Familial cerebral small vessel disease
Gene: ATP1A2Comment 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.
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
Phenotypes for ATP1A2 were set to Cerebral small vessel disease; coma; encephalopathy; Migraine, familial basilar 602481; Migraine, familial hemiplegic, 2 602481
Publications for ATP1A2 were set to 25948653; 25411546; 19838529
ATP1A2 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ATP1A2 was added to Familial cerebral small vessel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for ATP1A2 were set to Migraine; familial hemiplegic migraine 2; cerebral small vessel disease; Migraine, familial basilar 602481
ATP1A2 was added to Familial cerebral small vessel diseasepanel. Sources: Literature
ATP1A2 was created by rheatan