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Intellectual disability syndromic and non-syndromic

Gene: NSD1

Green List (high evidence)

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen ID and Autism GCEP on 26/10/2018

Haploinsufficiency is the mechanism of disease.
Created: 17 May 2024, 1:39 a.m. | Last Modified: 17 May 2024, 1:39 a.m.
Panel Version: 0.5821

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sotos syndrome MONDO:0019349

Publications

  • https://search.clinicalgenome.org/CCID:005680

History Filter Activity

20 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsd1 has been classified as Green List (High Evidence).

20 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NSD1 were changed from to Sotos syndrome MONDO:0019349

20 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NSD1 was added gene: NSD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSD1 was set to Unknown