USP48

ubiquitin specific peptidase 48
OMIM: 617445, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green USP48 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • non-syndromic hearing loss
    • nonsyndromic genetic deafness, MONDO:0019497