Familial and multiple pulmonary arteriovenous malformations
Gene: TEKEnsemblGeneIds (GRCh38): ENSG00000120156
EnsemblGeneIds (GRCh37): ENSG00000120156
OMIM: 600221, Gene2Phenotype
TEK is in 9 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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.
Claire Shovlin (Imperial College London)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Venous malformations, multiple cutaneous and mucosal 600195
- OMIM
- 600221
- Clinvar variants
- Variants in TEK
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for TEK were set to 27519652
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)TEK was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene TEK were set to Venous malformations, multiple cutaneous and mucosal 600195
clearsources
Sarah Leigh (Genomics England Curator)TEKAll sources for gene: TEK were removed
Added New Source
Ellen McDonagh (Genomics England Curator)TEK was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)TEK was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TEK was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services