USP48:Ensemblv115

ubiquitin specific peptidase 48
OMIM: 617445, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green USP48 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

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

Green USP48 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

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