Parkinson Disease and Complex Parkinsonism
Gene: ATP13A2EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 20 panels
3 reviews
David Collier (King's College London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome; spastic paraplegia-78 (SPG78); juvenile-onset atypical Parkinson disease; supranuclear gaze palsy; spasticity; dementia; spastic paraplegia; brain iron accumulation
Publications
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kufor-Rakeb syndrome
Publications
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Parkinson disease 9, 606693
- Kufor-Rakeb Syndrome
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Neuronal ceroid lipofuscinosis
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Retinal disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Early onset dystonia
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Glaucoma (developmental)
- Childhood onset hereditary spastic paraplegia
- Lysosomal storage disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)ATP13A2 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)ATP13A2 was created by ellenmcdonagh