Familial and multiple pulmonary arteriovenous malformations
Gene: TEKComment 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.
This gene has been classified as Red List (Low Evidence).
Publications for TEK were set to 27519652
This gene has been classified as Red List (Low Evidence).
TEK was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene TEK were set to Venous malformations, multiple cutaneous and mucosal 600195
TEKAll sources for gene: TEK were removed
TEK was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen
TEK was created by ellenmcdonagh
TEK was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services