASH3 | C | ||||
SAT1 | C | ||||
SBDS | C | 100.00 | 100.00 | NM_016038.4 | |
SEC61A1 | C | 100.00 | 100.00 | NM_013336.4 | |
SEMA3E | C | 99.98 | 100.00 | NM_012431.3 | |
SERAC1 | C | 100.00 | 100.00 | NM_032861.4 | |
SERPING1 | C | 100.00 | 100.00 | NM_000062.3 | |
SH2B3 | C | 100.00 | 100.00 | NM_005475.3 | |
SH2D1A | C | 99.9 | 100.00 | NM_002351.5 | |
SH3BP2 | C | 100.00 | 100.00 | NM_001122681.2 | |
SH3KBP1 | C | 99.99 | 99.99 | NM_031892.3 | |
SKIC2 | C | ||||
SKIC3 | C | ||||
SLC29A3 | C | 100.00 | 100.00 | NM_018344.6 | |
SLC35A1 | C | 100.00 | 100.00 | NM_006416.5 | |
SLC35C1 | C | 100.00 | 100.00 | NM_018389.5 | |
SLC37A4 | C | 100.00 | 100.00 | NM_001164278.2 | |
SLC39A4 | C | 100.00 | 100.00 | NM_130849.4 | |
SLC39A7 | C | 100.00 | 100.00 | NM_006979.3 | |
SLC46A1 | C | 100.00 | 100.00 | NM_080669.3 | |
SLC7A7 | C | 100.00 | 100.00 | NM_003982.4 | |
SMARCAL1 | C | 99.97 | 100.00 | NM_014140.4 | |
SMARCD2 | C | 99.96 | 100.00 | NM_001098426.2 | |
SNORA31 | C | ||||
SNX10 | C | 100.00 | 100.00 | NM_013322.3 | |
SOCS1 | C | ||||
SOCS4 | C | 100.00 | 100.00 | NM_199421.2 | |
SP110 | C | 100.00 | 100.00 | NM_080424.4 | |
SPI1 | C | ||||
SPINK5 | C | 100.00 | 100.00 | NM_006846.4 | |
SPPL2A | C | 99.94 | 99.99 | NM_032802.4 | |
SRP72 | C | 99.96 | 100.00 | NM_006947.4 | |
STAT1 | C | 99.94 | 100.00 | NM_007315.4 | |
STAT2 | C | 99.96 | 100.00 | NM_005419.4 | |
STAT2 | C | 99.96 | 100.00 | NM_005419.4 | |
STAT3 | C | 99.98 | 100.00 | NM_139276.3 | |
STAT4 | C | 100.00 | 100.00 | NM_003151.4 | |
STAT5B | C | 99.7 | 99.95 | NM_012448.4 | |
STAT6 | C | 99.99 | 100.00 | NM_003153.5 | |
STIM1 | C | 100.00 | 100.00 | NM_001382567.1 | |
STING1 | C | 100.00 | 100.00 | NM_198282.4 | |
STK4 | C | 100.00 | 100.00 | NM_006282.5 | |
STN1 | C | 99.98 | 100.00 | NM_024928.5 | |
STX11 | C | 100.00 | 100.00 | NM_003764.4 | |
STXBP2 | C | 100.00 | 100.00 | NM_006949.4 | |
SYK | C | ||||
TAFAZZIN | C | 100.00 | 100.00 | NM_000116.5 | |
TAP1 | C | 99.99 | 100.00 | NM_000593.6 | |
TAP2 | C | 100.00 | 100.00 | NM_001290043.2 | |
TAPBP | C | 100.00 | 100.00 | NM_003190.5 | |
TBX1 | C | 85.9 | 89.95 | NM_001379200.1 | |
TBX21 | C | ||||
TCF3 | C | 99.98 | 100.00 | NM_003200.5 | |
TCIRG1 | C | 100.00 | 100.00 | NM_006019.4 | |
TCN2 | C | 100.00 | 100.00 | NM_000355.4 | |
TERC | C | ||||
TERT | C | 100.00 | 100.00 | NM_198253.3 | |
TET2 | C | 100.00 | 100.00 | NM_001127208.3 | |
TFRC | C | 100.00 | 100.00 | NM_001128148.3 | |
TGFB1 | C | 100.00 | 100.00 | NM_000660.7 | |
THBD | C | 100.00 | 100.00 | NM_000361.3 | |
TICAM1 | C | 100.00 | 100.00 | NM_182919.4 | |
TINF2 | C | 100.00 | 100.00 | NM_001099274.3 | |
TIRAP | C | 100.00 | 100.00 | NM_001318777.2 | |
TLR3 | C | 100.00 | 100.00 | NM_003265.3 | |
TLR4 | C | 100.00 | 100.00 | NM_138554.5 | |
TLR7 | C | 100.00 | 100.00 | NM_016562.4 | |
TLR8 | C | 99.98 | 100.00 | NM_138636.5 | |
TMC6 | C | 100.00 | 100.00 | NM_001127198.5 | |
TMC8 | C | 99.99 | 100.00 | NM_152468.5 | |
TNFAIP3 | C | 100.00 | 100.00 | NM_001270508.2 | |
TNFRSF11A | C | 98.66 | 99.59 | NM_003839.4 | |
TNFRSF13B | C | 99.72 | 100.00 | NM_012452.3 | |
TNFRSF13C | C | 100.00 | 100.00 | NM_052945.4 | |
TNFRSF1A | C | 100.00 | 100.00 | NM_001065.4 | |
TNFRSF4 | C | 100.00 | 100.00 | NM_003327.4 | |
TNFRSF9 | C | 100.00 | 100.00 | NM_001561.6 | |
TNFSF11 | C | 100.00 | 100.00 | NM_003701.4 | |
TNFSF12 | C | 100.00 | 100.00 | NM_003809.3 | |
TNFSF13 | C | ||||
TOM1 | C | ||||
TOP2B | C | 99.97 | 100.00 | NM_001330700.2 | |
TPP2 | C | 100.00 | 100.00 | NM_001330588.2 | |
TRAC | C | ||||
TRAF3 | C | 100.00 | 100.00 | NM_145725.3 | |
TRAF3IP2 | C | 99.97 | 100.00 | NM_147686.4 | |
TREX1 | C | 100.00 | 100.00 | NM_033629.6 | |
TRIM22 | C | 100.00 | 100.00 | NM_006074.5 | |
TRNT1 | C | 100.00 | 100.00 | NM_182916.3 | |
TTC7A | C | 99.86 | 100.00 | NM_020458.4 | |
TYK2 | C | 99.99 | 100.00 | NM_003331.5 | |
UBA1 | C | 99.99 | 100.00 | NM_003334.4 | |
UNC13D | C | 99.99 | 100.00 | NM_199242.3 | |
UNC93B1 | C | 99.99 | 100.00 | NM_030930.2 | |
UNG | C | 100.00 | 100.00 | NM_080911.3 | |
USB1 | C | 100.00 | 100.00 | NM_024598.4 | |
USP18 | C | 94.1 | 95.11 | NM_017414.4 | |
VAV1 | C | 100.00 | 100.00 | NM_005428.4 | |
VPS13B | C | 100.00 | 100.00 | NM_152564.5 | |
VPS45 | C | 9.44 | 11.59 | NM_007259.5 | |
WAS | C | 99.81 | 100.00 | NM_000377.3 | |
WDR1 | C | 99.98 | 99.99 | NM_017491.5 | |
WIPF1 | C | 100.00 | 100.00 | NM_001375834.1 | |
WRAP53 | C | 100.00 | 100.00 | NM_001143992.2 | |
XIAP | C | 100.00 | 100.00 | NM_001167.4 | |
ZAP70 | C | 99.99 | 100.00 | NM_001079.4 | |
ZBTB24 | C | 100.00 | 100.00 | NM_014797.3 | |
ZNF341 | C | 100.00 | 100.00 | NM_001282933.2 | |
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