USP53:Ensemblv115

ubiquitin specific peptidase 53
OMIM: 617431, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green USP53 in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
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 2.0

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