CSTB_EPM1_CCCCGCCCCGCG

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CSTB_EPM1_CCCCGCCCCGCG STR in Incidentalome


Version 1.48

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

Green CSTB_EPM1_CCCCGCCCCGCG STR in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.47

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800

    Green CSTB_EPM1_CCCCGCCCCGCG STR in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.187

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
    Tags
    • STR

    Green CSTB_EPM1_CCCCGCCCCGCG STR in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green CSTB_EPM1_CCCCGCCCCGCG STR in Repeat Disorders


    Version 1.15

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