1. Genes and Genomic Entities
  2. ISCA-37392-Gain

ISCA-37392-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ISCA-37392-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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • intellectual disability
    • 609757
    • behavior problems
    • abnormal gait and station
    • cardiovascular disease
    • phonologic disorders
    • distinctive facial features
    • neurologic abnormalities
    • speech sound disorders