1. Genes and Genomic Entities
  2. ATP2B2

ATP2B2

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red ATP2B2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber ATP2B2 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert
    • UKGTN
    Phenotypes
    • {Deafness, autosomal recessive 12, modifier of}, OMIM:601386
    • Deafness, autosomal dominant 82, OMIM:619804
    • hearing loss, autosomal dominant 82, MONDO:0030719
    Tags
    • Q2_23_promote_green
    • Q2_23_NHS_review