Structural eye disease
Gene: ZEB2EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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 variantCreated: 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)
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 variantCreated: 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
-
- Early onset or syndromic epilepsy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- DDG2P
- Hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Clefting
- Structural eye disease
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Paediatric pseudo-obstruction syndrome
- Intellectual disability
- Familial Hirschsprung Disease
- Severe microcephaly
- Fetal anomalies
History Filter Activity
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