Familial and multiple pulmonary arteriovenous malformations

Gene: TEK

Red List (low evidence)

TEK (TEK receptor tyrosine kinase)
EnsemblGeneIds (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)

Red List (low evidence)

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

13 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Dec 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TEK were set to 27519652

13 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Dec 2016, Gel status: 2

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

13 Dec 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Dec 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene TEK were set to Venous malformations, multiple cutaneous and mucosal 600195

13 Dec 2016, Gel status: 2

clearsources

Sarah Leigh (Genomics England Curator)

TEKAll sources for gene: TEK were removed

30 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TEK was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen

30 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TEK was created by ellenmcdonagh

30 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TEK was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services