PanelApp
  1. Genes and Genomic Entities
  2. ENO3

ENO3

enolase 3
OMIM: 131370, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ENO3 in Glycogen Storage Diseases


Level 2: Metabolic disorders
Version 1.3

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease XIII, MIM#612932

    Green ENO3 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013046

    Green ENO3 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Glycogen storage disease XIII 612932