Belgian Genetic Tests database- Analytes
- TAP2
TAP2
| Name: |
transporter 2, ATP binding cassette subfamily B member
|
| Symbol: |
TAP2
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| Synonyms: |
D6S217E
PSF2
RING11
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
22 Jun 2023 - 16:14
|
-
Primary immune deficiencies (444 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95% ACP5 95.00 0 NM_001111035.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ADA 95.00 0 NM_000022.3/ interpretable range CS1>95% ADA2 95.00 1 NM_001282225.1/ interpretable range CS1>95% ADAM17 95.00 0 NM_003183.6/ interpretable range CS1>95% ADAR 95.00 0 NM_001111.5/ interpretable range CS1>95% AICDA 95.00 0 NM_020661.3/ interpretable range CS1>95% AIRE 95.00 0 NM_000383.3/ interpretable range CS1>95% AK2 95.00 0 NM_001625.3/ interpretable range CS1>95% ALPI 95.00 0 NM_001631.4/ interpretable range CS1>95% AP1S3 95.00 0 NM_001039569.1/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95% APOL1 95.00 0 NM_003661.3/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.4/ interpretable range CS1>95% ATAD3A 95.00 0 NM_001170535.2/ interpretable range CS1>95% ATG4A 95.00 0 NM_052936.4/ interpretable range CS1>95% ATM 95.00 0 NM_000051.3/ interpretable range CS1>95% ATP6AP1 95.00 0 NM_001183.5/ interpretable range CS1>95% ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95% B2M 95.00 0 NM_004048.2/ interpretable range CS1>95% BACH2 95.00 0 NM_021813.3/ interpretable range CS1>95% BCL10 95.00 0 NM_003921.5/ interpretable range CS1>95% BCL11B 95.00 0 NM_138576.3/ interpretable range CS1>95% BLM 95.00 0 NM_000057.3/ interpretable range CS1>95% BLNK 95.00 0 NM_013314.3/ interpretable range CS1>95% BPIFA1 95.00 0 NM_016583.3/ interpretable range CS1>95% BTK 95.00 0 NM_000061.2/ interpretable range CS1>95% C1QA 95.00 0 NM_015991.3/ interpretable range CS1>95% C1QB 95.00 0 NM_000491.4/ interpretable range CS1>95% C1QC 95.00 0 NM_172369.4/ interpretable range CS1>95% C1R 95.00 0 NM_001733.6/ interpretable range CS1>95% C1S 95.00 0 NM_201442.3/ interpretable range CS1>95% C2 95.00 0 NM_000063.5/ interpretable range CS1>95% C2orf69 95.00 0 NM_153689.5/ interpretable range CS1>95% C3 95.00 0 NM_000064.3/ interpretable range CS1>95% C5 95.00 0 NM_001735.2/ interpretable range CS1>95% C6 95.00 0 NM_000065.3/ interpretable range CS1>95% C7 95.00 0 NM_000587.3/ interpretable range CS1>95% C8A 95.00 0 NM_000562.2/ interpretable range CS1>95% C8B 95.00 0 NM_000066.3/ interpretable range CS1>95% C9 95.00 0 NM_001737.4/ interpretable range CS1>95% CARD11 95.00 0 NM_032415.5/ interpretable range CS1>95% CARD14 95.00 0 NM_024110.4/ interpretable range CS1>95% CARD9 95.00 0 NM_052813.4/ interpretable range CS1>95% CARMIL2 95.00 0 NM_001013838.2/ interpretable range CS1>95% CASP10 95.00 0 NM_032977.3/ interpretable range CS1>95% CASP8 95.00 0 NM_001228.4/ interpretable range CS1>95% CCBE1 95.00 0 NM_133459.4/ interpretable range CS1>95% CD19 95.00 0 NM_001770.5/ interpretable range CS1>95% CD247 95.00 0 NM_198053.2/ interpretable range CS1>95% CD27 95.00 0 NM_001242.4/ interpretable range CS1>95% CD28 95.00 0 NM_006139.3/ interpretable range CS1>95% CD3D 95.00 0 NM_000732.4/ interpretable range CS1>95% CD3E 95.00 0 NM_000733.3/ interpretable range CS1>95% CD3G 95.00 0 NM_000073.2/ interpretable range CS1>95% CD4 95.00 0 NM_000616.4/ interpretable range CS1>95% CD40 95.00 0 NM_001250.5/ interpretable range CS1>95% CD40LG 95.00 0 NM_000074.2/ interpretable range CS1>95% CD46 95.00 0 NM_002389.4/ interpretable range CS1>95% CD48 95.00 0 NM_001778.3/ interpretable range CS1>95% CD55 95.00 0 NM_000574.4/ interpretable range CS1>95% CD59 95.00 0 NM_203330.2/ interpretable range CS1>95% CD70 95.00 0 NM_001252.4/ interpretable range CS1>95% CD79A 95.00 0 NM_001783.3/ interpretable range CS1>95% CD79B 95.00 0 NM_000626.3/ interpretable range CS1>95% CD81 95.00 0 NM_004356.3/ interpretable range CS1>95% CD8A 95.00 0 NM_001768.6/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CDCA7 95.00 0 NM_031942.4/ interpretable range CS1>95% CDH17 95.00 0 NM_004063.3/ interpretable range CS1>95% CEBPE 95.00 0 NM_001805.3/ interpretable range CS1>95% CFB 95.00 0 NM_001710.5/ interpretable range CS1>95% CFD 95.00 0 NM_001928.3/ interpretable range CS1>95% CFH 95.00 0 NM_000186.3/ interpretable range CS1>95% CFHR1 95.00 0 NM_002113.2/ interpretable range CS1>95% CFHR2 95.00 0 NM_005666.3/ interpretable range CS1>95% CFHR3 95.00 0 NM_021023.5/ interpretable range CS1>95% CFHR4 95.00 0 NM_001201550.2/ interpretable range CS1>95% CFHR5 95.00 0 NM_030787.3/ interpretable range CS1>95% CFI 95.00 0 NM_000204.4/ interpretable range CS1>95% CFP 95.00 0 NM_002621.2/ interpretable range CS1>95% CFTR 95.00 0 NM_000492.3/ interpretable range CS1>95% CHD7 95.00 0 NM_017780.3/ interpretable range CS1>95% CHUK 95.00 0 NM_001278.4/ interpretable range CS1>95% CIB1 95.00 0 NM_006384.3/ interpretable range CS1>95% CIITA 95.00 0 NM_000246.3/ interpretable range CS1>95% CLCN7 95.00 0 NM_001287.5/ interpretable range CS1>95% CLPB 95.00 0 NM_030813.5/ interpretable range CS1>95% COPA 95.00 0 NM_004371.3/ interpretable range CS1>95% COPG1 95.00 0 NM_016128.3/ interpretable range CS1>95% CORO1A 95.00 0 NM_007074.3/ interpretable range CS1>95% CR2 95.00 0 NM_001006658.2/ interpretable range CS1>95% CRACR2A 95.00 0 NM_001144958.1/ interpretable range CS1>95% CSF2RB 95.00 0 NM_000395.2/ interpretable range CS1>95% CSF3R 95.00 0 NM_000760.3/ interpretable range CS1>95% CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95% CTLA4 95.00 0 NM_005214.4/ interpretable range CS1>95% CTNNBL1 95.00 0 NM_030877.4/ interpretable range CS1>95% CTPS1 95.00 0 NM_001905.3/ interpretable range CS1>95% CTSC 95.00 0 NM_001814.5/ interpretable range CS1>95% CXCR2 95.00 0 NM_001557.3/ interpretable range CS1>95% CXCR4 95.00 0 NM_003467.2/ interpretable range CS1>95% CYBA 95.00 0 NM_000101.3/ interpretable range CS1>95% CYBB 95.00 1 NM_000397.3/ interpretable range CS1>95% CYBC1 95.00 0 NM_001033046.3/ interpretable range CS1>95% DBR1 95.00 0 NM_016216.3/ interpretable range CS1>95% DCLRE1B 95.00 0 NM_022836.3/ interpretable range CS1>95% DCLRE1C 95.00 0 NM_001033855.2/ interpretable range CS1>95% DEF6 95.00 0 NM_022047.3/ interpretable range CS1>95% DGAT1 95.00 0 NM_012079.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95% DNAJC21 95.00 0 NM_001012339.3/ interpretable range CS1>95% DNASE1 95.00 0 NM_005223.3/ interpretable range CS1>95% DNASE1L3 95.00 0 NM_004944.3/ interpretable range CS1>95% DNASE2 95.00 0 NM_001375.2/ interpretable range CS1>95% DNMT3B 95.00 0 NM_006892.3/ interpretable range CS1>95% DOCK2 95.00 0 NM_004946.2/ interpretable range CS1>95% DOCK8 95.00 0 NM_203447.3/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.3/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% EFL1 95.00 0 NM_024580.5/ interpretable range CS1>95% ELANE 95.00 0 NM_001972.3/ interpretable range CS1>95% ELF4 95.00 0 NM_001421.3/ interpretable range CS1>95% EPG5 95.00 0 NM_020964.2/ interpretable range CS1>95% ERBIN 95.00 0 NM_001253697.1/ interpretable range CS1>95% EXTL3 95.00 0 NM_001440.3/ interpretable range CS1>95% FADD 95.00 0 NM_003824.3/ interpretable range CS1>95% FAS 95.00 0 NM_000043.5/ interpretable range CS1>95% FASLG 95.00 0 NM_000639.2/ interpretable range CS1>95% FAT4 95.00 0 NM_024582.4/ interpretable range CS1>95% FCGR3A 95.00 0 NM_000569.7/ interpretable range CS1>95% FCHO1 95.00 0 NM_015122.2/ interpretable range CS1>95% FCN3 95.00 0 NM_003665.3/ interpretable range CS1>95% FERMT1 95.00 0 NM_017671.4/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FNIP1 95.00 0 NM_133372.2/ interpretable range CS1>95% FOXN1 95.00 0 NM_003593.2/ interpretable range CS1>95% FOXP3 95.00 0 NM_014009.3/ interpretable range CS1>95% G6PC3 95.00 0 NM_138387.3/ interpretable range CS1>95% G6PD 95.00 0 NM_001042351.2/ interpretable range CS1>95% GATA2 95.00 1 NM_032638.4/ interpretable range CS1>95% GFI1 95.00 0 NM_005263.4/ interpretable range CS1>95% GIMAP5 95.00 0 NM_018384.4/ interpretable range CS1>95% GIMAP6 95.00 0 NM_001244072.1/ interpretable range CS1>95% GINS1 95.00 0 NM_021067.4/ interpretable range CS1>95% GUCY2C 95.00 0 NM_004963.3/ interpretable range CS1>95% HAVCR2 95.00 0 NM_032782.4/ interpretable range CS1>95% HAX1 95.00 0 NM_006118.3/ interpretable range CS1>95% HCK 95.00 0 NM_002110.3/ interpretable range CS1>95% HELLS 95.00 0 NM_018063.4/ interpretable range CS1>95% HTRA2 95.00 0 NM_013247.4/ interpretable range CS1>95% HYOU1 95.00 0 NM_006389.4/ interpretable range CS1>95% ICOS 95.00 0 NM_012092.3/ interpretable range CS1>95% IFIH1 95.00 0 NM_022168.3/ interpretable range CS1>95% IFNAR1 95.00 0 NM_000629.2/ interpretable range CS1>95% IFNAR2 95.00 0 NM_207585.2/ interpretable range CS1>95% IFNG 95.00 0 NM_000619.2/ interpretable range CS1>95% IFNGR1 95.00 0 NM_000416.2/ interpretable range CS1>95% IFNGR2 95.00 0 NM_005534.3/ interpretable range CS1>95% IGLL1 95.00 0 NM_020070.3/ interpretable range CS1>95% IKBKB 95.00 0 NM_001556.2/ interpretable range CS1>95% IKBKG 95.00 0 NM_001099857.2/ interpretable range CS1>95% IKZF1 95.00 0 NM_006060.6/ interpretable range CS1>95% IKZF2 95.00 0 NM_001079526.1/ interpretable range CS1>95% IKZF3 95.00 0 NM_012481.4/ interpretable range CS1>95% IL10 95.00 0 NM_000572.2/ interpretable range CS1>95% IL10RA 95.00 0 NM_001558.3/ interpretable range CS1>95% IL10RB 95.00 0 NM_000628.4/ interpretable range CS1>95% IL12B 95.00 0 NM_002187.2/ interpretable range CS1>95% IL12RB1 95.00 0 NM_005535.2/ interpretable range CS1>95% IL12RB2 95.00 0 NM_001559.2/ interpretable range CS1>95% IL17F 95.00 0 NM_052872.3/ interpretable range CS1>95% IL17RA 95.00 0 NM_014339.6/ interpretable range CS1>95% IL17RC 95.00 0 NM_153461.3/ interpretable range CS1>95% IL18BP 95.00 0 NM_173042.2/ interpretable range CS1>95% IL1RN 95.00 0 NM_173841.2/ interpretable range CS1>95% IL21 95.00 0 NM_021803.3/ interpretable range CS1>95% IL21R 95.00 0 NM_021798.3/ interpretable range CS1>95% IL23R 95.00 0 NM_144701.2/ interpretable range CS1>95% IL2RA 95.00 0 NM_000417.2/ interpretable range CS1>95% IL2RB 95.00 0 NM_000878.4/ interpretable range CS1>95% IL2RG 95.00 0 NM_000206.2/ interpretable range CS1>95% IL36RN 95.00 0 NM_012275.2/ interpretable range CS1>95% IL37 95.00 0 NM_014439.3/ interpretable range CS1>95% IL6R 95.00 0 NM_000565.3/ interpretable range CS1>95% IL6ST 95.00 0 NM_002184.3/ interpretable range CS1>95% IL7 95.00 0 NM_000880.3/ interpretable range CS1>95% IL7R 95.00 0 NM_002185.4/ interpretable range CS1>95% INO80 95.00 0 NM_017553.2/ interpretable range CS1>95% IRAK1 95.00 0 NM_001569.3/ interpretable range CS1>95% IRAK4 95.00 0 NM_016123.3/ interpretable range CS1>95% IRF2BP2 95.00 0 NM_182972.2/ interpretable range CS1>95% IRF3 95.00 0 NM_001571.5/ interpretable range CS1>95% IRF4 95.00 0 NM_002460.3/ interpretable range CS1>95% IRF7 95.00 0 NM_004031.2/ interpretable range CS1>95% IRF8 95.00 0 NM_002163.2/ interpretable range CS1>95% IRF9 95.00 0 NM_006084.4/ interpretable range CS1>95% ISG15 95.00 0 NM_005101.3/ interpretable range CS1>95% ITCH 95.00 0 NM_031483.6/ interpretable range CS1>95% ITGB2 95.00 0 NM_000211.4/ interpretable range CS1>95% ITK 95.00 0 NM_005546.3/ interpretable range CS1>95% ITPKB 95.00 0 NM_002221.3/ interpretable range CS1>95% ITPKC 95.00 0 NM_025194.2/ interpretable range CS1>95% ITPR3 95.00 0 NM_002224.3/ interpretable range CS1>95% JAGN1 95.00 0 NM_032492.3/ interpretable range CS1>95% JAK1 95.00 0 NM_002227.3/ interpretable range CS1>95% JAK3 95.00 0 NM_000215.3/ interpretable range CS1>95% KARS1 95.00 0 NM_001130089.1/ interpretable range CS1>95% KMT2A 95.00 0 NM_001197104.1/ interpretable range CS1>95% KMT2D 95.00 0 NM_003482.3/ interpretable range CS1>95% KPNA2 95.00 0 NM_001320611.1/ interpretable range CS1>95% KRAS 95.00 0 NM_004985.4/ interpretable range CS1>95% LACC1 95.00 0 NM_001128303.2/ interpretable range CS1>95% LAMTOR2 95.00 0 NM_014017.3/ interpretable range CS1>95% LAT 95.00 0 NM_001014987.1/ interpretable range CS1>95% LCK 95.00 0 NM_001042771.2/ interpretable range CS1>95% LCP2 95.00 0 NM_005565.4/ interpretable range CS1>95% LIG1 95.00 0 NM_000234.2/ interpretable range CS1>95% LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95% LPIN2 95.00 0 NM_014646.2/ interpretable range CS1>95% LRBA 95.00 0 NM_006726.4/ interpretable range CS1>95% LRRC32 95.00 0 NM_005512.2/ interpretable range CS1>95% LRRC8A 95.00 0 NM_019594.3/ interpretable range CS1>95% LSM11 95.00 0 NM_173491.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95% MALT1 95.00 0 NM_006785.3/ interpretable range CS1>95% MAN2B2 95.00 0 NM_015274.2/ interpretable range CS1>95% MAP1LC3B2 95.00 0 NM_001085481.2/ interpretable range CS1>95% MAP3K14 95.00 0 NM_003954.4/ interpretable range CS1>95% MAPK8 95.00 0 NM_139049.3/ interpretable range CS1>95% MASP2 95.00 0 NM_006610.3/ interpretable range CS1>95% MBL2 95.00 0 NM_000242.2/ interpretable range CS1>95% MCM10 95.00 0 NM_182751.2/ interpretable range CS1>95% MCM4 95.00 0 NM_005914.3/ interpretable range CS1>95% MEFV 95.00 0 NM_000243.2/ interpretable range CS1>95% MOGS 95.00 0 NM_020831.4/ interpretable range CS1>95% MPO 95.00 0 NM_006302.2/ interpretable range CS1>95% MRTFA 95.00 0 NM_000250.1/ interpretable range CS1>95% MS4A1 95.00 0 NM_152866.2/ interpretable range CS1>95% MSN 95.00 0 NM_002444.2/ interpretable range CS1>95% MTHFD1 95.00 0 NM_005956.3/ interpretable range CS1>95% MVK 95.00 0 NM_000431.3/ interpretable range CS1>95% MYD88 95.00 0 NM_002468.4/ interpretable range CS1>95% MYO5B 95.00 0 NM_001080467.2/ interpretable range CS1>95% MYSM1 95.00 0 NM_001085487.2/ interpretable range CS1>95% NBAS 95.00 0 NM_015909.3/ interpretable range CS1>95% NCF1 95.00 0 NM_000265.5/ interpretable range CS1>95% NCF2 95.00 0 NM_000433.3/ interpretable range CS1>95% NCF4 95.00 0 NM_013416.3/ interpretable range CS1>95% NCKAP1 95.00 0 NM_205842.2/ interpretable range CS1>95% NCKAP1L 95.00 0 NM_005337.4/ interpretable range CS1>95% NCSTN 95.00 0 NM_015331.2/ interpretable range CS1>95% NFAT5 95.00 0 NM_138714.3/ interpretable range CS1>95% NFE2L2 95.00 0 NM_006164.4/ interpretable range CS1>95% NFKB1 95.00 0 NM_003998.3/ interpretable range CS1>95% NFKB2 95.00 0 NM_001077494.3/ interpretable range CS1>95% NFKBIA 95.00 0 NM_020529.2/ interpretable range CS1>95% NHEJ1 95.00 0 NM_024782.2/ interpretable range CS1>95% NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95% NLRC4 95.00 0 NM_021209.4/ interpretable range CS1>95% NLRP1 95.00 0 NM_033004.3/ interpretable range CS1>95% NLRP12 95.00 0 NM_144687.3/ interpretable range CS1>95% NLRP3 95.00 0 NM_004895.4/ interpretable range CS1>95% NOD2 95.00 0 NM_022162.2/ interpretable range CS1>95% NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95% NOS2 95.00 0 NM_000625.4/ interpretable range CS1>95% NRAS 95.00 0 NM_002524.4/ interpretable range CS1>95% NSMCE3 95.00 0 NM_138704.3/ interpretable range CS1>95% OAS1 95.00 0 NM_032790.3/ interpretable range CS1>95% ORAI1 95.00 0 NM_014028.3/ interpretable range CS1>95% OSTM1 95.00 0 NM_138348.5/ interpretable range CS1>95% OTULIN 95.00 0 NM_002582.3/ interpretable range CS1>95% PARN 95.00 0 NM_006192.4/ interpretable range CS1>95% PAX1 95.00 0 NM_005018.2/ interpretable range CS1>95% PDCD1 95.00 0 NM_000285.3/ interpretable range CS1>95% PEPD 95.00 0 NM_001199917.1/ interpretable range CS1>95% PGM3 95.00 0 NM_058004.3/ interpretable range CS1>95% PI4KA 95.00 0 NM_005026.4/ interpretable range CS1>95% PIK3CD 95.00 0 NM_002649.3/ interpretable range CS1>95% PIK3CG 95.00 0 NM_181523.2/ interpretable range CS1>95% PIK3R1 95.00 0 NM_002661.4/ interpretable range CS1>95% PLCG2 95.00 0 NM_014798.2/ interpretable range CS1>95% PLEKHM1 95.00 0 NM_000535.6/ interpretable range CS1>95% PMS2 95.00 0 NM_016937.3/ interpretable range CS1>95% PNP 95.00 0 NM_002691.3/ interpretable range CS1>95% POLA1 95.00 0 NM_006230.3/ interpretable range CS1>95% POLD1 95.00 0 NM_006231.3/ interpretable range CS1>95% POLD2 95.00 0 NM_002692.3/ interpretable range CS1>95% POLE 95.00 0 NM_007055.3/ interpretable range CS1>95% POLE2 95.00 0 NM_001303456.1/ interpretable range CS1>95% POLR3A 95.00 0 NM_001282526.1/ interpretable range CS1>95% POLR3C 95.00 0 NM_015932.5/ interpretable range CS1>95% POLR3E 95.00 0 NM_006235.2/ interpretable range CS1>95% POLR3F 95.00 0 NM_001083116.2/ interpretable range CS1>95% POMP 95.00 0 NM_015932.6/ interpretable range CS1>95% POU2AF1 95.00 0 NM_006254.3/ interpretable range CS1>95% PRF1 95.00 0 NM_006904.6/ interpretable range CS1>95% PRKCD 95.00 0 NM_172341.3/ interpretable range CS1>95% PRKDC 95.00 0 NM_002788.3/ interpretable range CS1>95% PSENEN 95.00 0 NM_002801.3/ interpretable range CS1>95% PSMA3 95.00 0 NM_002796.2/ interpretable range CS1>95% PSMB10 95.00 0 NM_148919.3/ interpretable range CS1>95% PSMB4 95.00 0 NM_002800.4/ interpretable range CS1>95% PSMB8 95.00 0 NM_147163.1/ interpretable range CS1>95% PSMB9 95.00 0 NM_003978.4/ interpretable range CS1>95% PSMG2 95.00 0 NM_000314.6/ interpretable range CS1>95% PSTPIP1 95.00 0 NM_002828.3/ interpretable range CS1>95% PTEN 95.00 0 NM_002838.4/ interpretable range CS1>95% PTPN2 95.00 0 NM_004580.4/ interpretable range CS1>95% PTPRC 95.00 0 NM_002872.4/ interpretable range CS1>95% RAB27A 95.00 0 NM_000448.2/ interpretable range CS1>95% RAC2 95.00 0 NM_000536.3/ interpretable range CS1>95% RAG1 95.00 0 NM_006267.4/ interpretable range CS1>95% RAG2 95.00 0 NM_005739.3/ interpretable range CS1>95% RANBP2 95.00 0 NM_031229.3/ interpretable range CS1>95% RASGRP1 95.00 0 NM_172071.3/ interpretable range CS1>95% RBCK1 95.00 0 NM_004260.3/ interpretable range CS1>95% RC3H1 95.00 0 NM_002908.3/ interpretable range CS1>95% RECQL4 95.00 0 NM_021975.3/ interpretable range CS1>95% REL 95.00 0 NM_006509.3/ interpretable range CS1>95% RELA 95.00 0 NM_000449.3/ interpretable range CS1>95% RELB 95.00 0 NM_003721.3/ interpretable range CS1>95% RFX5 95.00 0 NM_000538.3/ interpretable range CS1>95% RFXANK 95.00 0 NM_001665.3/ interpretable range CS1>95% RFXAP 95.00 0 NM_004310.4/ interpretable range CS1>95% RHOG 95.00 0 NM_003804.5/ interpretable range CS1>95% RHOH 95.00 0 NM_006397.2/ interpretable range CS1>95% RIGI 95.00 0 NM_014314.4/ interpretable range CS1>95% RIPK1 95.00 0 NM_024570.3/ interpretable range CS1>95% RNASEH2A 95.00 0 NM_032193.3/ interpretable range CS1>95% RNASEH2B 95.00 0 NM_152617.3/ interpretable range CS1>95% RNASEH2C 95.00 0 NM_017999.4/ interpretable range CS1>95% RNF168 95.00 0 NM_005060.3/ interpretable range CS1>95% RNF31 95.00 0 NM_002945.4/ interpretable range CS1>95% RORC 95.00 0 NM_002295.5/ interpretable range CS1>95% RPA1 95.00 0 NM_002945.5/ interpretable range CS1>95% RPSA 95.00 0 NM_032957.4/ interpretable range CS1>95% RTEL1 95.00 0 NM_017654.3/ interpretable range CS1>95% SAMD9 95.00 0 NM_152703.4/ interpretable range CS1>95% SAMD9L 95.00 0 NM_015474.3/ interpretable range CS1>95% SAMHD1 95.00 0 NM_018990.3/ interpretable range CS1>95% SASH3 95.00 0 NM_016038.3/ interpretable range CS1>95% SBDS 95.00 0 NM_013336.3/ interpretable range CS1>95% SEC61A1 95.00 0 NM_006378.3/ interpretable range CS1>95% SEMA4D 95.00 0 NM_000062.2/ interpretable range CS1>95% SERPING1 95.00 1 NM_002351.4/ interpretable range CS1>95% SH2D1A 95.00 0 NM_031892.2/ interpretable range CS1>95% SH3KBP1 95.00 0 NM_006929.4/ interpretable range CS1>95% SKIC2 95.00 0 NM_006929.5/ interpretable range CS1>95% SKIC3 95.00 0 NM_014639.4/ interpretable range CS1>95% SLC11A1 95.00 0 NM_018344.5/ interpretable range CS1>95% SLC29A3 95.00 0 NM_018389.4/ interpretable range CS1>95% SLC35C1 95.00 0 NM_001164277.1/ interpretable range CS1>95% SLC37A4 95.00 0 NM_006979.2/ interpretable range CS1>95% SLC39A7 95.00 0 NM_080669.5/ interpretable range CS1>95% SLC46A1 95.00 0 NM_001126106.2/ interpretable range CS1>95% SLC7A7 95.00 0 NM_014140.3/ interpretable range CS1>95% SMARCAL1 95.00 0 NM_001098426.1/ interpretable range CS1>95% SMARCD2 95.00 0 NR_002967.1/ interpretable range CS1>95% SNORA31 95.00 0 NM_001199835.1/ interpretable range CS1>95% SNX10 95.00 0 NM_003745.1/ interpretable range CS1>95% SOCS1 95.00 0 NM_004509.3/ interpretable range CS1>95% SP110 95.00 0 NM_004509.5/ interpretable range CS1>95% SPI1 95.00 0 NM_001080547.1/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.3/ interpretable range CS1>95% SPPL2A 95.00 0 NM_032802.3/ interpretable range CS1>95% SRP54 95.00 0 NM_003136.3/ interpretable range CS1>95% STAT1 95.00 0 NM_007315.3/ interpretable range CS1>95% STAT2 95.00 0 NM_005419.3/ interpretable range CS1>95% STAT3 95.00 0 NM_139276.2/ interpretable range CS1>95% STAT4 95.00 0 NM_003151.3/ interpretable range CS1>95% STAT5B 95.00 0 NM_012448.3/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STING1 95.00 0 NM_006282.4/ interpretable range CS1>95% STK4 95.00 0 NM_024928.4/ interpretable range CS1>95% STN1 95.00 0 NM_003764.3/ interpretable range CS1>95% STX11 95.00 0 NM_006949.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_007269.3/ interpretable range CS1>95% STXBP3 95.00 0 NM_003177.6/ interpretable range CS1>95% SYK 95.00 0 NM_000593.5/ interpretable range CS1>95% TAFAZZIN 95.00 0 NM_000116.5/ interpretable range CS1>95% TAP1 95.00 0 NM_001290043.1/ interpretable range CS1>95% TAP2 95.00 0 NM_003190.4/ interpretable range CS1>95% TAPBP 95.00 0 NM_000116.4/ interpretable range CS1>95% TBK1 95.00 0 NM_013254.3/ interpretable range CS1>95% TBX1 95.00 0 NM_080647.1/ interpretable range CS1>95% TBX21 95.00 0 NM_013351.1/ interpretable range CS1>95% TCF3 95.00 0 NM_003200.4/ interpretable range CS1>95% TCIRG1 95.00 0 NM_006019.3/ interpretable range CS1>95% TCN2 95.00 0 NM_000355.3/ interpretable range CS1>95% TERT 95.00 0 NM_198253.2/ interpretable range CS1>95% TET2 95.00 0 NM_001127208.2/ interpretable range CS1>95% TFRC 95.00 0 NM_003234.3/ interpretable range CS1>95% TGFB1 95.00 0 NM_000660.6/ interpretable range CS1>95% TGFBR1 95.00 0 NM_004612.3/ interpretable range CS1>95% TGFBR2 95.00 0 NM_003242.5/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% TICAM1 95.00 0 NM_182919.3/ interpretable range CS1>95% TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95% TLR3 95.00 0 NM_003265.2/ interpretable range CS1>95% TLR7 95.00 0 NM_016562.3/ interpretable range CS1>95% TLR8 95.00 0 NM_138636.5/ interpretable range CS1>95% TMC6 95.00 0 NM_007267.7/ interpretable range CS1>95% TMC8 95.00 0 NM_152468.4/ interpretable range CS1>95% TNFAIP3 95.00 0 NM_198282.3/ interpretable range CS1>95% TNFRSF11A 95.00 0 NM_006290.3/ interpretable range CS1>95% TNFRSF13B 95.00 0 NM_003839.3/ interpretable range CS1>95% TNFRSF13C 95.00 0 NM_012452.2/ interpretable range CS1>95% TNFRSF1A 95.00 0 NM_052945.3/ interpretable range CS1>95% TNFRSF4 95.00 0 NM_001065.3/ interpretable range CS1>95% TNFRSF9 95.00 0 NM_003327.3/ interpretable range CS1>95% TNFSF11 95.00 0 NM_001561.5/ interpretable range CS1>95% TNFSF12 95.00 0 NM_003701.3/ interpretable range CS1>95% TNFSF13 95.00 0 NM_003809.2/ interpretable range CS1>95% TOP2B 95.00 0 NM_003808.3/ interpretable range CS1>95% TPP2 95.00 0 NM_001068.3/ interpretable range CS1>95% TRAF3 95.00 0 NM_003291.3/ interpretable range CS1>95% TRAF3IP2 95.00 0 NM_003300.3/ interpretable range CS1>95% TREX1 95.00 0 NM_147686.3/ interpretable range CS1>95% TRIM22 95.00 0 NM_033629.5/ interpretable range CS1>95% TRNT1 95.00 0 NM_006074.4/ interpretable range CS1>95% TTC7A 95.00 0 NM_014639.3/ interpretable range CS1>95% TYK2 95.00 0 NM_020458.3/ interpretable range CS1>95% UBA1 95.00 0 NM_003331.4/ interpretable range CS1>95% UNC13D 95.00 0 NM_003334.3/ interpretable range CS1>95% UNC93B1 95.00 0 NM_199242.2/ interpretable range CS1>95% UNG 95.00 0 NM_030930.3/ interpretable range CS1>95% USB1 95.00 0 NM_080911.2/ interpretable range CS1>95% USP18 95.00 0 NM_024598.3/ interpretable range CS1>95% VPS13B 95.00 0 NM_017414.3/ interpretable range CS1>95% VPS45 95.00 0 NM_017890.4/ interpretable range CS1>95% WAS 95.00 0 NM_007259.5/ interpretable range CS1>95% WDR1 95.00 0 NM_000377.2/ interpretable range CS1>95% WIPF1 95.00 0 NM_017491.4/ interpretable range CS1>95% WRAP53 95.00 0 NM_001077269.1/ interpretable range CS1>95% XIAP 95.00 1 NM_001167.3/ interpretable range CS1>95% ZAP70 95.00 0 NM_001079.3/ interpretable range CS1>95% ZBTB24 95.00 0 NM_014797.2/ interpretable range CS1>95% ZNF341 95.00 0 NM_032819.4/ interpretable range CS1>95% ZNFX1 95.00 0 NM_021035.2/ interpretable range CS1>95% -
Primary immune deficiencies - UGent
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 RIGI 99.84 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 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 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 NT5C3A 99.95 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 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 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 PMP22 99.99 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 SKIC3 99.82 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