Familial cerebral small vessel disease
Gene: ATP1A2EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Numerous variants reported for this phenotypeCreated: 1 Jul 2016, 5:03 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 1 Jul 2016, 4:51 p.m.
Rhea Tan (University of Cambridge)
Some evidence for changes in cerebral blood flow due to ATP1A2 mutations in patients with Familial Hemiplegic Migraine Type 2.Created: 24 Jun 2016, 9:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Hemiplegic Migraine; Migraine; Cerebral small vessel disease; coma; encephalopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Cerebral small vessel disease
- coma
- encephalopathy
- Migraine, familial basilar 602481
- Migraine, familial hemiplegic, 2 602481
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- 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
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Familial cerebral small vessel disease
- Severe microcephaly
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATP1A2 were set to Cerebral small vessel disease; coma; encephalopathy; Migraine, familial basilar 602481; Migraine, familial hemiplegic, 2 602481
Set publications
Sarah Leigh (Genomics England Curator)Publications for ATP1A2 were set to 25948653; 25411546; 19838529
Upload gene information
Sarah Leigh (Genomics England Curator)ATP1A2 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)ATP1A2 was added to Familial cerebral small vessel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATP1A2 were set to Migraine; familial hemiplegic migraine 2; cerebral small vessel disease; Migraine, familial basilar 602481
Added New Source
Rhea Tan (University of Cambridge)ATP1A2 was added to Familial cerebral small vessel diseasepanel. Sources: Literature
Created
Rhea Tan (University of Cambridge)ATP1A2 was created by rheatan