Approved symbol | CBS |
---|---|
Approved name | cystathionine beta-synthase |
HGCN ID | HGNC:1550 |
Previous symbols | |
Inheritance | |
OMIM | 613381 |
Chromosome | 21q22.3 |
Panel(s) |
NGS Epilepsie NGS Intellectual disability NGS Lens luxatie en gerelateerde syndromen NGS Marfan syndroom en andere marfanachtige beelden NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Wittestofziekten |