USP45

ubiquitin specific peptidase 45
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green USP45 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leber congenital amaurosis
  • retinal dystrophy

Green USP45 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Lebers congenital amaurosis

    Green USP45 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.23

    3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Literature
    Phenotypes
    • Leber congenital amaurosis
    • retinal dystrophy