Belgian Genetic Tests database
(Familial) epilepsy without developmental delay (gene panel)
| Full name: |
(Familial) epilepsy without developmental delay (gene panel)
|
| Version number: |
WESFE_v3
|
| Laboratory: | |
| Created: |
05 Dec 2023 - 13:41
|
| Changed: |
19 Dec 2023 - 14:01
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ATP1A2 | 99.96 | 1 | |
| ATP1A3 | 99.99 | 1 | |
| CHRNA2 | 100.00 | 1 | |
| CHRNA4 | 99.75 | 1 | |
| CHRNB2 | 99.96 | 1 | |
| CPA6 | 99.98 | 1 | |
| DEPDC5 | 99.97 | 1 | |
| FLNA | 99.89 | 1 | |
| GABRA1 | 99.98 | 1 | |
| GABRB3 | 99.96 | 1 | |
| GABRG2 | 97.95 | 1 | |
| GRIN2A | 99.95 | 1 | |
| HCN1 | 99.78 | 1 | |
| HCN2 | 81.16 | 1 | |
| KCNMA1 | 99.95 | 1 | |
| KCNQ2 | 99.98 | 1 | |
| KCNQ3 | 99.74 | 1 | |
| KCNT1 | 99.93 | 1 | |
| LGI1 | 99.99 | 1 | |
| MTOR | 99.88 | 1 | |
| NEXMIF | 99.85 | 1 | |
| NPRL2 | 100.00 | 1 | |
| NPRL3 | 99.98 | 1 | |
| PCDH19 | 99.93 | 1 | |
| PRRT2 | 100.00 | 1 | |
| RELN | 99.94 | 1 | |
| RORB | 99.95 | 1 | |
| SCN1A | 99.89 | 1 | |
| SCN1B | 99.63 | 1 | |
| SCN2A | 99.92 | 1 | |
| SCN3A | 99.95 | 1 | |
| SCN8A | 99.90 | 1 | |
| SETD1A | 99.55 | 1 | |
| SLC2A1 | 100.00 | 1 | |
| SLC32A1 | 100.00 | 1 | |
| SLC7A3 | 99.48 | 1 | |
| STX1B | 99.92 | 1 | |
| TBC1D24 | 99.97 | 1 | |
| TSC1 | 99.96 | 1 | |
| TSC2 | 99.99 | 1 |