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Intellectual_disability

Gene: DNMT3B

Red List (low evidence)

DNMT3B (DNA methyltransferase 3 beta)
EnsemblGeneIds (GRCh38): ENSG00000088305
EnsemblGeneIds (GRCh37): ENSG00000088305
OMIM: 602900, Gene2Phenotype
DNMT3B is in 7 panels

0 reviews

Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860
  • Intellectual disability
OMIM
602900
Clinvar variants
Variants in DNMT3B
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DNMT3B 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)

DNMT3B was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen