| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vascular Malformations_Germline v0.93 | MTOR | Zornitza Stark Marked gene: MTOR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.93 | MTOR | Zornitza Stark Gene: mtor has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.29 | MTOR | Bryony Thompson Classified gene: MTOR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.29 | MTOR | Bryony Thompson Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.29 | MTOR | Bryony Thompson Gene: mtor has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.28 | MTOR | Bryony Thompson Added comment: Comment on mode of pathogenicity: Gain-of-function is the mechanism of disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.28 | MTOR | Bryony Thompson Mode of pathogenicity for gene: MTOR was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.27 | MTOR |
Bryony Thompson gene: MTOR was added gene: MTOR was added to Inherited Vascular Malformations. Sources: Expert list somatic tags were added to gene: MTOR. Mode of inheritance for gene: MTOR was set to Other Publications for gene: MTOR were set to 28892148; 29174369 Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341 Review for gene: MTOR was set to AMBER Added comment: Haemangiomas are not a prominent feature of Smith-Kingsmore syndrome, which is caused by germline variants in MTOR (PMID: 28892148). A somatic MTOR (p.F1888L) variant was detected in a subject with macrodactyly and bilateral venous malformation of the lower extremities (PMID: 29174369). mTOR inhibitors are important in the management of vascular anomalies. It appears activating mutations in genes in the mTOR pathway are causative of vascular malformations rather than activating mutations in MTOR itself. Sources: Expert list |
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