Clefting disorders
Gene: ZEB2EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mowat-Wilson syndrome is a complex developmental disorder presenting with DD/ID, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels, notably Hirschsprung's disease. Over 100 unrelated individuals reported. Deletions common.
Cleft palate is a rare feature of this condition. PMID: 29300384; 87 patients in this report including cleft palate in 2%.Created: 6 Jun 2021, 11:59 p.m. | Last Modified: 6 Jun 2021, 11:59 p.m.
Panel Version: 0.124
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mowat-Wilson syndrome, MIM# 235730
- MONDO:0009341
- OMIM
- 605802
- Clinvar variants
- Variants in ZEB2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Craniosynostosis
- Fetal anomalies
- Clefting disorders
- Angelman Rett like syndromes
- Additional findings_Paediatric
- Microcephaly
- Congenital Heart Defect
- Mendeliome
- Hirschsprung disease
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zeb2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ZEB2 were changed from MOWAT-WILSON SYNDROME; MOWS to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ZEB2 were set to
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 Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME; MOWS