Approved symbol | NPC1 |
---|---|
Approved name | NPC intracellular cholesterol transporter 1 |
HGCN ID | HGNC:7897 |
Previous symbols | |
Inheritance | |
OMIM | 607623 |
Chromosome | 18q11.2 |
Panel(s) |
NGS Dementia/ALS NGS Intellectual disability NGS Interstitial lung disease ILD NGS Mendeliome NGS Movement disorders NGS Preconception panel NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders NPC1 Analysis |