Approved symbol | PAX6 |
---|---|
Approved name | paired box 6 |
HGCN ID | HGNC:8620 |
Previous symbols | AN1, AN2 |
Inheritance | |
OMIM | 607108 |
Chromosome | 11p13 |
Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Glaucoom NGS Hypothyroidism NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Movement disorders NGS Retinitis pigmentosa NGS Vision disorder Albinism NGS Vision disorder CSNB PAX6 Analysis |