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Corneal dystrophy

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 11:28 a.m. | Last Modified: 30 Jan 2023, 11:28 a.m.
Panel Version: 2.3
Created: 30 Jan 2023, 11:28 a.m.
Last Modified: 30 Jan 2023, 11:28 a.m.
Panel version: 2.3

Ivone Leong (Genomics England Curator)

MOI should be changed from "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" as Biallelic variants cause a more severe form of disease.
Created: 18 Mar 2022, 1:47 p.m. | Last Modified: 18 Mar 2022, 1:47 p.m.
Panel Version: 1.10

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

Publications

Created: 18 Mar 2022, 1:47 p.m.
Last Modified: 18 Mar 2022, 1:47 p.m.
Panel version: 1.10

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

Created: 1 Apr 2019, 2:30 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
  • NHS GMS
  • 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

30 Jan 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_22_MOI was removed from gene: TGFBI.

30 Jan 2023, Gel status: 3

Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to TGFBI. Mode of inheritance for gene TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

27 Jul 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: TGFBI.

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