Laterality disorders and isomerism
Gene: NSD2

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

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: NSD2; Suggested initial gene rating: Red; Evidence for inclusion: Possible Wolf-Hirschorn association; Evidence for exclusion: Direct gene mutations not known (contiguous deletion syndrome), isomerism not a major feature. NSD2 role unknown.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Created: 5 Dec 2018, 12:52 p.m.

Panel version: 0.2

Details

Sources

Expert Review Red
NHS GMS

Phenotypes

Rauch-Steindl syndrome, OMIM:619695
Rauch-Steindl syndrome, MONDO:0859219

OMIM

602952

Clinvar variants

Variants in NSD2

Penetrance

None

Panels with this gene

History Filter Activity

5 Dec 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NSD2 were changed from to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219

5 Dec 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to NSD2.