1. Genes and Genomic Entities
  2. USP53

USP53

ubiquitin specific peptidase 53
OMIM: 617431, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green USP53 in Cholestasis


Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Paediatric cholestatic liver disease
  • Cholestasis
  • deafness