Clefting
Gene: ZEB2
ZEB2 (zinc finger E-box binding homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels
1 review
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Cleft can (rarely) be part of the clinical spectrum of Mowat-WilsonCreated: 31 May 2017, 11:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MOWAT-WILSON SYNDROME; MOWS
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- MOWAT-WILSON SYNDROME
- MOWS
- OMIM
- 605802
- Clinvar variants
- Variants in ZEB2
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia, childhood onset
- Paediatric pseudo-obstruction syndrome
- Hereditary spastic paraplegia, adult onset
- Hereditary spastic paraplegia
- Structural eye disease
- Clefting
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Severe microcephaly
- Neurodegenerative disorders, adult onset
- DDG2P
- Fetal anomalies
- Familial Hirschsprung Disease
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ZEB2 was added to Cleftingpanel. Sources: Expert Review Green
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ZEB2 was created by ellenmcdonagh