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  3. ZEB2
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Craniosynostosis

Gene: ZEB2

Amber List (moderate evidence)
ZEB2 (zinc finger E-box binding homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Identified 3 unrelated cases with cranionsynostosis as a prominent feature of the condition. However, the last report was in 2014.
Sources: Literature
Created: 17 Sep 2020, 8:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mowat-Wilson syndrome MIM#235730

Publications

Created: 17 Sep 2020, 8:48 a.m.

Panel version: 0.145

History Filter Activity

17 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: zeb2 has been classified as Amber List (Moderate Evidence).

17 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: zeb2 has been classified as Amber List (Moderate Evidence).

17 Sep 2020, Gel status: 1

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ZEB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Sep 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ZEB2 was added gene: ZEB2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: ZEB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZEB2 were set to 25123255; 18076118 Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome MIM#235730 Review for gene: ZEB2 was set to AMBER