Belgian Genetic Tests database
Dystonia (86 genes) - KUL
| Full name: |
Dystonia (86 genes) - KUL
|
| Version number: |
V6-SC-2026-SC-2022
|
| Laboratory: | |
| Created: |
16 Dec 2022 - 10:34
|
| Changed: |
24 Apr 2024 - 08:14
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ACTB | 99.98 | 0 | NM_001101.5 |
| ADCY5 | 99.21 | 0 | NM_183357.3 |
| ANO3 | 99.98 | 0 | NM_031418.4 |
| AOPEP | 99.89 | 0 | NM_001193329.3 |
| ARSA | 100.00 | 0 | NM_000487.6 |
| ARX | 93.36 | 0 | NM_139058.3 |
| ATM | 99.95 | 0 | NM_000051.4 |
| ATN1 | 99.86 | 0 | NM_001007026.2 |
| ATP1A3 | 100.00 | 0 | NM_152296.5 |
| ATP7B | 100.00 | 0 | NM_000053.4 |
| AUH | 100.00 | 0 | NM_001698.3 |
| BCAP31 | 100.00 | 0 | NM_001139441.1 |
| C19ORF12 | 100.00 | 0 | NM_001031726.4 |
| CACNA1A | 99.99 | 0 | NM_001127221.2 |
| CACNA1B | 98.50 | 0 | NM_000718.4 |
| CIZ1 | 99.92 | 0 | NM_012127.3 |
| CLN3 | 99.99 | 0 | NM_001042432.2 |
| COASY | 100.00 | 0 | NM_025233.7 |
| COL6A3 | 99.99 | 0 | NM_004369.4 |
| COQ8A | 100.00 | 0 | NM_020247.5 |
| CP | 99.98 | 0 | NM_000096.4 |
| CYP27A1 | 100.00 | 0 | NM_000784.4 |
| DCAF17 | 99.99 | 0 | NM_025000.4 |
| DDC | 100.00 | 0 | NM_000790.4 |
| DRD2 | 100.00 | 0 | NM_000795.4 |
| EIF2AK2 | 99.98 | 0 | NM_001135651.3 |
| FA2H | 99.79 | 0 | NM_024306.5 |
| FTL | 99.99 | 0 | NM_000146.4 |
| GCDH | 99.96 | 0 | NM_000159.4 |
| GCH1 | 100.00 | 0 | NM_000161.3 |
| GLB1 | 99.98 | 0 | NM_000404.4 |
| GM2A | 99.98 | 0 | NM_000405.5 |
| GNAL | 99.99 | 0 | NM_001142339.3 |
| GNAO1 | 100.00 | 0 | NM_020988.3 |
| GNB1 | 99.99 | 0 | NM_002074.5 |
| HEXA | 100.00 | 0 | NM_000520.6 |
| HEXB | 99.99 | 0 | NM_000521.4 |
| HPCA | 99.99 | 0 | NM_002143.3 |
| HPRT1 | 99.98 | 0 | NM_000194.3 |
| KCNA1 | 100.00 | 0 | NM_000217.3 |
| KCNMA1 | 99.97 | 0 | NM_002247.4 |
| KCTD17 | 100.00 | 0 | NM_001282684.2 |
| KMT2B | 98.89 | 0 | NM_014727.3 |
| MECR | 99.97 | 0 | NM_016011.5 |
| MMUT | 99.99 | 0 | NM_000255.4 |
| MR1 | 100.00 | 0 | NM_001194999.2 |
| NKX2-1 | 99.92 | 0 | NM_001079668.3 |
| NPC1 | 99.97 | 0 | NM_000271.5 |
| NPC2 | 100.00 | 0 | NM_006432.5 |
| NR4A2 | 99.99 | 0 | NM_006186.4 |
| PANK2 | 99.95 | 0 | NM_153638.4 |
| PLA2G6 | 99.97 | 0 | NM_003560.4 |
| PNKD | 99.99 | 0 | NM_015488.5 |
| PPP2R5D | 100.00 | 0 | NM_006245.4 |
| PRKRA | 99.85 | 0 | NM_003690.5 |
| PRRT2 | 99.99 | 0 | NM_145239.3 |
| PTS | 99.99 | 0 | NM_000317.3 |
| RELN | 99.98 | 0 | NM_005045.4 |
| RHOBTB2 | 100.00 | 0 | NM_001160036.2 |
| SCN8A | 99.97 | 0 | NM_014191.4 |
| SERAC1 | 100.00 | 0 | NM_032861.4 |
| SGCE | 100.00 | 0 | NM_003919.3 |
| SLC18A2 | 99.99 | 0 | NM_003054.6 |
| SLC19A3 | 100.00 | 0 | NM_025243.4 |
| SLC20A2 | 99.98 | 0 | NM_006749.5 |
| SLC2A1 | 99.99 | 0 | NM_006516.4 |
| SLC30A10 | 99.99 | 0 | NM_018713.3 |
| SLC39A14 | 100.00 | 0 | NM_015359.6 |
| SLC6A19 | 100.00 | 0 | NM_001003841.3 |
| SLC6A3 | 99.99 | 0 | NM_001044.5 |
| SMPD1 | 99.65 | 0 | NM_000543.5 |
| SPR | 99.98 | 0 | NM_003124.5 |
| SUCLG1 | 99.81 | 0 | NM_003849.4 |
| TAF1 | 99.92 | 0 | NM_004606.5 |
| TBCD | 99.45 | 0 | NM_005993.5 |
| TH | 99.91 | 0 | NM_199292.3 |
| THAP1 | 100.00 | 0 | NM_018105.3 |
| TIMM8A | 100.00 | 0 | NM_004085.4 |
| TOR1A | 99.95 | 0 | NM_000113.3 |
| TUBB4A | 100.00 | 0 | NM_006087.4 |
| VAC14 | 99.91 | 0 | NM_018052.5 |
| VPS13A | 99.99 | 0 | NM_033305.3 |
| VPS16 | 99.96 | 0 | NM_022575.4 |
| VPS41 | 100.00 | 0 | NM_014396.4 |
| WARS2 | 100.00 | 0 | NM_015836.4 |
| WDR45 | 99.99 | 0 | NM_007075.4 |