ISCA-37397-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ISCA-37397-Gain Region in Intellectual disability


Level 2: Developmental disorders
Version 9.370
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • seizures
    • failure to thrive
    • ADHD
    • heart defects
    • speech disturbances
    • hypernasal speech
    • hearing impariment
    • abnormal behaviour
    • developmental delay
    • hypotonia
    • micro- or macrocephaly