Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

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 10 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on publications: 14997421 removed not relevant
Created: 30 May 2019, 5 p.m.
Review and Green rating from Kate Tatton-Brown April 2017. PMID: 14997421- this publication should not be included. NSD1 does NOT cause Beckwith Wiedemann syndrome. Please include 15942875
Created: 30 May 2019, 4:59 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement exclusion criteria
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Sotos syndrome 1, 117550
  • Leukemia, acute myeloid, 601626 (1)
  • Beckwith-Wiedemann syndrome, 130650
  • Sotos Syndrome
OMIM
606681
Clinvar variants
Variants in NSD1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 May 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NSD1 were set to PMID: 23592277

30 May 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NSD1 were set to PMID: 23592277; 14997421

29 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

NSD1 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,,Eligibility statement exclusion criteria,Expert Review Green

29 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NSD1 was created by ellenmcdonagh