Genomics England
GMS Panels
Panels
Genes and Entities

DFNA5

gasdermin E
OMIM: 608798
PanelMode of inheritanceDetails
1 panel
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.23
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nonsyndromic Hearing Loss, Mixed, #600994:Deafness, autosomal dominant 5, hearing loss