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| Vascular Malformations_Somatic v0.10 | TEK | Zornitza Stark Marked gene: TEK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.10 | TEK | Zornitza Stark Gene: tek has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.10 | TEK | Zornitza Stark Classified gene: TEK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.10 | TEK | Zornitza Stark Gene: tek has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v0.9 | TEK |
Chris Richmond gene: TEK was added gene: TEK was added to Vascular Malformations_Somatic. Sources: Expert Review Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TEK were set to 27519652 Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal (600195); Blue rubber bleb naevus syndrome; Sporadic multifocal vascular malformations Penetrance for gene: TEK were set to unknown Mode of pathogenicity for gene: TEK 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: TEK was set to GREEN Added comment: Gain of function. Germline: Somatic: Blue Rubber Bleb Naevus Syndrome PMID 27519652: "Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations" group studied tissue from 17 individuals with blue rubber bleb nevus and six individuals with sporadic multifocal vascular malformations. They found that most (13 of 15) individuals with blue rubber bleb nevus had tissue double mutations (i.e., two somatic TEK mutations); 10 of these double mutations were in cis, and in the other tissues the allelism could not be determined. Double and cis mutations were present in most sporadic multifocal vascular malformations as well. Sources: Expert Review |
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