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 Epilepsy NGS Intellectual disability NGS Mendeliome NGS Microcephaly NGS Movement disorders NGS Pontocerebellar hypoplasia PCH NGS Preconception panel NGS Preconception panel (for consanguineous couples) PCH Volendam founder mutation TSEN54 Analysis |