Early onset dystonia
Gene: ATP13A2EnsemblGeneIds (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, 8:09 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. Is 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, 7:01 a.m.
Comment on mode of inheritance: Source: OMIM and Gene2Phenotype.Created: 9 Jun 2016, 11:52 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- Parkinson disease
- Kufor-Rakeb syndrome
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Retinal disorders
- DDG2P
- Neuronal ceroid lipofuscinosis
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Hereditary spastic paraplegia
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
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).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ATP13A2 were set to Dystonia; Parkinson disease; Kufor-Rakeb syndrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ATP13A2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ATP13A2 were set to Dystonia; Parkinson disease
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()ATP13A2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory