Activity
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| Mitochondrial disorders v8.9 | SLC13A3 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: SLC13A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.9 | SLC13A3 | Sarah Leigh reviewed gene: SLC13A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.8 | 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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| Mitochondrial disorders v8.7 | SLC13A3 | Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: SLC13A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.7 | SLC13A3 | Arina Puzriakova Publications for gene: SLC13A3 were set to PMID: 33340416; PMID: 30635937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.6 | SLC13A3 | Arina Puzriakova Classified gene: SLC13A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.6 | 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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| Mitochondrial disorders v8.6 | SLC13A3 | Arina Puzriakova Gene: slc13a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v8.5 | SLC13A3 | Arina Puzriakova Phenotypes for gene: SLC13A3 were changed from Sodium dicarboxylate cotransporter 3 deficiency; Increased urinary dicarboxylic acids, alpha-ketoglutarate, fumarate, N-acetylaspartate; Encephalopathy; Ataxia to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.47 | SLC13A3 |
Andžela Lazdāne gene: SLC13A3 was added gene: SLC13A3 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to PMID: 33340416; PMID: 30635937 Phenotypes for gene: SLC13A3 were set to Sodium dicarboxylate cotransporter 3 deficiency; Increased urinary dicarboxylic acids, alpha-ketoglutarate, fumarate, N-acetylaspartate; Encephalopathy; Ataxia Penetrance for gene: SLC13A3 were set to Complete Review for gene: SLC13A3 was set to GREEN Added comment: Based on the literature SLC13A3 gene variants cause acute reversible leukoencephalopathy and alpha-ketoglutarate accumulation. Patient had hypotonia, abnormal movements, and dysarthria associated with white matter abnormalities and increased urinary alpha-ketoglutarate and NAA. CSF analysis showed increased lactate. Laboratory studies showed increased urinary excretion of alpha-ketoglutarate, succinate, fumarate, and N-acetylaspartate (NAA). These organic acids were also increased in the cerebrospinal fluid (CSF). The SLC13A3 gene is included an international classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle. Sources: Literature |
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