PanelApp (stage)
  1. Genes and Genomic Entities
  2. FBXO38

FBXO38

F-box protein 38
OMIM: 608533, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber FBXO38 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, distal hereditary motor, type IID, 615575
  • dHMN/dSMA

Amber FBXO38 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Neuronopathy, distal hereditary motor, type IID, 615575
    • dHMN/dSMA