Hereditary haemorrhagic telangiectasiaGene: TEK
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Venous malformations, multiple cutaneous and mucosal 600195
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants reported. Phenotype not relevant to this panel according to expert reviewer Claire Shovlin (Imperial College London)
Created: 13 Dec 2016, 2:36 p.m.
The blue rubber bleb nevus syndrome caused by TEK (Tie-2) pathogenic variants (PMID: 27519652) is clinically distinct to the syndrome of hereditary haemorrhagic telangiectasia which is commonly associated with pulmonary arteriovenous malformations. Blue rubber bleb nevus syndrome is occasionally associated with pulmonary hypertension, but to the best of my knowledge, has not to date been shown to be associated with pulmonary arteriovenous malformations.
Created: 13 Nov 2016, 11:28 p.m.
TEK was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen
This gene has been classified as Red List (Low Evidence).
TEK was created by ellenmcdonagh
TEK was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services