Parkinson Disease and Complex Parkinsonism
Gene: PANK2

PANK2 (pantothenate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 12 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hallervorden-Spatz disease

Publications

Created: 29 Nov 2016, 3:30 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 cases/families reported in OMIM with different variants in patients with Neurodegeneration with brain iron accumulation 1, which includes Parkinsonism as a clinical feature. Also green on the Early onset dystonia gene panel, Version 1.0.
Created: 2 Nov 2016, 1:32 p.m.

Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Also in the GeneReviews Neurodegeneration with Brain Iron Accumulation Disorders Overview, list of the genetic basis of ten types of NBIA (http://www.ncbi.nlm.nih.gov/books/NBK121988/)
Created: 10 Jun 2016, 11:15 a.m.

Created: 10 Jun 2016, 11:15 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.30

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Exper
Expert list

Phenotypes

Early Onset Complex Disease
Dystonia
pantothenate kinase-associated neurodegeneration
Dystonia
Neurodegeneration with brain iron accumulation 1
234200

OMIM

606157

Clinvar variants

Variants in PANK2

Penetrance

Complete

Panels with this gene