Belgian Genetic Tests database
Neuromuscular disorders (232 genes) - KUL
| Full name: |
Neuromuscular disorders (232 genes) - KUL
|
| Description: |
https://firebasestorage.googleapis.com/v0/b/uz-laboboeken.appspot.com/o/GHB_CME%2FNMD_genpanel_CS.pdf?alt=media&token=68c8ef86-d20f-4b72-a947-963ff9bf190d
|
| Version number: |
Neuromuscular Disorders panel versie 2-2020
|
| Laboratory: | |
| Created: |
03 Jul 2019 - 09:39
|
| Changed: |
22 Sep 2022 - 14:53
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| 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 |
| ACADS | 100.00 | 0 | NM_000017.3 |
| ACADVL | 99.60 | 0 | NM_000018.3 |
| ACTA1 | 100.00 | 0 | NM_001100.3 |
| ACTN2 | 100.00 | 0 | NM_001103.3 |
| ACVR1 | 100.00 | 0 | NM_001105.4 |
| ADSS1 | 100.00 | 0 | NM_199165.2 |
| AGL | 100.00 | 0 | NM_000642.2 |
| AGRN | 99.00 | 0 | NM_198576.3 |
| ALDOA | 100.00 | 0 | NM_000034.3 |
| ALG13 | 99.90 | 0 | NM_001099922.2 |
| ALG14 | 100.00 | 0 | NM_144988.3 |
| ALG2 | 100.00 | 0 | NM_033087.3 |
| AMPD1 | 100.00 | 0 | NM_000036.2 |
| ANO5 | 100.00 | 0 | NM_213599.2 |
| ATP1A2 | 100.00 | 0 | NM_000702.3 |
| ATP2A1 | 99.90 | 0 | NM_173201.3 |
| B3GALNT2 | 99.70 | 0 | NM_152490.4 |
| 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 |
| CACNA1A | 99.80 | 0 | NM_001127221.1 |
| CACNA1H | 99.10 | 0 | NM_021098.2 |
| CACNA1S | 100.00 | 0 | NM_000069.2 |
| CAPN3 | 99.60 | 0 | NM_000070.2 |
| CASQ1 | 100.00 | 0 | NM_001231.4 |
| CAV3 | 100.00 | 0 | NM_033337.2 |
| CAVIN1 | 100.00 | 0 | NM_012232.5 |
| CCDC78 | 100.00 | 0 | NM_001031737.2 |
| CFH | 100.00 | 0 | NM_001449.4 |
| CFL2 | 99.90 | 0 | NM_021914.7 |
| CHAT | 100.00 | 0 | NM_020549.4 |
| CHD8 | 99.80 | 0 | NM_001170629.1 |
| CHKB | 100.00 | 0 | NM_005198.4 |
| CHRNA1 | 99.90 | 0 | NM_000079.3 |
| CHRNB1 | 100.00 | 0 | NM_000747.2 |
| CHRND | 100.00 | 0 | NM_000751.2 |
| CHRNE | 99.80 | 0 | NM_000080.3 |
| CHRNG | 100.00 | 0 | NM_005199.4 |
| CLCN1 | 100.00 | 0 | NM_000083.2 |
| CNTN1 | 100.00 | 0 | NM_001843.3 |
| COL12A1 | 100.00 | 0 | NM_004370.5 |
| COL13A1 | 100.00 | 0 | NM_001130103.1 |
| COL6A1 | 99.80 | 0 | NM_001848.2 |
| COL6A2 | 99.90 | 0 | NM_001849.3 |
| COL6A3 | 100.00 | 0 | NM_004369.3 |
| COLQ | 100.00 | 0 | NM_005677.3 |
| CORIN | 100.00 | 0 | NM_002334.3 |
| CPT2 | 100.00 | 0 | NM_000098.2 |
| CRPPA | 98.60 | 0 | NM_001101426.3 |
| CRYAB | 100.00 | 0 | NM_001885.2 |
| DAG1 | 100.00 | 0 | NM_004393.5 |
| DCST2 | 99.80 | 0 | NM_144622.2 |
| DES | 100.00 | 0 | NM_001927.3 |
| DMD | 100.00 | 0 | NM_004006.2 |
| DMPK | 100.00 | 0 | NM_001081563.2 |
| DNA2 | 100.00 | 0 | NM_001080449.2 |
| DNAJB6 | 100.00 | 0 | NM_058246.3 |
| DNM2 | 100.00 | 0 | NM_001005360.2 |
| DOK7 | 97.90 | 0 | NM_173660.4 |
| DOLK | 100.00 | 0 | NM_014908.3 |
| DPAGT1 | 100.00 | 0 | NM_001382.3 |
| DPM1 | 100.00 | 0 | NM_003859.2 |
| DPM2 | 100.00 | 0 | NM_003863.3 |
| DPM3 | 100.00 | 0 | NM_153741.1 |
| DYSF | 99.90 | 0 | NM_003494.3 |
| ECEL1 | 99.90 | 0 | NM_004826.3 |
| EMD | 100.00 | 0 | NM_000117.2 |
| ENO3 | 100.00 | 0 | NM_053013.3 |
| ETFA | 100.00 | 0 | NM_000126.3 |
| ETFB | 100.00 | 0 | NM_001985.2 |
| ETFDH | 100.00 | 0 | NM_004453.3 |
| EXOSC3 | 100.00 | 0 | NM_016042.3 |
| FKBP14 | 100.00 | 0 | NM_017946.3 |
| FKRP | 100.00 | 0 | NM_024301.4 |
| FKTN | 100.00 | 0 | NM_001079802.1 |
| FLAD1 | 100.00 | 0 | NM_025207.4 |
| FLNC | 100.00 | 0 | NM_001458.4 |
| FXR1 | 99.90 | 0 | NM_005087.3 |
| GAA | 100.00 | 0 | NM_000152.4 |
| GBE1 | 100.00 | 0 | NM_000158.3 |
| GFPT1 | 100.00 | 0 | NM_002056.3 |
| GGPS1 | 100.00 | 0 | NM_001037277.1 |
| GMPPB | 99.60 | 0 | NM_013334.3 |
| GNE | 100.00 | 0 | NM_001128227.2 |
| GOLGA2 | 100.00 | 0 | NM_004486.4 |
| GYG1 | 100.00 | 0 | NM_004130.3 |
| GYS1 | 99.90 | 0 | NM_002103.4 |
| HACD1 | 100.00 | 0 | NM_014241.3 |
| HADH | 100.00 | 0 | NM_005327.4 |
| HADHA | 100.00 | 0 | NM_000182.4 |
| HADHB | 100.00 | 0 | NM_000183.2 |
| HINT1 | 100.00 | 0 | NM_005340.6 |
| HNRNPA1 | 100.00 | 0 | NM_031157.3 |
| HNRNPA2B1 | 100.00 | 0 | NM_031243.2 |
| HNRNPDL | 100.00 | 0 | NM_031372.3 |
| HRAS | 100.00 | 0 | NM_005343.3 |
| HSPB1 | 99.00 | 0 | NM_001540.4 |
| HSPB8 | 100.00 | 0 | NM_014365.2 |
| HSPG2 | 99.50 | 0 | NM_005529.6 |
| INPP5K | 100.00 | 0 | NM_016532.3 |
| ISCU | 99.70 | 0 | NM_213595.3 |
| ITGA7 | 100.00 | 0 | NM_002206.2 |
| KBTBD13 | 100.00 | 0 | NM_001101362.2 |
| KCNA1 | 100.00 | 0 | NM_000217.2 |
| KCNE3 | 100.00 | 0 | NM_005472.4 |
| KCNJ18 | 100.00 | 0 | NM_001194958.2 |
| 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 |
| LAMA5 | 99.60 | 0 | NM_005560.4 |
| 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 |
| LDHA | 99.90 | 0 | NM_005566.3 |
| LIMS2 | 100.00 | 0 | NM_001136037.2 |
| LMNA | 99.90 | 0 | NM_170707.3 |
| LMOD3 | 100.00 | 0 | NM_198271.4 |
| LPIN1 | 100.00 | 0 | NM_145693.3 |
| MAP3K20 | 100.00 | 0 | NM_016653.2 |
| MATR3 | 99.70 | 0 | NM_199189.2 |
| MB | 100.00 | 0 | NM_005368.2 |
| MED12 | 100.00 | 0 | NM_015560.2 |
| 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 |
| MUSK | 100.00 | 0 | NM_005592.3 |
| MYBPC1 | 100.00 | 0 | NM_002465.3 |
| MYBPC3 | 99.90 | 0 | NM_000256.3 |
| MYF6 | 100.00 | 0 | NM_002469.2 |
| MYH2 | 100.00 | 0 | NM_017534.5 |
| MYH3 | 100.00 | 0 | NM_002470.3 |
| MYH7 | 100.00 | 0 | NM_000257.3 |
| MYH7B | 99.80 | 0 | NM_024729.3 |
| MYH8 | 100.00 | 0 | NM_002472.2 |
| MYL1 | 100.00 | 0 | NM_079420.2 |
| MYL2 | 99.90 | 0 | NM_000432.3 |
| MYMK | 100.00 | 0 | NM_001080483.2 |
| MYO18B | 99.90 | 0 | NM_032608.6 |
| MYO9A | 100.00 | 0 | NM_006901.3 |
| MYOT | 100.00 | 0 | NM_006790.2 |
| MYPN | 100.00 | 0 | NM_032578.3 |
| NEB | 88.70 | 0 | NM_001271208.1 |
| ORAI1 | 97.90 | 0 | NM_032790.3 |
| P4HA1 | 100.00 | 0 | NM_001017962.2 |
| PABPN1 | 100.00 | 0 | NM_004643.3 |
| PAX7 | 100.00 | 0 | NM_002584.2 |
| PDHA1 | 100.00 | 0 | NM_000284.3 |
| PFKM | 100.00 | 0 | NM_000289.5 |
| PGAM2 | 98.80 | 0 | NM_000290.3 |
| PGK1 | 100.00 | 0 | NM_000291.3 |
| PGM1 | 100.00 | 0 | NM_002633.2 |
| PHKA1 | 100.00 | 0 | NM_002637.3 |
| PHKB | 99.90 | 0 | NM_000293.2 |
| PLEC | 100.00 | 0 | NM_000445.4 |
| PNPLA2 | 99.90 | 0 | NM_020376.3 |
| PNPLA8 | 99.90 | 0 | NM_015723.4 |
| 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 |
| POMT1 | 100.00 | 0 | NM_007171.3 |
| POMT2 | 99.00 | 0 | NM_013382.5 |
| POPDC3 | 100.00 | 0 | NM_022361.4 |
| PREPL | 100.00 | 0 | NM_006036.4 |
| PRKAG2 | 100.00 | 0 | NM_016203.3 |
| PYGM | 100.00 | 0 | NM_005609.3 |
| PYROXD1 | 100.00 | 0 | NM_024854.4 |
| RAPSN | 99.80 | 0 | NM_005055.4 |
| RBCK1 | 100.00 | 0 | NM_031229.3 |
| RXYLT1 | 100.00 | 0 | NM_014254.2 |
| RYR1 | 99.10 | 0 | NM_000540.2 |
| RYR3 | 100.00 | 0 | NM_001036.4 |
| SBDS | 100.00 | 0 | NM_016038.3 |
| SCN4A | 99.70 | 0 | NM_000334.4 |
| SELENON | 92.30 | 0 | NM_020451.2 |
| SGCA | 100.00 | 0 | NM_000023.3 |
| SGCB | 100.00 | 0 | NM_000232.4 |
| SGCD | 100.00 | 0 | NM_000337.5 |
| SGCG | 99.90 | 0 | NM_000231.2 |
| SIL1 | 100.00 | 0 | NM_022464.4 |
| SLC16A1 | 99.80 | 0 | NM_003051.3 |
| 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 |
| SMCHD1 | 100.00 | 0 | NM_015295.2 |
| SNAP25 | 100.00 | 0 | NM_130811.3 |
| SPEG | 100.00 | 0 | NM_005876.4 |
| SPTBN4 | 99.30 | 0 | NM_020971.2 |
| SQSTM1 | 100.00 | 0 | NM_003900.4 |
| STAC3 | 100.00 | 0 | NM_145064.2 |
| STIM1 | 100.00 | 0 | NM_003156.3 |
| SYNE1 | 100.00 | 0 | NM_033071.3 |
| SYNE2 | 100.00 | 0 | NM_182914.2 |
| SYT2 | 99.90 | 0 | NM_177402.4 |
| TCAP | 100.00 | 0 | NM_003673.3 |
| TIA1 | 100.00 | 0 | NM_022173.3 |
| TK2 | 99.90 | 0 | NM_004614.4 |
| TMEM126B | 100.00 | 0 | NM_018480.5 |
| TMEM43 | 100.00 | 0 | NM_024334.2 |
| TNNI2 | 100.00 | 0 | NM_003282.3 |
| TNNT1 | 99.50 | 0 | NM_003283.5 |
| TNNT3 | 100.00 | 0 | NM_006757.3 |
| TNPO3 | 100.00 | 0 | NM_012470.3 |
| TOP3A | 100.00 | 0 | NM_004618.4 |
| TOR1AIP1 | 100.00 | 0 | NM_001267578.1 |
| TPM2 | 100.00 | 0 | NM_003289.3 |
| TPM3 | 100.00 | 0 | NM_152263.3 |
| TRAPPC11 | 100.00 | 0 | NM_021942.5 |
| TRDN | 99.90 | 0 | NM_006073.3 |
| TRIM32 | 100.00 | 0 | NM_012210.3 |
| TRIM63 | 100.00 | 0 | NM_032588.3 |
| TRIP4 | 100.00 | 0 | NM_016213.4 |
| TSEN54 | 97.70 | 0 | NM_207346.2 |
| TTN | 99.90 | 0 | NM_133378.4 |
| UNC45B | 100.00 | 0 | NM_173167.3 |
| VAMP1 | 100.00 | 0 | NM_014231.4 |
| VCP | 99.90 | 0 | NM_007126.4 |
| VMA21 | 100.00 | 0 | NM_001017980.3 |
| WWTR1 | 100.00 | 0 | NM_000116.4 |