Dystonia - isolated/combined
Gene: ATP1A3EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive non-paroxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction.
Heterozygous variants in the ATP1A3 gene can also cause 2 other neurologic disorders that share some clinical features: alternating hemiplegia of childhood-2 and CAPOS syndrome.
Over 20 families reported.Created: 28 Apr 2021, 9:14 a.m. | Last Modified: 28 Apr 2021, 9:14 a.m.
Panel Version: 0.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia-12, MIM# 128235; Rapid dystonia-parkinsonism MONDO:0007496
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Dystonia-12, MIM# 128235
- Rapid dystonia-parkinsonism MONDO:0007496
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp1a3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP1A3 were changed from DYSTONIA 12, 128235; Rapid-Onset Dystonia-Parkinsonism; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Dystonia-12, 128235 to Dystonia-12, MIM# 128235; Rapid dystonia-parkinsonism MONDO:0007496
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP1A3 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP1A3 was added gene: ATP1A3 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A3 were set to DYSTONIA 12, 128235; Rapid-Onset Dystonia-Parkinsonism; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Dystonia-12, 128235