Early onset or syndromic epilepsy
Gene: ST3GAL3
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
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
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
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
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
Tag Q1_23_promote_green was removed from gene: ST3GAL3.
Source Expert Review Green was added to ST3GAL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: ST3GAL3.
Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066; 17120046; 25529582
Mode of inheritance for gene: ST3GAL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Publications for gene: ST3GAL3 were set to 21907012; 23252400; 31584066
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
Publications for gene: ST3GAL3 were set to
Source Wessex and West Midlands GLH was added to ST3GAL3.
Source NHS GMS was added to ST3GAL3.
Zornitza Stark: Single family with EE reported
Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to ST3GAL3. Panel: Genetic Epilepsy Syndromes
Expert Review Amber was added to ST3GAL3. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to ST3GAL3. Panel: Genetic Epilepsy Syndromes
ST3GAL3 was added to Genetic Epilepsy Syndromes panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
ST3GAL3 was created by Sarah Leigh