Congenital hyperinsulinism

Gene: NSD1

No list

NSD1 (nuclear receptor binding SET domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 12 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Hyperinsulinism is a documented feature of this syndrome: at least 9 individuals with NSD1 variants and hyperinsulinism reported; persistent in 3/9/
Sources: Expert list
Created: 14 Feb 2020, 8:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sotos syndrome (OMIM#117550)

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

14 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NSD1 was added gene: NSD1 was added to Congenital hyperinsulinism. Sources: Expert list Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD1 were set to 30719864 Phenotypes for gene: NSD1 were set to Sotos syndrome (OMIM#117550) Review for gene: NSD1 was set to GREEN gene: NSD1 was marked as current diagnostic