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Fetal anomalies

Gene: NSD2

Amber List (moderate evidence)
NSD2 (nuclear receptor binding SET domain protein 2)
EnsemblGeneIds (GRCh38): ENSG00000109685
EnsemblGeneIds (GRCh37): ENSG00000109685
OMIM: 602952, Gene2Phenotype
NSD2 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Lyn Chitty (Great Ormond Street NHS Foundation Trust)

I don't know

Short stature, IUGR, microcephaly cf Wolf Hirshhorn . Amber, not green on microcephaly panel yet.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rauch-Steindl syndrome, OMIM:619695

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Rauch-Steindl syndrome, OMIM:619695
OMIM
602952
Clinvar variants
Variants in NSD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NSD2 was added gene: NSD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD2 were set to 31171569; 30345613 Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, OMIM:619695