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Severe microcephaly

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 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases associated with this gene; however, the severity of microcephaly in these cases do not satisfy our criteria for severe microcephaly. Therefore, this gene has been given an Amber rating.
Created: 16 Sep 2021, 1:07 p.m. | Last Modified: 16 Sep 2021, 1:07 p.m.
Panel Version: 2.236

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Microcephaly reported in 6 of 7 individuals with LOF variants in this gene.
Sources: Expert list
Created: 31 Aug 2020, 8:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
microcephaly; intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • microcephaly, MONDO:0001149
OMIM
602952
Clinvar variants
Variants in NSD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nsd2 has been classified as Amber List (Moderate Evidence).

16 Sep 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NSD2 were set to 30345613; 31171569

16 Sep 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NSD2 were changed from microcephaly; intellectual disability to microcephaly, MONDO:0001149

31 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NSD2 was added gene: NSD2 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD2 were set to 30345613; 31171569 Phenotypes for gene: NSD2 were set to microcephaly; intellectual disability Review for gene: NSD2 was set to GREEN