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  3. TEK
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Structural eye disease

Gene: TEK

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Souma et al. 2016 10 families with congenital glaucoma, 5x frameshift, 3 x missense, 1 x stopgain, 1 deletion, mostly inherited from unaffected parent, het knockout mice have high IOP. Incomplete penetrance. Stingl et al. 2021 report a further case with missense variant, segregation unknown. Qiao et al. 2021 10 families with variants, 4 segregate, 6 inherited from unaffected parents. Young et al. 2020 8 families, segregation in some, incomplete penetrance reported
Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 3, primary congenital, E, OMIM:617272

Publications

Created: 20 Jan 2022, 11:38 a.m.
Last Modified: 20 Jan 2022, 11:38 a.m.
Panel version: 1.101

Ivone Leong (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:54 a.m. | Last Modified: 8 Mar 2022, 10:54 a.m.
Panel Version: 1.115
This gene is also Green on the Glaucoma (developmental) (Version 1.24).

"Ten families and a supportive mouse model. Sources: Expert list
Zornitza Stark (Australian Genomics), 2 Aug 2020"

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.
Sources: Literature
Created: 16 Apr 2021, 1:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Glaucoma 3, primary congenital, E, OMIM:617272

Publications

Created: 16 Apr 2021, 1:47 p.m.

Panel version: 1.115

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glaucoma 3, primary congenital, E, OMIM:617272
OMIM
600221
Clinvar variants
Variants in TEK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: TEK.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

16 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

16 Apr 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TEK was added gene: TEK was added to Structural eye disease. Sources: Literature Q2_21_rating tags were added to gene: TEK. Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TEK were set to 27270174 Phenotypes for gene: TEK were set to Glaucoma 3, primary congenital, E, OMIM:617272 Review for gene: TEK was set to GREEN