Early onset or syndromic epilepsy
Gene: ST3GAL3EnsemblGeneIds (GRCh38): ENSG00000126091
EnsemblGeneIds (GRCh37): ENSG00000126091
OMIM: 606494, Gene2Phenotype
ST3GAL3 is in 8 panels
9 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, noon | Last Modified: 11 Oct 2023, noon
Panel Version: 4.110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Associated with Developmental and epileptic encephalopathy 15, OMIM:615006, but not associated with the same phenotype in Gen2Phen. At least two variants have been reported in two unrelated families (PMIDs: 23252400 & 31584066). Supportive functional studies are presented in PMID: 30089820.Created: 21 Feb 2023, noon | Last Modified: 21 Feb 2023, noon
Panel Version: 3.62
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 21 Feb 2023, 11:53 a.m. | Last Modified: 21 Feb 2023, 11:53 a.m.
Panel Version: 3.62
Comment on phenotypes: ST3GAL3 are also associated with: Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612, however, this phenotype does not include seizures.Created: 21 Feb 2023, 11:46 a.m. | Last Modified: 21 Feb 2023, 11:46 a.m.
Panel Version: 3.59
Publications
Rebecca Foulger (Genomics England curator)
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Tracy Lester (Genetics laboratory, Oxford UK)
Limited evidence: Early infantile epileptic encephalopathy-15 in 4 members of a consanguinous family: PMID 23252400 identified a homozygous mutation in the ST3GAL3 gene (A320P). In vitro functional expression studies suggested impaired function.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Epileptic encephalopathy, early infantile, 15, 615006 ; Mental retardation 12, 611090
Publications
Zornitza Stark (Australian Genomics)
Additional family reported recently with seizure phenotype.Created: 25 Jan 2020, 7:22 a.m. | Last Modified: 25 Jan 2020, 7:22 a.m.
Panel Version: 2.0
Single family with EE reportedCreated: 22 Aug 2018, 2:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Epileptic encephalopathy, early infantile, 15 , MIM#615006
Publications
Variants in this GENE are reported as part of current diagnostic practice
Amy McTague (UCL Institute of Child Health)
Natalie Trump (NHS - Great Ormond Street Hospital)
Manju Kurian (UCL-Institute of Child Health)
Richard Scott (North Thames GMC/UCL)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
- OMIM
- 606494
- Clinvar variants
- Variants in ST3GAL3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: ST3GAL3.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to ST3GAL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: ST3GAL3.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066; 17120046; 25529582
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: ST3GAL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ST3GAL3 were changed from 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 to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ST3GAL3 were set to 21907012; 23252400; 31584066
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ST3GAL3 were changed from Epileptic encephalopathy, early infantile, 15 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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ST3GAL3 were set to
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to ST3GAL3.
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to ST3GAL3.
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Zornitza Stark: Single family with EE reported
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to ST3GAL3. Panel: Genetic Epilepsy Syndromes
Added New Source
Sarah Leigh (Genomics England Curator)Expert Review Amber was added to ST3GAL3. Panel: Genetic Epilepsy Syndromes
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to ST3GAL3. Panel: Genetic Epilepsy Syndromes
Added New Source
Sarah Leigh (Genomics England Curator)ST3GAL3 was added to Genetic Epilepsy Syndromes panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Created
Sarah Leigh (Genomics England Curator)ST3GAL3 was created by Sarah Leigh