Brain Channelopathies
Gene: ATP1A2EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 23 Dec 2020, 7:56 a.m. | Last Modified: 23 Dec 2020, 7:56 a.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating hemiplegia of childhood 1, MIM# 104290
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Alternating hemiplegia of childhood 1, MIM# 104290
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp1a2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP1A2 were changed from to Alternating hemiplegia of childhood 1, MIM# 104290
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP1A2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ATP1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP1A2 was added gene: ATP1A2 was added to Channelopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP1A2 was set to Unknown