Belgian Genetic Tests database
Paroxysmal Episodic disorders - UGent
| Full name: |
Paroxysmal Episodic disorders - UGent
|
| Version number: |
v2
|
| Laboratory: | |
| Created: |
24 Jun 2019 - 10:50
|
| Changed: |
16 Dec 2022 - 13:56
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ADCY5 | 99.98 | 1 | |
| ATAD1 | 99.85 | 1 | |
| ATP1A2 | 99.85 | 1 | |
| ATP1A3 | 99.98 | 1 | |
| BCKDHA | 99.97 | 1 | |
| BCKDHB | 99.73 | 1 | |
| CACNA1A | 98.16 | 1 | |
| CACNB4 | 99.20 | 1 | |
| CEP290 | 98.10 | 1 | |
| CHRNA4 | 100.00 | 1 | |
| CHRNB2 | 99.99 | 1 | |
| CNTNAP2 | 99.99 | 1 | |
| COL4A1 | 99.99 | 1 | |
| CRH | 100.00 | 1 | |
| CSNK1D | 99.99 | 1 | |
| DBT | 94.51 | 1 | |
| DEPDC5 | 99.18 | 1 | |
| DLAT | 99.65 | 1 | |
| DLD | 99.89 | 1 | |
| DNMT1 | 99.13 | 1 | |
| ECHS1 | 100.00 | 1 | |
| FGF14 | 99.99 | 1 | |
| GCH1 | 99.94 | 1 | |
| GLRA1 | 100.00 | 1 | |
| GLRB | 99.79 | 1 | |
| GNAO1 | 99.86 | 1 | |
| KCNA1 | 100.00 | 1 | |
| KCNK18 | 100.00 | 1 | |
| KCNMA1 | 99.89 | 1 | |
| KCNQ2 | 100.00 | 1 | |
| KCNT1 | 99.98 | 1 | |
| NOTCH3 | 99.99 | 1 | |
| PDE10A | 87.37 | 1 | |
| PDHA1 | 99.04 | 1 | |
| PDHX | 99.64 | 1 | |
| PNKD | 100.00 | 1 | |
| PRKN | 99.99 | 1 | |
| PRRT2 | 99.97 | 1 | |
| SACS | 99.97 | 1 | |
| SCN1A | 99.94 | 1 | |
| SCN2A | 99.86 | 1 | |
| SCN4A | 99.98 | 1 | |
| SCN8A | 99.77 | 1 | |
| SETX | 99.97 | 1 | |
| SLC16A2 | 99.97 | 1 | |
| SLC1A3 | 99.98 | 1 | |
| SLC20A2 | 99.95 | 1 | |
| SLC2A1 | 99.93 | 1 | |
| SLC6A5 | 99.97 | 1 | |
| TBC1D24 | 100.00 | 1 | |
| TREX1 | 100.00 | 1 | |
| UBR4 | 99.33 | 1 | |
| VAMP2 | 100.00 | 1 |