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  3. TEK
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Glaucoma (developmental)

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

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). 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.
Created: 16 Apr 2021, 1:46 p.m. | Last Modified: 16 Apr 2021, 1:46 p.m.
Panel Version: 1.24
Created: 16 Apr 2021, 1:46 p.m.
Last Modified: 16 Apr 2021, 1:46 p.m.
Panel version: 1.24

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ten families and a supportive mouse model.
Sources: Expert list
Created: 2 Aug 2020, 9:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 3, primary congenital, E, MIM# 617272

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Aug 2020, 9:18 a.m.

Panel version: 1.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
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

16 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

16 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TEK were changed from Glaucoma 3, primary congenital, E, MIM# 617272 to Glaucoma 3, primary congenital, E, OMIM:617272

2 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TEK was added gene: TEK was added to Glaucoma (developmental). Sources: Expert list Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TEK were set to 27270174 Phenotypes for gene: TEK were set to Glaucoma 3, primary congenital, E, MIM# 617272 Review for gene: TEK was set to GREEN gene: TEK was marked as current diagnostic