Parkinson Disease and Complex Parkinsonism
Gene: PLA2G6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodegeneration with brain iron accumulation; dystonia-parkinsonism
Comment on list classification: 4 family reports/unrelated cases with Parkinson Disease 14 reported in OMIM, and also green on the Early onset dystonia panel version 1.0.Created: 2 Nov 2016, 1:46 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. Is 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, 11:17 a.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PLA2G6 was added to Parkinson Disease and Complex Parkinsonismpanel. Source: Expert
PLA2G6 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen
PLA2G6 was created by ellenmcdonagh