Genomics England
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Genes and Entities

ISCA-37404-Gain

15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
chromosome 15q11-q13 duplication syndrome, include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems, 608636, delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected