Hereditary haemorrhagic telangiectasia

Gene: TEK

Red List (low evidence)

TEK (TEK receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000120156
EnsemblGeneIds (GRCh37): ENSG00000120156
OMIM: 600221, Gene2Phenotype
TEK is in 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Venous malformations, multiple cutaneous and mucosal 600195

Publications

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
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
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

14 Dec 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

TEK was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen

14 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TEK was created by ellenmcdonagh

14 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TEK was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services