Approved symbol | CLN3 |
---|---|
Approved name | CLN3 lysosomal/endosomal transmembrane protein, battenin |
HGCN ID | HGNC:2074 |
Previous symbols | BTS |
Inheritance | |
OMIM | 607042 |
Chromosome | 16p12.1 |
Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Dementia/ALS NGS Epilepsy NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Preconception panel NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Treatable metabolic neurodegenerative disorders NGS Vision disorder CSNB |