1. Genes and Genomic Entities
  2. ATP2B2

ATP2B2

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber ATP2B2 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.30
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • cerebellar ataxia, MONDO:0000437
    • epilepsy, MONDO:0005027
    • intellectual disability,MONDO:0001071
    • inherited dystonia, MONDO:0044807
    Tags
    • Q3_26_NHS_review
    • Q3_26_promote_green
    Green ATP2B2 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.42
    Latest signed off version: v6.34 (12 Aug 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
    Amber ATP2B2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.72
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • cerebellar ataxia, MONDO:0000437
    • epilepsy, MONDO:0005027
    • intellectual disability,MONDO:0001071
    • inherited dystonia, MONDO:0044807
    Tags
    • Q3_26_NHS_review
    • Q3_26_promote_green
    Amber ATP2B2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.17
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • cerebellar ataxia, MONDO:0000437
    • epilepsy, MONDO:0005027
    • intellectual disability,MONDO:0001071
    • inherited dystonia, MONDO:0044807
    Tags
    • Q3_26_NHS_review
    • Q3_26_promote_green
    Amber ATP2B2 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • cerebellar ataxia, MONDO:0000437
    • epilepsy, MONDO:0005027
    • intellectual disability,MONDO:0001071
    • inherited dystonia, MONDO:0044807
    Tags
    • watchlist