CSNK1E_FRA22A_CGG

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CSNK1E_FRA22A_CGG STR in Mendeliome


Version 2.636

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • CSNK1E-related progressive myoclonic epilepsy and developmental and epileptic encephalopathy

Amber CSNK1E_FRA22A_CGG STR in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.47

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • CSNK1E-related progressive myoclonic epilepsy and developmental and epileptic encephalopathy

    Amber CSNK1E_FRA22A_CGG STR in Repeat Disorders


    Version 1.15

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • CSNK1E-related progressive myoclonic epilepsy and developmental and epileptic encephalopathy