Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37421-Loss

1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) 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 5.343
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
dysmorphic features, 612474, Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts, mild to moderate developmental delay