Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-46292-Loss

22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) 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