This Panel is marked as Internal
Early onset and familial Parkinson's Disease
Gene: ATP13A2
ATP13A2 (ATPase 13A2)
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 20 panels
1 review
Ellen McDonagh (Genomics England Curator)
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
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Parkinson disease 9, 606693
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- Complete
- Panels with this gene
-
- Lysosomal storage disorder
- Structural basal ganglia disorders
- Adult onset neurodegenerative disorder
- Neuronal ceroid lipofuscinosis
- Retinal disorders
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Fetal anomalies
- Parkinson Disease and Complex Parkinsonism
- Childhood onset hereditary spastic paraplegia
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Likely inborn error of metabolism
History Filter Activity
9 Jun 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ATP13A2 was changed to BIALLELIC, autosomal or pseudoautosomal
9 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATP13A2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen