ISCA-37439-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ISCA-37439-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
    • Expert Review Green
    • ClinGen
    Phenotypes
    • 28300815
    • Chromosome Xq duplication syndrome