Corneal abnormalities

Gene: TGFBI

Green List (high evidence)

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

2 reviews

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.

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, 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

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

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

15 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

15 Feb 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TGFBI was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

15 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TGFBI was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

15 Feb 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

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

15 Feb 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TGFBI were set to 11146721; 15531312; 16652336; 9780098

19 Jan 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TGFBI was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TGFBI was added to Corneal abnormalitiespanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

TGFBI was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TGFBI was added to Corneal abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services