Familial cerebral small vessel disease

Gene: ATP1A2

Green List (high evidence)

ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (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 phenotype
Created: 1 Jul 2016, 5:03 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 1 Jul 2016, 4:51 p.m.

Rhea Tan (University of Cambridge)

Red List (low evidence)

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

History Filter Activity

4 Jul 2016, Gel status: 4

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

4 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ATP1A2 were set to 25948653; 25411546; 19838529

1 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ATP1A2 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jul 2016, Gel status: 0

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

1 Jul 2016, Gel status: 0

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

22 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

ATP1A2 was added to Familial cerebral small vessel diseasepanel. Sources: Literature

22 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

ATP1A2 was created by rheatan