1. Genes and Genomic Entities
  2. NSD2

NSD2

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green NSD2 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Rauch-Steindl syndrome, OMIM:619695
  • Rauch-Steindl syndrome, MONDO:0859219
Red NSD2 in Laterality disorders and isomerism


Level 2: Respiratory
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Rauch-Steindl syndrome, OMIM:619695
  • Rauch-Steindl syndrome, MONDO:0859219
Amber NSD2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Rauch-Steindl syndrome, OMIM:619695
Green NSD2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Rauch-Steindl syndrome, OMIM:619695
    • Rauch-Steindl syndrome, MONDO:0859219
    Green NSD2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Rauch-Steindl syndrome, OMIM:619695
    • Rauch-Steindl syndrome, MONDO:0859219