Genomics England
GMS Panels
Panels
Genes and Entities

ADD1

adducin 1
OMIM: 102680
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, MONDO:0700092, ADD1-related
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Ventriculomegaly, Abnormality of the corpus callosum