Structural eye disease
Gene: TGFBI

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, epithelial basement membrane; Corneal dystrophy, Groenouw type I; Corneal dystrophy, lattice type I; Corneal dystrophy, Thiel-Behnke type; Corneal dystrophy, Avellino type; Corneal dystrophy, Reis-Bucklers type; Corneal dystrophy, lattice type IIIA; 121820; 121900; 122200; 602082; 607541; 608470; 608471

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS

Phenotypes

607541
Corneal dystrophy, lattice type IIIA
608470
Corneal dystrophy, lattice type I
122200
Corneal dystrophy, Reis-Bucklers type
121900
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
608471
Corneal dystrophy, Avellino type
121820
Corneal dystrophy, Thiel-Behnke type
602082

OMIM

601692

Clinvar variants

Variants in TGFBI

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TGFBI was added gene: TGFBI was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBI were set to 607541; Corneal dystrophy, lattice type IIIA; 608470; Corneal dystrophy, lattice type I; 122200; Corneal dystrophy, Reis-Bucklers type; 121900; Corneal dystrophy, Groenouw type I; Corneal dystrophy, epithelial basement membrane; 608471; Corneal dystrophy, Avellino type; 121820; Corneal dystrophy, Thiel-Behnke type; 602082

Structural eye disease Gene: TGFBI