| Panel naam | NGS Primaire immunodeficientie PID |
|---|---|
| Panel methode | Wes-based NGS |
| Panel versie ** | GF-PIDv13 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Notitie | Coverage gegevens volgen nog. |
| Locatie | Locatie AMC |
| Genen (475) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| 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 | 100.00 | 100.00 | NM_025144.4 | |
| 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 | 99.51 | 99.84 | NM_001170535.3 | |
| ATG4A | C | 100.00 | 100.00 | NM_052936.5 | |
| 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 | 100.00 | 100.00 | NM_153689.6 | |
| 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 | 99.99 | 100.00 | NM_014550.4 | |
| 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 | 100.00 | 100.00 | NM_006139.4 | |
| 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 | 100.00 | 100.00 | NM_000616.5 | |
| 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 | 99.99 | 100.00 | NM_001791.4 | |
| 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 | 100.00 | 100.00 | NM_001278.5 | |
| 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 | 100.00 | 100.00 | NM_016128.4 | |
| CORO1A | C | 92.06 | 92.27 | NM_007074.4 | |
| CR2 | C | 100.00 | 100.00 | NM_001006658.3 | |
| CRACR2A | C | 100.00 | 100.00 | NM_001144958.2 | |
| 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 | 100.00 | 100.00 | NM_030877.5 | |
| CTPS1 | C | 99.83 | 100.00 | NM_001905.4 | |
| CTSC | C | 100.00 | 100.00 | NM_001814.6 | |
| CXCR2 | C | 100.00 | 100.00 | NM_001557.4 | |
| 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 | 100.00 | 100.00 | NM_005219.5 | |
| 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 | 100.00 | 100.00 | NM_001253697.2 | |
| 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 | 100.00 | 100.00 | NM_017671.5 | |
| FERMT3 | C | 100.00 | 100.00 | NM_031471.6 | |
| FNIP1 | C | 100.00 | 100.00 | NM_133372.3 | |
| FOXI3 | C | 84.75 | 90.25 | NM_001135649.3 | |
| 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 | 100.00 | 100.00 | NM_002110.5 | |
| HELLS | C | 100.00 | 100.00 | NM_018063.5 | |
| HMOX1 | C | 100.00 | 100.00 | NM_002133.3 | |
| HS3ST6 | C | 99.53 | 99.82 | NM_001009606.4 | |
| 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 | 100.00 | 100.00 | NM_000619.3 | |
| 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 | 100.00 | 100.00 | NM_001387220.1 | |
| IKZF3 | C | 100.00 | 100.00 | NM_012481.5 | |
| 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 | 100.00 | 100.00 | NM_002221.4 | |
| ITPR3 | C | 100.00 | 100.00 | NM_002224.4 | |
| 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 | 99.96 | 100.00 | NM_001197104.2 | |
| KMT2D | C | 99.99 | 100.00 | NM_003482.4 | |
| KNG1 | C | 100.00 | 100.00 | NM_001102416.3 | |
| 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 | 100.00 | 100.00 | NM_005565.5 | |
| 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 | 100.00 | 100.00 | NM_173491.4 | |
| 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 | 99.99 | 100.00 | NM_015274.3 | |
| MANBA | C | 100.00 | 100.00 | NM_005908.4 | |
| MAP1LC3B2 | C | 100.00 | 100.00 | NM_001085481.3 | |
| MAP3K14 | C | 99.99 | 100.00 | NM_003954.5 | |
| MAPK8 | C | 99.87 | 100.00 | NM_001323329.2 | |
| MASP2 | C | 100.00 | 100.00 | NM_006610.4 | |
| MC2R | C | 100.00 | 100.00 | NM_000529.2 | |
| MCM10 | C | 100.00 | 100.00 | NM_018518.5 | |
| 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 | 100.00 | 100.00 | NM_001039396.2 | |
| 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 | 100.00 | 100.00 | NM_013451.4 | |
| 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 | 96.28 | 96.28 | NM_000625.4 | |
| 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 | 100.00 | 100.00 | NM_001257096.2 | |
| 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 | 100.00 | 100.00 | NM_005018.3 | |
| 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 | 99.99 | 100.00 | NM_001282426.2 | |
| 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 | 99.95 | 100.00 | NM_006466.4 | |
| POMP | C | 99.98 | 100.00 | NM_015932.6 | |
| POT1 | C | 100.00 | 100.00 | NM_015450.3 | |
| POU2AF1 | C | 99.72 | 100.00 | NM_006235.3 | |
| 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 | 99.98 | 100.00 | NM_001291746.2 | |
| RELA | C | 99.98 | 99.98 | NM_021975.4 | |
| 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 | 100.00 | 100.00 | NM_001665.4 | |
| 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 | 100.00 | 100.00 | NM_002945.5 | |
| 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 | 100.00 | 100.00 | NM_018990.4 | |
| SAT1 | C | 100.00 | 100.00 | NM_002970.4 | |
| 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 | 100.00 | 100.00 | NM_003745.2 | |
| SOCS4 | C | 100.00 | 100.00 | NM_199421.2 | |
| SP110 | C | 100.00 | 100.00 | NM_080424.4 | |
| SPI1 | C | 99.97 | 100.00 | NM_003120.3 | |
| 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 | 100.00 | 100.00 | NM_003177.7 | |
| 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 | 100.00 | 100.00 | NM_013351.2 | |
| 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 | 100.00 | 100.00 | NM_003808.4 | |
| TOM1 | C | 100.00 | 100.00 | NM_005488.3 | |
| 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 | 100.00 | 100.00 | NM_021035.3 |
| 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