Belgian Genetic Tests database- Analytes
- KL
KL
| Name: |
klotho
|
| Symbol: |
KL
|
| Version of Orphanet: |
2022-05-01 04:55:23
|
| Synonyms: |
KLA
alpha-klotho
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
01 May 2022 - 06:55
|
-
Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 No comment AAGAB 97.88 0 No comment ABCA12 100.00 0 No comment ABCB6 100.00 0 No comment ABCC6 99.97 0 No comment ABHD5 100.00 0 No comment ACD 100.00 0 No comment ADAM10 100.00 0 No comment ADAMTS2 95.82 0 No comment ADAR 100.00 0 No comment AIM1 100.00 0 No comment AKT1 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALOX12B 100.00 0 No comment ALOXE3 100.00 0 No comment ANTXR1 100.00 0 No comment AP1S1 100.00 0 No comment AP3B1 100.00 0 No comment APCDD1 99.97 0 No comment AQP5 99.87 0 No comment ARHGAP31 100.00 0 No comment ARSL 99.95 0 No comment ASAH1 100.00 0 No comment ATM 100.00 0 No comment ATP2A2 100.00 0 No comment ATP2C1 100.00 0 No comment ATP6V0A2 99.98 0 No comment ATP6V1A 100.00 0 No comment ATP6V1E1 99.99 0 No comment ATP7A 100.00 0 No comment AXIN2 100.00 0 No comment B3GALT6 63.11 0 No comment B4GALT7 90.91 0 No comment BANF1 97.55 0 No comment BCS1L 100.00 0 No comment BLM 100.00 0 No comment BLOC1S3 95.69 0 No comment BLOC1S6 100.00 0 No comment BRAF 96.86 0 No comment LRMDA 100.00 0 No comment KDF1 100.00 0 No comment CARD14 99.96 0 No comment CBL 100.00 0 No comment CBS 99.92 0 No comment CD151 99.99 0 No comment CDH3 100.00 0 No comment CDK4 100.00 0 No comment CDKN1B 100.00 0 No comment CDKN2A 99.69 0 No comment CDSN 99.93 0 No comment CERS3 100.00 0 No comment CHST14 99.81 0 No comment CHST8 100.00 0 No comment CHUK 99.59 0 No comment CLCF1 100.00 0 No comment CLDN1 100.00 0 No comment CLDN10 100.00 0 No comment COG6 100.00 0 No comment COL11A1 100.00 0 No comment COL12A1 100.00 0 No comment COL17A1 100.00 0 No comment COL1A1 100.00 0 No comment COL1A2 99.41 0 No comment COL3A1 99.99 0 No comment COL5A1 98.23 0 No comment COL5A2 100.00 0 No comment COL7A1 100.00 0 No comment CREBBP 99.98 0 No comment CRLF1 89.67 0 No comment CSTA 100.00 0 No comment CTC1 99.71 0 No comment CTSC 100.00 0 No comment CYLD 100.00 0 No comment CYP26C1 97.30 0 No comment CYP4F22 99.27 0 No comment DDB2 100.00 0 No comment DIP2B 99.71 0 No comment DKC1 99.92 0 No comment DLL4 100.00 0 No comment DLX3 99.95 0 No comment DNMT1 99.69 0 No comment DOCK6 99.13 0 No comment DOLK 100.00 0 No comment DSC3 98.96 0 No comment DSE 100.00 0 No comment DSG1 100.00 0 No comment DSG2 99.89 0 No comment DSG4 100.00 0 No comment DSP 100.00 0 No comment DST 100.00 0 No comment DTNBP1 99.96 0 No comment GLB1 100.00 0 No comment ECM1 100.00 0 No comment EDA 99.05 0 No comment EDAR 100.00 0 No comment EDARADD 100.00 0 No comment EDN3 99.95 0 No comment EDNRB 100.00 0 No comment EFEMP2 100.00 0 No comment ELN 99.96 0 No comment ELOVL4 100.00 0 No comment ENPP1 97.25 0 No comment EOGT 100.00 0 No comment EP300 100.00 0 No comment EPG5 99.99 0 No comment ERCC2 99.35 0 No comment ERCC3 100.00 0 No comment ERCC4 99.99 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERCC8 100.00 0 No comment EVC 94.53 0 No comment EVC2 98.69 0 No comment EXPH5 100.00 0 No comment F12 99.81 0 No comment FAM111B 100.00 0 No comment RETREG1 93.87 0 No comment FAM83G 100.00 0 No comment FBLN5 100.00 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FERMT1 99.96 0 No comment FGFR2 100.00 0 No comment FGFR3 99.36 0 No comment FH 100.00 0 No comment FKBP14 100.00 0 No comment FLCN 100.00 0 No comment FGFR1 100.00 0 No comment FLG2 100.00 0 No comment FOXN1 100.00 0 No comment FZD6 100.00 0 No comment GALNT3 100.00 0 No comment GAN 98.95 0 No comment GBA 100.00 0 No comment GGCX 99.91 0 No comment GHR 99.21 0 No comment GJA1 100.00 0 No comment GJB2 100.00 0 No comment GJB3 100.00 0 No comment GJB4 100.00 0 No comment GJB6 100.00 0 No comment GLA 100.00 0 No comment GNAS 100.00 0 No comment GORAB 100.00 0 No comment GPR143 89.17 0 No comment GRHL2 100.00 0 No comment GSN 97.95 0 No comment GTF2E2 100.00 0 No comment GTF2H5 100.00 0 No comment HAMP 100.00 0 No comment HCCS 100.00 0 No comment HDAC8 99.82 0 No comment HFE 100.00 0 No comment HJV 100.00 0 No comment HGD 100.00 0 No comment HLCS 100.00 0 No comment HOXC13 96.56 0 No comment HPGD 99.87 0 No comment HPS1 100.00 0 No comment HPS3 99.99 0 No comment HPS4 99.99 0 No comment HPS5 100.00 0 No comment HPS6 96.32 0 No comment HR 99.78 0 No comment HRAS 100.00 0 No comment IFT122 99.99 0 No comment IFT43 100.00 0 No comment ELP1 100.00 0 No comment IKBKG 96.27 0 No comment IL31RA 100.00 0 No comment INSR 96.81 0 No comment ITGA3 99.99 0 No comment ITGA6 100.00 0 No comment ITGB4 98.77 0 No comment JUP 100.00 0 No comment KANK2 99.99 0 No comment KCNH1 100.00 0 No comment KCTD1 100.00 0 No comment KDM6A 99.63 0 No comment KDSR 99.98 0 No comment KIF1A 99.07 0 No comment KIT 99.98 0 No comment KITLG 100.00 0 No comment KL 96.52 0 No comment KLHL24 100.00 0 No comment KLLN 100.00 0 No comment KMT2D 99.99 0 No comment KRAS 100.00 0 No comment KREMEN1 92.10 0 No comment KRT1 99.80 0 No comment KRT10 99.93 0 No comment KRT14 100.00 0 No comment KRT16 99.48 0 No comment KRT17 92.10 0 No comment KRT2 100.00 0 No comment KRT5 100.00 0 No comment KRT6A 100.00 0 No comment KRT6B 100.00 0 No comment KRT6C 99.44 0 No comment KRT71 99.95 0 No comment KRT74 99.99 0 No comment KRT81 100.00 0 No comment KRT83 99.99 0 No comment KRT85 99.27 0 No comment KRT86 99.98 0 No comment KRT9 100.00 0 No comment LAMA4 99.75 0 No comment LAMB3 100.00 0 No comment LAMC2 99.43 0 No comment LEMD3 99.97 0 No comment LIPH 100.00 0 No comment LIPN 100.00 0 No comment LMNA 99.52 0 No comment LMX1B 99.55 0 No comment LORICRIN 100.00 0 No comment LPAR6 100.00 0 No comment LRP1 100.00 0 No comment LTBP4 99.49 0 No comment LYST 100.00 0 No comment LZTR1 99.92 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.99 0 No comment MAPRE2 100.00 0 No comment MBTPS2 100.00 0 No comment MC1R 100.00 0 No comment MEN1 99.83 0 No comment MITF 100.00 0 No comment MLH1 99.99 0 No comment MLPH 100.00 0 No comment MMP1 99.99 0 No comment MMP2 99.93 0 No comment MPDU1 100.00 0 No comment MPLKIP 100.00 0 No comment MSH2 100.00 0 No comment MSH6 99.92 0 No comment MSMO1 100.00 0 No comment MSX1 99.53 0 No comment MUTYH 100.00 0 No comment MYO5A 99.78 0 No comment NF1 98.85 0 No comment NF2 99.97 0 No comment NFKBIA 99.97 0 No comment NGF 100.00 0 No comment NHP2 100.00 0 No comment NIPAL4 100.00 0 No comment NIPBL 99.62 0 No comment RMRP 100.00 0 No comment NOP10 100.00 0 No comment NOTCH1 98.81 0 No comment NRAS 100.00 0 No comment NSDHL 100.00 0 No comment NTRK1 98.91 0 No comment OCA2 99.73 0 No comment OFD1 97.68 0 No comment ORAI1 93.55 0 No comment OSMR 100.00 0 No comment PADI3 100.00 0 No comment PARN 100.00 0 No comment PAX3 100.00 0 No comment PDGFRB 100.00 0 No comment PEX7 96.12 0 No comment PHYH 99.87 0 No comment PIGL 100.00 0 No comment PIK3CA 100.00 0 No comment PKP1 100.00 0 No comment PLCD1 99.74 0 No comment PLEC 99.33 0 No comment PLOD1 98.77 0 No comment PLOD3 99.97 0 No comment PMS2 98.83 0 No comment PNPLA1 99.66 0 No comment POFUT1 99.99 0 No comment POGLUT1 100.00 0 No comment POLD1 99.84 0 No comment POLH 100.00 0 No comment NT5C3A 100.00 0 No comment PORCN 99.13 0 No comment PPP1CB 100.00 0 No comment PRDM12 83.27 0 No comment PRDM5 100.00 0 No comment PRKAR1A 100.00 0 No comment PRKD1 97.12 0 No comment PSAT1 99.73 0 No comment PSENEN 100.00 0 No comment PTCH1 99.03 0 No comment PTCH2 100.00 0 No comment PTDSS1 100.00 0 No comment PTEN 99.64 0 No comment PTPN11 94.81 0 No comment NECTIN1 99.68 0 No comment NECTIN4 99.41 0 No comment PYCR1 100.00 0 No comment RAB27A 100.00 0 No comment RAD21 100.00 0 No comment RAF1 100.00 0 No comment RASA2 99.74 0 No comment RBPJ 99.69 0 No comment RECQL4 96.90 0 No comment RET 96.88 0 No comment RHBDF2 100.00 0 No comment RIN2 100.00 0 No comment RIPK4 99.98 0 No comment RIT1 100.00 0 No comment RNF113A 100.00 0 No comment RPL21 84.30 0 No comment RRAS 98.63 0 No comment RSPO1 100.00 0 No comment RTEL1 100.00 0 No comment SASH1 99.88 0 No comment SCN11A 99.99 0 No comment SCN9A 99.99 0 No comment SDHB 99.35 0 No comment SDHD 99.95 0 No comment SEC23B 100.00 0 No comment SERPINB7 100.00 0 No comment SERPINB8 100.00 0 No comment SERPING1 97.68 0 No comment SETBP1 100.00 0 No comment SGPL1 100.00 0 No comment SHOC2 100.00 0 No comment HHAT 93.18 0 No comment SKIV2L 100.00 0 No comment SLC24A5 100.00 0 No comment SLC27A4 99.97 0 No comment SLC29A3 95.73 0 No comment SLC2A10 97.06 0 No comment SLC39A13 100.00 0 No comment SLC39A4 100.00 0 No comment SLC45A2 100.00 0 No comment SLC6A19 99.99 0 No comment SLURP1 100.00 0 No comment SMAD3 100.00 0 No comment SMARCAD1 99.97 0 No comment SMARCB1 100.00 0 No comment SMC3 100.00 0 No comment SMPD1 100.00 0 No comment SNAI2 100.00 0 No comment SNAP29 100.00 0 No comment SNRPE 99.04 0 No comment SOS1 100.00 0 No comment SOS2 99.97 0 No comment SOX10 97.31 0 No comment SPINK5 100.00 0 No comment SPRED1 100.00 0 No comment SPRY1 100.00 0 No comment SPTLC1 99.44 0 No comment SRD5A3 98.97 0 No comment ST14 99.95 0 No comment STK11 99.81 0 No comment STS 99.94 0 No comment SUFU 100.00 0 No comment SULT2B1 100.00 0 No comment SUMF1 100.00 0 No comment TAT 100.00 0 No comment TCHH 100.00 0 No comment TERT 93.51 0 No comment TFR2 100.00 0 No comment TGFB2 99.97 0 No comment TGFB3 100.00 0 No comment TGFBR1 91.97 0 No comment TGFBR2 100.00 0 No comment TGM1 100.00 0 No comment TGM3 100.00 0 No comment TGM5 100.00 0 No comment TINF2 99.96 0 No comment TMC6 99.87 0 No comment TNXB 100.00 0 No comment TP63 100.00 0 No comment TRPS1 100.00 0 No comment TRPV3 99.99 0 No comment TSC1 100.00 0 No comment TSC2 99.99 0 No comment TTC37 99.99 0 No comment TUBB 100.00 0 No comment TWIST2 99.15 0 No comment TYR 100.00 0 No comment TYRP1 100.00 0 No comment UBR1 100.00 0 No comment USB1 100.00 0 No comment UVSSA 100.00 0 No comment VPS33B 100.00 0 No comment WDR19 100.00 0 No comment WDR35 100.00 0 No comment WNK1 100.00 0 No comment WNT10A 94.15 0 No comment WRAP53 100.00 0 No comment WRN 100.00 0 No comment XPA 97.89 0 No comment XPC 100.00 0 No comment ZMPSTE24 100.00 0 No comment ZNF469 99.97 0 No comment ZNF750 100.00 0 No comment TERC 100.00 0 No comment -
Nephropathies, hereditary (218 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 95.00 0 NM_000789.3/ interpretable range CS1>95% ACTA2 95.00 0 NM_001613.3/ interpretable range CS1>95% ACTG2 95.00 0 NM_001615.3/ interpretable range CS1>95% ACTN4 95.00 0 NM_004924.5/ interpretable range CS1>95% AGXT 95.00 0 NM_000030.2/ interpretable range CS1>95% AGTR1 95.00 0 NM_031850.3/ interpretable range CS1>95% ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95% ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95% ABCD1 95.00 0 NM_030943.3/ interpretable range CS1>95% ANKS6 95.00 0 NM_173551.4/ interpretable range CS1>95% ANLN 95.00 0 NM_018685.4/ interpretable range CS1>95% ANOS1 95.00 0 NM_000216.3/ interpretable range CS1>95% AP2S1 95.00 0 NM_004069.4/ interpretable range CS1>95% APOA1 95.00 0 NM_000039.2/ interpretable range CS1>95% APOA2 95.00 0 NM_001643.1/ interpretable range CS1>95% APOC2 95.00 0 NM_000483.4/ interpretable range CS1>95% APOE 95.00 0 NM_000041.3/ interpretable range CS1>95% APRT 95.00 0 NM_000485.2/ interpretable range CS1>95% AQP2 95.00 0 NM_000486.5/ interpretable range CS1>95% ARHGDIA 95.00 0 NM_001185077.2/ interpretable range CS1>95% ATP6V0A4 95.00 0 NM_020632.2/ interpretable range CS1>95% ATP6V1B1 95.00 0 NM_001692.3/ interpretable range CS1>95% NLRP3 95.00 0 NM_000490.4/ interpretable range CS1>95% AVPR2 95.00 0 NM_000054.4/ interpretable range CS1>95% BMP4 95.00 0 NM_001202.5/ interpretable range CS1>95% BNC2 95.00 0 NM_017637.5/ interpretable range CS1>95% BSND 95.00 0 NM_057176.2/ interpretable range CS1>95% C3 95.00 0 NM_000064.3/ interpretable range CS1>95% CA2 95.00 0 NM_000067.2/ interpretable range CS1>95% CACNA1H 95.00 0 NM_021098.2/ interpretable range CS1>95% CASR 95.00 0 NM_000388.3/ interpretable range CS1>95% CD2AP 95.00 0 NM_012120.2/ interpretable range CS1>95% CD46 95.00 0 NM_002389.4/ interpretable range CS1>95% CDC73 95.00 0 NM_024529.4/ interpretable range CS1>95% CDK20 95.00 0 NM_001039803.2/ interpretable range CS1>95% CEP83 95.00 0 NM_016122.2/ interpretable range CS1>95% CFB 95.00 0 NM_001710.5/ 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% CFHR3 95.00 0 NM_021023.5/ 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% CHRM3 95.00 0 NM_000740.3/ interpretable range CS1>95% CHRNA3 95.00 0 NM_000743.4/ interpretable range CS1>95% CLCN2 95.00 0 NM_004366.5/ interpretable range CS1>95% CLCN5 95.00 0 NM_000084.4/ interpretable range CS1>95% CLCNKA 95.00 0 NM_004070.3/ interpretable range CS1>95% CLCNKB 95.00 0 NM_000085.4/ interpretable range CS1>95% CLDN10 95.00 0 NM_006984.4/ interpretable range CS1>95% CLDN16 95.00 0 NM_006580.3/ interpretable range CS1>95% CLDN19 95.00 0 NM_148960.2/ interpretable range CS1>95% CNNM2 95.00 0 NM_017649.4/ interpretable range CS1>95% COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95% COL4A3 95.00 0 NM_000091.4/ interpretable range CS1>95% COL4A4 95.00 0 NM_000092.4/ interpretable range CS1>95% COL4A5 95.00 0 NM_000495.4/ interpretable range CS1>95% COQ2 95.00 0 NM_015697.8/ interpretable range CS1>95% COQ6 95.00 0 NM_182476.2/ interpretable range CS1>95% COQ8B 95.00 0 NM_024876.3/ interpretable range CS1>95% CRB2 95.00 0 NM_173689.6/ interpretable range CS1>95% CTNS 95.00 0 NM_004937.2/ interpretable range CS1>95% CUBN 95.00 0 NM_001081.3/ interpretable range CS1>95% CUL3 95.00 0 NM_003590.4/ interpretable range CS1>95% CYP11B1 95.00 0 NM_000497.3/ interpretable range CS1>95% CYP11B2 95.00 0 NM_000498.3/ interpretable range CS1>95% CYP17A1 95.00 0 NM_000102.3/ interpretable range CS1>95% CYP24A1 95.00 0 NM_000782.4/ interpretable range CS1>95% DGKE 95.00 0 NM_003647.2/ interpretable range CS1>95% DLEC1 95.00 0 NM_182643.2/ interpretable range CS1>95% DNAJB11 95.00 0 NM_016306.5/ interpretable range CS1>95% DSTYK 95.00 0 NM_015375.2/ interpretable range CS1>95% DZIP1L 95.00 0 NM_173543.2/ interpretable range CS1>95% EGF 95.00 0 NM_001963.5/ interpretable range CS1>95% EHHADH 95.00 0 NM_001966.3/ interpretable range CS1>95% EMP2 95.00 0 NM_001424.5/ interpretable range CS1>95% EYA1 95.00 0 NM_000503.5/ interpretable range CS1>95% FAM20A 95.00 0 NM_017565.3/ interpretable range CS1>95% FAN1 95.00 0 NM_014967.4/ interpretable range CS1>95% FAT1 95.00 0 NM_005245.3/ interpretable range CS1>95% FGA 95.00 0 NM_021871.3/ interpretable range CS1>95% FGF20 95.00 0 NM_019851.2/ interpretable range CS1>95% FGF23 95.00 0 NM_020638.2/ interpretable range CS1>95% FN1 95.00 0 NM_212482.2/ interpretable range CS1>95% FOXC1 95.00 0 NM_001453.2/ interpretable range CS1>95% FOXC2 95.00 0 NM_005251.2/ interpretable range CS1>95% FOXI1 95.00 0 NM_012188.4/ interpretable range CS1>95% FRAS1 95.00 0 NM_025074.6/ interpretable range CS1>95% FREM1 95.00 0 NM_144966.5/ interpretable range CS1>95% FREM2 95.00 0 NM_207361.5/ interpretable range CS1>95% FXYD2 95.00 0 NM_001680.4/ interpretable range CS1>95% GANAB 95.00 0 NM_198335.3/ interpretable range CS1>95% GATA3 95.00 0 NM_001002295.1/ interpretable range CS1>95% GATM 95.00 0 NM_001482.2/ interpretable range CS1>95% GDNF 95.00 0 NM_000514.3/ interpretable range CS1>95% GLA 95.00 0 NM_000169.2/ interpretable range CS1>95% GLIS2 95.00 0 NM_032575.2/ interpretable range CS1>95% GNA11 95.00 0 NM_002067.4/ interpretable range CS1>95% GREB1L 95.00 0 NM_001142966.2/ interpretable range CS1>95% GRHPR 95.00 0 NM_012203.1/ interpretable range CS1>95% GRIP1 95.00 0 NM_021150.3/ interpretable range CS1>95% GSN 95.00 0 NM_000177.4/ interpretable range CS1>95% HNF1A 95.00 0 NM_000545.6/ interpretable range CS1>95% HNF1B 95.00 0 NM_000458.3/ interpretable range CS1>95% HNF4A 95.00 0 NM_175914.4/ interpretable range CS1>95% HOGA1 95.00 0 NM_138413.3/ interpretable range CS1>95% HOXA13 95.00 0 NM_000522.4/ interpretable range CS1>95% HPRT1 95.00 0 NM_000194.2/ interpretable range CS1>95% HPSE2 95.00 0 NM_021828.4/ interpretable range CS1>95% HSD11B2 95.00 0 NM_000196.3/ interpretable range CS1>95% IFT81 95.00 0 NM_014055.3/ interpretable range CS1>95% INF2 95.00 0 NM_022489.3/ interpretable range CS1>95% INVS 95.00 0 NM_014425.4/ interpretable range CS1>95% ITGA8 95.00 0 NM_003638.2/ interpretable range CS1>95% ITSN1 95.00 0 NM_003024.2/ interpretable range CS1>95% ITSN2 95.00 0 NM_147152.2/ interpretable range CS1>95% JAG1 95.00 0 NM_000214.2/ interpretable range CS1>95% KANK2 95.00 0 NM_001136191.2/ interpretable range CS1>95% KCNA1 95.00 0 NM_000217.2/ interpretable range CS1>95% KCNJ1 95.00 0 NM_000220.4/ interpretable range CS1>95% KCNJ10 95.00 0 NM_002241.4/ interpretable range CS1>95% KCNJ5 95.00 0 NM_000890.4/ interpretable range CS1>95% KL 95.00 0 NM_004795.3/ interpretable range CS1>95% KLHL3 95.00 0 NM_017415.2/ interpretable range CS1>95% LAMB2 95.00 0 NM_002292.3/ interpretable range CS1>95% LCAT 95.00 0 NM_000229.1/ interpretable range CS1>95% LDHD 95.00 0 NM_153486.3/ interpretable range CS1>95% LHX1 95.00 0 NM_005568.4/ interpretable range CS1>95% LMX1B 95.00 0 NM_002316.3/ interpretable range CS1>95% LRIG2 95.00 0 NM_014813.2/ interpretable range CS1>95% LRP2 95.00 0 NM_004525.2/ interpretable range CS1>95% LYZ 95.00 0 NM_000239.2/ interpretable range CS1>95% MAGED2 95.00 0 NM_177433.2/ interpretable range CS1>95% MAGI2 95.00 0 NM_012301.3/ interpretable range CS1>95% MAPKBP1 95.00 0 NM_001128608.1/ interpretable range CS1>95% MMACHC 95.00 0 NM_015506.2/ interpretable range CS1>95% MOCOS 95.00 0 NM_017947.3/ interpretable range CS1>95% MUC1 95.00 0 NM_002456.5/ interpretable range CS1>95% MYH11 95.00 0 NM_002474.2/ interpretable range CS1>95% MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95% MYO1E 95.00 0 NM_004998.3/ interpretable range CS1>95% MYOCD 95.00 0 NM_001146312.2/ interpretable range CS1>95% NEK9 95.00 0 NM_178170.2/ interpretable range CS1>95% NOTCH2 95.00 0 NM_024408.3/ interpretable range CS1>95% NPHP1 95.00 0 NM_000272.3/ interpretable range CS1>95% NPHP3 95.00 0 NM_153240.4/ interpretable range CS1>95% NPHP4 95.00 0 NM_015102.4/ interpretable range CS1>95% NPHS1 95.00 0 NM_004646.3/ interpretable range CS1>95% NPHS2 95.00 0 NM_014625.3/ interpretable range CS1>95% NR3C1 95.00 0 NM_001018077.1/ interpretable range CS1>95% NR3C2 95.00 0 NM_000901.4/ interpretable range CS1>95% NUP107 95.00 0 NM_020401.3/ interpretable range CS1>95% NUP133 95.00 0 NM_018230.2/ interpretable range CS1>95% NUP160 95.00 0 NM_015231.2/ interpretable range CS1>95% NUP85 95.00 0 NM_024844.4/ interpretable range CS1>95% NUP93 95.00 0 NM_014669.4/ interpretable range CS1>95% OCRL 95.00 0 NM_000276.3/ interpretable range CS1>95% OFD1 95.00 0 NM_003611.2/ interpretable range CS1>95% PAX2 95.00 0 NM_003987.4/ interpretable range CS1>95% PBX1 95.00 0 NM_002585.3/ interpretable range CS1>95% PCBD1 95.00 0 NM_000281.3/ interpretable range CS1>95% PHEX 95.00 0 NM_000444.5/ interpretable range CS1>95% PKD1 95.00 0 NM_001009944.2/ interpretable range CS1>95% PKD2 95.00 0 NM_000297.3/ interpretable range CS1>95% PKHD1 95.00 0 NM_138694.3/ interpretable range CS1>95% PLCE1 95.00 0 NM_016341.3/ interpretable range CS1>95% PODXL 95.00 0 NM_005397.3/ interpretable range CS1>95% PRPS1 95.00 0 NM_002764.3/ interpretable range CS1>95% REN 95.00 0 NM_000537.3/ interpretable range CS1>95% RET 95.00 0 NM_020975.5/ interpretable range CS1>95% ROBO2 95.00 0 NM_002942.4/ interpretable range CS1>95% SALL1 95.00 0 NM_002968.2/ interpretable range CS1>95% SARS2 95.00 0 NM_017827.3/ interpretable range CS1>95% SCARB2 95.00 0 NM_005506.3/ interpretable range CS1>95% SCNN1A 95.00 0 NM_001038.5/ interpretable range CS1>95% SCNN1B 95.00 0 NM_000336.2/ interpretable range CS1>95% SCNN1G 95.00 0 NM_001039.3/ interpretable range CS1>95% SDCCAG8 95.00 0 NM_006642.4/ interpretable range CS1>95% SEC61A1 95.00 0 NM_013336.3/ interpretable range CS1>95% SGPL1 95.00 0 NM_003901.3/ interpretable range CS1>95% SIX1 95.00 0 NM_005982.3/ interpretable range CS1>95% SIX5 95.00 0 NM_175875.4/ interpretable range CS1>95% SLC12A1 95.00 0 NM_000338.2/ interpretable range CS1>95% SLC12A3 95.00 0 NM_000339.2/ interpretable range CS1>95% SLC22A12 95.00 0 NM_144585.3/ interpretable range CS1>95% SLC2A2 95.00 0 NM_000340.1/ interpretable range CS1>95% SLC2A9 95.00 0 NM_020041.2/ interpretable range CS1>95% SLC34A1 95.00 0 NM_003052.4/ interpretable range CS1>95% SLC34A3 95.00 0 NM_080877.2/ interpretable range CS1>95% SLC3A1 95.00 0 NM_000341.3/ interpretable range CS1>95% SLC4A1 95.00 0 NM_000342.3/ interpretable range CS1>95% SLC4A4 95.00 0 NM_003759.3/ interpretable range CS1>95% SLC5A2 95.00 0 NM_003041.3/ interpretable range CS1>95% SLC7A9 95.00 0 NM_014270.4/ interpretable range CS1>95% SMARCAL1 95.00 0 NM_014140.3/ interpretable range CS1>95% TBC1D8B 95.00 0 NM_017752.2/ interpretable range CS1>95% TBX18 95.00 0 NM_001080508.2/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% TNS2 95.00 0 NM_015319.2/ interpretable range CS1>95% TRAF3IP1 95.00 0 NM_015650.3/ interpretable range CS1>95% TRAP1 95.00 0 NM_016292.2/ interpretable range CS1>95% TRPC6 95.00 0 NM_004621.5/ interpretable range CS1>95% TRPM6 95.00 0 NM_017662.4/ interpretable range CS1>95% TSC1 95.00 0 NM_000368.4/ interpretable range CS1>95% TSC2 95.00 0 NM_000548.4/ interpretable range CS1>95% TTC21B 95.00 0 NM_024753.4/ interpretable range CS1>95% TTR 95.00 0 NM_000371.3/ interpretable range CS1>95% UMOD 95.00 0 NM_003361.3/ interpretable range CS1>95% VHL 95.00 0 NM_000551.3/ interpretable range CS1>95% WDR19 95.00 0 NM_025132.3/ interpretable range CS1>95% WDR72 95.00 0 NM_182758.3/ interpretable range CS1>95% WFS1 95.00 0 NM_006005.3/ interpretable range CS1>95% WNK1 95.00 0 NM_018979.3/ interpretable range CS1>95% WNK4 95.00 0 NM_032387.4/ interpretable range CS1>95% WNT4 95.00 0 NM_030761.4/ interpretable range CS1>95% WT1 95.00 0 NM_024426.5/ interpretable range CS1>95% XDH 95.00 0 NM_000379.3/ interpretable range CS1>95% XPNPEP3 95.00 0 NM_022098.3/ interpretable range CS1>95% -
Nephropathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 99.98 1 ACTG2 99.99 1 ACTN4 100.00 1 ADAMTS13 100.00 1 ADAMTS9 99.94 1 ADCY10 99.77 1 AGXT 100.00 1 AGTR1 99.97 1 AHI1 99.86 1 ALDOB 100.00 1 ALG1 86.66 1 ALG8 95.49 1 ALG9 99.73 1 ALMS1 99.90 1 ALPL 99.88 1 ABCD1 100.00 1 ANKS6 100.00 1 ANLN 99.85 1 ANOS1 99.96 1 AP2S1 99.98 1 APOA1 100.00 1 APOA2 99.84 1 APOL1 99.99 1 APRT 100.00 1 AQP2 100.00 1 ARHGAP24 99.86 1 ARHGDIA 100.00 1 ARL13B 99.53 1 ARL6 99.90 1 ARSA 99.99 1 ATP6V0A4 99.93 1 ATP6V1B1 99.98 1 ATP7B 100.00 1 NLRP3 100.00 1 AVPR2 100.00 1 B9D1 99.80 1 B9D2 99.88 1 BBIP1 99.99 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 BICC1 99.76 1 BMP4 100.00 1 BMP7 100.00 1 BSND 99.92 1 C3 100.00 1 C5 99.92 1 CA2 99.62 1 CACNA1S 99.96 1 CASR 99.99 1 CC2D2A 99.95 1 CCDC39 99.74 1 CCNQ 99.98 1 CD151 100.00 1 CD2AP 99.69 1 CD46 99.86 1 CDC5L 99.83 1 CDKN1C 100.00 1 CEP104 99.99 1 CEP120 99.90 1 CEP164 99.99 1 CEP290 98.10 1 CEP41 99.99 1 CEP83 98.68 1 CFAP418 100.00 1 CFB 99.97 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 CHD1L 98.53 1 CHD7 99.99 1 CHRM3 100.00 1 CHRNA3 99.95 1 CLCN5 99.67 1 CLCN7 99.99 1 CLCNKA 99.98 1 CLCNKB 99.98 1 CLDN10 99.97 1 CLDN16 99.98 1 CLDN19 99.02 1 CNNM2 99.94 1 COL4A1 99.99 1 COL4A3 99.94 1 COL4A4 99.95 1 COL4A5 99.64 1 COQ2 99.90 1 COQ6 99.94 1 COQ7 100.00 1 COQ8A 100.00 1 COQ8B 99.94 1 COQ9 99.62 1 CPLANE1 99.81 1 CPT2 99.65 1 CRB2 99.95 1 CSPP1 98.31 1 CTNS 100.00 1 CUBN 99.99 1 CUL3 99.76 1 CYP11B2 100.00 1 CYP24A1 100.00 1 DAAM2 99.99 1 DCDC2 99.96 1 DGKE 99.10 1 DMP1 99.99 1 DNAJB11 99.97 1 DSTYK 99.83 1 DYNC2H1 99.66 1 DYNC2I1 99.99 1 DZIP1L 98.46 1 EGF 99.96 1 EGFR 99.68 1 EHHADH 99.99 1 EMP2 100.00 1 ENPP1 99.88 1 EVC 99.95 1 EVC2 99.97 1 EYA1 99.81 1 FANCA 99.98 1 FAHD2A 100.00 1 FAM186B 99.99 1 FAM20A 100.00 1 FAN1 99.73 1 FAT1 99.99 1 FGA 99.98 1 FGF20 99.71 1 FGF23 100.00 1 FGFR1 100.00 1 FH 99.95 1 FLCN 99.51 1 FN1 99.95 1 FRAS1 99.97 1 FREM1 99.98 1 FREM2 99.97 1 FXYD2 100.00 1 G6PC1 99.93 1 GALNT3 99.52 1 GALT 100.00 1 GANAB 99.97 1 GATA3 99.96 1 GATM 99.92 1 GDNF 99.99 1 GLA 99.90 1 GLI3 100.00 1 GLIS2 100.00 1 GNA11 99.99 1 GON7 99.92 1 GPC3 99.60 1 GRHPR 99.93 1 GRIP1 99.83 1 GSN 99.93 1 HNF1B 100.00 1 HNF4A 100.00 1 HOGA1 100.00 1 HPRT1 97.80 1 HPSE2 100.00 1 HSD11B2 99.99 1 IFT122 99.98 1 IFT140 100.00 1 IFT172 99.98 1 IFT27 100.00 1 IFT43 99.97 1 IFT80 99.69 1 IFT81 94.64 1 INCENP 99.99 1 INF2 99.99 1 INPP5E 99.85 1 INVS 99.94 1 IQCB1 99.72 1 ITGA3 99.86 1 ITGA8 99.95 1 ITGB4 99.99 1 JAG1 100.00 1 KANK1 99.99 1 KANK2 99.99 1 KANK4 99.70 1 KCNA1 100.00 1 KCNJ1 100.00 1 KCNJ10 99.98 1 KIAA0586 95.75 1 KIF14 97.80 1 KIF7 100.00 1 KL 99.98 1 KLHL3 99.97 1 LAGE3 99.99 1 LAMB2 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRIG2 97.97 1 LRP2 99.86 1 LRP5 99.95 1 LRP6 99.91 1 LYZ 99.86 1 LZTFL1 100.00 1 MAGED2 99.98 1 MAGI2 99.89 1 MAPKBP1 99.98 1 MET 99.97 1 MKKS 100.00 1 MKS1 99.92 1 MMACHC 99.98 1 MUC1 99.98 1 MYH9 99.95 1 MYO1E 99.94 1 NEIL1 99.99 1 NEK1 99.83 1 NEK9 99.99 1 NOTCH2 99.03 1 NPHP1 99.05 1 NPHP3 99.89 1 NPHP4 99.98 1 NPHS1 99.97 1 NPHS2 99.87 1 NR3C2 100.00 1 NUP107 97.46 1 NUP133 99.45 1 NUP205 99.92 1 NUP93 99.87 1 NXF5 96.29 1 OCRL 99.89 1 OFD1 99.68 1 PAX2 99.99 1 PAX8 99.99 1 PBX1 99.88 1 PCBD1 99.84 1 PDE6D 99.94 1 PDSS1 95.70 1 PDSS2 99.87 1 PHEX 99.83 1 PKD1 99.98 1 PKD2 99.91 1 PKHD1 99.95 1 PLCE1 99.98 1 PLG 99.89 1 PMM2 99.93 1 PRKCSH 99.99 1 PSAP 99.94 1 PTEN 99.89 1 PTPRO 99.91 1 PYGM 99.96 1 RBM48 99.09 1 RCOR1 99.97 1 REN 99.85 1 RET 99.97 1 ROBO2 99.80 1 RPGRIP1 99.95 1 RPGRIP1L 96.35 1 RRM2B 99.97 1 SALL1 100.00 1 SALL4 100.00 1 SARS2 99.99 1 SCARB2 99.99 1 SCNN1A 100.00 1 SCNN1B 99.38 1 SCNN1G 99.94 1 SDCCAG8 100.00 1 SDHB 97.32 1 SDHD 82.93 1 SEC61A1 99.99 1 SEC63 99.84 1 SGPL1 99.95 1 SIX1 100.00 1 SIX2 100.00 1 SIX5 100.00 1 SLC12A1 99.90 1 SLC12A3 99.84 1 SLC22A12 99.99 1 SLC26A1 100.00 1 SLC26A3 99.97 1 SLC2A2 99.96 1 SLC2A9 99.98 1 SLC34A1 99.99 1 SLC34A3 100.00 1 SLC37A4 99.90 1 SLC3A1 99.98 1 SLC41A1 99.98 1 SLC4A1 99.94 1 SLC4A4 99.97 1 SLC7A9 99.97 1 SLC9A3R1 100.00 1 SMARCAL1 99.97 1 SOX17 100.00 1 SRGAP1 99.68 1 STRADA 99.98 1 STX16 100.00 1 SYNPO 100.00 1 TBC1D1 99.96 1 TBC1D8B 99.31 1 TBX18 99.50 1 TCTN1 99.92 1 TCTN2 99.99 1 TCTN3 99.92 1 THBD 100.00 1 TMEM107 100.00 1 TMEM138 100.00 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM237 99.30 1 TMEM67 99.69 1 TNFRSF25 99.98 1 TNXB 90.86 1 TP53RK 81.09 1 TRAP1 100.00 1 TRIM32 100.00 1 TRPC6 99.99 1 TRPM6 99.93 1 TSC1 99.99 1 TSC2 99.98 1 TTC21B 99.50 1 TTC8 99.67 1 UMOD 99.98 1 UPK3A 100.00 1 UPK3B 99.62 1 VDR 99.86 1 VHL 100.00 1 VIPAS39 99.87 1 VPS33B 99.95 1 WDPCP 99.87 1 WDR19 99.80 1 WDR35 99.92 1 WDR4 99.95 1 WDR73 99.92 1 WNK1 99.98 1 WNK4 99.98 1 WNT4 99.94 1 WT1 99.99 1 XDH 99.97 1 XPNPEP3 99.99 1 XPO5 99.89 1 YRDC 99.85 1 ZMPSTE24 98.70 1 ZMYM2 99.88 1 ZNF423 98.94 1 -
Skeletal dysplasia (433 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALPL 99.89 0 No comment ALX3 81.82 0 No comment B3GALT6 53.64 0 No comment CDC73 99.96 0 No comment COL11A1 99.87 0 No comment COL9A2 99.91 0 No comment CTSK 100.00 0 No comment DDR2 99.97 0 No comment DHCR24 99.48 0 No comment DVL1 99.70 0 No comment FAM20B 100.00 0 No comment FUCA1 96.54 0 No comment GNAI3 99.97 0 No comment GNPAT 99.41 0 No comment GORAB 99.99 0 No comment HSPG2 99.38 0 No comment IARS2 99.34 0 No comment LBR 99.79 0 No comment LMNA 99.82 0 No comment NLRP3 99.84 0 No comment NOTCH2 99.99 0 No comment NRAS 99.83 0 No comment SLC25A15 100.00 0 No comment P3H1 97.17 0 No comment PIGV 100.00 0 No comment PLOD1 98.85 0 No comment RBM8A 100.00 0 No comment SF3B4 99.99 0 No comment HHAT 87.10 0 No comment SLC35D1 99.47 0 No comment TBCE 99.22 0 No comment TBX15 100.00 0 No comment TGFB2 99.98 0 No comment ZMPSTE24 99.99 0 No comment CHST3 99.60 0 No comment DNA2 99.94 0 No comment FGFR2 100.00 0 No comment KAT6B 100.00 0 No comment PAPSS2 99.05 0 No comment POLR3A 99.99 0 No comment SLC29A3 99.67 0 No comment SMC3 99.89 0 No comment TCTN3 100.00 0 No comment ALX4 98.63 0 No comment ANO5 100.00 0 No comment B3GAT3 94.57 0 No comment C2CD3 99.98 0 No comment CDKN1C 54.12 0 No comment CREB3L1 99.46 0 No comment CYP2R1 99.96 0 No comment DYNC2H1 99.85 0 No comment EED 100.00 0 No comment EXT2 100.00 0 No comment FAM111A 100.00 0 No comment FAR1 99.97 0 No comment FERMT3 99.98 0 No comment HRAS 100.00 0 No comment IFITM5 100.00 0 No comment INPPL1 96.15 0 No comment CORIN 99.08 0 No comment LRP5 98.04 0 No comment LTBP3 90.23 0 No comment MMP13 99.97 0 No comment PLCB3 99.69 0 No comment RASGRP2 99.98 0 No comment SERPINH1 99.95 0 No comment SLC39A13 100.00 0 No comment TCIRG1 99.81 0 No comment TMEM216 99.47 0 No comment ALX1 100.00 0 No comment ATP6V0A2 99.78 0 No comment CEP290 99.93 0 No comment COL2A1 99.93 0 No comment CYP27B1 99.99 0 No comment FGF23 100.00 0 No comment GDF3 99.99 0 No comment GNPTAB 99.99 0 No comment GNS 99.78 0 No comment IFT81 94.31 0 No comment LEMD3 99.18 0 No comment MGP 100.00 0 No comment PDE3A 99.86 0 No comment PEX5 99.80 0 No comment POLE 99.35 0 No comment POLR3B 99.77 0 No comment PTHLH 100.00 0 No comment PTPN11 99.63 0 No comment SP7 100.00 0 No comment TBX3 96.00 0 No comment TBX5 99.94 0 No comment TRPV4 99.94 0 No comment VDR 99.98 0 No comment VPS33A 100.00 0 No comment WNT1 93.71 0 No comment WNT10B 97.02 0 No comment FGF9 99.86 0 No comment GPC6 99.87 0 No comment KL 94.49 0 No comment POLR1D 99.79 0 No comment TGDS 99.98 0 No comment TNFSF11 92.51 0 No comment AKT1 100.00 0 No comment GSC 67.17 0 No comment IFT43 99.98 0 No comment KIAA0586 95.67 0 No comment LTBP2 99.15 0 No comment MMP14 99.96 0 No comment SRP54 100.00 0 No comment TGFB3 100.00 0 No comment TRIP11 100.00 0 No comment ACAN 98.59 0 No comment ADAMTS17 88.98 0 No comment CEP152 99.90 0 No comment CHST14 91.23 0 No comment CHSY1 90.40 0 No comment DLL4 100.00 0 No comment EFL1 100.00 0 No comment FBN1 99.99 0 No comment FMN1 98.98 0 No comment GREM1 100.00 0 No comment IDH2 91.74 0 No comment KIF7 93.03 0 No comment LRRK1 98.30 0 No comment MAP2K1 99.83 0 No comment MESP2 92.59 0 No comment PPIB 99.77 0 No comment SMAD3 99.84 0 No comment TCF12 100.00 0 No comment CDH3 99.99 0 No comment CDT1 86.20 0 No comment CLCN7 94.47 0 No comment COG4 100.00 0 No comment CREBBP 99.91 0 No comment DHODH 100.00 0 No comment GALNS 97.56 0 No comment GNPTG 93.83 0 No comment IFT140 99.46 0 No comment KIF22 99.96 0 No comment MMP2 99.64 0 No comment ORC6 99.76 0 No comment PAM16 99.79 0 No comment RPGRIP1L 97.08 0 No comment RSPRY1 100.00 0 No comment SALL1 99.99 0 No comment TBX6 99.96 0 No comment VAC14 99.95 0 No comment XYLT1 87.54 0 No comment BHLHA9 33.67 0 No comment CANT1 99.71 0 No comment CDC6 100.00 0 No comment COL1A1 99.14 0 No comment DLX3 99.32 0 No comment EFTUD2 99.97 0 No comment EIF4A3 99.96 0 No comment FKBP10 99.89 0 No comment FZD2 94.05 0 No comment HES7 73.20 0 No comment KCNJ2 100.00 0 No comment KIAA0753 99.93 0 No comment MEOX1 100.00 0 No comment MKS1 99.98 0 No comment MYH3 100.00 0 No comment NAGLU 83.94 0 No comment NF1 99.55 0 No comment NOG 97.28 0 No comment NXN 88.52 0 No comment P4HB 98.23 0 No comment PLEKHM1 100.00 0 No comment PRKAR1A 100.00 0 No comment PYCR1 99.89 0 No comment SERPINF1 99.98 0 No comment SGSH 98.08 0 No comment SMARCE1 99.93 0 No comment SOST 85.47 0 No comment SOX9 94.02 0 No comment SUZ12 94.61 0 No comment TBX4 93.25 0 No comment WNT3 99.97 0 No comment XYLT2 99.56 0 No comment DYM 99.96 0 No comment LPIN2 99.99 0 No comment RBBP8 99.92 0 No comment SMAD2 99.95 0 No comment SMAD4 100.00 0 No comment TNFRSF11A 93.69 0 No comment ACP5 100.00 0 No comment ADAMTS10 96.25 0 No comment APC2 81.13 0 No comment CCDC8 100.00 0 No comment COMP 95.73 0 No comment DLL3 70.41 0 No comment DOCK6 99.33 0 No comment ERF 99.52 0 No comment FUZ 99.97 0 No comment GPX4 80.82 0 No comment LONP1 96.60 0 No comment MAN2B1 99.85 0 No comment MEGF8 99.86 0 No comment NFIX 98.02 0 No comment SMARCA4 99.96 0 No comment TGFB1 96.92 0 No comment TYROBP 100.00 0 No comment ACVR1 100.00 0 No comment AGPS 96.06 0 No comment CKAP2L 99.99 0 No comment CRIPT 100.00 0 No comment DNMT3A 99.93 0 No comment DYNC2LI1 100.00 0 No comment EIF2AK3 93.20 0 No comment EXOC6B 99.77 0 No comment FN1 100.00 0 No comment GALNT3 100.00 0 No comment HAAO 100.00 0 No comment HDAC4 99.98 0 No comment HOXD13 79.39 0 No comment IDH1 100.00 0 No comment IFIH1 99.99 0 No comment IFT172 100.00 0 No comment IHH 95.41 0 No comment IL1RN 100.00 0 No comment KYNU 99.83 0 No comment MAP3K20 99.97 0 No comment MATN3 84.95 0 No comment MYCN 82.68 0 No comment NBAS 99.97 0 No comment NPPC 96.84 0 No comment OBSL1 92.70 0 No comment ORC4 99.80 0 No comment PAX3 100.00 0 No comment POLR1A 99.98 0 No comment SMARCAL1 99.97 0 No comment TRAF3IP1 99.21 0 No comment TTC21B 99.99 0 No comment WDR35 99.96 0 No comment WNT6 86.02 0 No comment BMP2 99.98 0 No comment COL9A3 95.51 0 No comment CTSA 100.00 0 No comment DDRGK1 99.55 0 No comment GDF5 99.89 0 No comment GNAS 98.02 0 No comment GZF1 100.00 0 No comment IFT52 99.90 0 No comment MAFB 93.44 0 No comment MMP9 99.22 0 No comment PLCB4 99.82 0 No comment SALL4 99.95 0 No comment SNRPB 100.00 0 No comment CFAP410 97.53 0 No comment PCNT 99.77 0 No comment CDC45 99.98 0 No comment EP300 99.98 0 No comment FBLN1 96.88 0 No comment MYO18B 99.99 0 No comment PISD 100.00 0 No comment SMARCB1 99.82 0 No comment ARHGAP31 100.00 0 No comment ANTXR1 99.99 0 No comment CASR 100.00 0 No comment CRTAP 81.42 0 No comment DVL3 99.34 0 No comment EOGT 99.98 0 No comment FLNB 99.96 0 No comment GLB1 99.90 0 No comment IFT122 99.99 0 No comment IFT80 100.00 0 No comment MECOM 100.00 0 No comment PCYT1A 99.99 0 No comment PIK3CA 99.96 0 No comment PLOD2 99.98 0 No comment PTH1R 99.25 0 No comment SETD2 99.95 0 No comment SLCO2A1 96.63 0 No comment SUMF1 99.78 0 No comment DYNLT2B 100.00 0 No comment TGFBR2 99.95 0 No comment THPO 99.99 0 No comment TP63 100.00 0 No comment TRAIP 100.00 0 No comment WNT5A 98.62 0 No comment WNT7A 99.99 0 No comment AGA 99.97 0 No comment ANTXR2 99.90 0 No comment BMPR1B 100.00 0 No comment CC2D2A 98.16 0 No comment CENPE 99.94 0 No comment DMP1 100.00 0 No comment EDNRA 100.00 0 No comment EVC 94.28 0 No comment EVC2 95.65 0 No comment FGFR3 96.50 0 No comment HPGD 99.90 0 No comment IDUA 72.91 0 No comment INTU 99.96 0 No comment MANBA 99.98 0 No comment NEK1 99.99 0 No comment NKX3-2 81.45 0 No comment RAB33B 100.00 0 No comment RBPJ 99.99 0 No comment SEC24D 99.96 0 No comment SGMS2 100.00 0 No comment SH3BP2 91.41 0 No comment SLC10A7 100.00 0 No comment TMEM165 84.88 0 No comment UFSP2 99.95 0 No comment WDR19 99.86 0 No comment ANKH 100.00 0 No comment SLURP1 89.49 0 No comment B4GALT7 94.62 0 No comment CEP120 99.94 0 No comment CSF1R 99.99 0 No comment DNAJC21 98.67 0 No comment FBN2 100.00 0 No comment FGF10 99.98 0 No comment HSPA9 99.97 0 No comment LIFR 99.96 0 No comment MSX2 96.59 0 No comment NIPBL 99.88 0 No comment NPRL3 98.86 0 No comment NSD1 99.98 0 No comment PDE4D 95.51 0 No comment PITX1 85.50 0 No comment SH3PXD2B 98.58 0 No comment SLC26A2 100.00 0 No comment SPARC 99.99 0 No comment TCOF1 99.93 0 No comment XRCC4 100.00 0 No comment ZSWIM6 86.31 0 No comment ARID1B 87.88 0 No comment CCN6 100.00 0 No comment CILK1 99.98 0 No comment COL10A1 99.95 0 No comment COL11A2 99.39 0 No comment COL9A1 99.98 0 No comment CUL7 99.99 0 No comment DSE 99.98 0 No comment EDN1 100.00 0 No comment ENPP1 94.24 0 No comment FIG4 99.98 0 No comment GCM2 100.00 0 No comment GJA1 100.00 0 No comment GMNN 99.76 0 No comment ID4 47.73 0 No comment MAP3K7 99.98 0 No comment NEU1 100.00 0 No comment OSTM1 98.35 0 No comment PEX7 89.02 0 No comment POLR1C 90.66 0 No comment RAB23 100.00 0 No comment RIPPLY2 99.13 0 No comment RUNX2 98.89 0 No comment SLC17A5 99.77 0 No comment TAB2 99.99 0 No comment TENT5A 100.00 0 No comment TREM2 100.00 0 No comment BMPER 99.99 0 No comment COL1A2 99.76 0 No comment DLX5 100.00 0 No comment DLX6 97.97 0 No comment EZH2 99.99 0 No comment FAM20C 85.07 0 No comment FKBP14 100.00 0 No comment GLI3 99.57 0 No comment GUSB 99.07 0 No comment HOXA11 93.99 0 No comment HOXA13 62.78 0 No comment LFNG 77.64 0 No comment MET 100.00 0 No comment MNX1 57.45 0 No comment PORCN 100.00 0 No comment SBDS 100.00 0 No comment SFRP4 100.00 0 No comment SHH 84.39 0 No comment SNX10 100.00 0 No comment TBXAS1 99.97 0 No comment TRPV6 97.14 0 No comment TWIST1 65.85 0 No comment DYNC2I1 99.46 0 No comment BMP1 98.10 0 No comment CA2 99.75 0 No comment CSGALNACT1 100.00 0 No comment ESCO2 99.58 0 No comment EXT1 100.00 0 No comment EXTL3 100.00 0 No comment FGFR1 100.00 0 No comment GDF6 78.76 0 No comment HGSNAT 93.82 0 No comment BPNT2 95.84 0 No comment NSMCE2 100.00 0 No comment BVES 100.00 0 No comment PTDSS1 100.00 0 No comment RAD21 99.73 0 No comment RECQL4 96.02 0 No comment RSPO2 100.00 0 No comment SLCO5A1 100.00 0 No comment SULF1 100.00 0 No comment TMEM67 98.60 0 No comment TNFRSF11B 100.00 0 No comment TONSL 97.93 0 No comment TRPS1 100.00 0 No comment ADAMTSL2 99.89 0 No comment COL27A1 99.30 0 No comment DDX58 99.67 0 No comment LMX1B 99.15 0 No comment MTAP 100.00 0 No comment NANS 99.98 0 No comment NOTCH1 98.74 0 No comment NPRL2 100.00 0 No comment ROR2 96.45 0 No comment SLC34A3 99.88 0 No comment TGFBR1 93.53 0 No comment TMEM38B 99.95 0 No comment DYNC2I2 90.81 0 No comment AIFM1 99.79 0 No comment AMER1 99.98 0 No comment ARSL 99.11 0 No comment BGN 99.92 0 No comment CCNQ 85.14 0 No comment CLCN5 99.91 0 No comment EFNB1 99.50 0 No comment FLNA 99.50 0 No comment HDAC8 99.86 0 No comment IDS 99.52 0 No comment IKBKG 95.61 0 No comment MBTPS2 99.93 0 No comment NSDHL 99.99 0 No comment OFD1 99.25 0 No comment PHEX 96.86 0 No comment PLS3 99.84 0 No comment SHOX 87.73 0 No comment SMC1A 99.50 0 No comment TRAPPC2 99.83 0 No comment -
Tubulopathy/Hyperuricemia (gene panel) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY10 100.00 1 NM_018417.6 AGXT 100.00 1 NM_000029.4 ALDOB 100.00 1 NM_000030.3 ALPL 100.00 1 NM_000035.4 AP2S1 100.00 1 NM_000478.6 AQP2 100.00 1 NM_004069.6 ATP6V0A4 100.00 1 NM_000486.5 ATP6V1B1 100.00 1 NM_020632.3 ATP7B 100.00 1 NM_001692.4 AVPR2 100.00 1 NM_000053.4 BSND 100.00 1 NM_000054.6 CASR 100.00 1 NM_057176.3 CLCN5 100.00 1 NM_000388.4 CLCNKB 100.00 1 NM_001127898.4 CLDN10 100.00 1 NM_000085.5 CLDN16 100.00 1 NM_006984.5 CLDN19 100.00 1 NM_006580.3 CNNM2 100.00 1 NM_148960.3 CTNS 100.00 1 NM_017649.5 CUL3 100.00 1 NM_004937.3 CYP24A1 100.00 1 NM_003590.5 EGF 100.00 1 NM_000782.5 EGFR 100.00 1 NM_001963.6 EHHADH 100.00 1 NM_005228.5 FAH 100.00 1 NM_001966.4 FAN1 100.00 1 NM_000137.4 FGF23 100.00 1 NM_014967.5 FXYD2 100.00 1 NM_020638.3 G6PC1 100.00 1 NM_001680.5 GALT 100.00 1 NM_000151.4 GATM 100.00 1 NM_000155.4 GNA11 100.00 1 NM_001482.3 GRHPR 100.00 1 NM_002067.5 HNF1B 100.00 1 NM_012203.2 HOGA1 100.00 1 NM_000458.4 HSD11B2 100.00 1 NM_138413.4 KCNJ1 100.00 1 NM_000196.4 KCNJ10 100.00 1 NM_000220.6 KLHL3 100.00 1 NM_002241.5 MAGED2 100.00 1 NM_017415.3 NR3C2 100.00 1 NM_177433.3 OCRL 100.00 1 NM_000901.5 PCBD1 100.00 1 NM_000276.4 PHEX 100.00 1 NM_000281.4 REN 100.00 1 NM_000444.6 SCNN1A 100.00 1 NM_000537.4 SCNN1B 100.00 1 NM_001038.6 SCNN1G 100.00 1 NM_000336.3 SEC61A1 100.00 1 NM_001039.4 SLC12A1 100.00 1 NM_013336.4 SLC12A3 100.00 1 NM_000338.3 SLC2A2 100.00 1 NM_001126108.2 SLC34A1 100.00 1 NM_000340.2 SLC34A3 100.00 1 NM_003052.5 SLC3A1 100.00 1 NM_001177316.2 SLC4A1 100.00 1 NM_000341.4 SLC4A4 100.00 1 NM_000342.4 SLC5A2 100.00 1 NM_001098484.3 SLC7A9 100.00 1 NM_003041.4 SLC9A3R1 100.00 1 NM_014270.5 TRPM6 100.00 1 NM_004252.5 UMOD 100.00 1 NM_017662.5 VDR 100.00 1 NM_001278614.2 VIPAS39 100.00 1 NM_000376.3 VPS33B 100.00 1 NM_001193314.2 WNK1 100.00 1 NM_018668.5 WNK4 100.00 1 NM_018979.4 AGTR1 100.00 1 no APRT 100.00 1 no CA2 100.00 1 no CACNA1H 100.00 1 no CLCN2 100.00 1 no CLCNKA 100.00 1 no CYP11B1 100.00 1 no CYP17A1 100.00 1 no DMP1 100.00 1 no ENPP1 100.00 1 no FANCA 100.00 1 no FAM20A 100.00 1 no FOXI1 100.00 1 no HNF1A 100.00 1 no HNF4A 100.00 1 no HPRT1 100.00 1 no KCNJ16 100.00 1 no KCNJ5 100.00 1 no KL 100.00 1 no LAGE3 100.00 1 no LDHD 100.00 1 no LRP2 100.00 1 no MEN1 100.00 1 no MOCOS 100.00 1 no PRPS1 100.00 1 no SLC16A12 100.00 1 no SLC22A12 100.00 1 no SLC2A9 100.00 1 no SLC36A2 100.00 1 no SLC5A1 100.00 1 no SLC6A19 100.00 1 no SLC6A20 100.00 1 no WDR72 100.00 1 no WFS1 100.00 1 no XDH 100.00 1 no