Approved symbol | UBE3A |
---|---|
Approved name | ubiquitin protein ligase E3A |
HGCN ID | HGNC:12496 |
Previous symbols | EPVE6AP, HPVE6A |
Inheritance | |
OMIM | 601623 |
Chromosome | 15q11.2 |
Panel(s) |
NGS Epilepsie NGS Intellectual disability NGS Mendelioom NGS Microcefalie UBE3A Analysis |