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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 | MTOR | Louise Daugherty Mode of inheritance for gene: MTOR was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.85 | MTOR | Louise Daugherty Publications for gene: MTOR were set to 28475857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.81 | MTOR | Louise Daugherty Classified gene: MTOR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.81 | MTOR | Louise Daugherty Gene: mtor has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.80 | MTOR |
Louise Daugherty gene: MTOR was added gene: MTOR was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: MTOR was set to Other Publications for gene: MTOR were set to 28475857 Phenotypes for gene: MTOR were set to Overgrowth with Intellectual disability; Human overgrowth syndrome type Review for gene: MTOR was set to GREEN Added comment: Review and Green rating from Kate Tatton-Brown April 2017; Paper in press with AJHG. Activating mutations. We wil be reporting variants in clinical practice soon Sources: Expert list |
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