- Analytes
- HSPB1
HSPB1
Name: |
heat shock protein family B (small) member 1
|
Symbol: |
HSPB1
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
CMT2F
HSP27
HSP28
Hs.76067
Hsp25
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
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- Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
- Congenital structural heart defects (gene panel)
- Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
- Neuromuscular disorders (548 genes)
- Neuromuscular disorders (gene panel)
- Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
- Neuropathy (gene panel)
- Neuropathy (gene panel)
- Peripheral neuropathy (gene panel)
-
Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 NM_001605.2 ABCD1 100.00 0 NM_000033.3 ABHD12 98.00 0 NM_001042472.2 AGTPBP1 99.90 0 NM_001286715.1 AIFM1 100.00 0 NM_004208.3 APTX 99.00 0 NM_175073.2 ARHGEF10 100.00 0 NM_014629.3 ATL1 100.00 0 NM_015915.4 ATL3 100.00 0 NM_015459.4 ATP1A1 100.00 0 NM_000701.7 ATP7A 100.00 0 NM_000052.6 BAG3 100.00 0 NM_004281.3 BICD2 100.00 0 NM_001003800.1 BSCL2 100.00 0 NM_032667.6 MTRFR 100.00 0 NM_152269.4 CCT5 100.00 0 NM_012073.4 CD59 100.00 0 NM_203330.2 CNTNAP1 100.00 0 NM_003632.2 COA7 100.00 0 NM_023077.2 COX6A1 100.00 0 NM_004373.3 CTDP1 98.90 0 NM_004715.4 DCAF8 100.00 0 NM_015726.3 DCTN1 100.00 0 NM_004082.4 DGAT2 100.00 0 NM_032564.4 DHTKD1 99.90 0 NM_018706.6 DNAJB2 100.00 0 NM_001039550.1 DNM2 100.00 0 NM_001005360.2 DNMT1 99.50 0 NM_001130823.2 DRP2 100.00 0 NM_001939.2 DST 100.00 0 NM_001723.5 DYNC1H1 100.00 0 NM_001376.4 EGR2 100.00 0 NM_000399.4 ELP1 100.00 0 NM_003640.4 FBLN5 100.00 0 NM_006329.3 FBXO38 100.00 0 NM_030793.4 FGD4 100.00 0 NM_139241.3 FIG4 100.00 0 NM_014845.5 FLVCR1 100.00 0 NM_014053.3 GAN 100.00 0 NM_022041.3 GARS1 100.00 0 NM_002047.3 GDAP1 100.00 0 NM_018972.3 GJB1 100.00 0 NM_000166.5 GJB3 100.00 0 NM_024009.2 GLA 100.00 0 NM_000169.2 GNB4 100.00 0 NM_021629.3 HADHA 100.00 0 NM_000182.4 HADHB 100.00 0 NM_000183.2 HARS1 100.00 0 NM_002109.5 HINT1 100.00 0 NM_005340.6 HK1 100.00 0 NM_000188.2 HOXD10 100.00 0 NM_002148.3 HSPB1 99.00 0 NM_001540.4 HSPB3 100.00 0 NM_006308.2 HSPB8 100.00 0 NM_014365.2 IARS2 100.00 0 NM_018060.3 IFRD1 99.90 0 NM_001550.3 IGHMBP2 100.00 0 NM_002180.2 INF2 98.80 0 NM_022489.3 ITPR3 99.50 0 NM_002224.3 KARS1 100.00 0 NM_001130089.1 KIF1A 99.90 0 NM_004321.7 KIF1B 100.00 0 NM_015074.3 KIF5A 100.00 0 NM_004984.3 KLHL13 100.00 0 NM_033495.3 LITAF 100.00 0 NM_004862.3 LMNA 99.90 0 NM_170707.3 LRSAM1 100.00 0 NM_138361.5 MARS1 100.00 0 NM_004990.3 MCM3AP 100.00 0 NM_003906.4 MED25 100.00 0 NM_030973.3 MFN2 100.00 0 NM_014874.3 MME 100.00 0 NM_007289.3 MORC2 100.00 0 NM_001303256.2 MPV17 100.00 0 NM_002437.4 MPZ 100.00 0 NM_000530.7 MTMR2 100.00 0 NM_016156.5 MYH7B 99.80 0 NM_024729.3 NAGLU 99.70 0 NM_000263.3 NDRG1 100.00 0 NM_006096.3 NEFH 99.50 0 NM_021076.3 NEFL 99.60 0 NM_006158.4 NGF 100.00 0 NM_002506.2 NTRK1 100.00 0 NM_001012331.1 MED12 100.00 0 NM_015560.2 OPA3 100.00 0 NM_025136.3 PDK3 100.00 0 NM_001142386.2 PDXK 100.00 0 NM_003681.4 PEX1 100.00 0 NM_000466.2 PEX7 100.00 0 NM_000288.3 PHYH 100.00 0 NM_006214.3 PLEKHG5 99.80 0 NM_020631.4 PMP2 100.00 0 NM_002677.4 PMP22 100.00 0 NM_000304.3 PNKP 99.80 0 NM_007254.3 POLG 100.00 0 NM_002693.2 PRDM12 90.30 0 NM_021619.2 PRNP 100.00 0 NM_000311.4 PRPS1 100.00 0 NM_002764.3 PRX 100.00 0 NM_181882.2 RAB7A 100.00 0 NM_004637.5 REEP1 100.00 0 NM_022912.2 RETREG1 99.40 0 NM_001034850.2 SBF1 99.70 0 NM_002972.3 SBF2 100.00 0 NM_030962.3 SCN10A 100.00 0 NM_006514.3 SCN11A 99.80 0 NM_014139.2 SCN9A 100.00 0 NM_002977.3 SCO2 100.00 0 NM_005138.2 SCP2 100.00 0 NM_002979.4 SEPTIN9 99.20 0 NM_006640.4 SETX 100.00 0 NM_015046.6 SGPL1 100.00 0 NM_003901.3 SH3BP4 100.00 0 NM_014521.2 SH3TC2 100.00 0 NM_024577.3 SIGMAR1 100.00 0 NM_005866.3 SLC12A6 100.00 0 NM_133647.1 SLC25A46 100.00 0 NM_138773.3 SLC5A7 100.00 0 NM_021815.4 SORD 91.20 0 NM_003104.5 SOX10 100.00 0 NM_006941.3 SPG11 100.00 0 NM_025137.3 SPTLC1 100.00 0 NM_006415.3 SPTLC2 100.00 0 NM_004863.3 SURF1 99.00 0 NM_003172.3 TDP1 100.00 0 NM_018319.3 TECPR2 100.00 0 NM_014844.4 TFG 100.00 0 NM_006070.5 TRIM2 100.00 0 NM_001130067.1 TRPA1 100.00 0 NM_007332.2 TRPV4 99.90 0 NM_021625.4 TTR 100.00 0 NM_000371.3 TUBB3 100.00 0 NM_006086.3 TWNK 100.00 0 NM_021830.4 TYMP 100.00 0 NM_001953.4 VCP 99.90 0 NM_007126.4 VRK1 100.00 0 NM_003384.2 WARS1 99.80 0 NM_004184.3 WNK1 99.80 0 NM_018979.3 YARS1 100.00 0 NM_003680.3 -
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 -
Neuromuscular disorders (548 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACAD9 100.00 0 No comment ACADL 98.57 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADVL 98.04 0 No comment ACTA1 99.79 0 No comment ACVR1 100.00 0 No comment ADAR 100.00 0 No comment ADSS1 99.98 0 No comment AFG3L2 94.80 0 No comment AGK 100.00 0 No comment AGL 100.00 0 No comment AGRN 96.53 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDOA 100.00 0 No comment ALG13 99.53 0 No comment ALG14 100.00 0 No comment ALG2 99.83 0 No comment ALS2 100.00 0 No comment AMPD1 100.00 0 No comment AMPD2 99.90 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ANXA11 99.99 0 No comment AP4B1 100.00 0 No comment AP4E1 99.99 0 No comment AP4M1 100.00 0 No comment AP4S1 100.00 0 No comment AP5Z1 99.25 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF10 99.98 0 No comment ARHGEF28 99.05 0 No comment ARL6IP1 100.00 0 No comment ARSI 99.82 0 No comment ASAH1 100.00 0 No comment ASCC1 91.30 0 No comment ATL1 99.89 0 No comment ATL3 99.93 0 No comment ATM 100.00 0 No comment ATP13A2 98.30 0 No comment ATP1A1 100.00 0 No comment ATP2A1 100.00 0 No comment ATP7A 100.00 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment B3GALNT2 92.96 0 No comment B4GAT1 99.99 0 No comment B4GALNT1 99.99 0 No comment BAG3 100.00 0 No comment BCS1L 100.00 0 No comment BICD2 100.00 0 No comment BIN1 99.94 0 No comment BSCL2 100.00 0 No comment BVES 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 99.47 0 No comment C9ORF72 99.96 0 No comment CACNA1A 99.53 0 No comment CACNA1S 100.00 0 No comment CAPN1 99.97 0 No comment CAPN3 99.99 0 No comment CASQ1 100.00 0 No comment CAV3 100.00 0 No comment CCDC78 100.00 0 No comment CCT5 99.92 0 No comment CFL2 100.00 0 No comment CHAT 99.97 0 No comment CHCHD10 99.66 0 No comment CHKB 99.75 0 No comment CHMP2B 100.00 0 No comment CHRNA1 99.99 0 No comment CHRNB1 99.95 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 99.87 0 No comment CHST14 99.50 0 No comment CLCN1 100.00 0 No comment CLN3 100.00 0 No comment CLN8 100.00 0 No comment CLTCL1 99.04 0 No comment CNBP 100.00 0 No comment CNTN1 100.00 0 No comment CNTNAP1 100.00 0 No comment COL12A1 100.00 0 No comment COL13A1 99.52 0 No comment COL6A1 99.90 0 No comment COL6A2 99.98 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX15 99.99 0 No comment COX20 100.00 0 No comment COX6A1 100.00 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CPT1C 100.00 0 No comment CPT2 98.55 0 No comment CRYAB 100.00 0 No comment CSF1R 99.99 0 No comment CTDP1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DAG1 100.00 0 No comment DARS2 100.00 0 No comment DCAF8 100.00 0 No comment DCTN1 100.00 0 No comment DDHD1 99.58 0 No comment DDHD2 100.00 0 No comment DES 100.00 0 No comment DGAT2 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.54 0 No comment DMD 99.96 0 No comment DMPK 99.91 0 No comment DMXL2 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 91.94 0 No comment DNM2 99.84 0 No comment DNMT1 99.54 0 No comment DOK7 97.44 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DST 100.00 0 No comment DYNC1H1 99.92 0 No comment DYSF 99.72 0 No comment ECEL1 99.80 0 No comment EGR2 100.00 0 No comment ELOVL4 100.00 0 No comment EMD 98.97 0 No comment ENO3 100.00 0 No comment ENTPD1 100.00 0 No comment ERBB3 100.00 0 No comment ERBB4 100.00 0 No comment ERCC2 98.91 0 No comment ERLIN1 100.00 0 No comment ERLIN2 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment EXOSC8 100.00 0 No comment FA2H 95.71 0 No comment FAM111B 100.00 0 No comment HYCC1 100.00 0 No comment RETREG1 93.72 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBLN5 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FBXO38 100.00 0 No comment FBXO7 99.78 0 No comment FDX2 100.00 0 No comment FGD4 99.98 0 No comment CFH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLAD1 100.00 0 No comment FLNC 100.00 0 No comment FLRT1 100.00 0 No comment FLVCR1 100.00 0 No comment FOXRED1 100.00 0 No comment FUS 100.00 0 No comment FXN 94.27 0 No comment GAA 100.00 0 No comment GABRA3 99.59 0 No comment GAD1 100.00 0 No comment GALC 98.98 0 No comment GAN 98.52 0 No comment GARS1 97.89 0 No comment GART 99.99 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCH1 99.71 0 No comment GDAP1 100.00 0 No comment GFAP 100.00 0 No comment GFER 99.09 0 No comment GFPT1 99.94 0 No comment GGPS1 100.00 0 No comment GJB1 100.00 0 No comment GJB3 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLE1 100.00 0 No comment GLI3 100.00 0 No comment GLTP 100.00 0 No comment GMPPB 100.00 0 No comment GNB4 100.00 0 No comment GNE 100.00 0 No comment GOLGA2 95.41 0 No comment GOSR2 100.00 0 No comment GSN 97.80 0 No comment GYG1 94.40 0 No comment GYS1 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 99.73 0 No comment HEPACAM 99.85 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HINT1 100.00 0 No comment HK1 100.00 0 No comment HNRNPA1 97.19 0 No comment HNRNPA2B1 100.00 0 No comment HNRNPDL 99.98 0 No comment HOXD10 100.00 0 No comment HRAS 100.00 0 No comment HSD17B4 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment HSPD1 95.18 0 No comment HSPG2 99.19 0 No comment IBA57 92.01 0 No comment IFIH1 100.00 0 No comment IFRD1 98.86 0 No comment IGHMBP2 99.38 0 No comment ELP1 100.00 0 No comment INF2 99.92 0 No comment INPP5K 99.31 0 No comment ISCU 98.41 0 No comment CRPPA 95.50 0 No comment ITGA7 100.00 0 No comment KARS1 100.00 0 No comment KBTBD13 99.16 0 No comment KCNA1 100.00 0 No comment KCNE1 100.00 0 No comment KCNE2 100.00 0 No comment KCNE3 100.00 0 No comment KCNH2 98.15 0 No comment KCNJ12 100.00 0 No comment KCNJ2 100.00 0 No comment KCNQ1 100.00 0 No comment WASHC5 100.00 0 No comment KIF1A 98.74 0 No comment KIF1B 99.84 0 No comment KIF1C 100.00 0 No comment KIF21A 98.54 0 No comment KIF5A 100.00 0 No comment KLC4 99.99 0 No comment KLHL40 100.00 0 No comment KLHL41 100.00 0 No comment KLHL9 100.00 0 No comment KY 100.00 0 No comment L1CAM 99.98 0 No comment LAMA2 100.00 0 No comment LAMA5 98.39 0 No comment LAMB2 100.00 0 No comment LAMP2 99.60 0 No comment LARGE1 100.00 0 No comment LDB3 100.00 0 No comment LDHA 99.42 0 No comment LGI4 100.00 0 No comment LIMS2 91.30 0 No comment LITAF 100.00 0 No comment LMNA 99.28 0 No comment LMOD3 100.00 0 No comment LPIN1 99.97 0 No comment CORIN 99.01 0 No comment LRPPRC 98.80 0 No comment LRSAM1 99.33 0 No comment MARS1 100.00 0 No comment MATR3 100.00 0 No comment MB 100.00 0 No comment MED25 100.00 0 No comment MEGF10 99.99 0 No comment MFN2 100.00 0 No comment MLC1 98.57 0 No comment MAP3K20 100.00 0 No comment MARS2 100.00 0 No comment MME 100.00 0 No comment MORC2 100.00 0 No comment MPV17 100.00 0 No comment MPZ 99.80 0 No comment MSTN 100.00 0 No comment MTM1 99.91 0 No comment MTMR14 99.92 0 No comment MTMR2 99.55 0 No comment MTPAP 99.98 0 No comment MUSK 100.00 0 No comment MYBPC1 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 99.85 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH4 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYL1 100.00 0 No comment MYO18B 99.80 0 No comment MYO9A 99.74 0 No comment MYOT 100.00 0 No comment MYPN 99.97 0 No comment NAGLU 96.69 0 No comment NDRG1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 100.00 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NDUFV2 100.00 0 No comment NEB 100.00 0 No comment NEFH 81.41 0 No comment NEFL 100.00 0 No comment NEK1 99.98 0 No comment NGF 100.00 0 No comment NIPA1 92.99 0 No comment NT5C2 100.00 0 No comment NTRK1 98.36 0 No comment NUBPL 99.92 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPTN 100.00 0 No comment ORAI1 92.14 0 No comment P4HA1 100.00 0 No comment PABPN1 100.00 0 No comment PANK2 100.00 0 No comment PDHA1 92.64 0 No comment PDK3 97.80 0 No comment PDYN 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX7 95.60 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 99.97 0 No comment PGAP1 100.00 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHKA1 99.99 0 No comment PHKB 99.97 0 No comment PHOX2A 96.24 0 No comment PHYH 99.81 0 No comment PIEZO2 100.00 0 No comment PIP5K1C 94.98 0 No comment PLA2G6 100.00 0 No comment PLEC 99.26 0 No comment PLEKHG5 100.00 0 No comment PLP1 100.00 0 No comment PMP2 100.00 0 No comment PMP22 100.00 0 No comment PNKP 99.84 0 No comment PNPLA2 98.21 0 No comment PNPLA6 99.95 0 No comment PNPLA8 100.00 0 No comment POGLUT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.53 0 No comment PPP2R2B 100.00 0 No comment PRDM12 81.28 0 No comment PREPL 99.98 0 No comment PRKAG2 95.75 0 No comment PRNP 99.92 0 No comment PRPH 99.62 0 No comment PRPS1 99.91 0 No comment PRUNE1 100.00 0 No comment PRX 99.89 0 No comment PSEN1 100.00 0 No comment HACD1 94.60 0 No comment CAVIN1 100.00 0 No comment PTRH2 99.91 0 No comment PUS1 100.00 0 No comment PYGM 100.00 0 No comment PYROXD1 99.99 0 No comment RAB3GAP2 100.00 0 No comment RAB7A 100.00 0 No comment RAPSN 100.00 0 No comment RBCK1 99.76 0 No comment RBM7 100.00 0 No comment REEP1 100.00 0 No comment REEP2 97.04 0 No comment RNASEH2B 94.58 0 No comment RNASET2 100.00 0 No comment RRM2B 100.00 0 No comment RTN2 99.44 0 No comment RYR1 99.39 0 No comment RYR3 100.00 0 No comment SACS 99.95 0 No comment SBF1 98.38 0 No comment SBF2 99.92 0 No comment SCN10A 100.00 0 No comment SCN11A 99.98 0 No comment SCN4A 100.00 0 No comment SCN5A 100.00 0 No comment SCN9A 99.99 0 No comment SCO1 100.00 0 No comment SCO2 93.85 0 No comment SELENON 84.10 0 No comment SEPTIN9 99.38 0 No comment SETX 100.00 0 No comment SGCA 100.00 0 No comment SGCB 91.50 0 No comment SGCD 100.00 0 No comment SGCE 93.30 0 No comment SGCG 100.00 0 No comment SGPL1 100.00 0 No comment SH3TC2 100.00 0 No comment SIGMAR1 92.51 0 No comment SIL1 99.95 0 No comment SLC12A6 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC18A3 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A4 99.81 0 No comment SLC25A42 99.60 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC33A1 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC5A7 100.00 0 No comment SMCHD1 100.00 0 No comment SMN1 100.00 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SOX10 95.36 0 No comment SPAST 99.83 0 No comment SPEG 98.78 0 No comment SPG11 100.00 0 No comment SPART 100.00 0 No comment SPG21 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN4 98.07 0 No comment SPTLC1 99.27 0 No comment SPTLC2 96.43 0 No comment SQSTM1 94.05 0 No comment SRPK3 98.13 0 No comment STAC3 100.00 0 No comment STIM1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUN1 100.00 0 No comment SURF1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYT2 99.96 0 No comment TACO1 99.66 0 No comment TANGO2 99.94 0 No comment TARDBP 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 97.30 0 No comment TBCE 100.00 0 No comment TBK1 99.99 0 No comment TCAP 100.00 0 No comment TDP1 100.00 0 No comment TECPR2 99.92 0 No comment TFG 99.98 0 No comment TGM6 100.00 0 No comment TH 98.79 0 No comment TIA1 100.00 0 No comment TK2 100.00 0 No comment TMEM43 100.00 0 No comment RXYLT1 100.00 0 No comment TMEM65 90.50 0 No comment MYMK 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 94.05 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TOR1A 99.70 0 No comment TOR1AIP1 100.00 0 No comment TPI1 99.90 0 No comment TPM2 100.00 0 No comment TPM3 98.74 0 No comment TRAPPC11 99.97 0 No comment TRIM2 100.00 0 No comment TRIM32 100.00 0 No comment TRIM54 96.63 0 No comment TRIM63 100.00 0 No comment TRIP4 100.00 0 No comment TRMT5 100.00 0 No comment TRPV4 100.00 0 No comment TSFM 86.80 0 No comment TTBK2 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA4A 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TYMP 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.30 0 No comment UNC13A 99.74 0 No comment USP8 100.00 0 No comment VAMP1 100.00 0 No comment VAPB 99.77 0 No comment VARS2 100.00 0 No comment VCP 97.10 0 No comment VMA21 77.99 0 No comment VPS33B 100.00 0 No comment VPS37A 99.28 0 No comment VRK1 100.00 0 No comment WARS1 100.00 0 No comment WDR45 100.00 0 No comment WDR48 100.00 0 No comment WNK1 100.00 0 No comment XK 99.44 0 No comment YARS1 100.00 0 No comment YARS2 100.00 0 No comment ZC4H2 100.00 0 No comment ZFHX2 100.00 0 No comment ZFR 100.00 0 No comment ZFYVE26 100.00 0 No comment ZFYVE27 100.00 0 No comment -
Neuromuscular disorders (166 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACADVL 0.00 0 No value for column 2 ACTA1 0.00 0 No value for column 2 AGRN 0.00 0 No value for column 2 ALDOA 0.00 0 No value for column 2 ALG14 0.00 0 No value for column 2 ALG2 99.94 0 No comment ALS2 100.00 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ASAH1 99.94 0 No comment ATP7A 100.00 0 No comment ATXN2 89.10 0 No comment B3GALNT2 85.88 0 No comment B4GAT1 100.00 0 No comment BAG3 100.00 0 No comment BICD2 100.00 0 No comment BIN1 100.00 0 No comment BSCL2 100.00 0 No comment C9ORF72 100.00 0 No comment CAV3 100.00 0 No comment CFL2 99.75 0 No comment CHAT 100.00 0 No comment CHKB 99.69 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment CPT2 98.71 0 No comment CRPPA 95.75 0 No comment CRYAB 100.00 0 No comment DAG1 100.00 0 No comment DAO 100.00 0 No comment DCTN1 100.00 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DMD 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 99.34 0 No comment DNM2 99.95 0 No comment DOK7 98.77 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DYNC1H1 100.00 0 No comment DYSF 100.00 0 No comment ECEL1 95.92 0 No comment EMD 99.84 0 No comment ENO3 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FBLN5 100.00 0 No comment FBXO38 100.00 0 No comment FDX2 100.00 0 No comment CFH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FUS 100.00 0 No comment GAA 100.00 0 No comment GARS1 99.53 0 No comment GFPT1 99.98 0 No comment GLE1 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GRN 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 100.00 0 No comment HEXB 99.82 0 No comment HNRNPA1 99.61 0 No comment HNRNPA2B1 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment IGHMBP2 100.00 0 No comment ISCU 99.39 0 No comment KBTBD13 97.91 0 No comment KLHL40 100.00 0 No comment KLHL9 100.00 0 No comment LAMA2 100.00 0 No comment LAMB2 100.00 0 No comment LARGE1 100.00 0 No comment LAS1L 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LPIN1 100.00 0 No comment CORIN 98.90 0 No comment MATR3 100.00 0 No comment MEGF10 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 100.00 0 No comment MYH3 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYOT 100.00 0 No comment NEB 99.99 0 No comment NEFH 84.73 0 No comment OPTN 100.00 0 No comment PABPN1 91.84 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 100.00 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHKA1 100.00 0 No comment PHKB 100.00 0 No comment PLEC 99.82 0 No comment PLEKHG5 99.10 0 No comment POLG 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PREPL 100.00 0 No comment PYGM 100.00 0 No comment QDPR 99.04 0 No comment RAPSN 100.00 0 No comment REEP1 97.37 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SCN4A 100.00 0 No comment SELENON 84.04 0 No comment SETX 100.00 0 No comment SIGMAR1 96.60 0 No comment SIL1 100.00 0 No comment SLC18A3 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 100.00 0 No comment SLC5A7 100.00 0 No comment SMN1 96.55 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SQSTM1 93.68 0 No comment SYT2 100.00 0 No comment TAF15 100.00 0 No comment TARDBP 100.00 0 No comment TFG 100.00 0 No comment TIA1 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 98.58 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TPM2 100.00 0 No comment TPM3 99.55 0 No comment TRPV4 100.00 0 No comment TSEN54 94.23 0 No comment TTN 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.88 0 No comment UNC13A 99.87 0 No comment VAPB 100.00 0 No comment VCP 98.45 0 No comment VEGFA 98.73 0 No comment VRK1 100.00 0 No comment -
Neuromuscular disorders (232 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NEB 88.70 0 NM_001271208.1 SELENON 92.30 0 NM_020451.2 TSEN54 97.70 0 NM_207346.2 DOK7 97.90 0 NM_173660.4 ORAI1 97.90 0 NM_032790.3 CRPPA 98.60 0 NM_001101426.3 PGAM2 98.80 0 NM_000290.3 AGRN 99.00 0 NM_198576.3 HSPB1 99.00 0 NM_001540.4 POMT2 99.00 0 NM_013382.5 CACNA1H 99.10 0 NM_021098.2 RYR1 99.10 0 NM_000540.2 SPTBN4 99.30 0 NM_020971.2 TNNT1 99.50 0 NM_003283.5 HSPG2 99.50 0 NM_005529.6 CAPN3 99.60 0 NM_000070.2 GMPPB 99.60 0 NM_013334.3 ACADVL 99.60 0 NM_000018.3 LAMA5 99.60 0 NM_005560.4 B3GALNT2 99.70 0 NM_152490.4 SCN4A 99.70 0 NM_000334.4 ISCU 99.70 0 NM_213595.3 MATR3 99.70 0 NM_199189.2 SLC16A1 99.80 0 NM_003051.3 COL6A1 99.80 0 NM_001848.2 CHD8 99.80 0 NM_001170629.1 RAPSN 99.80 0 NM_005055.4 CACNA1A 99.80 0 NM_001127221.1 MYH7B 99.80 0 NM_024729.3 DCST2 99.80 0 NM_144622.2 CHRNE 99.80 0 NM_000080.3 SGCG 99.90 0 NM_000231.2 DYSF 99.90 0 NM_003494.3 MYL2 99.90 0 NM_000432.3 CHRNA1 99.90 0 NM_000079.3 ECEL1 99.90 0 NM_004826.3 PNPLA2 99.90 0 NM_020376.3 FXR1 99.90 0 NM_005087.3 TTN 99.90 0 NM_133378.4 PNPLA8 99.90 0 NM_015723.4 ATP2A1 99.90 0 NM_173201.3 COL6A2 99.90 0 NM_001849.3 MYBPC3 99.90 0 NM_000256.3 VCP 99.90 0 NM_007126.4 TRDN 99.90 0 NM_006073.3 GYS1 99.90 0 NM_002103.4 ALG13 99.90 0 NM_001099922.2 MYO18B 99.90 0 NM_032608.6 TK2 99.90 0 NM_004614.4 PHKB 99.90 0 NM_000293.2 SYT2 99.90 0 NM_177402.4 LDHA 99.90 0 NM_005566.3 LMNA 99.90 0 NM_170707.3 CFL2 99.90 0 NM_021914.7 TIA1 100.00 0 NM_022173.3 MYF6 100.00 0 NM_002469.2 KCNJ18 100.00 0 NM_001194958.2 DPM1 100.00 0 NM_003859.2 HNRNPDL 100.00 0 NM_031372.3 TPM2 100.00 0 NM_003289.3 CACNA1S 100.00 0 NM_000069.2 FLNC 100.00 0 NM_001458.4 CHRNB1 100.00 0 NM_000747.2 CCDC78 100.00 0 NM_001031737.2 ETFA 100.00 0 NM_000126.3 DNAJB6 100.00 0 NM_058246.3 DMPK 100.00 0 NM_001081563.2 CORIN 100.00 0 NM_002334.3 HACD1 100.00 0 NM_014241.3 EMD 100.00 0 NM_000117.2 TRIP4 100.00 0 NM_016213.4 MYL1 100.00 0 NM_079420.2 ETFDH 100.00 0 NM_004453.3 FKRP 100.00 0 NM_024301.4 DNA2 100.00 0 NM_001080449.2 PLEC 100.00 0 NM_000445.4 PABPN1 100.00 0 NM_004643.3 SPEG 100.00 0 NM_005876.4 ITGA7 100.00 0 NM_002206.2 POMT1 100.00 0 NM_007171.3 GFPT1 100.00 0 NM_002056.3 SYNE1 100.00 0 NM_033071.3 LPIN1 100.00 0 NM_145693.3 ENO3 100.00 0 NM_053013.3 GOLGA2 100.00 0 NM_004486.4 CHKB 100.00 0 NM_005198.4 AMPD1 100.00 0 NM_000036.2 ACTA1 100.00 0 NM_001100.3 ACVR1 100.00 0 NM_001105.4 HADHB 100.00 0 NM_000183.2 KCNA1 100.00 0 NM_000217.2 ANO5 100.00 0 NM_213599.2 INPP5K 100.00 0 NM_016532.3 SMCHD1 100.00 0 NM_015295.2 ADSS1 100.00 0 NM_199165.2 TRIM63 100.00 0 NM_032588.3 COL13A1 100.00 0 NM_001130103.1 TOP3A 100.00 0 NM_004618.4 COL12A1 100.00 0 NM_004370.5 MYPN 100.00 0 NM_032578.3 SYNE2 100.00 0 NM_182914.2 ACTN2 100.00 0 NM_001103.3 PREPL 100.00 0 NM_006036.4 MYH3 100.00 0 NM_002470.3 SGCB 100.00 0 NM_000232.4 PHKA1 100.00 0 NM_002637.3 CLCN1 100.00 0 NM_000083.2 KBTBD13 100.00 0 NM_001101362.2 CHAT 100.00 0 NM_020549.4 AGL 100.00 0 NM_000642.2 MUSK 100.00 0 NM_005592.3 CASQ1 100.00 0 NM_001231.4 ACADS 100.00 0 NM_000017.3 PYGM 100.00 0 NM_005609.3 GAA 100.00 0 NM_000152.4 TRAPPC11 100.00 0 NM_021942.5 MYO9A 100.00 0 NM_006901.3 COL6A3 100.00 0 NM_004369.3 DMD 100.00 0 NM_004006.2 MYH7 100.00 0 NM_000257.3 MYBPC1 100.00 0 NM_002465.3 RYR3 100.00 0 NM_001036.4 ABHD5 100.00 0 NM_016006.5 ACAD9 100.00 0 NM_014049.4 ACADL 100.00 0 NM_001608.3 ACADM 100.00 0 NM_000016.5 ALDOA 100.00 0 NM_000034.3 ALG14 100.00 0 NM_144988.3 ALG2 100.00 0 NM_033087.3 ATP1A2 100.00 0 NM_000702.3 B4GAT1 100.00 0 NM_006876.2 BAG3 100.00 0 NM_004281.3 BIN1 100.00 0 NM_139343.2 BVES 100.00 0 NM_007073.4 CAV3 100.00 0 NM_033337.2 CAVIN1 100.00 0 NM_012232.5 CHRND 100.00 0 NM_000751.2 CHRNG 100.00 0 NM_005199.4 CNTN1 100.00 0 NM_001843.3 COLQ 100.00 0 NM_005677.3 CPT2 100.00 0 NM_000098.2 CRYAB 100.00 0 NM_001885.2 DAG1 100.00 0 NM_004393.5 DES 100.00 0 NM_001927.3 DNM2 100.00 0 NM_001005360.2 DOLK 100.00 0 NM_014908.3 DPAGT1 100.00 0 NM_001382.3 DPM2 100.00 0 NM_003863.3 DPM3 100.00 0 NM_153741.1 ETFB 100.00 0 NM_001985.2 EXOSC3 100.00 0 NM_016042.3 CFH 100.00 0 NM_001449.4 FKBP14 100.00 0 NM_017946.3 FKTN 100.00 0 NM_001079802.1 FLAD1 100.00 0 NM_025207.4 GBE1 100.00 0 NM_000158.3 GGPS1 100.00 0 NM_001037277.1 GNE 100.00 0 NM_001128227.2 GYG1 100.00 0 NM_004130.3 HADH 100.00 0 NM_005327.4 HADHA 100.00 0 NM_000182.4 HINT1 100.00 0 NM_005340.6 HNRNPA1 100.00 0 NM_031157.3 HNRNPA2B1 100.00 0 NM_031243.2 HRAS 100.00 0 NM_005343.3 HSPB8 100.00 0 NM_014365.2 KCNE3 100.00 0 NM_005472.4 KCNJ2 100.00 0 NM_000891.2 KLHL40 100.00 0 NM_152393.3 KLHL41 100.00 0 NM_006063.2 KLHL9 100.00 0 NM_018847.3 KY 100.00 0 NM_178554.5 LAMA2 100.00 0 NM_000426.3 LAMB2 100.00 0 NM_002292.3 LAMP2 100.00 0 NM_002294.2 LARGE1 100.00 0 NM_004737.6 LDB3 100.00 0 NM_001080116.1 LIMS2 100.00 0 NM_001136037.2 LMOD3 100.00 0 NM_198271.4 MAP3K20 100.00 0 NM_016653.2 MB 100.00 0 NM_005368.2 MEGF10 100.00 0 NM_032446.2 MSTN 100.00 0 NM_005259.2 MTM1 100.00 0 NM_000252.2 MTMR14 100.00 0 NM_022485.4 MYH2 100.00 0 NM_017534.5 MYH8 100.00 0 NM_002472.2 MYMK 100.00 0 NM_001080483.2 MYOT 100.00 0 NM_006790.2 MED12 100.00 0 NM_015560.2 P4HA1 100.00 0 NM_001017962.2 PAX7 100.00 0 NM_002584.2 PDHA1 100.00 0 NM_000284.3 PFKM 100.00 0 NM_000289.5 PGK1 100.00 0 NM_000291.3 PGM1 100.00 0 NM_002633.2 POGLUT1 100.00 0 NM_152305.2 POLG 100.00 0 NM_002693.2 POLG2 100.00 0 NM_007215.3 POMGNT1 100.00 0 NM_017739.3 POMGNT2 100.00 0 NM_032806.5 POMK 100.00 0 NM_032237.4 POPDC3 100.00 0 NM_022361.4 PRKAG2 100.00 0 NM_016203.3 PYROXD1 100.00 0 NM_024854.4 RBCK1 100.00 0 NM_031229.3 RXYLT1 100.00 0 NM_014254.2 SBDS 100.00 0 NM_016038.3 SGCA 100.00 0 NM_000023.3 SGCD 100.00 0 NM_000337.5 SIL1 100.00 0 NM_022464.4 SLC18A3 100.00 0 NM_003055.2 SLC22A5 100.00 0 NM_003060.3 SLC25A20 100.00 0 NM_000387.5 SLC5A7 100.00 0 NM_021815.4 SNAP25 100.00 0 NM_130811.3 SQSTM1 100.00 0 NM_003900.4 STAC3 100.00 0 NM_145064.2 STIM1 100.00 0 NM_003156.3 WWTR1 100.00 0 NM_000116.4 TCAP 100.00 0 NM_003673.3 TMEM126B 100.00 0 NM_018480.5 TMEM43 100.00 0 NM_024334.2 TNNI2 100.00 0 NM_003282.3 TNNT3 100.00 0 NM_006757.3 TNPO3 100.00 0 NM_012470.3 TOR1AIP1 100.00 0 NM_001267578.1 TPM3 100.00 0 NM_152263.3 TRIM32 100.00 0 NM_012210.3 UNC45B 100.00 0 NM_173167.3 VAMP1 100.00 0 NM_014231.4 VMA21 100.00 0 NM_001017980.3 -
Neuromuscular disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.98 1 ACAD9 100.00 1 ACADL 99.11 1 ACADM 96.14 1 ACADS 99.99 1 ACADVL 100.00 1 ACTA1 99.99 1 ACTN2 99.99 1 ACVR1 99.94 1 ADCY6 99.98 1 ADGRG6 99.91 1 ADSS1 99.99 1 AGL 97.67 1 AGRN 99.99 1 ALDOA 100.00 1 ALG13 99.44 1 ALG14 99.34 1 ALG2 100.00 1 AMPD1 98.94 1 ANO5 99.85 1 APOO 99.69 1 ASAH1 99.90 1 ASCC1 90.99 1 ASPH 99.92 1 ATP2A1 99.83 1 B3GALNT2 92.79 1 B4GAT1 100.00 1 BAG3 100.00 1 BET1 99.38 1 BIN1 99.98 1 BSCL2 99.99 1 BVES 99.83 1 CACNA1H 100.00 1 CACNA1S 99.96 1 CAPN3 99.99 1 CASQ1 99.62 1 CAV3 100.00 1 CAVIN1 100.00 1 CCDC78 100.00 1 CFL2 99.67 1 CHAT 99.74 1 CHCHD10 100.00 1 CHKB 100.00 1 CHRNA1 99.82 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 100.00 1 CHRNG 100.00 1 CLCN1 100.00 1 CLN3 99.92 1 CLPP 99.99 1 CNTN1 99.35 1 COL12A1 99.85 1 COL13A1 99.95 1 COL4A1 99.99 1 COL6A1 99.99 1 COL6A2 100.00 1 COL6A3 99.99 1 COL9A3 99.99 1 COLQ 99.98 1 CPT2 99.65 1 CRPPA 99.98 1 CRYAB 100.00 1 DAG1 100.00 1 DES 100.00 1 DGUOK 99.93 1 DHX16 99.98 1 DMD 99.76 1 DMPK 99.93 1 DNAJB6 99.97 1 DNM2 99.99 1 DNMT3B 99.98 1 DOK7 99.97 1 DOLK 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DPM2 100.00 1 DPM3 99.98 1 DYSF 99.95 1 ECEL1 100.00 1 EMD 99.93 1 ENO3 100.00 1 EPG5 99.95 1 ETFA 99.88 1 ETFB 100.00 1 ETFDH 99.82 1 FAM111B 99.98 1 FDX2 99.99 1 CFH 99.97 1 FKBP14 99.97 1 FKRP 100.00 1 FKTN 99.94 1 FLAD1 99.98 1 FLNC 99.99 1 FXR1 99.82 1 GAA 100.00 1 GBE1 99.73 1 GFER 100.00 1 GFPT1 99.79 1 GGPS1 99.95 1 GLDN 99.98 1 GLE1 99.99 1 GMPPB 100.00 1 GNE 99.99 1 GOLGA2 100.00 1 GOSR2 98.92 1 GYG1 99.85 1 GYS1 99.98 1 HACD1 99.98 1 HADHA 99.98 1 HADHB 99.82 1 HEXB 99.91 1 HNRNPA1 62.92 1 HNRNPA2B1 99.90 1 HNRNPDL 99.98 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HTRA2 99.99 1 INPP5K 99.94 1 ISCU 99.74 1 ITGA7 99.87 1 KBTBD13 100.00 1 KLHL40 99.96 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 99.97 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMB2 99.99 1 LAMP2 98.95 1 LARGE1 100.00 1 LARS2 99.96 1 LAS1L 99.97 1 LDB3 99.91 1 LDHA 99.94 1 LGI4 99.98 1 LIMS2 99.97 1 LMNA 99.96 1 LMOD3 99.91 1 LOXL4 99.92 1 LPIN1 99.96 1 LRIF1 99.82 1 CORIN 99.89 1 MAP3K20 99.84 1 MB 99.99 1 MCOLN1 100.00 1 MEGF10 99.91 1 MET 99.97 1 MICU1 99.56 1 MPDU1 99.97 1 MRPS25 99.97 1 MSTN 99.96 1 MSTO1 76.34 1 MTM1 99.76 1 MTMR14 99.99 1 MUSK 99.93 1 MYBPC1 99.77 1 MYBPC3 99.98 1 MYF5 99.99 1 MYH7B 99.98 1 MYH2 99.98 1 MYH3 99.99 1 MYH7 99.99 1 MYH8 100.00 1 MYL1 99.75 1 MYL2 99.99 1 MYMK 99.88 1 MYO18B 99.98 1 MYO9A 99.93 1 MYOT 99.93 1 MYPN 99.88 1 NEB 87.33 1 NEFL 100.00 1 ORAI1 99.63 1 PABPN1 99.99 1 PAX7 99.83 1 PEX6 99.99 1 PFKM 99.57 1 PGAM2 100.00 1 PGK1 99.93 1 PGM1 96.77 1 PHKA1 99.84 1 PHKB 99.69 1 PIEZO2 98.45 1 PLEC 100.00 1 PNPLA2 100.00 1 PNPLA8 99.92 1 POGLUT1 99.99 1 POLG 100.00 1 POLG2 99.51 1 POMGNT1 99.69 1 POMGNT2 100.00 1 POMK 100.00 1 POMT1 99.96 1 POMT2 99.98 1 POPDC3 99.96 1 PREPL 99.63 1 PRKAG2 99.96 1 PTRH2 99.99 1 PUS1 100.00 1 PYGM 99.96 1 PYROXD1 99.77 1 RAPSN 99.97 1 RBCK1 100.00 1 RRM2B 99.97 1 RXYLT1 99.48 1 RYR1 99.97 1 RYR3 99.98 1 SCN4A 99.98 1 SELENON 93.61 1 SGCA 100.00 1 SGCB 99.95 1 SGCD 100.00 1 SGCG 99.99 1 SIL1 99.95 1 SLC16A1 99.26 1 SLC18A3 99.99 1 SLC22A5 99.99 1 SLC25A1 99.93 1 SLC25A20 100.00 1 SLC25A4 100.00 1 SLC25A42 99.99 1 SLC5A7 99.57 1 SMCHD1 99.83 1 SMPX 99.80 1 SNAP25 99.89 1 SPEG 99.99 1 SPTBN4 99.91 1 SQSTM1 100.00 1 STAC3 99.91 1 STIM1 99.99 1 SUCLA2 99.96 1 SVIL 99.98 1 SYNE1 99.95 1 SYNE2 99.95 1 SYT2 99.93 1 TARDBP 100.00 1 TCAP 100.00 1 TFAM 99.24 1 TIA1 99.72 1 TIMM22 100.00 1 TK2 99.96 1 TMEM43 99.96 1 TMEM65 99.93 1 TNNC2 99.99 1 TNNI2 99.99 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.96 1 TNXB 90.86 1 TOR1AIP1 98.45 1 TPM2 100.00 1 TPM3 83.21 1 TRAPPC11 99.93 1 TRIM32 100.00 1 TRIM54 89.88 1 TRIP4 99.97 1 TSEN54 100.00 1 TSFM 100.00 1 TTN 99.15 1 TYMP 99.87 1 UNC45B 100.00 1 VAMP1 100.00 1 VCP 99.99 1 VMA21 99.90 1 VPS33B 99.95 1 YARS2 99.93 1 ZBTB42 100.00 1 ZC4H2 99.98 1 -
Neuropathy (148 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ABHD12 100.00 1 NM_001042472.3 AIFM1 100.00 1 NM_004208.4 APTX 100.00 1 NM_001195248.2 ARHGEF10 100.00 1 NM_014629.4 ATL1 100.00 1 NM_015915.5 ATP1A1 100.00 1 NM_000701.8 ATP7A 100.00 1 NM_000052.7 BICD2 100.00 1 NM_001003800.2 BSCL2 100.00 1 NM_001122955.3 MTRFR 100.00 1 NM_152269.5 COX6A1 100.00 1 NM_004373.4 CTDP1 100.00 1 NM_004715.5 DCTN1 100.00 1 NM_004082.4 DHTKD1 100.00 1 NM_018706.7 DNAJB2 100.00 1 NM_006736.6 DNM2 100.00 1 NM_001005361.3 DNMT1 99.93 1 NM_001130823.3 DST 100.00 1 NM_001144770.2 DYNC1H1 100.00 1 NM_001376.5 EGR2 100.00 1 NM_000399.5 ELP1 100.00 1 NM_003640.5 FBLN5 100.00 1 NM_006329.3 FBXO38 100.00 1 NM_205836.3 FGD4 100.00 1 NM_001304480.1 FIG4 100.00 1 NM_014845.6 GAN 100.00 1 NM_022041.3 GARS1 100.00 1 NM_002047.4 GDAP1 100.00 1 NM_018972.4 GJB1 100.00 1 NM_000166.6 GJB3 100.00 1 NM_024009.3 GNB4 100.00 1 NM_021629.4 HARS1 100.00 1 NM_002109.6 HINT1 100.00 1 NM_005340.7 HK1 100.00 1 NM_001358263.1 HOXD10 100.00 1 NM_002148.4 HSPB1 100.00 1 NM_001540.5 HSPB3 100.00 1 NM_006308.3 HSPB8 100.00 1 NM_014365.3 IFRD1 100.00 1 NM_001007245.2 IGHMBP2 100.00 1 NM_002180.3 INF2 99.00 1 NM_022489.4 KARS1 100.00 1 NM_001130089.1 KIF1A 100.00 1 NM_001244008.1 KIF1B 100.00 1 NM_015074.3 KIF5A 100.00 1 NM_004984.4 LITAF 100.00 1 NM_001136472.1 LMNA 100.00 1 NM_170707.4 LRSAM1 100.00 1 NM_001005373.3 MARS1 100.00 1 NM_004990.4 MED25 100.00 1 NM_030973.3 MFN2 100.00 1 NM_014874.4 MME 100.00 1 NM_007289.4 MORC2 100.00 1 NM_001303256.3 MPZ 100.00 1 NM_000530.8 MTMR2 100.00 1 NM_016156.6 MYH14 100.00 1 NM_001145809.2 NAGLU 100.00 1 NM_000263.4 NDRG1 100.00 1 NM_006096.4 NEFH 100.00 1 NM_021076.4 NEFL 100.00 1 NM_006158.5 NGF 100.00 1 NM_002506.3 NTRK1 100.00 1 NM_002529.3 PDK3 100.00 1 NM_001142386.3 PEX1 100.00 1 NM_000466.3 PEX7 100.00 1 NM_000288.4 PHYH 100.00 1 NM_006214.4 PLEKHG5 100.00 1 NM_001265592.1 PMP22 100.00 1 NM_000304.4 POLG 100.00 1 NM_001126131.2 PRDM12 98.36 1 NM_021619.3 PRPS1 100.00 1 NM_002764.4 PRX 100.00 1 NM_181882.3 RAB7A 100.00 1 NM_004637.6 REEP1 100.00 1 NM_001371279.1 RETREG1 100.00 1 NM_001034850.2 SBF1 100.00 1 NM_002972.4 SBF2 100.00 1 NM_030962.3 SCN11A 100.00 1 NM_001349253.2 SCN9A 100.00 1 NM_001365536.1 SCO2 100.00 1 NM_005138.3 SETX 100.00 1 NM_015046.7 SH3TC2 100.00 1 NM_024577.4 SLC12A6 100.00 1 NM_001365088.1 SLC5A7 100.00 1 NM_021815.5 SOX10 100.00 1 NM_006941.4 SPG11 100.00 1 NM_025137.4 SPTLC1 100.00 1 NM_006415.4 SPTLC2 100.00 1 NM_004863.3 TDP1 100.00 1 NM_018319.4 TECPR2 100.00 1 NM_014844.5 TFG 100.00 1 NM_006070.6 TRIM2 100.00 1 NM_015271.5 TRPV4 100.00 1 NM_021625.5 TTR 100.00 1 NM_000371.4 TUBB3 100.00 1 NM_006086.4 TYMP 100.00 1 NM_001257989.1 VCP 100.00 1 NM_007126.5 WNK1 100.00 1 NM_018979.4 YARS1 100.00 1 NM_003680.3 AAAS 100.00 1 NM_015665.6 ALS2 100.00 1 NM_020919.4 ANG 100.00 1 NM_001145.4 ANXA11 100.00 1 NM_145868.2 ATL3 100.00 1 NM_015459.5 CNTNAP1 100.00 1 NM_003632.3 COA8 100.00 1 NM_001370595.1 COL4A1 100.00 1 NM_001845.6 DCAF8 100.00 1 NM_015726.4 DCX 100.00 1 NM_001195553.2 ERBB4 100.00 1 NM_005235.3 FUS 100.00 1 NM_004960.4 GBF1 100.00 1 NM_004193.3 GCH1 100.00 1 NM_000161.3 GLA 100.00 1 NM_000169.3 HTRA1 100.00 1 NM_002775.5 KLC2 100.00 1 NM_001134775.1 MATR3 100.00 1 NM_018834.6 MCM3AP 100.00 1 NM_003906.5 MPV17 100.00 1 NM_002437.5 NEK1 100.00 1 NM_001199397.3 NFASC 100.00 1 NM_001005388.2 OPTN 100.00 1 NM_001008212.2 PDXK 100.00 1 NM_003681.5 PFN1 100.00 1 NM_005022.4 PMP2 100.00 1 NM_002677.5 PNKP 100.00 1 NM_007254.4 PRPH 100.00 1 NM_006262.4 PTRH2 100.00 1 NM_016077.5 SCN10A 100.00 1 NM_006514.3 SEPTIN9 100.00 1 NM_001113491.2 SGPL1 100.00 1 NM_003901.4 SIGMAR1 100.00 1 NM_005866.4 SLC25A46 100.00 1 NM_138773.4 SMN1 6.96 1 NM_000344.3 SOD1 100.00 1 NM_000454.5 SORD 94.98 1 NM_003104.6 SQSTM1 100.00 1 NM_003900.5 SURF1 100.00 1 NM_003172.4 SYT2 100.00 1 NM_177402.5 TARDBP 100.00 1 NM_007375.4 TIA1 100.00 1 NM_022173.4 TRPA1 100.00 1 NM_007332.3 TUBA1A 100.00 1 NM_006009.4 TUBA4A 100.00 1 NM_006000.3 UBQLN2 100.00 1 NM_013444.3 VAPB 100.00 1 NM_004738.5 WARS1 100.00 1 NM_004184.4 -
Neuropathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.94 1 ABCA1 99.92 1 ABHD12 99.11 1 ADPRS 100.00 1 AGTPBP1 99.40 1 AIFM1 99.43 1 ARHGEF10 100.00 1 ARSA 100.00 1 ATL1 99.95 1 ATL3 99.86 1 ATM 99.83 1 ATP1A1 99.94 1 ATP7A 99.35 1 B4GALNT1 99.95 1 BAG3 100.00 1 BICD2 100.00 1 BSCL2 100.00 1 CADM3 99.94 1 CD59 99.97 1 CFAP276 99.73 1 CHCHD10 97.06 1 CLTCL1 99.98 1 CNTNAP1 99.80 1 COA7 100.00 1 COX20 99.40 1 COX6A1 99.99 1 CTDP1 98.02 1 CTNNB1 99.98 1 CYP27A1 99.96 1 DARS2 99.86 1 DCAF8 99.98 1 DCTN1 99.95 1 DGAT2 99.99 1 DGUOK 99.76 1 DHTKD1 99.88 1 DNAJB2 100.00 1 DNAJC3 99.58 1 DNM2 99.96 1 DNMT1 99.88 1 DRP2 99.45 1 DST 99.92 1 DYNC1H1 99.97 1 EGR2 100.00 1 ELP1 99.96 1 ETFDH 99.76 1 FBLN5 92.79 1 FBXO38 99.93 1 FGD4 99.89 1 FIG4 99.94 1 FLVCR1 99.93 1 FXN 97.92 1 GALC 99.88 1 GAN 99.84 1 GARS1 99.86 1 GBA2 99.97 1 GBE1 99.84 1 GBF1 99.95 1 GDAP1 99.93 1 GJB1 99.99 1 GJB3 100.00 1 GJC2 96.12 1 GLA 99.64 1 GNB4 99.95 1 GSN 97.83 1 HADHA 99.96 1 HADHB 99.97 1 HARS1 99.99 1 HINT1 99.96 1 HK1 96.86 1 HNRNPA1 100.00 1 HOXD10 100.00 1 HSPB1 99.83 1 HSPB3 100.00 1 HSPB8 99.90 1 IARS2 99.96 1 IFRD1 99.96 1 IGHMBP2 99.99 1 INF2 97.15 1 ITPR3 99.88 1 JAG1 99.92 1 KIF1A 99.96 1 KIF5A 99.93 1 LITAF 100.00 1 LMNA 99.98 1 LRSAM1 99.97 1 LYST 99.92 1 MCM3AP 99.96 1 MFN2 99.96 1 MMACHC 99.99 1 MME 97.69 1 MORC2 99.98 1 MPV17 100.00 1 MPZ 99.97 1 MTMR2 99.98 1 MTRFR 99.85 1 MYH14 99.79 1 NAGA 99.99 1 NAGLU 98.00 1 NARS1 99.74 1 NDRG1 100.00 1 NEFH 98.77 1 NEFL 99.99 1 NGF 99.99 1 NTRK1 99.67 1 PCYT2 97.60 1 PDK3 98.86 1 PEX7 99.87 1 PHYH 99.65 1 PIEZO2 99.88 1 PLD3 99.99 1 PLEKHG5 99.66 1 PLP1 99.93 1 PMM2 99.94 1 PMP2 99.95 1 PMP22 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 POLG 99.98 1 POLR3B 99.88 1 PPOX 99.94 1 PRDM12 99.60 1 PRKCG 99.90 1 PRNP 100.00 1 PRPS1 99.79 1 PRX 99.94 1 PTEN 99.15 1 PTPN11 99.91 1 PTRH2 99.97 1 RAB7A 99.94 1 REEP1 99.99 1 RETREG1 99.92 1 RFC1 99.44 1 SACS 99.98 1 SBF1 99.97 1 SBF2 99.92 1 SCARB2 99.94 1 SCN10A 99.97 1 SCN11A 99.77 1 SCN9A 99.96 1 SCO2 100.00 1 SCYL1 99.64 1 SEPTIN9 99.94 1 SETX 99.96 1 SH3TC2 99.98 1 SIGMAR1 99.99 1 SLC12A6 99.88 1 SLC25A19 99.99 1 SLC25A46 99.93 1 SLC52A2 100.00 1 SLC52A3 100.00 1 SLC5A7 99.97 1 SORD 92.86 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 99.94 1 SPG7 99.99 1 SPTAN1 99.97 1 SPTBN4 99.19 1 SPTLC1 99.98 1 SPTLC2 99.94 1 SPTLC3 99.94 1 SURF1 97.64 1 SYT2 99.89 1 TBCE 99.69 1 TBCK 99.76 1 TECPR2 99.90 1 TFG 99.34 1 TRIM2 99.99 1 TRPV4 99.96 1 TTPA 99.97 1 TTR 100.00 1 TUBB3 100.00 1 TWNK 100.00 1 UCHL1 99.99 1 VAPB 99.94 1 VCP 99.92 1 VPS13A 99.60 1 VRK1 99.94 1 VWA1 91.35 1 WARS1 99.79 1 WNK1 99.94 1 XRCC1 99.94 1 YARS1 99.96 1 ZFHX2 99.98 1 ZFYVE26 99.96 1 -
Neuropathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.99 1 ABCA1 99.92 1 ABHD12 99.98 1 AGTPBP1 99.68 1 AGXT 100.00 1 AHNAK2 97.58 1 AIFM1 99.92 1 AMACR 100.00 1 AP1S1 99.49 1 APOA1 100.00 1 APTX 99.92 1 AR 99.76 1 ARHGEF10 100.00 1 ARSA 99.99 1 ASAH1 99.90 1 ASCC1 90.99 1 ATAD3A 99.62 1 ATL1 99.95 1 ATL3 99.75 1 ATM 99.83 1 ATP1A1 98.41 1 ATP7A 99.87 1 B4GALNT1 99.97 1 BAG3 100.00 1 BCKDHB 99.73 1 BICD2 99.99 1 BSCL2 99.99 1 CFAP276 98.35 1 CCT5 99.99 1 CD59 100.00 1 CHCHD10 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COX6A1 99.98 1 CPOX 99.99 1 CTDP1 99.97 1 CYP27A1 100.00 1 DARS2 98.31 1 DCAF8 99.83 1 DCTN1 99.98 1 DEGS1 99.99 1 DGAT2 99.99 1 DGUOK 99.93 1 DHTKD1 99.95 1 DNAJB2 99.97 1 DNAJC3 99.92 1 DNM2 99.99 1 DNMT1 99.13 1 DRP2 99.94 1 DST 99.52 1 DYNC1H1 99.99 1 EGR2 100.00 1 ELP1 99.96 1 ERCC6 99.60 1 ERCC8 99.79 1 ETFDH 99.82 1 EXOSC3 100.00 1 EXOSC8 99.91 1 EXOSC9 94.91 1 FANCA 99.98 1 HYCC1 99.81 1 FBLN5 100.00 1 FBXO38 99.96 1 FGD4 99.87 1 FIG4 99.83 1 FLVCR1 99.91 1 FXN 99.96 1 GALC 99.92 1 GAN 99.98 1 GARS1 99.93 1 GBA2 99.99 1 GBF1 99.97 1 GDAP1 99.98 1 GJB1 100.00 1 GJC2 100.00 1 GLA 99.90 1 GNB4 99.96 1 GNE 99.99 1 GSN 99.93 1 HADHA 99.98 1 HADHB 99.82 1 HARS1 99.96 1 HINT1 99.86 1 HK1 99.97 1 HMBS 99.97 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 IARS2 99.77 1 IGHMBP2 99.92 1 INF2 99.99 1 ITPR3 99.98 1 JAG1 100.00 1 KARS1 99.98 1 KCNA2 99.99 1 KIF1A 99.96 1 KIF1B 99.97 1 KIF26B 100.00 1 KIF5A 99.91 1 LITAF 83.22 1 LMNA 99.96 1 LRSAM1 99.99 1 LYST 99.87 1 MARS1 99.97 1 MCM3AP 99.98 1 MFN2 99.98 1 MICAL1 99.99 1 MMACHC 99.98 1 MME 97.17 1 MORC2 100.00 1 MPV17 99.98 1 MPZ 99.99 1 MTMR2 99.94 1 MTRFR 99.87 1 MTTP 99.92 1 MYH7B 99.98 1 NAGA 100.00 1 NAGLU 100.00 1 NDRG1 99.99 1 NEFH 100.00 1 NEFL 100.00 1 NGF 100.00 1 NMNAT2 99.79 1 NTRK1 99.86 1 MED12 99.95 1 OPA3 100.00 1 PDHA1 99.04 1 PDK3 99.49 1 PDYN 100.00 1 PEX10 100.00 1 PEX7 99.72 1 PHYH 100.00 1 PLEKHG5 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMP2 99.93 1 PMP22 100.00 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLG2 99.51 1 POLR3A 99.97 1 HCRT 99.85 1 PRDM12 100.00 1 PRKCG 99.99 1 PRPS1 99.95 1 PRUNE1 99.85 1 PRX 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 PTRH2 99.99 1 RAB7A 100.00 1 RBM7 99.99 1 REEP1 99.97 1 RETREG1 99.99 1 SACS 99.97 1 SBF1 99.99 1 SBF2 99.77 1 SCARB2 99.99 1 SCN10A 99.99 1 SCN11A 99.94 1 SCN9A 99.83 1 SCO2 100.00 1 SCYL1 100.00 1 SEPTIN9 99.99 1 SETX 99.97 1 SGPL1 99.95 1 SH3TC2 100.00 1 SIGMAR1 99.99 1 SLC12A6 99.98 1 SLC25A19 99.99 1 SLC25A21 99.98 1 SLC25A46 99.88 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC5A7 99.57 1 SMN1 7.60 1 SMN2 6.68 1 SORD 85.52 1 SOX10 100.00 1 SPAST 99.77 1 SPG11 99.89 1 SPG7 99.99 1 SPTAN1 99.96 1 SPTBN4 99.91 1 SPTLC1 99.74 1 SPTLC2 99.95 1 SUCLA2 99.96 1 SURF1 100.00 1 TFG 98.68 1 TRIM2 99.98 1 TRIP4 99.97 1 TRPA1 99.67 1 TRPV4 100.00 1 TTPA 99.88 1 TTR 100.00 1 TUBB3 100.00 1 TWNK 100.00 1 TYMP 99.87 1 UBA1 99.93 1 VAPB 100.00 1 VCP 99.99 1 VPS13A 99.68 1 VRK1 99.98 1 WARS1 99.97 1 WNK1 99.98 1 XK 99.98 1 XPA 99.68 1 XRCC1 99.96 1 YARS1 99.29 1 ZFYVE26 100.00 1