Genomics England
GMS Panels
Panels
Genes and Entities

PINK1

PTEN induced putative kinase 1
OMIM: 608309
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 6, early onset, OMIM:605909
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 6, early onset, OMIM:605909, Dystonia
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 6, early onset, 605909, Dystonia
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 6, early onset 605909