Genes in panel

Adult onset 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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.

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

Green List (high evidence)

Details

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

History Filter Activity

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PINK1.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PINK1.

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PINK1 was added gene: PINK1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PINK1 were set to Parkinson Disease 6, Autosomal Recessive Early-Onset; Parkinson disease 6, early onset, 605909; Dystonia