| Approved symbol | TSEN54 |
|---|---|
| Approved name | tRNA splicing endonuclease subunit 54 |
| HGCN ID | HGNC:27561 |
| Previous symbols | |
| Inheritance | |
| OMIM | 608755 |
| Chromosome | 17q25.1 |
| Panel(s) |
NGS Bewegingsstoornissen NGS Epilepsie NGS Intellectual disability NGS Mendelioom NGS Microcefalie NGS Pontocerebellaire hypoplasie PCH NGS Preconceptiepanel NGS Preconceptiepanel (t.b.v. consanguine paren) PCH Volendamse founder mutatie TSEN54 Analysis |
