Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37433-Gain

22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
608363, Chromosome 22q11.2 microduplication syndrome, dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement, delayed psychomotor development, growth retardation, and/or hypotonia