Genomics England
GMS Panels
Panels
Genes and Entities

PRKN

parkin RBR E3 ubiquitin protein ligase
OMIM: 602544
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset dystonia, chorea or related movement disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease, juvenile, type 2, OMIM:600116
Green
in Adult onset neurodegenerative disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
R-numbers: R58
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease, juvenile, type 2, OMIM:600116, Dystonia
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Parkinson disease, juvenile, type 2, 600116, juvenile parkinsonism/dystonia