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| White matter disorders and cerebral calcification - narrow panel v6.4 | SLC13A3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SLC13A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.4 | SLC13A3 | Achchuthan Shanmugasundram reviewed gene: SLC13A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.3 | SLC13A3 |
Achchuthan Shanmugasundram 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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| White matter disorders and cerebral calcification - narrow panel v6.2 | SLC13A3 | Arina Puzriakova Entity copied from Mitochondrial disorders v8.7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.2 | SLC13A3 |
Arina Puzriakova gene: SLC13A3 was added gene: SLC13A3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber,Literature Q3_24_promote_green tags were added to gene: SLC13A3. Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to 30635937; 34966709; 35527102; 37290914; 38235040; 33340416 Phenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 Penetrance for gene: SLC13A3 were set to Complete |
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