Corneal abnormalities
Gene: TGFBIComment on publications: New publications added: 31322463, 30830990, 32952948Created: 18 Mar 2022, 1:46 p.m. | Last Modified: 18 Mar 2022, 1:46 p.m.
Panel Version: 1.12
Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more severe disease)".Created: 18 Mar 2022, 1:45 p.m. | Last Modified: 18 Mar 2022, 1:45 p.m.
Panel Version: 1.11
Comment on mode of inheritance: Selected both, as homozygotes were reported in PMID: 9727509.Created: 15 Feb 2017, 5 p.m.
Comment on list classification: Expert review green and more than 3 cases/families reported for different forms of corneal dystrophy.Created: 15 Feb 2017, 5 p.m.
Gene previously named BIGH3.Created: 15 Feb 2017, 4:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Keratoepithelin, multiple types of AD corneal dystrophy: Avellino type, epithelial basement membrane, Groenouw type I, lattice type I, lattice type IIIA, Reis-Bucklers type, Thiel-Behnke type.
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q1_22_MOI was removed from gene: TGFBI.
Tag Q1_22_MOI tag was added to gene: TGFBI.
Publications for gene: TGFBI were set to 11146721; 15531312; 16652336; 9780098; 9727509
Mode of inheritance for gene: TGFBI was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Phenotypes for TGFBI were set to Corneal dystrophy, Avellino type 607541; Corneal dystrophy, epithelial basement membrane 121820; Corneal dystrophy, Groenouw type I 121900; Corneal dystrophy, lattice type I 122200; Corneal dystrophy, lattice type IIIA 608471; Corneal dystrophy, Reis-Bucklers type 608470;Corneal dystrophy, Thiel-Behnke type 602082
Phenotypes for TGFBI were set to Keratoepithelin, multiple types of AD corneal dystrophy: Avellino type, epithelial basement membrane, Groenouw type I, lattice type I, lattice type IIIA, Reis-Bucklers type, Thiel-Behnke type
Mode of inheritance for TGFBI was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TGFBI was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for TGFBI were set to 11146721; 15531312; 16652336; 9780098;9727509
Publications for TGFBI were set to 11146721; 15531312; 16652336; 9780098
TGFBI was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel
TGFBI was added to Corneal abnormalitiespanel. Sources: Eligibility statement prior genetic testing
TGFBI was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen
TGFBI was added to Corneal abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services