| Panel name | NGS Pontocerebellar hypoplasia PCH |
|---|---|
| Panel method | WES-based NGS |
| Panel version ** | |
| Panel quality *** | |
| Core-NL | No core-NL genes included |
| CNV analysis | No |
| Note | Coverage gegevens volgen nog. |
| Location | Location AMC |
| Genes (37) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| AMPD2 | |||||
| ATXN2 | |||||
| ATXN7 | |||||
| CASK | |||||
| CHMP1A | |||||
| CLP1 | |||||
| CRPPA | |||||
| DKC1 | |||||
| EXOSC3 | |||||
| EXOSC8 | |||||
| EXOSC9 | |||||
| FKRP | |||||
| FKTN | |||||
| ITPR1 | |||||
| LARGE1 | |||||
| PCLO | |||||
| PMM2 | |||||
| POMGNT1 | |||||
| POMT1 | |||||
| POMT2 | |||||
| RARS2 | |||||
| RELN | |||||
| SEPSECS | |||||
| TBC1D23 | |||||
| TOE1 | |||||
| TSEN15 | |||||
| TSEN2 | |||||
| TSEN34 | |||||
| TSEN54 | |||||
| TUBA1A | |||||
| TUBA8 | |||||
| TUBB | |||||
| TUBB2B | |||||
| TUBB3 | |||||
| VLDLR | |||||
| VPS53 | |||||
| VRK1 |
| Indication(s) |
|---|
| Pontocerebellar hypoplasia PCH |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C