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Structural eye disease

Gene: ZEB2

Green List (high evidence)

ZEB2 (zinc finger E-box binding homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 13 panels

2 reviews

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

Green List (high evidence)

DB Zweier: Out of 27 families with Mowat_Wilson syndrome, 3 had microphthalmia and one had an Axenfelt anomaly, all four cases had a ZEB2 truncating variant
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia); 235730

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Zweier: Out of 27 families with Mowat_Wilson syndrome, 3 had microphthalmia and one had an Axenfelt anomaly, all four cases had a ZEB2 truncating variant
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia); 235730

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730
OMIM
605802
Clinvar variants
Variants in ZEB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ZEB2 was added gene: ZEB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZEB2 were set to 16053902 Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730