NSD2

nuclear receptor binding SET domain protein 2
OMIM: 602952, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber NSD2 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • microcephaly, MONDO:0001149

Red NSD2 in Laterality disorders and isomerism


Version 1.51
Latest signed off version: v1.19 (15 Oct 2020)

review Not set
Sources
  • Expert Review Red
  • NHS GMS

Green NSD2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Intrauterine growth retardation
    • Growth delay
    • Microcephaly
    • Muscular hypotonia
    • Neurodevelopmental delay
    • Intellectual disability
    • No OMIM number

    Green NSD2 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Wolf-Hirschhorn syndrome