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Hearing loss

Gene: ATP1A2

Red List (low evidence)

ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 17 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#104290:Alternating hemiplegia of childhood[Abnormal extraocular movementsNystagmusUpward eye deviation during episodes; Hemiplegia, episodicQuadriplegia, episodicCognitive decline, progressiveMental retardationDystoniaChoreoathetosisAutonomic involvement affecting limbs during episodesGeneralized tonic-clonic seizures in 50%Neurologic regression after prolonged episodesHeadache is usually not a symptom]; #602481:Migraine, familial hemiplegic, 2[Hemianopic blurring of vision; MigraineMigraine with auraHemiparesisHemiplegiaHemihypoasthesiaSeizures (less common)DrowsinessConfusionComa (less common)DysphasiaAphasiaUnusual aura symptoms include alien limb phenomenon, diplopia, apraxia, dysarthria, impaired hearing, vertigoDiffuse brain swelling occurs during comaIctal EEG shows diffuse slow delta and theta activityCerebellar signs during episodesCerebellar ataxia during episodesMental retardation (less common); Fever]

Publications

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP1A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen