Structural eye disease
Gene: TEK
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 reportedCreated: 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
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: LiteratureCreated: 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
Tag Q2_21_rating was removed from gene: TEK.
Source Expert Review Green was added to TEK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tek has been classified as Amber List (Moderate Evidence).
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