Corneal Dystrophy
Gene: TCF4

TCF4 (transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000196628
EnsemblGeneIds (GRCh37): ENSG00000196628
OMIM: 602272, Gene2Phenotype
TCF4 is in 12 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Added as an STR to this panel.
Created: 28 Aug 2021, 8:12 a.m. | Last Modified: 28 Aug 2021, 8:12 a.m.

Panel Version: 1.3

Created: 28 Aug 2021, 8:12 a.m.
Last Modified: 28 Aug 2021, 8:12 a.m.
Panel version: 1.3

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association between triplet expansion in this gene and corneal dystrophy. Note LOF variants in this gene cause Pitt-Hopkins syndrome
Created: 6 Jan 2021, 3:20 a.m. | Last Modified: 6 Jan 2021, 3:20 a.m.

Panel Version: 0.68

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, Fuchs endothelial, 3, MIM# 613267

Publications

25722209

Mode of pathogenicity
Other

Created: 6 Jan 2021, 3:20 a.m.
Last Modified: 6 Jan 2021, 3:20 a.m.
Panel version: 0.68

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Removed
Victorian Clinical Genetics Services

Phenotypes

Corneal dystrophy, Fuchs endothelial, 3, MIM# 613267

Tags

STR

OMIM

602272

Clinvar variants

Variants in TCF4

Penetrance

None

Publications

25722209

Panels with this gene

History Filter Activity

28 Aug 2021, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tcf4 has been removed from the panel.

6 Jan 2021, Gel status: 3