USP45:Ensemblv115

ubiquitin specific peptidase 45
OMIM: 618439, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green USP45 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

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

Green USP45 in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 2.0

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