Corneal dystrophies

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

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, Groenouw type I 121900
  • Corneal dystrophy, Avellino type 607541
  • Corneal dystrophy, Thiel-Behnke type 602082
  • Corneal dystrophy, lattice type I 122200
  • Corneal dystrophy, Reis-Bucklers type 608470
  • Corneal dystrophy, epithelial basement membrane 121820
  • Corneal dystrophy, lattice type IIIA 608471
OMIM
601692
Clinvar variants
Variants in TGFBI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: TGFBI was added gene: TGFBI was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBI were set to 17962451; 23169578; 17668063 Phenotypes for gene: TGFBI were set to Corneal dystrophy, Groenouw type I 121900; Corneal dystrophy, Avellino type 607541; Corneal dystrophy, Thiel-Behnke type 602082; Corneal dystrophy, lattice type I 122200; Corneal dystrophy, Reis-Bucklers type 608470; Corneal dystrophy, epithelial basement membrane 121820; Corneal dystrophy, lattice type IIIA 608471