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  3. TCF4
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Corneal dystrophy

Gene: TCF4

Green List (high evidence)
TCF4 (transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 8 panels

3 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

Causes corneal dystrophy only due to STR expansion. Point pathogenic variants in TCF4 gene causes Pitt-Hopkins syndrome. Should not be green on this panel, as will not yield diagnosis with corneal dystrophy.
Created: 30 Nov 2021, 8:55 p.m. | Last Modified: 30 Nov 2021, 8:55 p.m.
Panel Version: 1.7

Mode of pathogenicity
Other

Created: 30 Nov 2021, 8:55 p.m.
Last Modified: 30 Nov 2021, 8:55 p.m.
Panel version: 1.7

Sarah Leigh (Genomics England Curator)

Created: 30 Nov 2021, 4:59 p.m.
Last Modified: 9 Dec 2021, 1:46 p.m.
Panel version: 1.7

Ivone Leong (Genomics England Curator)

Green List (high evidence)

TCF4 is associated with Corneal dystrophy in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be rated green on this panel. It should be noted that the CTG18.1 repeat expansion in the intronic region of TCF4 may be difficult to analyse due to technical difficulties with short-read WGS.
Sources: Expert list
Created: 31 Jul 2019, 10:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Corneal dystrophy, Fuchs endothelial, 3, 613267

Publications

Created: 31 Jul 2019, 10:43 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267
Tags
STR
OMIM
602272
Clinvar variants
Variants in TCF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321

7 Dec 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TCF4 were changed from Corneal dystrophy, Fuchs endothelial, 3, 613267 to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267

30 Nov 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TCF4 were set to 29526280; 26401622

31 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tcf4 has been classified as Green List (High Evidence).

31 Jul 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TCF4 was added gene: TCF4 was added to Corneal dystrophies. Sources: Expert list STR tags were added to gene: TCF4. Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF4 were set to 29526280; 26401622 Phenotypes for gene: TCF4 were set to Corneal dystrophy, Fuchs endothelial, 3, 613267 Review for gene: TCF4 was set to GREEN