Early-onset Parkinson disease
Gene: ATP1A3EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Parkinsonism is a major feature of the conditionCreated: 16 Feb 2024, 8:56 a.m. | Last Modified: 16 Feb 2024, 8:56 a.m.
Panel Version: 0.269
Kaitlyn Dianna Weldon (University of Melbourne)
A well-established gene for Parkinson's diseaseCreated: 24 Aug 2023, 11:36 p.m. | Last Modified: 24 Aug 2023, 11:36 p.m.
Panel Version: 0.243
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ATP1A3-associated neurological disorder MONDO:0700002
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- ATP1A3-associated neurological disorder MONDO:0700002
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Brain Channelopathies
- Dystonia - isolated/combined
- BabyScreen+ newborn screening
- Alternating Hemiplegia and Hemiplegic Migraine
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Mendeliome
- Polymicrogyria and Schizencephaly
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp1a3 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: ATP1A3 were changed from to ATP1A3-associated neurological disorder MONDO:0700002
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: ATP1A3 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp1a3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP1A3 was added gene: ATP1A3 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: ATP1A3 was set to Unknown