Approved symbol | CAVIN1 |
---|---|
Approved name | caveolae associated protein 1 |
HGCN ID | HGNC:9688 |
Previous symbols | PTRF |
Inheritance | |
OMIM | 603198 |
Chromosome | 17q21.2 |
Panel(s) |
NGS Fetal akinesia deformation sequence FADS NGS Mendeliome NGS Muscle disorders NGS Preconception panel (for consanguineous couples) NGS Primary immunodeficiency PID NGS Treatable metabolic neurodegenerative disorders |