Genomics England
GMS Panels
Panels
Genes and Entities

EPS8

epidermal growth factor receptor pathway substrate 8
OMIM: 600206
PanelMode of inheritanceDetails
1 panel
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Deafness, autosomal recessive 102, 615974, Deafness, prelingual, profound (affects all frequencies)