Ataxia - adult onset
Gene: ATP1A2EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 16 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Progressive chronic ataxia was exclusively found in 26 patients with a pathogenic CACNA1A mutation, and not in patients with ATP1A2 in a large study of 208 patients with a genetic cause of hemiplegic migraine.Created: 4 Feb 2020, 11:35 p.m. | Last Modified: 4 Feb 2020, 11:35 p.m.
Panel Version: 0.17
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ataxia is not a prominent feature of this condition.Created: 27 Dec 2019, 4:12 a.m. | Last Modified: 27 Dec 2019, 4:12 a.m.
Panel Version: 0.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating hemiplegia of childhood 1, MIM#104290
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Alternating hemiplegia of childhood 1, 104290
- Familial hemiplegic migraine 2, 602481
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- None
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Microcephaly
- Brain Channelopathies
- BabyScreen+ newborn screening
- Alternating Hemiplegia and Hemiplegic Migraine
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Arthrogryposis
- Mendeliome
- Polymicrogyria and Schizencephaly
- Cerebral Palsy
- Skeletal Muscle Channelopathies
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp1a2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp1a2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp1a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP1A2 was added gene: ATP1A2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A2 were set to Alternating hemiplegia of childhood 1, 104290; Familial hemiplegic migraine 2, 602481