Approved symbol | ERCC8 |
---|---|
Approved name | ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
HGCN ID | HGNC:3439 |
Previous symbols | CKN1 |
Inheritance | |
OMIM | 609412 |
Chromosome | 5q12.1 |
Panel(s) |
NGS Intellectual disability NGS Mendeliome NGS Microcephaly NGS Preconception panel (for consanguineous couples) NGS White matter disease |