Approved symbol | ATP6V1E1 |
---|---|
Approved name | ATPase H+ transporting V1 subunit E1 |
HGCN ID | HGNC:857 |
Previous symbols | ATP6E, ATP6V1E |
Inheritance | |
OMIM | 108746 |
Chromosome | 22q11.21 |
Panel(s) |
NGS Cutis laxa and related disorders NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |