Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ZEB2EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
CSS has been reported in 4/214 cases (1.9%) - rare complication or coincidence? From Zollino et al 2017 Front Neurosci. Clearly the association is rare and CSS is probably secondary, but fulfils green criterion ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome - 235730
Publications
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ZEB2; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Richard Scott (Genomics England Curator)
Comment when marking as ready: Low frequency association with Mowat-Wilson syndrome. Appropriate mutation and other clinical features should be present to confirm diagnosisCreated: 1 Feb 2016, 12:35 p.m.
Andrew Wilkie (University of Oxford)
Low frequency association with Mowat-Wilson syndrome. Appropriate mutation and other clinical features should be present to confirm diagnosisCreated: 15 Sep 2015, 9:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mowat-Wilson syndrome 235730
- 235730
- OMIM
- 605802
- Clinvar variants
- Variants in ZEB2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia
- DDG2P
- Structural eye disease
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Severe microcephaly
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Clefting
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Mowat-Wilson syndrome 235730 for gene: ZEB2
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ZEB2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for ZEB2 were set to 235730
Set publications
Richard Scott (Genomics England Curator)Publications for ZEB2 were set to 26097173; 25123255; 24300291; 18076118
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Andrew Wilkie (University of Oxford)ZEB2 was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review