FAME1

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FAME1 STR in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, familial adult myoclonic, 1 MIM#601068

No list FAME1 STR in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Epilepsy, familial adult myoclonic, 1 MIM#601068

    Green FAME1 STR in Repeat Disorders


    Version 0.167

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, familial adult myoclonic, 1 MIM#601068
    Tags
    • adult-onset