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| DDG2P v3.12 | SLC17A5 | Achchuthan Shanmugasundram reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 10069709, 10947946, 10581036; Phenotypes: SALLA DISEASE, OMIM:604369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC17A5 | Achchuthan Shanmugasundram Publications for gene: SLC17A5 were updated from 10069709; 10581036 to 10069709; 10947946; 10581036 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC17A5 | Rebecca Foulger reviewed gene: SLC17A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC17A5 |
Rebecca Foulger Added phenotypes INFANTILE SIALIC ACID STORAGE DISORDER 269920 for gene: SLC17A5 Publications for gene SLC17A5 were changed from 10581036; 10947946 to 10069709; 10581036 |
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| DDG2P v0.1 | SLC17A5 |
Rebecca Foulger gene: SLC17A5 was added gene: SLC17A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC17A5 were set to 10581036; 10947946 Phenotypes for gene: SLC17A5 were set to SALLA DISEASE 604369 |
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