Corneal dystrophies

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 4 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Manchester panel
Created: 1 Apr 2019, 2:30 p.m.

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 3 609141
  • Corneal dystrophy, Fuchs endothelial, 6 613270
OMIM
189909
Clinvar variants
Variants in ZEB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ZEB1 was added gene: ZEB1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZEB1 were set to 2003649; 16252232 Phenotypes for gene: ZEB1 were set to Corneal dystrophy, posterior polymorphous, 3 609141; Corneal dystrophy, Fuchs endothelial, 6 613270