USP8:Ensemblv115

ubiquitin specific peptidase 8
OMIM: 603158, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber USP8 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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