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Fetal anomalies

Gene: TEK

Amber List (moderate evidence)
TEK (TEK receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000120156
EnsemblGeneIds (GRCh37): ENSG00000120156
OMIM: 600221, Gene2Phenotype
TEK is in 9 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Likely pathogenic c.2753G>C p.(Arg918Pro) variant seen at our laboratory in a fetus with abnormal posterior fossa and cardiac abnormalities (dilated right atrium, multiple VSDs, cardiomegaly), inherited from a mosaic parent with cardiac defects and multiple venous malformations (extended gene panel analysis carried out due to maternal phenotype). Venous malformations associated with TEK are usually present at birth, but the number and size of fetal lesions is variable - possible that these might be detected by prenatal imaging. Congenital heart defects have been reported in some families (PMID 19888299,29555671).
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Venous malformations, multiple cutaneous and mucosal, OMIM:600195

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TEK gene rating from Green to Red.
Created: 30 Apr 2019, 8:24 a.m.
DDG2P rating in original PAGE list: Confirmed for VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.228

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal, OMIM:600195
  • VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
OMIM
600221
Clinvar variants
Variants in TEK
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Venous malformations, multiple cutaneous and mucosal, OMIM:600195 for gene: TEK

9 Mar 2026, Gel status: 2

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Amber was added to TEK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

30 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to TEK. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TEK was added gene: TEK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL