Glaucoma (developmental)
Gene: TEKComment 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
Ten families and a supportive mouse model.
Sources: Expert listCreated: 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
Gene: tek has been classified as Green List (High Evidence).
Phenotypes for gene: TEK were changed from Glaucoma 3, primary congenital, E, MIM# 617272 to Glaucoma 3, primary congenital, E, OMIM:617272
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