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| 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 |
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| Vascular Malformations_Somatic v0.9 | MTOR | Bryony Thompson changed review comment from: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations, thus this gene is not suitable for a germline testing panel.; to: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.3 | MTOR | Zornitza Stark Marked gene: MTOR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.3 | MTOR | Zornitza Stark Gene: mtor has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.3 | MTOR | Zornitza Stark Classified gene: MTOR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.3 | MTOR | Zornitza Stark Gene: mtor has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.0 | MTOR |
Zornitza Stark gene: MTOR was added gene: MTOR was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: MTOR was set to Other Publications for gene: MTOR were set to 29174369; 28892148 Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341 Mode of pathogenicity for gene: MTOR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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