Corneal abnormalities
Gene: ZEB1

ZEB1 (zinc finger E-box binding homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000148516
EnsemblGeneIds (GRCh37): ENSG00000148516
OMIM: 189909, Gene2Phenotype
ZEB1 is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be promoted to green.
Created: 22 Feb 2017, 11:28 a.m.

Created: 22 Feb 2017, 11:28 a.m.

Panel version: 0.176

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Posterior polymorphous corneal dystrophy 3 (PPCD3), AD; Fuchs endothelial corneal dystrophy

Publications

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen

Phenotypes

Corneal dystrophy, posterior polymorphous, 3, 609141
Posterior polymorphous corneal dystrophy 3 (PPCD3), AD
Fuchs endothelial corneal dystrophy

OMIM

189909

Clinvar variants

Variants in ZEB1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

22 Feb 2017, Gel status: 4