Brain channelopathy
Gene: ATP1A2EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels
3 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIMCreated: 21 Feb 2017, 2:28 p.m.
Comment when marking as ready: Changed penetrance to incomplete. Added 'treatable' tag.Created: 17 Jan 2017, 2:18 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
familial hemiplegic migraine type 2; familial basilar migraine; alternating hemiplegia of childhood
Publications
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Source: OMIM.Created: 10 Jun 2016, 3:29 p.m.
Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 3:17 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- familial hemiplegic migraine type 2, 602481
- familial basilar migraine 602481
- alternating hemiplegia of childhood 104290
- Tags
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- Incomplete
- 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
Arianna Tucci (Genomics England Curator)Phenotypes for ATP1A2 were set to familial hemiplegic migraine type 2, 602481; familial basilar migraine 602481; alternating hemiplegia of childhood 104290
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for ATP1A2 were set to familial hemiplegic migraine type 2; familial basilar migraine; alternating hemiplegia of childhood
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for ATP1A2 were set to MIGRAINE, FAMILIAL HEMIPLEGIC, 2; ALTERNATIN G HEMIPLEGIA OF CHILDHOOD 1; familial hemiplegic migraine type 2; familial basilar migraine; alternating hemiplegia of childhood
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for ATP1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for ATP1A2 were set to 12539047; 12953268; 18056581
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ATP1A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ATP1A2 was added to Brain channelopathypanel. Sources: UKGTN