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| DDG2P v3.54 | MTOR | Achchuthan Shanmugasundram Phenotypes for gene: MTOR were changed from Smith-Kingsmore syndrome, OMIM:616638 to Smith-Kingsmore syndrome, OMIM:616638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.54 | MTOR | Achchuthan Shanmugasundram Phenotypes for gene: MTOR were changed from Smith-Kingsmore syndrome, OMIM:616638 to Smith-Kingsmore syndrome, OMIM:616638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.54 | MTOR | Achchuthan Shanmugasundram Phenotypes for gene: MTOR were changed from EPILEPTIC ENCEPHALOPATHY; Smith-Kingsmore syndrome to Smith-Kingsmore syndrome, OMIM:616638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.53 | MTOR | Achchuthan Shanmugasundram Tag watchlist was removed from gene: MTOR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MTOR | Achchuthan Shanmugasundram reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23934111, 28892148; Phenotypes: Smith-Kingsmore syndrome, OMIM:616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MTOR |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MTOR was changed from Other - please provide details in the comments to Other Publications for gene: MTOR were updated from 28892148 to 23934111; 28892148 |
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| DDG2P v0.82 | MTOR | Rebecca Foulger Classified gene: MTOR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.82 | MTOR | Rebecca Foulger Gene: mtor has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MTOR | Rebecca Foulger edited their review of gene: MTOR: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Smith-Kingsmore syndrome.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | MTOR | Rebecca Foulger commented on gene: MTOR: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | MTOR | Rebecca Foulger Tag watchlist tag was added to gene: MTOR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MTOR | Rebecca Foulger reviewed gene: MTOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MTOR |
Rebecca Foulger Added phenotypes Smith-Kingsmore syndrome for gene: MTOR Publications for gene MTOR were changed from 23934111 to 28892148 |
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| DDG2P v0.1 | MTOR |
Rebecca Foulger gene: MTOR was added gene: MTOR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTOR were set to 23934111 Phenotypes for gene: MTOR were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: MTOR was set to Other - please provide details in the comments |
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