Genomics England
GMS Panels
Panels
Genes and Entities

USP48

ubiquitin specific peptidase 48
OMIM: 617445
PanelMode of inheritanceDetails
1 panel
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
non-syndromic hearing loss, nonsyndromic genetic deafness, MONDO:0019497, Deafness, autosomal dominant 85, OMIM:620227