Approved symbol | RXYLT1 |
---|---|
Approved name | ribitol xylosyltransferase 1 |
HGCN ID | HGNC:13530 |
Previous symbols | TMEM5 |
Inheritance | |
OMIM | 605862 |
Chromosome | 12q14.2 |
Panel(s) |
NGS Fetal akinesia deformation sequence FADS NGS Intellectual disability NGS Mendeliome NGS Muscle disorders NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |