Approved symbol | BSCL2 |
---|---|
Approved name | BSCL2 lipid droplet biogenesis associated, seipin |
HGCN ID | HGNC:15832 |
Previous symbols | GNG3LG, SPG17 |
Inheritance | |
OMIM | 606158 |
Chromosome | 11q12.3 |
Panel(s) |
BSCL2 Analysis NGS Intellectual disability NGS Mendeliome NGS Movement disorders NGS Neuropathy/Charcot Marie Tooth NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |