1. Genes and Genomic Entities
  2. ATP2B1

ATP2B1

ATPase plasma membrane Ca2+ transporting 1
OMIM: 108731, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ATP2B1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATP2B1-related neurodevelopmental disorder
    Amber ATP2B1 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, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 66, OMIM:619910
    Tags
    • Q1_26_promote_green
    • Q1_26_NHS_review
    Green ATP2B1 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
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 66, OMIM:619910
    Tags
    • watchlist_moi