Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37392-Gain

7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) 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
intellectual disability, 609757, behavior problems, abnormal gait and station, cardiovascular disease, phonologic disorders, distinctive facial features, neurologic abnormalities, speech sound disorders