PanelApp (stage)
  1. Genes and Genomic Entities
  2. USP8

USP8

ubiquitin specific peptidase 8
OMIM: 603158, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green USP8 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pituitary adenoma 4, ACTH-secreting, somatic MIM#219090
  • hereditary spastic paraplegia
Tags
  • somatic

Amber USP8 in Hereditary Spastic Paraplegia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.76

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Complicated hereditary spastic paraplegia