1. Panels
  2. Fetal anomalies
  3. ZEB2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 29300384;
87 patients in this report including whole gene deletions (9x), large exonic deletions (3x). Authors note that while missense variants have been reported, they are rare and are associated with milder phenotypes. Therefore, debatable if most of these atypical cases should be classified as MWS.

Phenotypes in this series include Seizures (79%), Microcephaly >=2SD (78%), Hypospadias in males (60%), Congenital heart defects (58%), Short stature >=2SD (46%), Hirschsprung disease (HSCR) (44%), Cryptorchidism in males (41%), Constipation (w/o known HSCR) (29%), Renal anomalies (25%), Structural eye anomalies (10%), Pyloric stenosis (7%), Pulmonary artery sling (3%), Cleft palate (2%).
Created: 20 Oct 2020, 10:15 a.m. | Last Modified: 20 Oct 2020, 10:15 a.m.
Panel Version: 0.3083

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341

Publications

Created: 20 Oct 2020, 10:15 a.m.
Last Modified: 20 Oct 2020, 10:15 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3840

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mowat-Wilson syndrome, MIM# 235730
  • MONDO:0009341
OMIM
605802
Clinvar variants
Variants in ZEB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: zeb2 has been classified as Green List (High Evidence).

19 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: ZEB2 were changed from MOWAT-WILSON SYNDROME to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341

19 Jan 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: ZEB2 were set to

19 Jan 2022, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZEB2 was added gene: ZEB2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME