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  2. Corneal Dystrophy
  3. ZEB1
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Corneal Dystrophy

Gene: ZEB1

Green List (high evidence)
ZEB1 (zinc finger E-box binding homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000148516
EnsemblGeneIds (GRCh37): ENSG00000148516
OMIM: 189909, Gene2Phenotype
ZEB1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported.
Created: 6 Jan 2021, 12:14 a.m. | Last Modified: 6 Jan 2021, 12:14 a.m.
Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 6 Jan 2021, 12:14 a.m.
Last Modified: 6 Jan 2021, 12:14 a.m.
Panel version: 0.57

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270
  • Corneal dystrophy, posterior polymorphous, 3, MIM# 609141
OMIM
189909
Clinvar variants
Variants in ZEB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zeb1 has been classified as Green List (High Evidence).

6 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141

6 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZEB1 were set to

6 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZEB1 was added gene: ZEB1 was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZEB1 was set to Unknown