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  3. TEK
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Mosaic skin disorders

Gene: TEK

Amber List (moderate 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)

I don't know

Primarily a vascular malformation disorder.
Created: 18 Feb 2021, 9:40 a.m. | Last Modified: 18 Feb 2021, 9:40 a.m.
Panel Version: 0.39

Phenotypes
Venous malformations, multiple cutaneous and mucosal, 600195

Publications

Created: 18 Feb 2021, 9:40 a.m.
Last Modified: 18 Feb 2021, 9:40 a.m.
Panel version: 0.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS GMS
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

18 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tek has been classified as Amber List (Moderate Evidence).

18 Feb 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TEK was added gene: TEK was added to Mosaic skin disorders. Sources: Expert Review Amber,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TEK were set to 27519652 Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195