Genomics England
GMS Panels
Panels
Genes and Entities

ADD1

adducin 1
OMIM: 102680
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Ventriculomegaly, Abnormality of the corpus callosum