Laterality disorders and isomerism

Gene: NSD2

Red List (low evidence)

NSD2 (nuclear receptor binding SET domain protein 2)
EnsemblGeneIds (GRCh38): ENSG00000109685
EnsemblGeneIds (GRCh37): ENSG00000109685
OMIM: 602952, Gene2Phenotype
NSD2 is in 4 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.

Details

Sources
  • Expert Review Red
  • NHS GMS
OMIM
602952
Clinvar variants
Variants in NSD2
Penetrance
None
Panels with this gene

History Filter Activity

5 Dec 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to NSD2.

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NSD2 was added gene: NSD2 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: NSD2 was set to