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
-
- Hereditary spastic paraplegia
- DDG2P
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Adult onset hereditary spastic paraplegia
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Fetal anomalies
- Structural eye disease
- Early onset or syndromic epilepsy
- Severe microcephaly
- Clefting
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Intellectual disability
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