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 dystrophie en macula degeneratie NGS Dementie NGS Epilepsie NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Visus pakket Retinale genen |