| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vascular Malformations_Somatic v1.2 | MET | Zornitza Stark Marked gene: MET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v1.2 | MET | Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v1.2 | MET | Zornitza Stark Classified gene: MET as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v1.2 | MET | Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v1.1 | MET |
Natasha Brown gene: MET was added gene: MET was added to Vascular Malformations_Somatic. Sources: Literature Mode of inheritance for gene: MET was set to Other Publications for gene: MET were set to PMID: 32858245 Phenotypes for gene: MET were set to lymphovenous malformation; overgrowth Mode of pathogenicity for gene: MET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MET was set to AMBER Added comment: MET c.3029C>T p. (The1010Ile) found in three unrelated cases and c.3082G>A; p.(Asp1028Asn) found in one case, via cfDNA analysis at very low allele fraction (<1%) However authors state: The prevalence of the MET p.T1010I mutation in the population overall is 0.07% according to the Exome Aggregation Consortium and 1.1% in the European population. 1010 is located in exon 14, which is subjected to exon skipping in certain isoforms. Unclear if causative for this phenotype based on very low VAF and transcript/isoform issues, as well as population frequency. Sources: Literature |
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