SAMD12_TTTCA

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red SAMD12_TTTCA STR in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Epilepsy, familial adult myoclonic, 1, OMIM:601068
    • epilepsy, familial adult myoclonic, 1, MONDO:0010985
    Tags
    • STR
    • NGS Not Validated