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Microcephaly
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microcephaly reported in 6 of 7 individuals with LOF variants in this gene.
Created: 31 Aug 2020, 8:57 a.m. | Last Modified: 31 Aug 2020, 8:57 a.m.

Panel Version: 0.219

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability

Publications

Created: 31 Aug 2020, 8:57 a.m.
Last Modified: 31 Aug 2020, 8:57 a.m.
Panel version: 1.91

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Rauch-Steindl syndrome, MIM# 619695
Microcephaly
intellectual disability

OMIM

Clinvar variants

Variants in NSD2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NSD2 were changed from Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability

31 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsd2 has been classified as Green List (High Evidence).

31 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NSD2 were changed from to Microcephaly; intellectual disability

31 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NSD2 were set to

31 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NSD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NSD2 was added gene: NSD2 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NSD2 was set to Unknown