Parkinson Disease and Complex Parkinsonism
Gene: PANK2Comment 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.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for PANK2 were set to Early Onset Complex Disease; Dystonia; pantothenate kinase-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 1;234200
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PANK2 was added to Parkinson Disease and Complex Parkinsonismpanel. Source: Exper
PANK2 was created by ellenmcdonagh
PANK2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list