PPP3R1

protein phosphatase 3 regulatory subunit B, alpha
OMIM: 601302, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red PPP3R1 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
    • Literature
    Phenotypes
    • Deafness, autosomal dominant 58 MIM#615654