Belgian Genetic Tests database
Neuromuscular disorders (261 genes) - KUL
| Full name: |
Neuromuscular disorders (261 genes) - KUL
|
| Version number: |
Neuromuscular Disorders panel versie 2-2022
|
| Laboratory: | |
| Created: |
03 Jul 2019 - 09:39
|
| Changed: |
19 Apr 2024 - 08:58
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ABHD5 | 100.00 | 0 | NM_016006.6 |
| ACAD9 | 100.00 | 0 | NM_014049.5 |
| ACADL | 100.00 | 0 | NM_001608.4 |
| ACADM | 99.94 | 0 | NM_000016.6 |
| ACADS | 100.00 | 0 | NM_000017.4 |
| ACADVL | 100.00 | 0 | NM_000018.4 |
| ACTA1 | 100.00 | 0 | NM_001100.4 |
| ACTN2 | 100.00 | 0 | NM_001103.4 |
| ACVR1 | 99.98 | 0 | NM_001105.5 |
| ADSS1 | 100.00 | 0 | NM_199165.2 |
| AGL | 100.00 | 0 | NM_000642.3 |
| AGRN | 99.43 | 0 | NM_198576.4 |
| ALDOA | 100.00 | 0 | NM_184041.5 |
| ALG13 | 99.95 | 0 | NM_001099922.3 |
| ALG14 | 99.98 | 0 | NM_144988.4 |
| ALG2 | 100.00 | 0 | NM_033087.4 |
| AMPD1 | 99.98 | 0 | NM_000036.3 |
| ANO5 | 99.97 | 0 | NM_213599.3 |
| APOO | 99.98 | 0 | NM_024122.5 |
| ATP1A2 | 99.99 | 0 | NM_000702.4 |
| ATP2A1 | 100.00 | 0 | NM_173201.5 |
| B3GALNT2 | 99.70 | 0 | NM_152490.5 |
| B4GAT1 | 100.00 | 0 | NM_006876.3 |
| BAG3 | 99.98 | 0 | NM_004281.4 |
| BIN1 | 99.99 | 0 | NM_139343.3 |
| BVES | 99.98 | 0 | NM_007073.4 |
| CACNA1A | 99.99 | 0 | NM_001127221.2 |
| CACNA1H | 99.50 | 0 | NM_021098.3 |
| CACNA1S | 99.98 | 0 | NM_000069.3 |
| CAPN3 | 100.00 | 0 | NM_000070.3 |
| CASQ1 | 99.99 | 0 | NM_001231.5 |
| CAV3 | 99.99 | 0 | NM_033337.3 |
| CAVIN1 | 99.98 | 0 | NM_012232.6 |
| CCDC78 | 100.00 | 0 | NM_001031737.3 |
| CFL2 | 99.98 | 0 | NM_021914.8 |
| CHAT | 99.91 | 0 | NM_020549.5 |
| CHD8 | 99.98 | 0 | NM_001170629.2 |
| CHKB | 99.99 | 0 | NM_005198.5 |
| CHRNA1 | 99.98 | 0 | NM_000079.4 |
| CHRNB1 | 99.99 | 0 | NM_000747.3 |
| CHRND | 99.98 | 0 | NM_000751.3 |
| CHRNE | 99.99 | 0 | NM_000080.4 |
| CHRNG | 99.99 | 0 | NM_005199.5 |
| CLCN1 | 99.99 | 0 | NM_000083.3 |
| CNTN1 | 100.00 | 0 | NM_001843.4 |
| COL12A1 | 99.99 | 0 | NM_004370.6 |
| COL13A1 | 99.98 | 0 | NM_001130103.2 |
| COL6A1 | 99.97 | 0 | NM_001848.3 |
| COL6A2 | 100.00 | 0 | NM_001849.4 |
| COL6A3 | 99.99 | 0 | NM_004369.4 |
| COLQ | 100.00 | 0 | NM_005677.4 |
| COX16 | 100.00 | 0 | NM_016468.7 |
| CPT2 | 100.00 | 0 | NM_000098.3 |
| CRPPA | 99.65 | 0 | NM_001101426.4 |
| CRYAB | 100.00 | 0 | NM_001885.3 |
| DAG1 | 100.00 | 0 | NM_004393.6 |
| DCST2 | 99.98 | 0 | NM_144622.3 |
| DES | 100.00 | 0 | NM_001927.4 |
| DMD | 99.97 | 0 | NM_004006.3 |
| DMPK | 100.00 | 0 | NM_001081563.2 |
| DNA2 | 99.98 | 0 | NM_001080449.3 |
| DNAJB4 | 100.00 | 0 | NM_007034.5 |
| DNAJB6 | 100.00 | 0 | NM_058246.4 |
| DNM2 | 99.98 | 0 | NM_001005360.3 |
| DNMT3B | 99.99 | 0 | NM_006892.4 |
| DOK7 | 99.76 | 0 | NM_173660.5 |
| DOLK | 100.00 | 0 | NM_014908.4 |
| DPAGT1 | 99.99 | 0 | NM_001382.4 |
| DPM1 | 99.97 | 0 | NM_003859.3 |
| DPM2 | 99.94 | 0 | NM_003863.4 |
| DPM3 | 100.00 | 0 | NM_153741.2 |
| DYSF | 99.99 | 0 | NM_003494.4 |
| ECEL1 | 99.88 | 0 | NM_004826.4 |
| EMD | 99.99 | 0 | NM_000117.3 |
| ENO3 | 100.00 | 0 | NM_053013.4 |
| EPG5 | 99.99 | 0 | NM_020964.3 |
| ETFA | 99.98 | 0 | NM_000126.4 |
| ETFB | 99.98 | 0 | NM_001985.3 |
| ETFDH | 99.98 | 0 | NM_004453.4 |
| EXOSC3 | 99.99 | 0 | NM_016042.4 |
| FHL1 | 100.00 | 0 | NM_001449.5 |
| FKBP14 | 100.00 | 0 | NM_017946.4 |
| FKRP | 99.87 | 0 | NM_024301.5 |
| FKTN | 100.00 | 0 | NM_001079802.2 |
| FLAD1 | 100.00 | 0 | NM_025207.5 |
| FLNC | 100.00 | 0 | NM_001458.5 |
| FXR1 | 99.90 | 0 | NM_005087.4 |
| GAA | 100.00 | 0 | NM_000152.5 |
| GBE1 | 100.00 | 0 | NM_000158.4 |
| GFER | 99.92 | 0 | NM_005262.3 |
| GFPT1 | 100.00 | 0 | NM_001244710.2 |
| GGPS1 | 100.00 | 0 | NM_001037277.1 |
| GMPPB | 99.99 | 0 | NM_013334.4 |
| GNE | 99.98 | 0 | NM_001128227.3 |
| GOLGA2 | 99.93 | 0 | NM_004486.6 |
| GOSR2 | 99.94 | 0 | NM_004287.5 |
| GYG1 | 99.99 | 0 | NM_004130.4 |
| GYS1 | 99.99 | 0 | NM_002103.5 |
| HACD1 | 99.95 | 0 | NM_014241.4 |
| HADH | 100.00 | 0 | NM_005327.7 |
| HADHA | 100.00 | 0 | NM_000182.5 |
| HADHB | 100.00 | 0 | NM_000183.3 |
| HINT1 | 100.00 | 0 | NM_005340.7 |
| HNRNPA1 | 99.99 | 0 | NM_031157.4 |
| HNRNPA2B1 | 99.99 | 0 | NM_031243.3 |
| HNRNPDL | 99.99 | 0 | NM_031372.4 |
| HRAS | 100.00 | 0 | NM_005343.4 |
| HSPB1 | 99.96 | 0 | NM_001540.5 |
| HSPB8 | 100.00 | 0 | NM_014365.3 |
| HSPG2 | 99.61 | 0 | NM_005529.7 |
| INPP5K | 100.00 | 0 | NM_016532.4 |
| ISCU | 99.96 | 0 | NM_213595.4 |
| ITGA7 | 100.00 | 0 | NM_002206.3 |
| JAG2 | 98.39 | 0 | NM_002226.5 |
| KBTBD13 | 100.00 | 0 | NM_001101362.3 |
| KCNA1 | 100.00 | 0 | NM_000217.3 |
| KCNE3 | 100.00 | 0 | NM_005472.5 |
| KCNJ18 | 99.75 | 0 | NM_001194958.2 |
| KCNJ2 | 100.00 | 0 | NM_000891.3 |
| KCNJ5 | 99.98 | 0 | NM_000890.5 |
| KLHL40 | 100.00 | 0 | NM_152393.4 |
| KLHL41 | 99.99 | 0 | NM_006063.3 |
| KLHL9 | 100.00 | 0 | NM_018847.4 |
| KY | 100.00 | 0 | NM_178554.6 |
| LAMA2 | 100.00 | 0 | NM_000426.4 |
| LAMA5 | 99.80 | 0 | NM_005560.6 |
| LAMB2 | 100.00 | 0 | NM_002292.4 |
| LAMP2 | 100.00 | 0 | NM_002294.3 |
| LARGE1 | 100.00 | 0 | NM_004737.7 |
| LDB3 | 100.00 | 0 | NM_001080116.1 |
| LDHA | 100.00 | 0 | NM_005566.4 |
| LETM1 | 99.31 | 0 | NM_012318.3 |
| LIG3 | 100.00 | 0 | NM_013975.4 |
| LIMS2 | 100.00 | 0 | NM_001136037.4 |
| LMNA | 99.99 | 0 | NM_170707.4 |
| LMOD3 | 100.00 | 0 | NM_198271.5 |
| LPIN1 | 99.98 | 0 | NM_145693.4 |
| LRIF1 | 100.00 | 0 | NM_018372.4 |
| LRP4 | 99.98 | 0 | NM_002334.4 |
| MAP3K20 | 100.00 | 0 | NM_016653.3 |
| MATR3 | 100.00 | 0 | NM_199189.3 |
| MB | 100.00 | 0 | NM_005368.3 |
| MCOLN1 | 99.95 | 0 | NM_020533.3 |
| MEGF10 | 99.99 | 0 | NM_032446.3 |
| MICU1 | 100.00 | 0 | NM_006077.4 |
| MSTN | 100.00 | 0 | NM_005259.3 |
| MSTO1 | 92.48 | 0 | NM_018116.4 |
| MTM1 | 99.99 | 0 | NM_000252.3 |
| MTMR14 | 99.99 | 0 | NM_022485.5 |
| MUSK | 100.00 | 0 | NM_005592.4 |
| MYBPC1 | 100.00 | 0 | NM_002465.4 |
| MYBPC3 | 99.99 | 0 | NM_000256.3 |
| MYF6 | 99.99 | 0 | NM_002469.3 |
| MYH14 | 99.94 | 0 | NM_024729.4 |
| MYH2 | 100.00 | 0 | NM_017534.6 |
| MYH3 | 100.00 | 0 | NM_002470.4 |
| MYH7 | 99.88 | 0 | NM_000257.4 |
| MYH8 | 100.00 | 0 | NM_002472.3 |
| MYL1 | 99.95 | 0 | NM_079420.3 |
| MYL2 | 100.00 | 0 | NM_000432.4 |
| MYMK | 100.00 | 0 | NM_001080483.3 |
| MYO18B | 100.00 | 0 | NM_032608.7 |
| MYO9A | 100.00 | 0 | NM_006901.4 |
| MYOD1 | 100.00 | 0 | NM_002478.5 |
| MYOT | 100.00 | 0 | NM_006790.3 |
| MYPN | 100.00 | 0 | NM_032578.4 |
| NEB | 89.15 | 0 | NM_001271208.2 |
| NSUN3 | 100.00 | 0 | NM_022072.5 |
| OBSCN | 99.64 | 0 | NM_052843.4 |
| OPA1 | 99.99 | 0 | NM_015560.3 |
| ORAI1 | 97.41 | 0 | NM_032790.3 |
| P4HA1 | 100.00 | 0 | NM_001017962.3 |
| PABPN1 | 99.26 | 0 | NM_004643.4 |
| PAX7 | 100.00 | 0 | NM_002584.3 |
| PDHA1 | 99.96 | 0 | NM_000284.4 |
| PFKM | 100.00 | 0 | NM_000289.6 |
| PGAM2 | 99.92 | 0 | NM_000290.4 |
| PGK1 | 100.00 | 0 | NM_000291.4 |
| PGM1 | 100.00 | 0 | NM_002633.3 |
| PHKA1 | 99.98 | 0 | NM_002637.4 |
| PHKB | 99.99 | 0 | NM_000293.3 |
| PIEZO2 | 99.97 | 0 | NM_022068.4 |
| PLEC | 99.99 | 0 | NM_000445.5 |
| PLIN4 | 99.75 | 0 | NM_001367868.2 |
| PNPLA2 | 99.90 | 0 | NM_020376.4 |
| PNPLA8 | 100.00 | 0 | NM_015723.5 |
| POGLUT1 | 99.99 | 0 | NM_152305.3 |
| POLG | 99.96 | 0 | NM_002693.3 |
| POLG2 | 100.00 | 0 | NM_007215.4 |
| POMGNT1 | 100.00 | 0 | NM_017739.4 |
| POMGNT2 | 100.00 | 0 | NM_032806.6 |
| POMK | 100.00 | 0 | NM_032237.5 |
| POMT1 | 99.97 | 0 | NM_007171.4 |
| POMT2 | 99.99 | 0 | NM_013382.7 |
| POPDC3 | 100.00 | 0 | NM_022361.5 |
| PREPL | 99.95 | 0 | NM_006036.4 |
| PRKAG2 | 99.99 | 0 | NM_016203.4 |
| PTPN11 | 100.00 | 0 | NM_002834.5 |
| PYGM | 100.00 | 0 | NM_005609.4 |
| PYROXD1 | 100.00 | 0 | NM_024854.5 |
| RAPSN | 99.92 | 0 | NM_005055.5 |
| RBCK1 | 100.00 | 0 | NM_031229.4 |
| RRM2B | 100.00 | 0 | NM_015713.5 |
| RXYLT1 | 100.00 | 0 | NM_014254.3 |
| RYR1 | 99.32 | 0 | NM_000540.3 |
| RYR3 | 99.99 | 0 | NM_001036.6 |
| SBDS | 99.99 | 0 | NM_016038.4 |
| SCN4A | 99.98 | 0 | NM_000334.4 |
| SELENON | 93.43 | 0 | NM_020451.3 |
| SGCA | 100.00 | 0 | NM_000023.4 |
| SGCB | 99.89 | 0 | NM_000232.5 |
| SGCD | 100.00 | 0 | NM_000337.6 |
| SGCG | 99.94 | 0 | NM_000231.3 |
| SIL1 | 100.00 | 0 | NM_022464.5 |
| SLC16A1 | 99.80 | 0 | NM_003051.4 |
| SLC18A3 | 100.00 | 0 | NM_003055.3 |
| SLC22A5 | 100.00 | 0 | NM_003060.4 |
| SLC25A1 | 98.61 | 0 | NM_005984.5 |
| SLC25A20 | 100.00 | 0 | NM_000387.6 |
| SLC25A4 | 99.94 | 0 | NM_001151.4 |
| SLC5A7 | 100.00 | 0 | NM_021815.5 |
| SMCHD1 | 99.96 | 0 | NM_015295.3 |
| SMPX | 100.00 | 0 | NM_014332.3 |
| SNAP25 | 100.00 | 0 | NM_003081.5 |
| SPEG | 99.99 | 0 | NM_005876.5 |
| SPTBN4 | 99.92 | 0 | NM_020971.3 |
| SQSTM1 | 99.99 | 0 | NM_003900.5 |
| STAC3 | 100.00 | 0 | NM_145064.3 |
| STIM1 | 100.00 | 0 | NM_003156.4 |
| SUCLA2 | 100.00 | 0 | NM_003850.3 |
| SYNE1 | 99.99 | 0 | NM_033071.5 |
| SYNE2 | 100.00 | 0 | NM_182914.3 |
| SYT2 | 99.96 | 0 | NM_177402.5 |
| TAFAZZIN | 99.99 | 0 | NM_000116.5 |
| TANGO2 | 100.00 | 0 | NM_152906.7 |
| TCAP | 100.00 | 0 | NM_003673.4 |
| TEFM | 100.00 | 0 | NM_024683.4 |
| TIA1 | 99.98 | 0 | NM_022173.4 |
| TK2 | 99.85 | 0 | NM_004614.5 |
| TMEM126B | 100.00 | 0 | NM_018480.7 |
| TMEM43 | 99.98 | 0 | NM_024334.3 |
| TNNC2 | 99.98 | 0 | NM_003279.3 |
| TNNI2 | 100.00 | 0 | NM_003282.4 |
| TNNT1 | 99.99 | 0 | NM_003283.6 |
| TNNT3 | 99.98 | 0 | NM_006757.4 |
| TNPO3 | 100.00 | 0 | NM_012470.4 |
| TOP3A | 100.00 | 0 | NM_004618.5 |
| TOR1AIP1 | 100.00 | 0 | NM_001267578.2 |
| TPM2 | 99.99 | 0 | NM_003289.4 |
| TPM3 | 99.99 | 0 | NM_152263.4 |
| TRAPPC11 | 100.00 | 0 | NM_021942.6 |
| TRDN | 99.97 | 0 | NM_006073.4 |
| TRIM32 | 100.00 | 0 | NM_012210.4 |
| TRIM63 | 100.00 | 0 | NM_032588.4 |
| TRIP4 | 99.97 | 0 | NM_016213.5 |
| TSEN54 | 97.75 | 0 | NM_207346.3 |
| TTN | 99.91 | 0 | NM_133378.4 |
| UNC45B | 100.00 | 0 | NM_173167.3 |
| VAMP1 | 100.00 | 0 | NM_014231.5 |
| VCP | 99.99 | 0 | NM_007126.5 |
| VMA21 | 99.99 | 0 | NM_001017980.4 |