Congenital disorders of glycosylation
Gene: ST3GAL3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 12:48 p.m. | Last Modified: 11 Oct 2023, 12:48 p.m.
Panel Version: 4.3
Comment on list classification: This gene should be promoted to Green at the next GMS panel update. Sufficient cases (>3) to support a gene-disease association (PMID: 21907012; 23252400; 31584066). This gene is also green on the IEM panel (v3.0) and as such should be reflected on this panel.
ST3GAL3 encodes the β-galactoside-α2,3-sialyltransferase-III (ST3Gal-III), which in humans predominantly forms the sialyl Lewis a (sLe a) epitope on glycoproteins.Created: 12 Jan 2023, 11:41 a.m. | Last Modified: 12 Jan 2023, 11:41 a.m.
Panel Version: 3.2
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One variant reported in four members of a consanguineous Pakistani familyCreated: 19 Dec 2016, 3:14 p.m.
Comment on phenotypes: Also associated with Mental retardation, autosomal recessive 12 611090Created: 19 Dec 2016, 3:11 p.m.
Tag Q1_23_promote_green was removed from gene: ST3GAL3.
Source Expert Review Green was added to ST3GAL3. Source NHS GMS was added to ST3GAL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Tag Q1_23_promote_green tag was added to gene: ST3GAL3.
Publications for gene: ST3GAL3 were set to 21907012; 23252400
Phenotypes for gene: ST3GAL3 were changed from Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation) to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612
Promoted to V1 19th December 2016
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for ST3GAL3 were set to Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation)
Publications for ST3GAL3 were set to 21907012; 23252400
ST3GAL3 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
ST3GAL3 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
ST3GAL3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
ST3GAL3 was created by sleigh