Approved symbol | MTHFR |
---|---|
Approved name | methylenetetrahydrofolate reductase |
HGCN ID | HGNC:7436 |
Previous symbols | |
Inheritance | |
OMIM | 607093 |
Chromosome | 1p36.22 |
Panel(s) |
NGS Epilepsy NGS Intellectual disability NGS Mendeliome NGS Movement disorders NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders NGS White matter disease |