Genomics England
GMS Panels
Panels
Genes and Entities

NSD2

nuclear receptor binding SET domain protein 2
OMIM: 602952
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NSD2-related developmental disorder (monoallelic)
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, NOT imprinted
Phenotypes
Intrauterine growth retardation, Growth delay, Microcephaly, Muscular hypotonia, Neurodevelopmental delay, Intellectual disability, No OMIM number