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 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 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)