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| DDG2P v3.12 | SLC16A2 | Achchuthan Shanmugasundram reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8484404, 15488219, 1605231, 14661163, 15889350; Phenotypes: MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY, OMIM:300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC16A2 | Achchuthan Shanmugasundram Publications for gene: SLC16A2 were updated from 15488219; 1605231; 8484404; 14661163; 15889350 to 8484404; 15488219; 1605231; 14661163; 15889350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC16A2 | Rebecca Foulger reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC16A2 |
Rebecca Foulger gene: SLC16A2 was added gene: SLC16A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 15488219; 1605231; 8484404; 14661163; 15889350 Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523 |
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