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Epileptic encephalopathy

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 9 panels

4 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 15
OMIM
606494
Clinvar variants
Variants in ST3GAL3
Penetrance
Complete
Panels with this gene

History Filter Activity

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ST3GAL3 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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