| Approved symbol | BCKDHB |
|---|---|
| Approved name | branched chain keto acid dehydrogenase E1 subunit beta |
| HGCN ID | HGNC:987 |
| Previous symbols | |
| Inheritance | |
| OMIM | 248611 |
| Chromosome | 6q14.1 |
| Panel(s) |
NGS Intellectual disability NGS Mendeliome NGS Movement disorders NGS Preconception panel NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders NGS White matter disease |
