PPIP5K2

diphosphoinositol pentakisphosphate kinase 2
OMIM: 611648, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PPIP5K2 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Deafness, autosomal recessive 100, MIM#618422
    • deafness, autosomal recessive 100 MONDO:0032740