Approved symbol | ITPR1 |
---|---|
Approved name | inositol 1,4,5-trisphosphate receptor type 1 |
HGCN ID | HGNC:6180 |
Previous symbols | SCA15, SCA16, SCA29 |
Inheritance | |
OMIM | 147265 |
Chromosome | 3p26.1 |
Panel(s) |
NGS Intellectual disability NGS Mendeliome NGS Movement disorders NGS Pontocerebellar hypoplasia PCH NGS Preconception panel (for consanguineous couples) |