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Congenital disorders of glycosylation v4.3 | ST3GAL3 | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ST3GAL3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v4.3 | ST3GAL3 | Arina Puzriakova edited their review of gene: ST3GAL3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v4.2 | ST3GAL3 |
Achchuthan Shanmugasundram 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) |
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Congenital disorders of glycosylation v3.2 | ST3GAL3 | Arina Puzriakova Classified gene: ST3GAL3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v3.2 | ST3GAL3 |
Arina Puzriakova Added comment: 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. |
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Congenital disorders of glycosylation v3.2 | ST3GAL3 | Arina Puzriakova Gene: st3gal3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v3.1 | ST3GAL3 | Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: ST3GAL3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.94 | ST3GAL3 | Sarah Leigh Publications for gene: ST3GAL3 were set to 21907012; 23252400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.93 | ST3GAL3 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | ST3GAL3 | Sarah Leigh marked ST3GAL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | ST3GAL3 | Sarah Leigh commented on ST3GAL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | ST3GAL3 | Daniel Ungar reviewed ST3GAL3 |