Activity
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10 actions
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| Early onset or syndromic epilepsy v7.39 | SLC13A3 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: SLC13A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.39 | SLC13A3 | Sarah Leigh reviewed gene: SLC13A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.38 | SLC13A3 |
Sarah Leigh Source NHS GMS was added to SLC13A3. Source Expert Review Green was added to SLC13A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v7.10 | SLC13A3 | Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: SLC13A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.10 | SLC13A3 | Arina Puzriakova Publications for gene: SLC13A3 were set to 38235040; 34966709; 30635937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.9 | SLC13A3 | Arina Puzriakova Classified gene: SLC13A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.9 | SLC13A3 |
Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM (MIM# 618384). At least 9 unrelated cases with biallelic variants in this gene and acute reversible leukoencephalopathy with increased urinary α-ketoglutarate, arising in the context of a febrile illness (PMID: 30635937; 34966709; 35527102; 37290914; 38235040). Sufficient evidence to promote SLC13A3 to Green at the next GMS panel update. |
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| Early onset or syndromic epilepsy v7.9 | SLC13A3 | Arina Puzriakova Gene: slc13a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.8 | SLC13A3 | Arina Puzriakova Phenotypes for gene: SLC13A3 were changed from to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.1 | SLC13A3 |
Cassandra Smith gene: SLC13A3 was added gene: SLC13A3 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to 38235040; 34966709; 30635937 Review for gene: SLC13A3 was set to GREEN Added comment: Febrile seizures reported in >3 families with biallelic variants in SLC13A3 Sources: Literature |
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