ISCA-37446-Gain

22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
608363, intellectual disability and congenital abnormalities,Autism, chromosome 22q11.2 microduplication, heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal