1. Panels
  2. DDG2P
  3. ST3GAL3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

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 8 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ST3GAL3-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMIDs: 17120046, 21907012). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01455.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12, OMIM:611090 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 21907012;17120046).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12, OMIM:611090; OMIM:611090.0; MONDO:0012612; ST3GAL3-related intellectual developmental disorder

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • 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
OMIM
606494
Clinvar variants
Variants in ST3GAL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ST3GAL3 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ST3GAL3. Mode of pathogenicity for gene ST3GAL3 was changed from Other - please provide details in the comments to Other Publications for gene: ST3GAL3 were updated from 27604308; 21907012; 23252400; 31584066; 17120046; 25529582 to 31584066; 27604308; 21907012; 23252400; 17120046; 25529582 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ST3GAL3 were set to 21907012; 17120046

8 Sep 2022, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 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

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: ST3GAL3 was added gene: ST3GAL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL3 were set to 21907012; 17120046 Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 Mode of pathogenicity for gene: ST3GAL3 was set to Other - please provide details in the comments