Belgian Genetic Tests database
Dystonia (68 genes) - KUL
| Full name: |
Dystonia (68 genes) - KUL
|
| Version number: |
V5
|
| Laboratory: | |
| Created: |
16 Dec 2022 - 10:34
|
| Changed: |
07 Aug 2023 - 10:25
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ACTB | 100.00 | 0 | NM_001101.4 |
| ADCY5 | 98.60 | 0 | NM_183357.2 |
| ANO3 | 99.70 | 0 | NM_031418.3 |
| ARSA | 100.00 | 0 | NM_000487.5 |
| ARX | 96.10 | 0 | NM_139058.2 |
| ATM | 100.00 | 0 | NM_000051.3 |
| ATP1A3 | 100.00 | 0 | NM_152296.5 |
| ATP7B | 100.00 | 0 | NM_000053.3 |
| AUH | 100.00 | 0 | NM_001698.2 |
| BCAP31 | 100.00 | 0 | NM_001139441.1 |
| C19ORF12 | 100.00 | 0 | NM_001031726.3 |
| CACNA1A | 100.00 | 0 | NM_002143.2 |
| CACNA1B | 97.90 | 0 | NM_000718.3 |
| CIZ1 | 98.80 | 0 | NM_012127.2 |
| COASY | 100.00 | 0 | NM_025233.6 |
| COL6A3 | 100.00 | 0 | NM_004369.3 |
| CP | 99.50 | 0 | NM_000096.3 |
| CYP27A1 | 100.00 | 0 | NM_000784.3 |
| DCAF17 | 100.00 | 0 | NM_025000.3 |
| DDC | 100.00 | 0 | NM_000790.3 |
| DRD2 | 100.00 | 0 | NM_000795.3 |
| FA2H | 99.90 | 0 | NM_024306.4 |
| FTL | 100.00 | 0 | NM_000146.3 |
| GCDH | 99.90 | 0 | NM_000159.3 |
| GCH1 | 100.00 | 0 | NM_000161.2 |
| GLB1 | 100.00 | 0 | NM_000404.3 |
| GNAL | 100.00 | 0 | NM_001142339.2 |
| GNAO1 | 100.00 | 0 | NM_020988.2 |
| GNB1 | 100.00 | 0 | NM_002074.4 |
| HEXA | 100.00 | 0 | NM_000520.5 |
| HEXB | 100.00 | 0 | NM_000521.3 |
| HPRT1 | 100.00 | 0 | NM_000194.2 |
| KCNMA1 | 100.00 | 0 | NM_002247.3 |
| KCTD17 | 100.00 | 0 | NM_001282684.1 |
| KMT2B | 98.40 | 0 | NM_014727.2 |
| MECR | 100.00 | 0 | NM_016011.4 |
| MR1 | 100.00 | 0 | NM_001194999.1 |
| NKX2-1 | 100.00 | 0 | NM_001079668.2 |
| NPC1 | 99.90 | 0 | NM_000271.4 |
| NPC2 | 100.00 | 0 | NM_006432.3 |
| PANK2 | 100.00 | 0 | NM_153638.3 |
| PLA2G6 | 99.70 | 0 | NM_003560.3 |
| PNKD | 100.00 | 0 | NM_015488.4 |
| PRKRA | 93.20 | 0 | NM_003690.4 |
| PRRT2 | 99.60 | 0 | NM_145239.2 |
| PTS | 100.00 | 0 | NM_000317.2 |
| RELN | 100.00 | 0 | NM_005045.3 |
| SERAC1 | 100.00 | 0 | NM_032861.3 |
| SGCE | 100.00 | 0 | NM_003919.2 |
| SLC18A2 | 100.00 | 0 | NM_003054.4 |
| SLC19A3 | 100.00 | 0 | NM_025243.3 |
| SLC2A1 | 100.00 | 0 | NM_006516.2 |
| SLC30A10 | 100.00 | 0 | NM_018713.2 |
| SLC39A14 | 100.00 | 0 | NM_015359.5 |
| SLC6A3 | 100.00 | 0 | NM_001044.4 |
| SMPD1 | 99.30 | 0 | NM_000543.4 |
| SPR | 99.90 | 0 | NM_003124.4 |
| SUCLG1 | 99.60 | 0 | NM_003849.3 |
| TAF1 | 99.90 | 0 | NM_004606.4 |
| TBCD | 99.70 | 0 | NM_005993.4 |
| TH | 99.10 | 0 | NM_199292.2 |
| THAP1 | 100.00 | 0 | NM_018105.2 |
| TIMM8A | 100.00 | 0 | NM_004085.3 |
| TOR1A | 99.70 | 0 | NM_000113.2 |
| TUBB4A | 100.00 | 0 | NM_006087.3 |
| VAC14 | 100.00 | 0 | NM_018052.4 |
| VPS13A | 100.00 | 0 | NM_033305.2 |
| WDR45 | 100.00 | 0 | NM_007075.3 |