Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37397-Loss

22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) 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 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
diaphragmatic hernia, mild skeletal abnormalities, uterine didelphys, 611867, DiGeorge syndrome (DGS), clinodactyly, velocardiofacial syndrome, ADHD, Goldenhar syndrome, prematurity, developmental delay, micropephaly, cardiovascular defects, Seizures, global developmental delay, language delay, prenatal and postnatal growth delay, Hyptonia