Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37397-Gain

22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) 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
seizures, failure to thrive, ADHD, heart defects, speech disturbances, hypernasal speech, hearing impariment, abnormal behaviour, developmental delay, hypotonia, micro- or macrocephaly