ISCA-46299-Gain

Xp11.22 region (includes HUWE1) Gain
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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)