1. Panels
  2. Complex Parkinsonism (includes pallido-pyramidal syndromes)
  3. PINK1
STRs in panel
Prev Next
Regions in panel
Prev Next

Complex Parkinsonism (includes pallido-pyramidal syndromes)

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is on the Parkinson's Disease NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 10:28 a.m.
Created: 10 Jun 2016, 10:28 a.m.

Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 6, early onset, 605909
  • Parkinson Disease, Recessive
  • Parkinson Disease 6, Autosomal Recessive Early-Onset
OMIM
608309
Clinvar variants
Variants in PINK1
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PINK1 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PINK1 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: UKGTN

24 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PINK1 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PINK1 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Illumina TruGenome Clinical Sequencing Services

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PINK1 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Radboud University Medical Center, Nijmegen