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Inborn errors of metabolism

Gene: ST3GAL3

Green List (high evidence)

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

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Promoted from Amber to Green. WFS1 is associated with an appropriate phenotype on OMIM and Gene2Phenotype.

PMID: 21907012 identified two separate consanguineous families as part of a ID study who had variants in ST3GAL3.

PMID: 23252400 identified a variant p. Ala320Pro in a consanguineous Palestinian family where three siblings and an uncle were affected. All had West syndrome and have since been diagnosed with Lennox-Gastaut syndrome

PMID: 31584066 reports on two di-chorionic infant twins p.Y220*, presenting with epileptic encephalopathy with impaired neuromotor development. A p.Y220* variant identified.

Therefore as there are >3 unrelated cases in the literature ST3GAL3 will be rated as Green.
Created: 17 Oct 2019, 1:11 p.m. | Last Modified: 17 Oct 2019, 1:11 p.m.
Panel Version: 1.362

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 15, 615006: Mental retardation, autosomal recessive 12, 611090

Publications

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Epileptic encephalopathy, early infantile, 15 615006
  • ST3GAL3-CDG (Disorders of protein N-glycosylation)
OMIM
606494
Clinvar variants
Variants in ST3GAL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Oct 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066

17 Oct 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066

17 Oct 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: ST3GAL3 were set to 27604308

17 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: st3gal3 has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ST3GAL3. Source London North GLH was added to ST3GAL3.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Intellectual disability; ST3GAL3-CDG (Disorders of protein N-glycosylation) for gene: ST3GAL3 Publications for gene ST3GAL3 were changed from 21907012; 23252400 to 27604308

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ST3GAL3 was added gene: ST3GAL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL3 were set to 21907012; 23252400 Phenotypes for gene: ST3GAL3 were set to Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation)