Belgian Genetic Tests database
Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
| Full name: |
Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
|
| Abbreviation: |
IPN
|
| Version number: |
v5-2020
|
| Laboratory: | |
| Created: |
28 Jun 2019 - 09:53
|
| Changed: |
26 Jul 2023 - 10:05
|
| 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 |
| 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 |
| MED12 | 100.00 | 0 | NM_015560.2 |
| 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 |
| MTRFR | 100.00 | 0 | NM_152269.4 |
| 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 |
| 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 |