Activity

Filter

Cancel
Date Panel Item Activity
24 actions
Early onset or syndromic epilepsy v4.114 ST3GAL3 Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ST3GAL3.
Early onset or syndromic epilepsy v4.110 ST3GAL3 Arina Puzriakova reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.109 ST3GAL3 Arina Puzriakova Source Expert Review Green was added to ST3GAL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v3.62 ST3GAL3 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: ST3GAL3.
Early onset or syndromic epilepsy v3.62 ST3GAL3 Sarah Leigh edited their review of gene: ST3GAL3: Added comment: 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.; Changed rating: GREEN; Changed publications to: 23252400, 30089820, 31584066
Early onset or syndromic epilepsy v3.62 ST3GAL3 Sarah Leigh Classified gene: ST3GAL3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v3.62 ST3GAL3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v3.62 ST3GAL3 Sarah Leigh Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v3.61 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066; 17120046; 25529582
Early onset or syndromic epilepsy v3.60 ST3GAL3 Sarah Leigh Mode of inheritance for gene: ST3GAL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v3.59 ST3GAL3 Sarah Leigh Added comment: 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.
Early onset or syndromic epilepsy v3.59 ST3GAL3 Sarah Leigh 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
Early onset or syndromic epilepsy v2.593 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to 21907012; 23252400; 31584066
Early onset or syndromic epilepsy v2.592 ST3GAL3 Sarah Leigh 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
Early onset or syndromic epilepsy v2.591 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to
Early onset or syndromic epilepsy v2.0 ST3GAL3 Zornitza Stark edited their review of gene: ST3GAL3: Added comment: Additional family reported recently with seizure phenotype.; Changed rating: AMBER; Changed publications: 23252400, 31584066
Early onset or syndromic epilepsy v1.191 ST3GAL3 Rebecca Foulger Source Wessex and West Midlands GLH was added to ST3GAL3.
Early onset or syndromic epilepsy v1.190 ST3GAL3 Rebecca Foulger Source NHS GMS was added to ST3GAL3.
Early onset or syndromic epilepsy v1.189 ST3GAL3 Rebecca Foulger reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ST3GAL3 Tracy Lester reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21907012; Phenotypes: ?Epileptic encephalopathy, early infantile, 15, 615006 , Mental retardation 12, 611090 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.470 ST3GAL3 Sarah Leigh Marked gene: ST3GAL3 as ready
Early onset or syndromic epilepsy v0.470 ST3GAL3 Sarah Leigh Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3
Early onset or syndromic epilepsy ST3GAL3 Sarah Leigh Added gene to panel