PanelApp
  1. Genes and Genomic Entities
  2. WDR48

WDR48

WD repeat domain 48
OMIM: 612167, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red WDR48 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hereditary spastic paraplegia MONDO:0015150

Red WDR48 in Hereditary Spastic Paraplegia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.102

Component of the following Super Panels:

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

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia