Approved symbol | PDHB |
---|---|
Approved name | pyruvate dehydrogenase E1 subunit beta |
HGCN ID | HGNC:8808 |
Previous symbols | |
Inheritance | |
OMIM | 179060 |
Chromosome | 3p14.3 |
Panel(s) |
NGS Epilepsie NGS Intellectual disability NGS Mendelioom NGS Preconceptiepanel (t.b.v. consanguine paren) |