USP45

ubiquitin specific peptidase 45
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green USP45 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lebers congenital amaurosis
  • retinal dystrophy
  • ?Leber congenital amaurosis 19, OMIMM:618513
Tags
  • gene-checked