Early-onset Parkinson disease
Gene: ATP13A2EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 14 panels
1 review
Kaitlyn Dianna Weldon (University of Melbourne)
This is a well-established Parkinson's disease gene.Created: 24 Aug 2023, 11:23 p.m. | Last Modified: 24 Aug 2023, 11:23 p.m.
Panel Version: 0.243
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
parkinsonism due to ATP13A2 deficiency MONDO:0017809
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- parkinsonism due to ATP13A2 deficiency MONDO:0017809
- OMIM
- 610513
- Clinvar variants
- Variants in ATP13A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Incidentalome
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Neurodegeneration with brain iron accumulation
- Fetal anomalies
- Prepair 1000+
- Dystonia - complex
- Ataxia - adult onset
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp13a2 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: ATP13A2 were changed from to parkinsonism due to ATP13A2 deficiency MONDO:0017809
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: ATP13A2 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP13A2 was added gene: ATP13A2 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: ATP13A2 was set to Unknown