Undiagnosed metabolic disorders
Gene: ST3GAL3
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.Created: 17 Oct 2019, 1:13 p.m. | Last Modified: 17 Oct 2019, 1:13 p.m.
Panel Version: 1.387
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 ST3GAL3-CDG (Disorders of protein N-glycosylation); Intellectual disability 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
Gene: st3gal3 has been classified as Green List (High Evidence).
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
ST3GAL3 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
ST3GAL3 was created by sleigh
ST3GAL3 was added to Undiagnosed metabolic disorderspanel. Sources: Literature