PanelApp
  1. Genes and Genomic Entities
  2. USP53

USP53

ubiquitin specific peptidase 53
OMIM: 617431, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green USP53 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658

    Green USP53 in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658

    Amber USP53 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.238

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658