Paroxysmal central nervous system disorders
Gene: ATP1A2EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
MigraineCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Migraine, familial basilar, 602481; Migraine, familial hemiplegic, 2, 602481; alternating hemiplegia of childhood 1, 104290
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Migraine, familial hemiplegic, 2, 602481
- Migraine, familial basilar, 602481
- alternating hemiplegia of childhood 104290
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal muscle channelopathy
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Arthrogryposis
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Familial cerebral small vessel disease
- Severe microcephaly
- Paroxysmal central nervous system disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: ATP1A2 were changed from Migraine, familial hemiplegic, 2, 602481; Migraine, familial basilar, 602481alternating hemiplegia of childhood 104290 to Migraine, familial hemiplegic, 2, 602481; Migraine, familial basilar, 602481; alternating hemiplegia of childhood 104290
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: ATP1A2 were changed from familial basilar migraine 602481; alternating hemiplegia of childhood 104290; familial hemiplegic migraine type 2, 602481 to Migraine, familial hemiplegic, 2, 602481; Migraine, familial basilar, 602481alternating hemiplegia of childhood 104290
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: atp1a2 has been classified as Green List (High Evidence).
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: ATP1A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to ATP1A2.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to ATP1A2.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to ATP1A2.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 for gene: ATP1A2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ATP1A2 was added gene: ATP1A2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581 Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290