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ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

HCNC Approved Symbol
ATP1A2 (HGNC:800)
Genomic Coordinates
1:160,115,759 - 160,143,591 (1q23.2)
Synonyms
FHM2, MHP2
Disease Associations
This gene is associated with the following 5 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Alternating hemiplegia of childhood 1
104290AD
Developmental and epileptic encephalopathy 98
619605AD
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
619602AR
Migraine, familial basilar
602481AD
Migraine, familial hemiplegic, 2
602481AD

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the ATP1A2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Stroke
 2 (28.6%)
Hypotonia
 2 (28.6%)
Pain
 
1 (14.3%)
Paresthesia
 
1 (14.3%)
Basal ganglia disease
 
1 (14.3%)