USP48

ubiquitin specific peptidase 48
OMIM: 617445, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green USP48 in Mendeliome


Version 1.1891

review 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 1.194

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

Green USP48 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.63

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