USP53

ubiquitin specific peptidase 53
OMIM: 617431, Gene2Phenotype

1 panel

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


Level 2: Gastrohepatology
Version 4.5
Latest signed off version: v4.0 (6 May 2026)

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