Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37400-Gain

16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) 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
614671, intellectual disability, delayed development, autism, specific deficits in speech or language