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  3. TEK
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Vascular Malformations_Germline

Gene: TEK

Green List (high evidence)
TEK (TEK receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000120156
EnsemblGeneIds (GRCh37): ENSG00000120156
OMIM: 600221, Gene2Phenotype
TEK is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, p.Arg849Trp is recurrent.
Created: 16 Jan 2021, 7:24 a.m. | Last Modified: 16 Jan 2021, 7:24 a.m.
Panel Version: 0.123

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Venous malformations, multiple cutaneous and mucosal, MIM# 600195

Publications

Created: 16 Jan 2021, 7:24 a.m.
Last Modified: 16 Jan 2021, 7:24 a.m.
Panel version: 0.123

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal 600195
OMIM
600221
Clinvar variants
Variants in TEK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TEK were set to

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tek has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TEK was added gene: TEK was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode 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