1. Genes and Genomic Entities
  2. ISCA-46296-Loss

ISCA-46296-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber ISCA-46296-Loss 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 Amber
    • ClinGen
    Phenotypes
    • Developmental delays, intellectual disability, brain anomalies, non-specific craniofacial abnormalities, hypotonia, ocular abnormalities, hearing loss, and other variable clinical features
    Tags
    • Q3_25_promote_green