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Severe microcephaly

Gene: NSD2

No list

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

1 review

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
Phenotypes
  • microcephaly
  • intellectual disability
OMIM
602952
Clinvar variants
Variants in NSD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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