Monogenic hearing loss
Gene: ATP1A2EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels
2 reviews
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
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
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Alternating hemiplegia of childhood, 104290Migraine, familial basilar, 602481Migraine, familial hemiplegic, 2, 602481
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- Complete
- Panels with this gene
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- Early onset or syndromic epilepsy
- Skeletal muscle channelopathy
- Severe microcephaly
- Fetal hydrops
- Malformations of cortical development
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Fetal anomalies
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)ATP1A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen