Approved symbol | CBS |
---|---|
Approved name | cystathionine beta-synthase |
HGCN ID | HGNC:1550 |
Previous symbols | |
Inheritance | |
OMIM | 613381 |
Chromosome | 21q22.3 |
Panel(s) |
NGS Epilepsy NGS Intellectual disability NGS Lens luxation and related syndromes NGS Marfan syndrome and marfan-like disorders NGS Mendeliome NGS Preconception panel NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders NGS White matter disease |