ISCA-37439-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37439-Gain Region in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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