Belgian Genetic Tests database
Ataxia (141 genes) - KUL
| Full name: |
Ataxia (141 genes) - KUL
|
| Version number: |
versie 4-2020 (141 genen)
|
| Laboratory: | |
| Created: |
18 Dec 2020 - 13:17
|
| Changed: |
26 Jul 2023 - 09:07
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| AAAS | 100.00 | 0 | NM_015665.5 |
| ABCB7 | 100.00 | 0 | NM_004299.5 |
| ABHD12 | 98.00 | 0 | NM_001042472.2 |
| ACO2 | 100.00 | 0 | NM_001098.2 |
| AFG3L2 | 99.80 | 0 | NM_006796.2 |
| AMPD2 | 99.80 | 0 | NM_001257360.1 |
| ANO10 | 100.00 | 0 | NM_018075.4 |
| AP1S2 | 100.00 | 0 | NM_003916.4 |
| APTX | 99.00 | 0 | NM_175073.2 |
| ARSA | 100.00 | 0 | NM_000487.5 |
| ATCAY | 100.00 | 0 | NM_033064.4 |
| ATG5 | 100.00 | 0 | NM_004849.3 |
| ATM | 100.00 | 0 | NM_000051.3 |
| ATN1 | 99.80 | 0 | NM_001007026.1 |
| ATP1A3 | 100.00 | 0 | NM_152296.5 |
| ATP2B3 | 100.00 | 0 | NM_001001344.2 |
| ATP8A2 | 99.90 | 0 | NM_016529.5 |
| ATXN1 | 99.90 | 0 | NM_000332.3 |
| ATXN10 | 95.40 | 0 | NM_013236.3 |
| ATXN2 | 96.20 | 0 | NM_002973.3 |
| ATXN3 | 97.20 | 0 | NM_004993.5 |
| ATXN7 | 98.00 | 0 | NM_000333.3 |
| ATXN8OS | 100.00 | 0 | NG_016173.1 |
| BEAN1 | 85.90 | 0 | NM_001178020.2 |
| CA8 | 100.00 | 0 | NM_004056.5 |
| CACNA1A | 99.80 | 0 | NM_001127221.1 |
| CACNA1G | 99.90 | 0 | NM_018896.4 |
| CACNA2D2 | 98.90 | 0 | NM_006030.3 |
| CACNB4 | 100.00 | 0 | NM_000726.4 |
| CAPN1 | 100.00 | 0 | NM_001198868.1 |
| CCDC88C | 100.00 | 0 | NM_001080414.3 |
| CLCN2 | 99.80 | 0 | NM_004366.5 |
| CLN5 | 100.00 | 0 | NM_006493.2 |
| CLN6 | 99.30 | 0 | NM_017882.2 |
| COQ8A | 100.00 | 0 | NM_020247.4 |
| COX20 | 99.90 | 0 | NM_198076.5 |
| CP | 99.50 | 0 | NM_000096.3 |
| CWF19L1 | 100.00 | 0 | NM_018294.5 |
| CYP27A1 | 100.00 | 0 | NM_000784.3 |
| DAB1 | 98.80 | 0 | NM_021080.4 |
| DARS2 | 99.70 | 0 | NM_018122.4 |
| DNAJC19 | 100.00 | 0 | NM_145261.3 |
| DNAJC3 | 100.00 | 0 | NM_006260.4 |
| DNAJC5 | 100.00 | 0 | NM_025219.2 |
| DNMT1 | 99.50 | 0 | NM_001130823.2 |
| EEF2 | 100.00 | 0 | NM_001961.3 |
| EIF2B1 | 100.00 | 0 | NM_001414.3 |
| EIF2B2 | 99.50 | 0 | NM_014239.3 |
| EIF2B3 | 100.00 | 0 | NM_020365.4 |
| EIF2B4 | 100.00 | 0 | NM_015636.3 |
| EIF2B5 | 100.00 | 0 | NM_003907.2 |
| ELOVL4 | 100.00 | 0 | NM_022726.3 |
| ELOVL5 | 100.00 | 0 | NM_021814.4 |
| EXOSC3 | 100.00 | 0 | NM_016042.3 |
| FGF14 | 100.00 | 0 | NM_004115.3 |
| FLVCR1 | 100.00 | 0 | NM_014053.3 |
| FMR1 | 98.50 | 0 | NM_002024.5 |
| FOLR1 | 100.00 | 0 | NM_016725.2 |
| FXN | 96.40 | 0 | NM_000144.4 |
| GBA2 | 100.00 | 0 | NM_020944.2 |
| GFAP | 100.00 | 0 | NM_002055.4 |
| GOSR2 | 100.00 | 0 | NM_004287.4 |
| GRID2 | 100.00 | 0 | NM_001510.3 |
| GRM1 | 99.90 | 0 | NM_001278064.1 |
| HEXA | 100.00 | 0 | NM_000520.5 |
| HEXB | 100.00 | 0 | NM_000521.3 |
| IFRD1 | 99.90 | 0 | NM_001550.3 |
| ITPR1 | 100.00 | 0 | NM_002222.5 |
| KCNA1 | 100.00 | 0 | NM_000217.2 |
| KCNC3 | 88.90 | 0 | NM_004977.2 |
| KCND3 | 100.00 | 0 | NM_004980.4 |
| KCNJ10 | 100.00 | 0 | NM_002241.4 |
| KIF1C | 100.00 | 0 | NM_006612.5 |
| LAMA1 | 100.00 | 0 | NM_005559.3 |
| MARS2 | 100.00 | 0 | NM_138395.3 |
| MME | 100.00 | 0 | NM_007289.3 |
| MRE11 | 100.00 | 0 | NM_005591.3 |
| MTPAP | 99.50 | 0 | NM_018109.3 |
| MTTP | 100.00 | 0 | NM_000253.3 |
| NKX6-2 | 99.90 | 0 | NM_177400.2 |
| NOP56 | 100.00 | 0 | NM_006392.3 |
| NPC1 | 99.90 | 0 | NM_000271.4 |
| NPC2 | 100.00 | 0 | NM_006432.3 |
| OPA1 | 100.00 | 0 | NM_015560.2 |
| PDYN | 100.00 | 0 | NM_024411.4 |
| PEX10 | 100.00 | 0 | NM_153818.1 |
| PEX7 | 100.00 | 0 | NM_000288.3 |
| PHYH | 100.00 | 0 | NM_006214.3 |
| PIK3R5 | 100.00 | 0 | NM_001142633.2 |
| PMM2 | 100.00 | 0 | NM_000303.2 |
| PMPCA | 100.00 | 0 | NM_015160.2 |
| PNKP | 99.80 | 0 | NM_007254.3 |
| PNPLA6 | 99.80 | 0 | NM_006702.4 |
| POLG | 100.00 | 0 | NM_002693.2 |
| POLR3A | 100.00 | 0 | NM_007055.3 |
| PPP2R2B | 100.00 | 0 | NM_181678.2 |
| PRICKLE1 | 100.00 | 0 | NM_153026.2 |
| PRKCG | 99.90 | 0 | NM_002739.4 |
| PRRT2 | 99.60 | 0 | NM_145239.2 |
| PTF1A | 94.90 | 0 | NM_178161.2 |
| PUM1 | 100.00 | 0 | NM_001020658.1 |
| RNF170 | 100.00 | 0 | NM_001160223.1 |
| RNF216 | 100.00 | 0 | NM_207111.3 |
| RUBCN | 100.00 | 0 | NM_001145642.4 |
| SACS | 100.00 | 0 | NM_014363.5 |
| SAMD9L | 100.00 | 0 | NM_152703.4 |
| SCYL1 | 100.00 | 0 | NM_020680.3 |
| SEPSECS | 100.00 | 0 | NM_016955.3 |
| SETX | 100.00 | 0 | NM_015046.6 |
| SIL1 | 100.00 | 0 | NM_022464.4 |
| SLC1A3 | 100.00 | 0 | NM_004172.4 |
| SLC52A2 | 100.00 | 0 | NM_024531.4 |
| SLC9A1 | 100.00 | 0 | NM_003047.4 |
| SNX14 | 100.00 | 0 | NM_153816.5 |
| SPG7 | 99.90 | 0 | NM_003119.3 |
| SPTBN2 | 100.00 | 0 | NM_006946.3 |
| SRD5A3 | 100.00 | 0 | NM_024592.4 |
| STUB1 | 100.00 | 0 | NM_005861.3 |
| SYNE1 | 100.00 | 0 | NM_033071.3 |
| SYT14 | 92.90 | 0 | NM_001146261.2 |
| TBP | 99.30 | 0 | NM_003194.4 |
| TDP1 | 100.00 | 0 | NM_018319.3 |
| TDP2 | 100.00 | 0 | NM_016614.2 |
| TGM6 | 99.90 | 0 | NM_198994.2 |
| TK2 | 99.90 | 0 | NM_004614.4 |
| TMEM240 | 100.00 | 0 | NM_001114748.1 |
| TPP1 | 99.90 | 0 | NM_000391.3 |
| TRPC3 | 99.80 | 0 | NM_001130698.1 |
| TTBK2 | 100.00 | 0 | NM_173500.3 |
| TTC19 | 98.00 | 0 | NM_017775.3 |
| TTPA | 100.00 | 0 | NM_000370.3 |
| TUBB4A | 100.00 | 0 | NM_006087.3 |
| TWNK | 100.00 | 0 | NM_021830.4 |
| VAMP1 | 100.00 | 0 | NM_014231.4 |
| VLDLR | 100.00 | 0 | NM_003383.4 |
| VWA3B | 100.00 | 0 | NM_144992.4 |
| WDR81 | 100.00 | 0 | NM_001163809.1 |
| WFS1 | 100.00 | 0 | NM_006005.3 |
| WWOX | 100.00 | 0 | NM_016373.3 |
| XRCC1 | 100.00 | 0 | NM_006297.2 |
| ZNF592 | 100.00 | 0 | NM_014630.2 |