| Approved symbol | HGSNAT |
|---|---|
| Approved name | heparan-alpha-glucosaminide N-acetyltransferase |
| HGCN ID | HGNC:26527 |
| Previous symbols | TMEM76 |
| Inheritance | |
| OMIM | 610453 |
| Chromosome | 8p11.21-p11.1 |
| Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Dementia/ALS NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Preconception panel NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Skeletal Dysplasia NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |
