Corneal Dystrophy
Gene: TCF4Comment on list classification: Added as an STR to this panel.Created: 28 Aug 2021, 8:12 a.m. | Last Modified: 28 Aug 2021, 8:12 a.m.
Panel Version: 1.3
Association between triplet expansion in this gene and corneal dystrophy. Note LOF variants in this gene cause Pitt-Hopkins syndromeCreated: 6 Jan 2021, 3:20 a.m. | Last Modified: 6 Jan 2021, 3:20 a.m.
Panel Version: 0.68
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, Fuchs endothelial, 3, MIM# 613267
Publications
Mode of pathogenicity
Other
Gene: tcf4 has been removed from the panel.
Gene: tcf4 has been classified as Green List (High Evidence).
Phenotypes for gene: TCF4 were changed from to Corneal dystrophy, Fuchs endothelial, 3, MIM# 613267
Publications for gene: TCF4 were set to
Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag STR tag was added to gene: TCF4.
gene: TCF4 was added gene: TCF4 was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCF4 was set to Unknown