This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
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)
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.Created: 10 Jun 2016, 11 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Kufor-Rakeb Syndrome
- Parkinson disease 9, 606693
- 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
10 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: 2
Added New Source
Ellen McDonagh (Genomics England Curator)ATP13A2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Radboud University Medical Center, Nijmegen
24 Jul 2015, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ATP13A2 was changed to BIALLELIC, autosomal or pseudoautosomal
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATP13A2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATP13A2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert