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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.120 | AKT3 | Arina Puzriakova Phenotypes for gene: AKT3 were changed from Human overgrowth syndrome type; Overgrowth with Intellectual disability to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.84 | AKT3 | Louise Daugherty Publications for gene: AKT3 were set to 28475857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.83 | AKT3 | Louise Daugherty Classified gene: AKT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.83 | AKT3 | Louise Daugherty Gene: akt3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.82 | AKT3 | Louise Daugherty edited their review of gene: AKT3: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.82 | AKT3 |
Louise Daugherty gene: AKT3 was added gene: AKT3 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: AKT3 was set to Other Publications for gene: AKT3 were set to 28475857 Phenotypes for gene: AKT3 were set to Human overgrowth syndrome type; Overgrowth with Intellectual disability Review for gene: AKT3 was set to GREEN Added comment: Review and Green rating from Kate Tatton-Brown April 2017; Paper in press with AJHG. Likely activating mutations Sources: Expert list |
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