Approved symbol | CHMP1A |
---|---|
Approved name | charged multivesicular body protein 1A |
HGCN ID | HGNC:8740 |
Previous symbols | PRSM1, PCOLN3 |
Inheritance | |
OMIM | 164010 |
Chromosome | 16q24.3 |
Panel(s) |
NGS Bewegingsstoornissen NGS Intellectual disability NGS Mendelioom NGS Pontocerebellaire hypoplasie PCH NGS Preconceptiepanel (t.b.v. consanguine paren) |