1. Genes and Genomic Entities
  2. ATP2B2

ATP2B2

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ATP2B2 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

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