| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Vascular Malformations_Somatic v0.14 | AKT3 | Zornitza Stark Marked gene: AKT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.14 | AKT3 | Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.14 | AKT3 | Zornitza Stark Classified gene: AKT3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.14 | AKT3 | Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.9 | AKT3 | Chris Richmond reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 22500628, 22729223; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.9 | AKT3 | Chris Richmond Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.9 | AKT3 |
Chris Richmond gene: AKT3 was added gene: AKT3 was added to Vascular Malformations_Somatic. Sources: Expert Review Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937) Penetrance for gene: AKT3 were set to unknown Mode of pathogenicity for gene: AKT3 was set to Other Review for gene: AKT3 was set to GREEN gene: AKT3 was marked as current diagnostic Added comment: Gain of function. "De Novo Somatic Mutations in Components of the PI3K-AKT3-mTOR Pathway Cause Hemimegalencephaly" (PMID 22729223) Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||