- Analytes
- MTX2
MTX2
Name: |
metaxin 2
|
Symbol: |
MTX2
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Version of Orphanet: |
2023-06-22 14:14:43
|
XREF(s): | |
Created: |
20 Aug 2021 - 01:08
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Changed: |
26 Oct 2023 - 23:49
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Nephropathies, hereditary (219 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 95.00 0 NM_000789.4 ACTN4 95.00 0 NM_004924.6 AGT 95.00 0 NM_001384479.1 AGTR1 95.00 0 NM_031850.4 AGXT 95.00 0 NM_000030.3 ALG5 95.00 0 NM_013338.5 ALG8 95.00 0 NM_024079.5 ALG9 95.00 0 NM_024740.2 AMN 95.00 0 NM_030943.4 ANKS6 95.00 0 NM_173551.5 ANLN 95.00 0 NM_018685.5 ANOS1 95.00 0 NM_000216.4 AP2S1 95.00 0 NM_004069.6 APOA1 95.00 0 NM_000039.3 APOA2 95.00 0 NM_001643.2 APOC2 95.00 0 NM_000483.5 APOE 95.00 0 NM_000041.4 APOL1 95.00 0 NM_003661.4 APRT 95.00 0 NM_000485.3 ARHGAP24 95.00 0 NM_001025616.3 ARHGDIA 95.00 0 NM_001185077.3 ATP6V0A4 95.00 0 NM_020632.3 ATP6V1B1 95.00 0 NM_001692.4 BMP4 95.00 0 NM_001202.6 BNC2 95.00 0 NM_017637.6 BSND 95.00 0 NM_057176.3 C3 95.00 0 NM_000064.4 CA2 95.00 0 NM_000067.3 CACNA1D 95.00 0 NM_000720.4 CACNA1H 95.00 0 NM_021098.3 CASR 95.00 0 NM_000388.4 CD2AP 95.00 0 NM_012120.3 CD46 95.00 0 NM_002389.4 CDC73 95.00 0 NM_024529.5 CDK20 95.00 0 NM_001039803.3 CEP164 95.00 0 NM_014956.5 CEP290 95.00 0 NM_025114.4 CEP83 95.00 0 NM_016122.3 CFB 95.00 0 NM_001710.6 CFH 95.00 0 NM_000186.4 CFHR1 95.00 0 NM_002113.3 CFHR3 95.00 0 NM_021023.6 CFHR5 95.00 0 NM_030787.4 CFI 95.00 0 NM_000204.5 CLCN2 95.00 0 NM_004366.6 CLCN5 95.00 0 NM_000084.5 CLCNKA 95.00 0 NM_004070.4 CLCNKB 95.00 0 NM_000085.5 CLDN10 95.00 0 NM_006984.5 CLDN16 95.00 0 NM_006580.4 CLDN19 95.00 0 NM_148960.3 CNNM2 95.00 0 NM_017649.5 COL4A1 95.00 0 NM_001845.6 COL4A3 95.00 0 NM_000091.5 COL4A4 95.00 0 NM_000092.5 COL4A5 95.00 0 NM_000495.5 COQ2 95.00 0 NM_015697.9 COQ6 95.00 0 NM_182476.3 COQ8B 95.00 0 NM_024876.4 CRB2 95.00 0 NM_173689.7 CTNS 95.00 0 NM_004937.3 CUBN 95.00 0 NM_001081.4 CUL3 95.00 0 NM_003590.5 CYP11B1 95.00 0 NM_000497.4 CYP11B2 95.00 0 NM_000498.3 CYP17A1 95.00 0 NM_000102.4 CYP24A1 95.00 0 NM_000782.5 DAAM2 95.00 0 NM_001201427.2 DGKE 95.00 0 NM_003647.3 DLEC1 95.00 0 NM_182643.3 DNAJB11 95.00 0 NM_016306.6 DSTYK 95.00 0 NM_015375.3 DZIP1L 95.00 0 NM_173543.3 EGF 95.00 0 NM_001963.6 EHHADH 95.00 0 NM_001966.4 EMP2 95.00 0 NM_001424.6 EYA1 95.00 0 NM_000503.6 FAM20A 95.00 0 NM_017565.4 FAN1 95.00 0 NM_014967.5 FAT1 95.00 0 NM_005245.4 FGA 95.00 0 NM_021871.4 FGF20 95.00 0 NM_019851.3 FGF23 95.00 0 NM_020638.3 FN1 95.00 0 NM_212482.4 FOXC1 95.00 0 NM_001453.3 FOXC2 95.00 0 NM_005251.3 FOXI1 95.00 0 NM_012188.5 FXYD2 95.00 0 NM_001680.5 GANAB 95.00 0 NM_198335.4 GATA3 95.00 0 NM_001002295.2 GATM 95.00 0 NM_001482.3 GDNF 95.00 0 NM_000514.4 GLA 95.00 0 NM_000169.3 GLIS2 95.00 0 NM_032575.3 GNA11 95.00 0 NM_002067.5 GREB1L 95.00 0 NM_001142966.3 GRHPR 95.00 0 NM_012203.2 GRIP1 95.00 0 NM_021150.4 GSN 95.00 0 NM_000177.5 HNF1A 95.00 0 NM_000545.8 HNF1B 95.00 0 NM_000458.4 HNF4A 95.00 0 NM_175914.5 HOGA1 95.00 0 NM_138413.4 HOXA13 95.00 0 NM_000522.5 HPRT1 95.00 0 NM_000194.3 HSD11B2 95.00 0 NM_000196.4 IFT140 95.00 0 NM_014714.4 IFT81 95.00 0 NM_014055.4 INF2 95.00 0 NM_022489.4 INVS 95.00 0 NM_014425.5 ITGA8 95.00 0 NM_003638.3 ITSN1 95.00 0 NM_003024.3 ITSN2 95.00 0 NM_147152.3 JAG1 95.00 0 NM_000214.3 KANK2 95.00 0 NM_001136191.3 KCNA1 95.00 0 NM_000217.3 KCNJ1 95.00 0 NM_000220.6 KCNJ10 95.00 0 NM_002241.5 KCNJ5 95.00 0 NM_000890.5 KIRREL1 95.00 0 NM_018240.7 KL 95.00 0 NM_004795.4 KLHL3 95.00 0 NM_017415.3 LAMB2 95.00 0 NM_002292.4 LCAT 95.00 0 NM_000229.2 LDHD 95.00 0 NM_153486.4 LHX1 95.00 0 NM_005568.5 LIFR 95.00 0 NM_002310.6 LMX1B 95.00 0 NM_002316.4 LYZ 95.00 0 NM_000239.3 MAGED2 95.00 0 NM_177433.3 MAGI2 95.00 0 NM_012301.4 MAPKBP1 95.00 0 NM_001128608.2 MMACHC 95.00 0 NM_015506.3 MOCOS 95.00 0 NM_017947.4 MTX2 95.00 0 NM_006554.5 MUC1 95.00 0 NM_002456.6 MYH9 95.00 0 NM_002473.6 MYO1E 95.00 0 NM_004998.4 NEK8 95.00 0 NM_178170.3 NOTCH2 95.00 0 NM_024408.4 NPHP1 95.00 0 NM_000272.5 NPHP3 95.00 0 NM_153240.5 NPHP4 95.00 0 NM_015102.5 NPHS1 95.00 0 NM_004646.4 NPHS2 95.00 0 NM_014625.4 NR3C1 95.00 0 NM_001018077.1 NR3C2 95.00 0 NM_000901.5 NUP107 95.00 0 NM_020401.4 NUP133 95.00 0 NM_018230.3 NUP160 95.00 0 NM_015231.3 NUP85 95.00 0 NM_024844.5 NUP93 95.00 0 NM_014669.5 OCRL 95.00 0 NM_000276.4 OFD1 95.00 0 NM_003611.3 PAX2 95.00 0 NM_003987.5 PBX1 95.00 0 NM_002585.4 PCBD1 95.00 0 NM_000281.4 PDSS2 95.00 0 NM_020381.4 PHEX 95.00 0 NM_000444.6 PKD1 95.00 0 NM_001009944.3 PKD2 95.00 0 NM_000297.4 PKHD1 95.00 0 NM_138694.4 PLCE1 95.00 0 NM_016341.4 PODXL 95.00 0 NM_005397.4 PRPS1 95.00 0 NM_002764.4 PTPRO 95.00 0 NM_030667.3 REN 95.00 0 NM_000537.4 RET 95.00 0 NM_020975.6 ROBO2 95.00 0 NM_002942.5 SALL1 95.00 0 NM_002968.3 SARS2 95.00 0 NM_017827.4 SCARB2 95.00 0 NM_005506.4 SCNN1A 95.00 0 NM_001038.6 SCNN1B 95.00 0 NM_000336.3 SCNN1G 95.00 0 NM_001039.4 SDCCAG8 95.00 0 NM_006642.5 SEC61A1 95.00 0 NM_013336.4 SGPL1 95.00 0 NM_003901.4 SIX1 95.00 0 NM_005982.4 SIX5 95.00 0 NM_175875.5 SLC12A1 95.00 0 NM_000338.3 SLC12A3 95.00 0 NM_000339.3 SLC22A12 95.00 0 NM_144585.4 SLC26A1 95.00 0 NM_213613.4 SLC2A2 95.00 0 NM_000340.2 SLC2A9 95.00 0 NM_020041.3 SLC34A1 95.00 0 NM_003052.5 SLC34A3 95.00 0 NM_080877.3 SLC3A1 95.00 0 NM_000341.4 SLC4A1 95.00 0 NM_000342.4 SLC4A4 95.00 0 NM_003759.4 SLC5A2 95.00 0 NM_003041.4 SLC7A9 95.00 0 NM_014270.5 SLIT2 95.00 0 NM_004787.4 SMARCAL1 95.00 0 NM_014140.4 TBC1D1 95.00 0 NM_015173.4 TBC1D8B 95.00 0 NM_017752.3 TBX18 95.00 0 NM_001080508.3 TNS2 95.00 0 NM_015319.2 TRAF3IP1 95.00 0 NM_015650.4 TRAP1 95.00 0 NM_016292.3 TRIM8 95.00 0 NM_030912.3 TRPC6 95.00 0 NM_004621.6 TRPM6 95.00 0 NM_017662.5 TSC1 95.00 0 NM_000368.5 TSC2 95.00 0 NM_000548.5 TTC21B 95.00 0 NM_024753.5 TTR 95.00 0 NM_000371.4 UMOD 95.00 0 NM_003361.4 VHL 95.00 0 NM_000551.4 WDR19 95.00 0 NM_025132.4 WDR72 95.00 0 NM_182758.4 WFS1 95.00 0 NM_006005.3 WNK1 95.00 0 NM_018979.4 WNK4 95.00 0 NM_032387.5 WNT4 95.00 0 NM_030761.5 WT1 95.00 0 NM_024426.6 XDH 95.00 0 NM_000379.4 XPNPEP3 95.00 0 NM_022098.4 -
Skeletal dysplasia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALPL 100.00 1 ALX3 100.00 1 ARID1A 99.99 1 B3GALT6 92.42 1 CDC73 99.98 1 COL11A1 99.99 1 COL9A2 100.00 1 CTSK 100.00 1 DDR2 100.00 1 DHCR24 100.00 1 DVL1 100.00 1 FAM20B 100.00 1 FUCA1 100.00 1 GNAI3 99.99 1 GNPAT 99.96 1 GORAB 99.99 1 HHAT 100.00 1 HS2ST1 99.93 1 HSPG2 99.99 1 IARS2 100.00 1 LBR 99.99 1 LMNA 100.00 1 NLRP3 100.00 1 NMNAT1 95.03 1 NOTCH2 100.00 1 NRAS 99.97 1 ORC1 100.00 1 P3H1 100.00 1 PHGDH 100.00 1 PIGV 100.00 1 PLOD1 100.00 1 POLR3GL 100.00 1 PRKACB 100.00 1 PRRX1 100.00 1 RBM8A 100.00 1 SDCCAG8 99.99 1 SF3B4 100.00 1 SKI 100.00 1 SLC25A24 99.30 1 SLC35D1 99.68 1 TBCE 100.00 1 TBX15 100.00 1 TGFB2 100.00 1 TMCO1 99.91 1 TMEM53 100.00 1 ZMPSTE24 99.99 1 CHST3 100.00 1 DNA2 99.99 1 FBXW4 98.98 1 FGFR2 100.00 1 KAT6B 100.00 1 KIF5B 99.93 1 PAPSS2 99.93 1 POLR3A 100.00 1 SLC29A3 100.00 1 SMC3 99.98 1 TCTN3 100.00 1 ALG9 94.06 1 ALX4 100.00 1 ANO5 100.00 1 ARCN1 100.00 1 B3GAT3 94.88 1 BANF1 100.00 1 BBS1 100.00 1 C2CD3 99.99 1 CDKN1C 100.00 1 CREB3L1 100.00 1 CYP2R1 98.84 1 DPAGT1 100.00 1 DYNC2H1 99.84 1 EED 100.00 1 EXT2 100.00 1 FAM111A 100.00 1 FAR1 99.98 1 FERMT3 100.00 1 HRAS 100.00 1 IFITM5 100.00 1 INPPL1 99.93 1 LRP4 100.00 1 LRP5 100.00 1 LTBP3 100.00 1 MMP13 99.99 1 NADSYN1 100.00 1 PIK3C2A 99.99 1 PLCB3 100.00 1 RASGRP2 100.00 1 SERPINH1 100.00 1 SLC39A13 100.00 1 TCIRG1 100.00 1 TMEM138 100.00 1 TMEM216 100.00 1 ABCC9 99.99 1 ALX1 100.00 1 ATP6V0A2 100.00 1 BBS10 100.00 1 CEP290 99.84 1 CHST11 100.00 1 COL2A1 100.00 1 CYP27B1 100.00 1 FGF23 100.00 1 GDF3 100.00 1 GNPTAB 100.00 1 GNS 100.00 1 IFT81 94.63 1 LEMD3 100.00 1 MAPKAPK5 100.00 1 MGP 100.00 1 PDE3A 100.00 1 PEX5 100.00 1 POLE 100.00 1 POLR3B 99.98 1 PTHLH 100.00 1 PTPN11 99.98 1 RFLNA 99.50 1 SP7 100.00 1 TBX3 100.00 1 TBX5 100.00 1 TCTN1 94.52 1 TCTN2 99.95 1 TRPV4 100.00 1 VDR 99.44 1 VPS33A 95.74 1 WNT1 100.00 1 WNT10B 100.00 1 FGF9 99.98 1 GPC6 100.00 1 KL 98.69 1 POLR1D 99.94 1 TGDS 99.99 1 TNFSF11 100.00 1 AKT1 100.00 1 GNPNAT1 99.99 1 GSC 100.00 1 IFT43 100.00 1 KIAA0586 95.70 1 LTBP2 100.00 1 MMP14 100.00 1 SEC23A 99.98 1 SIX1 100.00 1 SMOC1 100.00 1 SRP54 99.97 1 TGFB3 100.00 1 LYSET 100.00 1 TRIP11 99.98 1 TTC8 99.96 1 ACAN 98.67 1 ADAMTS17 98.97 1 BBS4 100.00 1 CEP152 99.99 1 CHST14 99.49 1 CHSY1 99.98 1 DLL4 100.00 1 EFL1 100.00 1 FBN1 100.00 1 FMN1 100.00 1 GREM1 100.00 1 IDH2 99.93 1 KIF7 99.98 1 LRRK1 100.00 1 MAP2K1 100.00 1 MESD 100.00 1 MESP2 100.00 1 PPIB 100.00 1 SMAD3 100.00 1 SMAD6 100.00 1 TCF12 100.00 1 ANKRD11 100.00 1 BBS2 100.00 1 CBFB 100.00 1 CDH3 100.00 1 CDK10 100.00 1 CDT1 99.07 1 CLCN7 99.78 1 COG4 100.00 1 CREBBP 100.00 1 DHODH 100.00 1 GALNS 100.00 1 GINS2 100.00 1 GNPTG 99.45 1 IFT140 100.00 1 KIF22 100.00 1 MBTPS1 100.00 1 MMP2 100.00 1 ORC6 99.99 1 PAM16 100.00 1 PRMT7 99.99 1 RPGRIP1L 98.82 1 RPL13 100.00 1 RSPRY1 100.00 1 SALL1 100.00 1 TBC1D24 100.00 1 TBX6 100.00 1 TMEM231 100.00 1 TRAF7 100.00 1 VAC14 100.00 1 XYLT1 98.81 1 ACTG1 100.00 1 BHLHA9 99.55 1 CANT1 99.97 1 CDC6 100.00 1 COG1 100.00 1 COL1A1 100.00 1 DLX3 100.00 1 EFTUD2 100.00 1 EIF4A3 99.99 1 FKBP10 100.00 1 FZD2 100.00 1 HES7 100.00 1 KCNJ2 100.00 1 KIAA0753 100.00 1 MEOX1 100.00 1 MKS1 100.00 1 MYH3 100.00 1 NAGLU 99.96 1 NF1 99.98 1 NOG 100.00 1 NXN 100.00 1 P4HB 100.00 1 PLEKHM1 100.00 1 PRKAR1A 100.00 1 PYCR1 100.00 1 SERPINF1 100.00 1 SGSH 100.00 1 SMARCE1 99.97 1 SOST 100.00 1 SOX9 100.00 1 SUZ12 99.97 1 TBX4 99.45 1 WNT3 100.00 1 XYLT2 100.00 1 DYM 99.99 1 LPIN2 99.99 1 RBBP8 99.96 1 SMAD2 100.00 1 SMAD4 100.00 1 SMCHD1 99.97 1 TNFRSF11A 97.91 1 ACP5 100.00 1 ADAMTS10 100.00 1 AKT2 100.00 1 APC2 99.99 1 B9D2 100.00 1 CCDC8 100.00 1 COMP 100.00 1 DLL3 99.85 1 DOCK6 100.00 1 EPS15L1 100.00 1 ERF 100.00 1 FUZ 100.00 1 GPX4 96.50 1 LONP1 100.00 1 MAN2B1 100.00 1 MEGF8 99.96 1 NFIX 99.97 1 PRKACA 100.00 1 SMARCA4 100.00 1 TGFB1 100.00 1 TYROBP 100.00 1 UBA2 99.97 1 ACVR1 100.00 1 AFF3 100.00 1 AGPS 99.76 1 ANAPC1 99.82 1 ARHGAP25 100.00 1 BBS5 99.97 1 CKAP2L 100.00 1 COLEC11 100.00 1 CRIPT 100.00 1 CYP26B1 100.00 1 DNMT3A 100.00 1 DYNC2LI1 100.00 1 EIF2AK3 99.96 1 EN1 100.00 1 EXOC6B 99.77 1 FN1 100.00 1 FOSL2 100.00 1 GALNT3 99.99 1 GLI2 100.00 1 HAAO 100.00 1 HDAC4 100.00 1 HOXD13 100.00 1 IDH1 100.00 1 IFIH1 99.99 1 IFT172 100.00 1 IHH 100.00 1 IL1RN 100.00 1 KYNU 99.99 1 LTBP1 100.00 1 MAP3K20 100.00 1 MATN3 99.95 1 MTX2 99.95 1 MYCN 99.97 1 NBAS 100.00 1 NPPC 100.00 1 OBSL1 99.99 1 ORC4 100.00 1 PAX3 100.00 1 PKDCC 99.76 1 POLR1A 100.00 1 POLR1B 100.00 1 SIX2 100.00 1 SMARCAL1 100.00 1 TMEM237 99.98 1 TRAF3IP1 100.00 1 TTC21B 99.97 1 WDPCP 91.91 1 WDR35 99.99 1 WNT6 100.00 1 ASXL1 100.00 1 BMP2 99.98 1 COL9A3 100.00 1 CTSA 100.00 1 DDRGK1 100.00 1 DPM1 97.07 1 ELMO2 100.00 1 GDF5 100.00 1 GNAS 100.00 1 GZF1 100.00 1 IFT52 100.00 1 LAMA5 99.87 1 MAFB 100.00 1 MKKS 99.98 1 MMP9 100.00 1 PLCB4 100.00 1 SALL4 100.00 1 SNRPB 100.00 1 CFAP410 100.00 1 DONSON 99.81 1 PCNT 100.00 1 ALG12 100.00 1 CCDC134 100.00 1 CDC45 100.00 1 EP300 100.00 1 FBLN1 99.89 1 MCM5 100.00 1 MYO18B 100.00 1 PISD 100.00 1 SMARCB1 100.00 1 SPECC1L 100.00 1 ALG3 100.00 1 ARHGAP31 100.00 1 ARL6 100.00 1 ATR 99.98 1 CASR 100.00 1 COPB2 100.00 1 CRTAP 99.90 1 DVL3 100.00 1 DYNLT2B 100.00 1 EOGT 99.99 1 FLNB 100.00 1 GLB1 100.00 1 HYAL1 100.00 1 IFT122 100.00 1 IFT80 99.94 1 LMOD3 100.00 1 MASP1 100.00 1 MECOM 100.00 1 NEPRO 99.99 1 PCYT1A 100.00 1 PIK3CA 99.97 1 PLOD2 99.95 1 POC1A 100.00 1 PTH1R 100.00 1 SETD2 99.99 1 SLCO2A1 100.00 1 SUMF1 100.00 1 TGFBR2 100.00 1 THPO 100.00 1 TOP2B 99.85 1 TP63 99.99 1 TRAIP 100.00 1 WNT5A 100.00 1 WNT7A 100.00 1 ZIC1 100.00 1 AGA 100.00 1 ANTXR2 100.00 1 BBS12 100.00 1 BBS7 99.97 1 BMPR1B 100.00 1 CC2D2A 98.21 1 CENPE 99.92 1 DMP1 100.00 1 DSPP 100.00 1 EDNRA 100.00 1 EVC 96.08 1 EVC2 100.00 1 FGFR3 100.00 1 HPGD 99.99 1 IDUA 99.84 1 INTU 100.00 1 MAB21L2 100.00 1 MANBA 99.99 1 NEK1 99.99 1 NKX3-2 100.00 1 PRKG2 99.98 1 RAB33B 100.00 1 RBPJ 100.00 1 SEC24D 100.00 1 SGMS2 100.00 1 SH3BP2 98.03 1 SLC10A7 100.00 1 TAPT1 98.76 1 TMEM165 99.97 1 UFSP2 99.99 1 WDR19 99.94 1 ANKH 100.00 1 ARSB 99.92 1 ARSK 99.98 1 B4GALT7 99.95 1 BNIP1 100.00 1 CEP120 99.96 1 CPLANE1 99.97 1 CSF1R 100.00 1 DNAJC21 100.00 1 FBN2 99.99 1 FGF10 100.00 1 HSPA9 100.00 1 IL6ST 99.99 1 KIAA0825 99.99 1 LIFR 99.94 1 MSX2 100.00 1 NIPBL 99.91 1 NPR3 100.00 1 NSD1 100.00 1 PDE4D 99.99 1 PDGFRB 100.00 1 PITX1 100.00 1 SH3PXD2B 100.00 1 SLC26A2 100.00 1 SPARC 100.00 1 SQSTM1 100.00 1 TCOF1 100.00 1 XRCC4 100.00 1 ZSWIM6 97.48 1 ARID1B 99.51 1 CCN6 100.00 1 CILK1 99.92 1 COL10A1 100.00 1 COL11A2 100.00 1 COL9A1 99.99 1 CUL7 100.00 1 DSE 99.66 1 EDN1 100.00 1 ENPP1 99.27 1 FIG4 100.00 1 FOXC1 99.89 1 GCM2 100.00 1 GJA1 100.00 1 GMNN 99.99 1 ID4 97.95 1 MAP3K7 100.00 1 MCM3 100.00 1 NEU1 100.00 1 OSTM1 99.96 1 PEX7 100.00 1 PGM3 100.00 1 POLR1C 97.57 1 RAB23 100.00 1 RIPPLY2 99.85 1 RUNX2 100.00 1 SCUBE3 100.00 1 SLC17A5 99.99 1 SLC35B2 100.00 1 TAB2 100.00 1 TENT5A 100.00 1 TFAP2B 100.00 1 TREM2 100.00 1 ACTB 100.00 1 BBS9 99.96 1 BMPER 100.00 1 COL1A2 100.00 1 CYP3A4 99.94 1 DLX5 100.00 1 DLX6 100.00 1 DYNC2I1 96.68 1 EZH2 99.98 1 FAM20C 99.99 1 FKBP14 99.95 1 GLI3 100.00 1 GUSB 100.00 1 HOXA11 100.00 1 HOXA13 96.84 1 KDELR2 100.00 1 LFNG 94.20 1 LMBR1 99.96 1 MCM7 100.00 1 MET 100.00 1 MNX1 87.84 1 POR 100.00 1 RINT1 99.95 1 SBDS 100.00 1 SFRP4 100.00 1 SHH 100.00 1 SLC4A2 100.00 1 SMO 99.99 1 SNX10 99.97 1 TBXAS1 99.99 1 TRPV6 99.41 1 TWIST1 100.00 1 ASAH1 99.99 1 BMP1 100.00 1 BPNT2 100.00 1 CA2 100.00 1 COLEC10 100.00 1 CSGALNACT1 100.00 1 CSPP1 99.99 1 ESCO2 99.74 1 EXT1 100.00 1 EXTL3 100.00 1 FGFR1 100.00 1 GDF6 99.99 1 HGSNAT 96.79 1 NSMCE2 100.00 1 POP1 100.00 1 PTDSS1 100.00 1 RAD21 100.00 1 RECQL4 99.80 1 RSPO2 100.00 1 SLCO5A1 100.00 1 SULF1 100.00 1 TMEM67 99.30 1 TNFRSF11B 100.00 1 TONSL 100.00 1 TRPS1 100.00 1 ABL1 100.00 1 ADAMTSL2 100.00 1 COL27A1 100.00 1 RIGI 99.97 1 DYNC2I2 100.00 1 HNRNPK 100.00 1 IL11RA 100.00 1 LMX1B 100.00 1 MTAP 100.00 1 NANS 100.00 1 NOTCH1 100.00 1 NPR2 100.00 1 ROR2 99.98 1 SLC34A3 100.00 1 TGFBR1 100.00 1 TMEM38B 100.00 1 TRIM32 100.00 1 VCP 100.00 1 ZNF462 100.00 1 AIFM1 100.00 1 AMER1 100.00 1 ARSL 100.00 1 ATP7A 100.00 1 BGN 100.00 1 CCNQ 99.81 1 CLCN5 100.00 1 EBP 100.00 1 EFNB1 100.00 1 FANCB 100.00 1 FGD1 100.00 1 FGF16 100.00 1 FLNA 100.00 1 GPC3 100.00 1 GPC4 100.00 1 HDAC8 100.00 1 IDS 100.00 1 IKBKG 100.00 1 MBTPS2 100.00 1 MID1 100.00 1 NSDHL 100.00 1 OFD1 100.00 1 PHEX 99.99 1 PLS3 100.00 1 PORCN 100.00 1 SHOX 94.83 1 SMC1A 100.00 1 SMS 100.00 1 TRAPPC2 100.00 1 ZIC3 100.00 1 -
Skeletal dysplasia - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 99.92 1 ABL1 100.00 1 ACAN 91.51 1 ACP5 100.00 1 ACVR1 99.94 1 ADAMTS10 99.99 1 ADAMTS17 99.99 1 ADAMTSL2 99.99 1 AFF4 99.94 1 AGA 99.92 1 AGPS 98.83 1 AHDC1 100.00 1 AKT1 100.00 1 ALG12 100.00 1 ALG3 99.96 1 ALG9 99.73 1 ALPL 99.88 1 ALX1 97.99 1 ALX3 99.74 1 ALX4 100.00 1 AMER1 100.00 1 ANAPC1 75.83 1 ANKH 99.95 1 ANKRD11 99.85 1 ANO5 99.85 1 ANTXR2 99.67 1 ARHGAP31 100.00 1 ARID1A 99.83 1 ARID1B 99.69 1 SLURP1 99.99 1 ARSL 99.93 1 ASXL1 100.00 1 ASXL2 99.82 1 ATP6V0A2 99.92 1 B3GALT6 100.00 1 B3GAT3 87.74 1 B3GLCT 99.90 1 B4GALT7 99.99 1 B9D1 99.80 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BHLHA9 100.00 1 BMP1 99.94 1 BMP2 99.79 1 BMPER 99.94 1 BMPR1B 99.61 1 BPNT2 100.00 1 C2CD3 99.88 1 CA2 99.62 1 CANT1 100.00 1 CASR 99.99 1 CC2D2A 99.95 1 CCDC134 100.00 1 CCDC8 100.00 1 CCN6 99.89 1 CCNQ 99.98 1 CD96 99.91 1 CDC45 99.77 1 CDC6 99.85 1 CDH3 99.98 1 CDKN1C 100.00 1 CDT1 100.00 1 CEP120 99.90 1 CEP290 98.10 1 CFAP410 100.00 1 CHD7 99.99 1 CHST14 100.00 1 CHST3 100.00 1 CHSY1 99.99 1 CILK1 99.69 1 CKAP2L 99.54 1 CLCN5 99.67 1 CLCN7 99.99 1 COG1 100.00 1 COG4 99.96 1 COL10A1 100.00 1 COL11A1 90.72 1 COL11A2 99.99 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COL9A1 99.91 1 COL9A2 98.76 1 COL9A3 99.99 1 COLEC11 100.00 1 COMP 100.00 1 CPLANE1 99.81 1 CREB3L1 99.88 1 CREBBP 99.97 1 CRTAP 99.98 1 CSF1R 99.92 1 CSGALNACT1 100.00 1 CSPP1 98.31 1 CTSA 99.98 1 CTSC 99.97 1 CTSK 99.31 1 CUL7 100.00 1 CYP27B1 99.98 1 CYP2R1 99.96 1 DCC 99.96 1 DDR2 99.58 1 RIGI 99.84 1 DDX59 99.67 1 DHCR24 99.93 1 DHCR7 99.97 1 DHODH 99.99 1 DIP2C 100.00 1 DLL3 100.00 1 DLL4 100.00 1 DLX3 99.98 1 DLX5 99.98 1 DLX6 99.82 1 DMP1 99.99 1 DNMT3A 100.00 1 DOCK6 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DSPP 99.99 1 DVL1 100.00 1 DVL3 99.99 1 DYM 99.96 1 DYNC2H1 99.66 1 DYNC2I1 99.99 1 DYNC2I2 99.98 1 DYNC2LI1 99.94 1 DYNLT2B 100.00 1 GLB1 100.00 1 EDNRA 99.97 1 EFNA4 99.92 1 EFNB1 99.95 1 EFTUD2 99.93 1 EIF2AK3 97.43 1 EIF4A3 99.99 1 ENPP1 99.88 1 EOGT 99.09 1 EP300 99.97 1 ERCC4 99.92 1 ERF 99.98 1 ESCO2 99.92 1 EVC 99.95 1 EVC2 99.97 1 EXT1 99.94 1 EXT2 99.98 1 EXTL3 99.99 1 EZH2 99.89 1 FAM111A 100.00 1 FAM20C 100.00 1 FBLN1 98.69 1 FBN1 99.85 1 FBN2 99.90 1 FBXW4 99.31 1 FERMT3 99.99 1 FGF10 99.95 1 FGF16 99.60 1 FGF23 100.00 1 FGF3 99.97 1 FGF4 100.00 1 FGF8 100.00 1 FGF9 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FIG4 99.83 1 FKBP10 99.98 1 FLNA 99.99 1 FLNB 99.98 1 FMN1 99.98 1 FREM1 99.98 1 FUCA1 98.72 1 FZD2 99.98 1 GALNS 99.98 1 GALNT3 99.52 1 GDF3 100.00 1 GDF5 100.00 1 GDF6 100.00 1 GFER 100.00 1 GJA1 100.00 1 GLI3 100.00 1 GNAS 100.00 1 GNPAT 99.78 1 GNPNAT1 99.99 1 GNPTAB 99.76 1 GNPTG 100.00 1 GNS 99.59 1 GORAB 99.59 1 GPC6 99.98 1 GPX4 100.00 1 GREM1 100.00 1 GUSB 95.07 1 GZF1 100.00 1 HDAC4 99.98 1 HDAC8 99.74 1 HES7 100.00 1 HGSNAT 99.93 1 HNRNPK 99.93 1 HOXA11 99.99 1 HOXA13 99.94 1 HOXD13 99.98 1 HPGD 99.98 1 HS2ST1 95.79 1 HSPG2 99.87 1 IDH1 99.91 1 IDH2 100.00 1 IDS 99.82 1 IDUA 99.99 1 IFIH1 99.84 1 IFITM5 100.00 1 IFT122 99.98 1 IFT140 100.00 1 IFT172 99.98 1 IFT43 99.97 1 IFT52 99.82 1 IFT80 99.69 1 IFT81 94.64 1 IHH 100.00 1 IKBKG 57.34 1 IL11RA 99.98 1 IL1RN 99.64 1 INPPL1 99.97 1 KAT6B 99.79 1 KDELR2 99.98 1 KIAA0753 100.00 1 KIAA1217 99.99 1 KIF22 99.89 1 KIF7 100.00 1 KMT2D 99.98 1 LBR 99.66 1 LEMD3 99.07 1 LFNG 100.00 1 LIFR 99.69 1 LMBR1 99.88 1 LMNA 99.96 1 LMX1B 100.00 1 LONP1 99.99 1 LPIN2 100.00 1 CORIN 99.89 1 LRP5 99.95 1 LTBP2 99.97 1 MAFB 100.00 1 MAN2B1 99.99 1 MAN2C1 99.96 1 MAP3K7 99.33 1 MASP1 99.99 1 MATN3 99.97 1 MBTPS2 99.81 1 MEGF8 99.90 1 MEOX1 99.99 1 MESP2 99.99 1 MGP 99.95 1 MIA2 99.72 1 MIA3 99.84 1 MKKS 100.00 1 MKS1 99.92 1 MMP13 99.96 1 MMP2 99.96 1 MMP9 100.00 1 MNX1 99.83 1 MPDU1 99.97 1 MSX2 100.00 1 MTX2 99.20 1 MYCN 100.00 1 MYL11 99.85 1 NAGLU 100.00 1 NANS 100.00 1 NBAS 99.86 1 NEK1 99.83 1 NEU1 99.98 1 NF1 99.88 1 NFIX 99.99 1 NIPBL 99.34 1 NKX3-2 99.99 1 NLRP3 100.00 1 NOG 100.00 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NPPC 100.00 1 NPRL2 99.99 1 NSD1 99.98 1 NSDHL 99.87 1 NXN 99.92 1 OBSL1 100.00 1 OFD1 99.68 1 SLC25A15 99.70 1 ORC4 99.70 1 ORC6 99.82 1 OSTM1 99.56 1 P3H1 99.89 1 P4HB 99.99 1 PAM16 100.00 1 PAN2 99.95 1 PAPSS2 99.91 1 PAX3 100.00 1 PCNT 99.97 1 PCYT1A 100.00 1 PDE3A 99.97 1 PDE4D 99.89 1 PEX5 99.89 1 PEX7 99.72 1 PGM3 99.94 1 PHEX 99.83 1 PHGDH 99.79 1 PIGT 99.95 1 PIGV 100.00 1 PIK3C2A 99.92 1 PIK3CA 99.74 1 PISD 100.00 1 PITX1 100.00 1 PLEKHM1 99.77 1 PLOD2 99.66 1 PLS3 99.75 1 POC1A 99.98 1 POLR1A 99.93 1 POLR1C 100.00 1 POLR1D 100.00 1 BVES 99.94 1 PORCN 99.98 1 PPIB 100.00 1 PRKAR1A 100.00 1 PRKG2 99.75 1 PRMT7 99.95 1 PSAT1 99.98 1 PSPH 99.09 1 PTDSS1 99.95 1 PTH1R 99.93 1 PTHLH 99.89 1 PTPN11 99.98 1 PUF60 100.00 1 PYCR1 99.99 1 RAB23 99.97 1 RAB33B 100.00 1 RAD21 99.91 1 RASGRP2 100.00 1 RBM8A 99.37 1 RBPJ 99.96 1 RECQL4 100.00 1 RFT1 99.79 1 RIN1 100.00 1 RNU4ATAC 99.95 1 ROR2 99.99 1 RPGRIP1L 96.35 1 RPL13 99.96 1 RUNX2 100.00 1 SALL1 100.00 1 SALL4 100.00 1 SBDS 99.93 1 SCARF2 99.94 1 SCUBE3 99.96 1 SEC24D 99.94 1 SERPINF1 100.00 1 SERPINH1 100.00 1 SETD2 99.91 1 SF3B4 99.65 1 SFRP4 99.99 1 SGSH 100.00 1 SH3BP2 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOX 92.70 1 HHAT 99.98 1 SLC10A7 99.95 1 SLC17A5 99.71 1 SLC26A2 100.00 1 SLC29A3 99.98 1 SLC34A1 99.99 1 SLC34A3 100.00 1 SLC35C1 100.00 1 SLC35D1 87.50 1 SLC39A13 99.98 1 SLCO2A1 99.99 1 SLCO5A1 99.98 1 SMAD3 99.99 1 SMAD4 99.97 1 SMARCAL1 99.97 1 SMC1A 99.98 1 SMC3 99.91 1 SMO 99.99 1 SMOC1 100.00 1 SNRPB 99.96 1 SNX10 99.96 1 SOST 100.00 1 SOX9 100.00 1 SP7 100.00 1 SPARC 99.94 1 SUCO 98.05 1 SULF1 99.99 1 SUMF1 99.95 1 TALDO1 100.00 1 TAPT1 99.64 1 TBCE 99.91 1 TBX15 99.81 1 TBX3 100.00 1 TBX4 99.96 1 TBX5 99.98 1 TBX6 99.99 1 TBXAS1 100.00 1 TCF12 99.97 1 TCIRG1 99.99 1 TCOF1 99.99 1 TCTN2 99.99 1 TCTN3 99.92 1 TENT5A 99.97 1 TERT 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THPO 100.00 1 TMEM165 99.97 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM38B 99.95 1 TMEM67 99.69 1 TNFRSF11A 100.00 1 TNFRSF11B 100.00 1 TNFSF11 99.89 1 TONSL 100.00 1 TP63 99.97 1 TRAPPC2 99.41 1 TREM2 100.00 1 TRIP11 99.90 1 TRPS1 100.00 1 TRPV4 100.00 1 TRPV6 99.99 1 TTC21B 99.50 1 TTC8 99.67 1 TWIST1 100.00 1 TYROBP 99.95 1 VDR 99.86 1 VPS35L 99.07 1 WDPCP 99.87 1 WDR19 99.80 1 WDR35 99.92 1 WNT1 99.97 1 WNT10B 99.97 1 WNT3 99.99 1 WNT3A 100.00 1 WNT5A 100.00 1 WNT7A 99.99 1 XRCC4 99.89 1 XYLT1 99.98 1 XYLT2 99.97 1 ZMPSTE24 98.70 1 ZSWIM6 98.94 1