EPS8

epidermal growth factor receptor pathway substrate 8
OMIM: 600206, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green EPS8 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 Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Deafness, autosomal recessive 102, 615974
    • Deafness, prelingual, profound (affects all frequencies)