Structural eye disease
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

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

DB corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, posterior polymorphous, 3; Corneal dystrophy, Fuchs endothelial, 6; 609141; 613270

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB corneal dystrophy gene, no evidence for involvement in structural eye disease
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, posterior polymorphous, 3; Corneal dystrophy, Fuchs endothelial, 6; 609141; 613270

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS

Phenotypes

Corneal dystrophy, Fuchs endothelial, 6, 613270
Corneal dystrophy, posterior polymorphous, 3, 609141

OMIM

189909

Clinvar variants

Variants in ZEB1

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ZEB1 was added gene: ZEB1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZEB1 were set to Corneal dystrophy, Fuchs endothelial, 6, 613270; Corneal dystrophy, posterior polymorphous, 3, 609141

Structural eye disease Gene: ZEB1