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  1. Genes and Genomic Entities
  2. CSTB_EPM1_CCCCGCCCCGCG

CSTB_EPM1_CCCCGCCCCGCG

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CSTB_EPM1_CCCCGCCCCGCG STR in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.145

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 - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.46

    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 CSTB_EPM1_CCCCGCCCCGCG STR in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.21

    		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 0.256

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