1. Genes and Genomic Entities
  2. ISCA-37430-Gain

ISCA-37430-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ISCA-37430-Gain Region in Intellectual disability


Level 2: Developmental disorders
Version 9.285
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
    • 613215
    • Chromosome 17p13.3 duplication syndrome
    • variable psychomotor delay and dysmorphic features
    • 17q11.2 microduplication syndrome