PRKN

parkin RBR E3 ubiquitin protein ligase
OMIM: 602544
PanelMode of inheritanceDetails
3 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease, juvenile, type 2, OMIM:600116
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Parkinson disease, juvenile, type 2, 600116, juvenile parkinsonism/dystonia
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease, juvenile, type 2, OMIM:600116, Dystonia