ATP1A2

ATPase Na+/K+ transporting subunit alpha 2
OMIM: 182340, Gene2Phenotype

19 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Green ATP1A2 in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.48	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Migraine, familial hemiplegic, 2, 602481 Alternating hemiplegia of childhood 1, 104290 Hypokalaemic periodic paralysis
Amber ATP1A2 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes hydrops fetalis microcephaly arthrogryposis extensive cortical malformations
Green ATP1A2 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes familial hemiplegic migraine type 2, 602481 familial basilar migraine 602481 alternating hemiplegia of childhood 104290 Tags treatable
Red ATP1A2 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia migraine
Green ATP1A2 in Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Cerebral small vessel disease coma encephalopathy Migraine, familial basilar 602481 Migraine, familial hemiplegic, 2 602481
Green ATP1A2 in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, OMIM:619602
Green ATP1A2 in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Migraine, familial hemiplegic, 2, 602481 Migraine, familial basilar, 602481 alternating hemiplegia of childhood 104290
Green ATP1A2 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency
Red ATP1A2 in Skeletal muscle channelopathy Level 2: Neurology Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London North GLH Phenotypes hypokalaemic periodic paralysis MONDO:0008223
Green ATP1A2 in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
Red ATP1A2 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia alternating hemiplegia of childhood 104290 familial basilar migraine 602481 migraine familial hemiplegic migraine type 2, 602481 Tags treatable
Green ATP1A2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes hydrops fetalis microcephaly arthrogryposis extensive cortical malformations
Green ATP1A2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP1A2-related epileptic encephalopathy MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy Tags de novo
Red ATP1A2 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Alternating hemiplegia of childhood, 104290Migraine, familial basilar, 602481Migraine, familial hemiplegic, 2, 602481
Green ATP1A2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Phenotypes Alternating hemiplegia of childhood 1, 104290 Migraine, familial basilar, 602481 Migraine, familial hemiplegic, 2, 602481 benign familial infantile convulsions epilepsy and migraine occipitotemporal epilepsy infantile epileptic syndrome
Green ATP1A2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Migraine, familial hemiplegic, 2 602481 Alternating hemiplegia of childhood 1, 104290
Green ATP1A2 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Phenotypes Alternating hemiplegia of childhood 1, 104290 Familial hemiplegic migraine 2, 602481 Tags treatable
Green ATP1A2 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes familial basilar migraine OMIM:602481 familial hemiplegic migraine type 2 OMIM:602481 migraine, familial hemiplegic, 2 MONDO:0011232 alternating hemiplegia of childhood OMIM:104290 alternating hemiplegia of childhood 1 MONDO:0007087
Green ATP1A2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources PanelApp Expert Review Green London North GLH Phenotypes familial basilar migraine 602481 familial hemiplegic migraine type 2, 602481 alternating hemiplegia of childhood 104290 Dystonia migraine

ATP1A2

19 panels

Green ATP1A2 in Skeletal Muscle Channelopathies

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Phenotypes

Amber ATP1A2 in Fetal hydrops

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Phenotypes

Green ATP1A2 in Brain channelopathy

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Phenotypes

Tags

Red ATP1A2 in Early onset dystonia

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Phenotypes

Green ATP1A2 in Familial cerebral small vessel disease

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Phenotypes

Green ATP1A2 in Malformations of cortical development

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Phenotypes

Green ATP1A2 in Paroxysmal central nervous system disorders

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Phenotypes

Green ATP1A2 in Arthrogryposis

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Phenotypes

Red ATP1A2 in Skeletal muscle channelopathy

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Phenotypes

Green ATP1A2 in Severe microcephaly

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Phenotypes

Red ATP1A2 in Adult onset neurodegenerative disorder

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Phenotypes

Tags

Green ATP1A2 in Fetal anomalies

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Phenotypes

Green ATP1A2 in DDG2P

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Phenotypes

Tags

Red ATP1A2 in Monogenic hearing loss

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Phenotypes

Green ATP1A2 in Early onset or syndromic epilepsy

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Phenotypes

Green ATP1A2 in Intellectual disability

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Phenotypes

Green ATP1A2 in Hereditary ataxia with onset in adulthood

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Phenotypes

Tags

Green ATP1A2 in Adult onset dystonia, chorea or related movement disorder

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Phenotypes

Green ATP1A2 in Childhood onset dystonia, chorea or related movement disorder

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Phenotypes