Approved symbol | ABHD12 |
---|---|
Approved name | abhydrolase domain containing 12, lysophospholipase |
HGCN ID | HGNC:15868 |
Previous symbols | C20orf22 |
Inheritance | |
OMIM | 613599 |
Chromosome | 20p11.21 |
Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Movement disorders NGS Neuropathy/Charcot Marie Tooth NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |