Skeletal Muscle Channelopathies
Gene: ATP1A2
ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Gene is classically associated with brain phenotypes such as alternating hemiplegia, but single report of hypokalaemia periodic paralysis with supporting functional data.
Sources: Expert listCreated: 20 Aug 2020, 8:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypokalaemic periodic paralysis
Publications
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Hypokalaemic periodic paralysis
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- None
- Publications
- 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
20 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp1a2 has been classified as Red List (Low Evidence).
20 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP1A2 was added gene: ATP1A2 was added to Skeletal Muscle Channelopathies. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to 30423015 Phenotypes for gene: ATP1A2 were set to Hypokalaemic periodic paralysis Review for gene: ATP1A2 was set to RED