ISCA-46743-Gain

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-46743-Gain Region in Early onset or syndromic epilepsy


Level 2: Neurology
Version 9.5
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • ClinGen
    • Expert Review Green
    Green ISCA-46743-Gain Region in Intellectual disability


    Level 2: Developmental disorders
    Version 10.16
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • ClinGen
    • Expert Review Green