Belgian Genetic Tests database
Progressive Myoclonic Epilepsy - UGent
| Full name: |
Progressive Myoclonic Epilepsy - UGent
|
| Version number: |
v1
|
| Laboratory: | |
| Created: |
24 Jun 2019 - 11:13
|
| Changed: |
16 Dec 2022 - 13:07
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ACD | 99.99 | 1 | |
| ASAH1 | 99.90 | 1 | |
| ATP13A2 | 99.96 | 1 | |
| BSCL2 | 99.99 | 1 | |
| CACNA1A | 98.16 | 1 | |
| CERS1 | 100.00 | 1 | |
| CLN3 | 99.92 | 1 | |
| CLN5 | 100.00 | 1 | |
| CLN6 | 100.00 | 1 | |
| CLN8 | 100.00 | 1 | |
| CSTB | 100.00 | 1 | |
| CTSD | 100.00 | 1 | |
| CTSF | 99.96 | 1 | |
| DNAJC5 | 99.99 | 1 | |
| EPM2A | 99.99 | 1 | |
| FARS2 | 100.00 | 1 | |
| GBA1 | 96.92 | 1 | |
| GOSR2 | 98.92 | 1 | |
| GRN | 100.00 | 1 | |
| KCNC1 | 100.00 | 1 | |
| KCTD7 | 99.98 | 1 | |
| KIF5A | 99.91 | 1 | |
| LMNB2 | 99.99 | 1 | |
| MFSD8 | 99.70 | 1 | |
| MTFMT | 99.98 | 1 | |
| NEU1 | 99.98 | 1 | |
| NHLRC1 | 100.00 | 1 | |
| PPT1 | 97.48 | 1 | |
| PRICKLE1 | 99.87 | 1 | |
| PRNP | 100.00 | 1 | |
| SACS | 99.97 | 1 | |
| SCARB2 | 99.99 | 1 | |
| SERPINI1 | 99.98 | 1 | |
| TBC1D24 | 100.00 | 1 |