Vascular Malformations_Somatic
Gene: METEnsemblGeneIds (GRCh38): ENSG00000105976
EnsemblGeneIds (GRCh37): ENSG00000105976
OMIM: 164860, Gene2Phenotype
MET is in 9 panels
1 review
Natasha Brown (Victorian Clinical Genetics Services)
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: LiteratureCreated: 16 Mar 2021, 11:29 p.m.
Mode of inheritance
Other
Phenotypes
lymphovenous malformation; overgrowth
Publications
- PMID: 32858245
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Phenotypes
-
- lymphovenous malformation
- overgrowth
- OMIM
- 164860
- Clinvar variants
- Variants in MET
- Penetrance
- None
- Publications
-
- PMID: 32858245
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: met has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: met has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Natasha Brown (Victorian Clinical Genetics Services)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