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  2. Intellectual_disability
  3. ST3GAL3
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Intellectual_disability

Gene: ST3GAL3

Red List (low evidence)
ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000126091
EnsemblGeneIds (GRCh37): ENSG00000126091
OMIM: 606494, Gene2Phenotype
ST3GAL3 is in 8 panels

0 reviews

Details

Sources
  • Candidate gene (Grozeva et al, 2015)
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal recessive 12, 611090Epileptic encephalopathy, early infantile, 15, 615006
  • Intellectual disability
OMIM
606494
Clinvar variants
Variants in ST3GAL3
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ST3GAL3 was added to Intellectual_disabilitypanel. Source: Candidate gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ST3GAL3 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen