USP53

ubiquitin specific peptidase 53
OMIM: 617431, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green USP53 in Cholestasis


Version 1.110
Latest signed off version: v1.21 (20 Aug 2020)

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