ATP1A2

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

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green ATP1A2 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.30

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 1.26

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 1.66

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 1.93

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 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Cerebral small vessel disease
  • coma
  • encephalopathy
  • Migraine, familial basilar 602481
  • Migraine, familial hemiplegic, 2 602481

Amber ATP1A2 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.44
Latest signed off version: v2.2 (25 Feb 2020)

Component of the following Super Panels:

  • Cerebral malformations
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • hydrops fetalis
    • microcephaly
    • arthrogryposis
    • extensive cortical malformations
    Tags
    • for-review

    Green ATP1A2 in Paroxysmal central nervous system disorders


    Version 1.15
    Latest signed off version: v1.14 (16 Dec 2021)

    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

    Amber ATP1A2 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.76
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency
    Tags
    • for-review

    Green ATP1A2 in Skeletal muscle channelopathy


    Version 1.24
    Latest signed off version: v1.23 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Migraine, familial hemiplegic, 2, 602481
    • Alternating hemiplegia of childhood 1, 104290
    • Hypokalaemic periodic paralysis

    Amber ATP1A2 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.103
    Latest signed off version: v2.2 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
    Tags
    • for-review

    Red ATP1A2 in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    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

    Amber ATP1A2 in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • hydrops fetalis
    • microcephaly
    • arthrogryposis
    • extensive cortical malformations
    Tags
    • for-review

    Red ATP1A2 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.159
    Latest signed off version: v2.158 (29 Jun 2021)

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    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

    Amber ATP1A2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Migraine, familial hemiplegic, 2 602481
    • Alternating hemiplegia of childhood 1, 104290
    Tags
    • for-review

    Green ATP1A2 in Hereditary ataxia - adult onset


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    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 movement disorder


    Version 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    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 or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    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 1.66

    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