ISCA-46743-Loss

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ISCA-46743-Loss Region in Holoprosencephaly


Level 2: Neurology
Version 6.1
Latest signed off version: v6.0 (6 May 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • 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
    Amber ISCA-46743-Loss Region in Severe microcephaly


    Level 2: Neurology
    Version 9.3
    Latest signed off version: v9.0 (6 May 2026)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • ClinGen
    Green ISCA-46743-Loss 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