Epilepsy Plus
Gene: ZEB2EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Mowat-Wilson syndrome
- OMIM
- 605802
- Clinvar variants
- Variants in ZEB2
- Penetrance
- Complete
- Publications
-
- Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Severe microcephaly
- Clefting
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Structural eye disease
- Adult onset hereditary spastic paraplegia
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Created
Ellen McDonagh (Genomics England Curator)ZEB2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ZEB2 was added to Epilepsy Pluspanel. Sources: UKGTN,Expert Review Green