ISCA-46299-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ISCA-46299-Gain Region in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.453
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • X linked intellectual disability (XLID)
    • PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate
    • PMID:22840365 Mild intellectual disability
    • PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22)