Cerebral vascular malformations

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

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: Not associated with cerebral vascular malformations -mostly seen in skin and mucosa
Created: 12 Dec 2016, 2:04 p.m.
Not associated with cerebral vascular malformations -mostly seen in skin and mucosa
Created: 12 Dec 2016, 2:04 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal, 600195
  • Multiple Cutaneous and Mucosal Venous Malformations
OMIM
600221
Clinvar variants
Variants in TEK
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TEK.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TEK.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

9 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

TEK was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TEK was created by ellenmcdonagh

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TEK was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen