Craniosynostosis

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Wilkie
Created: 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)

I don't know

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: green
Created: 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 diagnosis
Created: 1 Feb 2016, 12:35 p.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Low frequency association with Mowat-Wilson syndrome. Appropriate mutation and other clinical features should be present to confirm diagnosis
Created: 15 Sep 2015, 9:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mowat-Wilson syndrome

Publications

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Mowat-Wilson syndrome 235730 for gene: ZEB2

5 Mar 2019, Gel status: 3

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)

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for ZEB2 were set to 235730

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for ZEB2 were set to 26097173; 25123255; 24300291; 18076118

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 0

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been removed from the panel.

15 Sep 2015, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

ZEB2 was added to Craniosynostosis syndromes phenotypespanel. Sources: Expert Review