USP45

ubiquitin specific peptidase 45
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red USP45 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green USP45 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195 (5 Aug 2021)

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