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BabyScreen+ newborn screening

Gene: NSD1

Red List (low evidence)
NSD1 (nuclear receptor binding SET domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000165671
EnsemblGeneIds (GRCh37): ENSG00000165671
OMIM: 606681, Gene2Phenotype
NSD1 is in 17 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sotos syndrome 1, MIM# 117550

Created: 6 Oct 2022, 5:54 a.m.
Last Modified: 6 Oct 2022, 5:54 a.m.
Panel version: 0.462

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong. Sotos syndrome (SOTOS) is a neurologic disorder characterized by overgrowth from the prenatal stage through childhood, with advanced bone age, an unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies and seizures, and impaired intellectual development

Severity: moderate

Age of onset: infant

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude
Created: 5 Oct 2022, 1:56 a.m. | Last Modified: 5 Oct 2022, 1:56 a.m.
Panel Version: 0.274

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sotos syndrome

Created: 5 Oct 2022, 1:56 a.m.
Last Modified: 5 Oct 2022, 1:56 a.m.
Panel version: 0.274

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsd1 has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NSD1 were changed from Sotos syndrome to Sotos syndrome 1, MIM# 117550

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsd1 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NSD1 was added gene: NSD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NSD1 were set to Sotos syndrome