- Analytes
- GDNF
GDNF
Name: |
glial cell derived neurotrophic factor
|
Symbol: |
GDNF
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
ATF1
ATF2
HFB1-GDNF
astrocyte-derived trophic factor
glial cell line derived neurotrophic factor
glial derived neurotrophic factor
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
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Congenital structural heart defects - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AATK 99.98 1 ABL1 100.00 1 ACAN 91.51 1 ACTA1 99.99 1 ACTB 100.00 1 ACTC1 98.57 1 ACTG1 100.00 1 ACTN2 99.99 1 ACVR1 99.94 1 ACVR1B 99.99 1 ACVR2A 99.15 1 ACVR2B 99.99 1 ACVRL1 99.88 1 ADAMTS10 99.99 1 ADNP 100.00 1 AKAP12 100.00 1 AKT1 100.00 1 AKT2 99.85 1 ALDH1A2 99.97 1 ALX3 99.74 1 ANKRD1 99.57 1 ANKRD11 99.85 1 AP1B1 99.99 1 APAF1 98.70 1 AR 99.76 1 ARHGAP31 100.00 1 ARID4A 99.90 1 ATP2A2 99.98 1 ATRX 99.44 1 AXIN1 100.00 1 BCOR 99.97 1 BMP10 99.96 1 BMP2 99.79 1 BMP4 100.00 1 BMP6 100.00 1 BMP7 100.00 1 BMPR1A 99.58 1 BMPR2 99.95 1 BRAF 99.78 1 BRIP1 99.39 1 BVES 99.83 1 CASQ2 94.39 1 CAV1 99.97 1 CAV3 100.00 1 CBL 99.95 1 CCDC103 99.68 1 CCDC39 99.74 1 CCDC40 100.00 1 CCDC65 99.80 1 CCN1 99.99 1 CCNO 100.00 1 CD96 99.91 1 CDK13 99.83 1 CDK4 100.00 1 CDX2 100.00 1 CENPF 99.97 1 CFAP53 99.95 1 CFC1 21.93 1 CHAC2 99.68 1 CHD4 99.99 1 CHD7 99.99 1 CHD8 99.96 1 CITED2 100.00 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COX7B 99.86 1 CREBBP 99.97 1 CRELD1 99.99 1 CRIP2 99.99 1 CRYAB 100.00 1 CSNK1D 99.99 1 CSRP1 99.75 1 CSRP3 100.00 1 CTNNB1 99.95 1 DDX3X 99.01 1 DES 100.00 1 DIAPH3 99.85 1 DICER1 99.96 1 DLGAP5 99.83 1 DLL1 99.99 1 DLL4 100.00 1 DNAAF1 99.99 1 DNAAF11 99.80 1 DNAAF2 99.91 1 DNAAF3 99.99 1 DNAAF4 99.78 1 DNAAF5 99.99 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAJB13 99.91 1 DNAH9 99.79 1 DRC1 99.93 1 DSCAM 99.99 1 DVL1 100.00 1 DYRK1A 99.98 1 E2F1 99.99 1 ECE1 99.92 1 EDNRA 99.97 1 EFEMP2 99.94 1 EFNB1 99.95 1 EFTUD2 99.93 1 EGFR 99.68 1 EGR1 99.99 1 EHMT1 98.38 1 ELN 99.86 1 ENG 100.00 1 EOGT 99.09 1 EP300 99.97 1 EPHB2 99.86 1 EPHB4 99.82 1 ERBB2 99.98 1 ERCC4 99.92 1 ESR2 99.96 1 ETS1 99.99 1 EVC 99.95 1 EVC2 99.97 1 EWSR1 99.94 1 EZH2 99.89 1 F2R 99.98 1 FABP3 99.87 1 FADD 99.97 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FBLN1 98.69 1 FBLN7 99.95 1 FBN1 99.85 1 FBN2 99.90 1 FGF10 99.95 1 FGF8 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FHL2 100.00 1 FIBP 99.83 1 FLII 100.00 1 FLNA 99.99 1 FLNC 99.99 1 FLT1 99.99 1 FLT4 97.93 1 FN1 99.95 1 FOXC1 100.00 1 FOXC2 100.00 1 FOXH1 100.00 1 FOXK2 99.76 1 FOXL1 100.00 1 FOXL2 99.97 1 FOXO1 100.00 1 FOXP1 99.98 1 FSCN2 100.00 1 G6PC3 99.98 1 GAS8 100.00 1 GATA2 99.99 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD2B 99.44 1 GDF1 100.00 1 GDF11 99.97 1 GDF5 100.00 1 GDNF 99.99 1 GJA1 100.00 1 GJA5 100.00 1 GJD2 99.99 1 GLB1 100.00 1 GLI2 99.93 1 GLI3 100.00 1 GPC3 99.60 1 GPC5 99.96 1 GPC6 99.98 1 GRK5 99.97 1 GTF2I 47.18 1 GTF2IRD1 99.77 1 HAND1 99.99 1 HAND2 99.97 1 HDAC8 99.74 1 HES4 100.00 1 HEY2 99.75 1 HIF1A 99.87 1 HMGB2 99.99 1 HNF1A 100.00 1 HNF4A 100.00 1 HOXA1 100.00 1 HOXB2 99.99 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HYDIN 81.28 1 ID2 100.00 1 IGF1R 100.00 1 IGFBP4 99.85 1 IKBKB 99.93 1 ILK 100.00 1 INHBA 99.98 1 INHBC 99.99 1 INPP5D 99.98 1 INSR 99.99 1 IRS1 100.00 1 IRX4 99.99 1 ISL1 99.99 1 ITGAV 99.40 1 ITGB1 99.96 1 ITGB3 99.83 1 ITGB4 99.99 1 JAG1 100.00 1 JAM3 100.00 1 JUN 100.00 1 KANSL1 99.85 1 KAT6A 99.93 1 KAT6B 99.79 1 KDM3B 99.98 1 KDM5A 99.90 1 KDM5B 97.15 1 KDM6A 99.74 1 KDR 99.86 1 KIT 99.86 1 KMT2D 99.98 1 KRAS 99.13 1 KREMEN1 99.88 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMC1 99.55 1 LBR 99.66 1 LEFTY1 99.98 1 LEFTY2 100.00 1 LHX3 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRP2 99.86 1 LTBP1 99.95 1 LTBP3 99.96 1 LZTR1 99.46 1 MAFG 100.00 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK14 99.95 1 MCTP2 99.99 1 MECOM 99.97 1 MED13L 99.99 1 MEF2C 99.57 1 MEGF8 99.90 1 MESP1 100.00 1 MET 99.97 1 METTL3 99.98 1 MGP 99.95 1 MID1 99.90 1 MITF 99.98 1 MMP2 99.96 1 MMP21 99.99 1 MSX1 100.00 1 MTHFD1 100.00 1 MTHFR 99.97 1 MTRR 99.98 1 MYBPC3 99.98 1 MYC 100.00 1 MYH10 99.91 1 MYH11 99.16 1 MYH6 100.00 1 MYH7 99.99 1 MYH9 99.95 1 MYL2 99.99 1 MYL3 99.99 1 MYL7 99.95 1 MYOCD 99.99 1 MYOM1 99.98 1 MYOZ2 99.99 1 NF1 99.88 1 NFATC1 100.00 1 NFIX 99.99 1 NFKB1 99.80 1 NID2 99.97 1 NIPBL 99.34 1 NKX2-1 100.00 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NME8 99.83 1 NNMT 100.00 1 NODAL 99.98 1 NONO 99.94 1 NOS3 93.73 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NOTCH3 99.99 1 NPHP3 99.89 1 NPHP4 99.98 1 NPPA 100.00 1 NR2F2 100.00 1 NR4A2 99.97 1 NRAS 99.66 1 NRP1 99.99 1 NRP2 99.98 1 NSD1 99.98 1 ODAD1 96.04 1 ODAD2 98.19 1 ODAD3 99.96 1 ODAD4 99.85 1 OTX2 100.00 1 PACS1 99.96 1 PAX3 100.00 1 PCSK5 99.97 1 PDGFC 99.97 1 PDGFRA 99.94 1 PDGFRB 99.99 1 PDHX 100.00 1 PIGA 99.81 1 PIGL 99.98 1 PIGN 99.91 1 PIGT 99.95 1 PITX2 99.98 1 PKD1L1 99.84 1 PLAGL1 99.96 1 PLAT 99.99 1 POU5F1 100.00 1 PPARG 99.96 1 PPARGC1A 99.82 1 PPP3CA 99.84 1 PRKACA 99.95 1 PRKD1 99.96 1 PROX1 99.98 1 PRRX1 99.56 1 PSEN1 100.00 1 PSEN2 99.97 1 PTEN 99.89 1 PTK2 99.97 1 PTP4A3 99.99 1 PTPN11 99.98 1 PUF60 100.00 1 RAB23 99.97 1 RAD21 99.91 1 RAD51C 99.02 1 RAF1 99.97 1 RAI1 99.22 1 RAI2 99.98 1 RARB 99.99 1 RARG 99.98 1 RB1 99.84 1 RBBP7 99.87 1 RBL2 99.44 1 RBM10 99.98 1 RBM8A 99.37 1 RELA 99.99 1 RERE 99.94 1 RET 99.97 1 RGS19 99.88 1 RIT1 99.78 1 RNF20 99.93 1 ROR2 99.99 1 RPGR 94.45 1 RPL11 99.81 1 RPL15 31.77 1 RPL26 30.55 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RSPH1 99.87 1 RSPH3 99.94 1 RSPH4A 99.95 1 RSPH9 99.99 1 RYR2 99.94 1 SALL1 100.00 1 SALL4 100.00 1 SCN5A 100.00 1 SESN1 99.95 1 SF3B4 99.65 1 SGCA 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOC2 99.96 1 HHAT 99.98 1 SLC19A1 99.99 1 SLC25A4 100.00 1 SLC2A10 100.00 1 SLX4 100.00 1 SMAD2 99.92 1 SMAD3 99.99 1 SMAD4 99.97 1 SMAD6 100.00 1 SMARCE1 99.87 1 SMC1A 99.98 1 SMC3 99.91 1 SMG9 99.99 1 SOS1 99.68 1 SOS2 99.39 1 SOX2 100.00 1 SOX4 99.36 1 SP1 99.98 1 SPAG1 99.78 1 SPATC1L 99.99 1 SPECC1L 99.98 1 SRCAP 99.99 1 SRF 99.99 1 STAT3 99.97 1 STRA6 99.95 1 SUZ12 98.58 1 TAB2 99.75 1 TBX1 99.95 1 TBX2 99.97 1 TBX20 99.99 1 TBX3 100.00 1 TBX5 99.98 1 TBX6 99.99 1 TCAP 100.00 1 TCF21 100.00 1 TCF3 100.00 1 TCN2 100.00 1 CRIPTO 99.82 1 TEAD1 99.97 1 TEK 99.98 1 TFAP2A 100.00 1 TFAP2B 99.98 1 TFAP2C 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TGIF1 100.00 1 THBS1 100.00 1 THBS4 100.00 1 THOC5 99.90 1 THRB 99.82 1 DDR2 97.39 1 TLL1 99.94 1 TNFRSF11A 100.00 1 TNFRSF1A 100.00 1 TNNI3 100.00 1 TNNT2 99.87 1 TNR 99.80 1 TP53 99.98 1 TP73 100.00 1 TPM1 99.92 1 TRPM2 99.99 1 TSR2 99.96 1 TTN 99.15 1 TWIST1 100.00 1 UBE2B 99.94 1 UBE2T 99.89 1 USP44 99.86 1 USP9X 99.84 1 VCAN 99.99 1 VDR 99.86 1 VEGFA 99.99 1 VEGFC 99.96 1 WASHC5 99.98 1 WDR5 100.00 1 WNT11 100.00 1 WT1 99.99 1 YY1 100.00 1 ZEB2 99.97 1 ZFHX3 99.96 1 ZFPM2 100.00 1 ZIC3 99.90 1 ZMYND10 99.99 1 -
Hereditary cancer predisposition - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABRAXAS1 100.00 0 ACD 100.00 0 AIP 100.00 0 AMER1 100.00 0 APC 100.00 0 ATM 100.00 0 AXIN2 100.00 0 BAP1 100.00 0 BARD1 100.00 0 BLM 100.00 0 BMPR1A 100.00 0 BRCA1 100.00 0 BRCA2 100.00 0 BRIP1 100.00 0 BUB1B 100.00 0 BUB3 100.00 0 CDH1 100.00 0 CDK12 100.00 0 CDK4 100.00 0 CDKN1B 100.00 0 CDKN2A 100.00 0 CHEK1 100.00 0 CHEK2 100.00 0 CTNNA1 100.00 0 CTNNB1 100.00 0 DICER1 100.00 0 EDN3 100.00 0 EDNRB 100.00 0 EPCAM 100.00 0 ERCC4 100.00 0 FANCA 100.00 0 FANCB 100.00 0 FANCC 100.00 0 FANCD2 100.00 0 FANCE 100.00 0 FANCF 100.00 0 FANCG 100.00 0 FANCI 100.00 0 FANCL 100.00 0 FANCM 100.00 0 FH 100.00 0 FLCN 100.00 0 GDNF 100.00 0 GREM1 100.00 0 HNF1B 100.00 0 HOXB13 100.00 0 MAD2L2 100.00 0 MAX 100.00 0 MEN1 100.00 0 MET 100.00 0 MITF 100.00 0 MLH1 100.00 0 MRE11 100.00 0 MSH2 100.00 0 MSH3 100.00 0 MSH6 100.00 0 MUTYH 100.00 0 NBN 100.00 0 NRG3 100.00 0 NRTN 100.00 0 NTHL1 100.00 0 PALB2 100.00 0 PALLD 100.00 0 PBRM1 100.00 0 PMS2 100.00 0 POLD1 100.00 0 POLE 100.00 0 POT1 100.00 0 PPP2R2A 100.00 0 PTEN 100.00 0 RABL3 100.00 0 RAD50 100.00 0 RAD51 100.00 0 RAD51B 100.00 0 RAD51C 100.00 0 RAD51D 100.00 0 RAD54L 100.00 0 RECQL 100.00 0 RET 100.00 0 RFWD3 100.00 0 RNF43 100.00 0 SDHA 100.00 0 SDHAF2 100.00 0 SDHB 100.00 0 SDHC 100.00 0 SDHD 100.00 0 SEMA3C 100.00 0 SEMA3D 100.00 0 SLX4 100.00 0 SMAD4 100.00 0 SMARCA4 100.00 0 SOX10 100.00 0 SPINK1 100.00 0 STK11 100.00 0 SUCLG2 100.00 0 TERF2IP 100.00 0 TERT 100.00 0 TMEM127 100.00 0 TP53 100.00 0 TSC1 100.00 0 TSC2 100.00 0 UBE2T 100.00 0 VHL 100.00 0 WT1 100.00 0 XRCC2 100.00 0 MBD4 100.00 0 NRG1 100.00 0 -
Hirschsprung disease - Ugent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments RET 100.00 0 EDNRB 100.00 0 EDN3 100.00 0 SOX10 100.00 0 GDNF 100.00 0 NRTN 100.00 0 SEMA3C 100.00 0 SEMA3D 100.00 0 NRG3 100.00 0 NRG1 100.00 0 -
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 -
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 NHERF1 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