1. Panels
  2. Childhood onset dystonia, chorea or related movement disorder
  3. PINK1
Genes in panel
Prev Next
Regions in panel
Prev Next

Childhood onset dystonia, chorea or related movement disorder

Gene: PINK1

Green List (high evidence)
PINK1 (PTEN induced putative kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000158828
EnsemblGeneIds (GRCh37): ENSG00000158828
OMIM: 608309, Gene2Phenotype
PINK1 is in 8 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Green
  • London North GLH
Phenotypes
  • Parkinson disease 6, early onset, 605909
  • Dystonia
OMIM
608309
Clinvar variants
Variants in PINK1
Penetrance
None
Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PINK1 were changed from Parkinson disease 6, early onset; Dystonia to Parkinson disease 6, early onset, 605909; Dystonia

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to PINK1. Mode of inheritance for gene PINK1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Parkinson disease 6, early onset; Dystonia for gene: PINK1

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PINK1 was added gene: PINK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PINK1 was set to