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  3. NSD1
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Intellectual_disability

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 11 panels

0 reviews

Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Sotos syndrome 1, 117550Leukemia, acute myeloid, 601626 (1)Beckwith-Wiedemann syndrome, 130650
  • Intellectual disability
OMIM
606681
Clinvar variants
Variants in NSD1
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NSD1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NSD1 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen