PanelApp (test)
  1. Genes and Genomic Entities
  2. WDR48

WDR48

WD repeat domain 48
OMIM: 612167, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red WDR48 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 Red
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia