PanelApp (stage)
  1. Genes and Genomic Entities
  2. EPM1

EPM1

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green EPM1 STR in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.16

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
    Tags
    • STR

    Green EPM1 STR in Repeat Disorders


    Version 0.167

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
    Tags
    • paediatric-onset