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| DDG2P v6.17 | SLC13A1 | Achchuthan Shanmugasundram edited their review of gene: SLC13A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC13A1-related hypersulfaturia and hyposulfatemia are moderate, biallelic_autosomal and loss of function (PMIDs: 36175384, 39925707). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03395.; Changed rating: GREEN; Changed publications to: 39925707, 36175384; Changed phenotypes to: SLC13A1-associated hypersulfaturia and hyposulfatemia, SLC13A1-related hypersulfaturia and hyposulfatemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | SLC13A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC13A1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | SLC13A1 | Achchuthan Shanmugasundram reviewed gene: SLC13A1: Rating: RED; Mode of pathogenicity: ; Publications: 36175384; Phenotypes: SLC13A1-associated hypersulfaturia and hyposulfatemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC13A1 |
Achchuthan Shanmugasundram gene: SLC13A1 was added gene: SLC13A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A1 were set to 36175384 Phenotypes for gene: SLC13A1 were set to SLC13A1-associated hypersulfaturia and hyposulfatemia |
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