Mosaic skin disorders - deep sequencingGene: TEK
As advised by Genomics England clinician - "TEK is currently green on vascular and DDG2P panels, activating germline mutations cause cutaneous mucosal venous malformations, somatic mutations cause blue rubber bleb naevus syndrome. I don’t know how much evidence there is for blood mosaicism detection (versus tissue testing). Soblet et al, 2017, (PMID 27519652), didn’t find the pathogenic variants (identified through tissue testing) with targeted deep sequencing in blue rubber bleb naevus syndrome, but did find one at the 1-5% level in sporadic multifocal vascular malformation (probably all related conditions??). As not much targeted deep sequencing has been done it’s possible this would be a good future one.
Sources: Expert Review
Created: 12 Dec 2019, 5:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Venous malformations, multiple cutaneous and mucosal, 600195
Gene: tek has been classified as Amber List (Moderate Evidence).
gene: TEK was added gene: TEK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TEK were set to 27519652 Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195 Review for gene: TEK was set to AMBER