Genomics England
GMS Panels
Panels
Genes and Entities

USP53

ubiquitin specific peptidase 53
OMIM: 617431
PanelMode of inheritanceDetails
1 panel
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Paediatric cholestatic liver disease, Cholestasis, deafness