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Corneal abnormalities
Gene: TGFBI

TGFBI (transforming growth factor beta induced)
EnsemblGeneIds (GRCh38): ENSG00000120708
EnsemblGeneIds (GRCh37): ENSG00000120708
OMIM: 601692, Gene2Phenotype
TGFBI is in 3 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on publications: New publications added: 31322463, 30830990, 32952948
Created: 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

Created: 18 Mar 2022, 1:45 p.m.
Last Modified: 18 Mar 2022, 1:45 p.m.
Panel version: 1.11

Ellen McDonagh (Genomics England Curator)

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.

Created: 15 Feb 2017, 4:53 p.m.

Panel version: 0.26

Chris Campbell (NHS)

Green List (high evidence)

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Eligibility statement prior genetic testing
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

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

OMIM

601692

Clinvar variants

Variants in TGFBI

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

27 Jul 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI was removed from gene: TGFBI.

22 Mar 2022, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: TGFBI.

18 Mar 2022, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TGFBI were set to 11146721; 15531312; 16652336; 9780098; 9727509

18 Mar 2022, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

15 Feb 2017, Gel status: 4