Genomics England
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Panels
Genes and Entities

ISCA-37439-Gain

Xq28 recurrent region (includes GDI1) Gain
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
28300815, Chromosome Xq duplication syndrome