TGFBI

transforming growth factor beta induced
OMIM: 601692, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TGFBI in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.7

review 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

Green TGFBI in Corneal dystrophies


Version 1.6
Latest signed off version: v1.2 (19 Feb 2020)

review 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

Red TGFBI in Structural eye disease


Version 1.52
Latest signed off version: v1.3 (4 Mar 2020)

review 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