Genomics England
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Genes and Entities

ISCA-37494-Gain

Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) 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 5.343
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Chromosome Xq28 duplication syndrome, 300815, X linked intellectual disability (XLID), PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features, duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes, PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip), PMID:24357492 Cognitive impairment in male patients