Genomics England
GMS Panels
Panels
Genes and Entities

NSD2

nuclear receptor binding SET domain protein 2
OMIM: 602952
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rauch-Steindl syndrome, OMIM:619695, Rauch-Steindl syndrome, MONDO:0859219
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rauch-Steindl syndrome, OMIM:619695, Rauch-Steindl syndrome, MONDO:0859219
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rauch-Steindl syndrome, OMIM:619695, Rauch-Steindl syndrome, MONDO:0859219