Parkinson Disease and Complex Parkinsonism
Gene: ATP13A2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome
Publications
Comment on list classification: Also green on the early onset dystonia gene panel Version 1.0.Created: 28 Oct 2016, 12:22 p.m.
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.Created: 10 Jun 2016, 10:59 a.m.
Comment on list classification: Promoted from red to green due to feedback from Huw Morris (UCL). It is a "Both DD and IF" gene on Gene2Phenotype for Parkinson disease 9. Multiple cases with different variants reported on OMIM for Kufor-Rakeb syndrome.Created: 9 Jun 2016, 11:54 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).
ATP13A2 was added to Parkinson Disease and Complex Parkinsonismpanel. Source: Illumina TruGenome Clinical Sequencing Services ATP13A2 was added to Parkinson Disease and Complex Parkinsonismpanel. Source: Expert
ATP13A2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen
ATP13A2 was created by ellenmcdonagh