Likely inborn error of metabolism - targeted testing not possible
Gene: ST3GAL3
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
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
Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066
Phenotypes for gene: ST3GAL3 were changed from Intellectual disability; 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
Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066
Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066
Publications for gene: ST3GAL3 were set to 27604308
Gene: st3gal3 has been classified as Green List (High Evidence).
Source NHS GMS was added to ST3GAL3. Source London North GLH was added to ST3GAL3.
Sarah Leigh: Associated with relevant pheno
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
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)