1. Genes and Genomic Entities
  2. ISCA-37498-Loss

ISCA-37498-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber ISCA-37498-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 delay/intellectual disability, dysmorphic features, dental anomalies, long slender fingers with 5th finger clinodactyly, and additional clinical features
    Tags
    • Q3_25_promote_green