USP48

ubiquitin specific peptidase 48
OMIM: 617445, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green USP48 in Mendeliome


Version 1.3795

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Deafness, autosomal dominant 85, MIM# 620227

Green USP48 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Deafness, autosomal dominant 85, MIM# 620227