1. Genes and Genomic Entities
  2. ATP2B2

ATP2B2

ATPase plasma membrane Ca2+ transporting 2
OMIM: 108733, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
No list ATP2B2 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 9.10
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review
    Phenotypes
    • Global Developmental Delay
    • Delayed Motor Development
    • Ataxia
    • Impaired Speech
    • Intellectual Disability
    • Cerebellar Atrophy
    • Behavioural Issues
    • Seizures
    • Hypotonia
    • Dysmorphic Features
    • Hearing Abnormalities
    • Ophthalmological Abnormalities
    Green ATP2B2 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.25
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    • UKGTN
    Phenotypes
    • {Deafness, autosomal recessive 12, modifier of}, OMIM:601386
    • Deafness, autosomal dominant 82, OMIM:619804
    • hearing loss, autosomal dominant 82, MONDO:0030719
    No list ATP2B2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.23
    Latest signed off version: v9.0 (6 May 2026)

    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
    Phenotypes
    • Global Developmental Delay
    • Delayed Motor Development
    • Ataxia
    • Impaired Speech
    • Intellectual Disability
    • Cerebellar Atrophy
    • Behavioural Issues
    • Seizures
    • Hypotonia
    • Dysmorphic Features
    • Hearing Abnormalities
    • Ophthalmological Abnormalities
    No list ATP2B2 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.46
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review
    Phenotypes
    • Global Developmental Delay
    • Delayed Motor Development
    • Ataxia
    • Impaired Speech
    • Intellectual Disability
    • Cerebellar Atrophy
    • Behavioural Issues
    • Seizures
    • Hypotonia
    • Dysmorphic Features
    • Hearing Abnormalities
    • Ophthalmological Abnormalities