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| DDG2P v3.12 | SLC6A8 | Achchuthan Shanmugasundram reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: ; Publications: 16086185, 11326334, 16738945, 12210795, 17101918, 11898126, 15154114; Phenotypes: X-LINKED CREATINE DEFICIENCY SYNDROME, OMIM:300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC6A8 | Achchuthan Shanmugasundram Publications for gene: SLC6A8 were updated from 11326334; 16086185; 15154114; 12210795; 16738945; 11898126; 17101918 to 16086185; 11326334; 16738945; 12210795; 17101918; 11898126; 15154114 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC6A8 | Rebecca Foulger reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC6A8 |
Rebecca Foulger gene: SLC6A8 was added gene: SLC6A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 11326334; 16086185; 15154114; 12210795; 16738945; 11898126; 17101918 Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME 300352 |
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