Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: ST3GAL3

Amber List (moderate evidence)

ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000126091
EnsemblGeneIds (GRCh37): ENSG00000126091
OMIM: 606494, Gene2Phenotype
ST3GAL3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported with seizure phenotype.
Created: 25 Jan 2020, 7:21 a.m. | Last Modified: 25 Jan 2020, 7:21 a.m.
Panel Version: 0.473

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 15 , MIM#615006

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Epileptic encephalopathy, early infantile, 15 , MIM#615006
OMIM
606494
Clinvar variants
Variants in ST3GAL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: st3gal3 has been classified as Amber List (Moderate Evidence).

27 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ST3GAL3 were changed from to Epileptic encephalopathy, early infantile, 15 , MIM#615006

27 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ST3GAL3 were set to

27 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: st3gal3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ST3GAL3 was added gene: ST3GAL3 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ST3GAL3 was set to Unknown