Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37415-Gain

16p13.11 recurrent region (includes MYH11) 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 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual disability, Developmental delay, Autism, Aortopathy