ATP1A2

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

20 panels

Panel Reviews Mode of inheritance Details
20 panels
Green ATP1A2 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46

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 1.64

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 1.80

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 1.147

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 1.17

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.5
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Cerebral malformation
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • hydrops fetalis
    • microcephaly
    • arthrogryposis
    • extensive cortical malformations
    Green ATP1A2 in Paroxysmal central nervous system disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.7
    Latest signed off version: v6.0 (1 May 2024)

    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


    Version 3.5
    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 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.8
    Latest signed off version: v5.0 (1 May 2024)

    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


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • hydrops fetalis
    • microcephaly
    • arthrogryposis
    • extensive cortical malformations
    Green ATP1A2 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    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
    Red ATP1A2 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.14
    Latest signed off version: v5.0 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.24
    Latest signed off version: v6.0 (1 May 2024)

    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


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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


    Version 3.19
    Latest signed off version: v3.12 (31 Jul 2023)

    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


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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
    Green ATP1A2 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alternating hemiplegia of childhood 1, 104290
    • Migraine, familial basilar, 602481
    • Migraine, familial hemiplegic, 2, 602481