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Mendeliome

Gene: ST3GAL3

Green List (high 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)

Green List (high evidence)

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.

Functional tested supported abnormal enzyme function. ST3GAL3 located on chr1p34.1 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: 6 Feb 2021, 1:50 a.m. | Last Modified: 6 Feb 2021, 1:50 a.m.
Panel Version: 0.6225

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 12 MIM# 611090

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive 12 MIM# 611090
OMIM
606494
Clinvar variants
Variants in ST3GAL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: st3gal3 has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ST3GAL3 were changed from to Mental retardation, autosomal recessive 12 MIM# 611090

6 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ST3GAL3 were set to

6 Feb 2021, Gel status: 3

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

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ST3GAL3 was set to Unknown