Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37400-Loss

16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss
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 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
seizures, intellectual disability, Chiari malformations, cerebellar ectopia, 611913, mental retardation, Macrocephaly, developmental delay, autism spectrum disorder (ASD), vertebral anomalies