Epileptic encephalopathy
Gene: ZEB2EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels
4 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mowat-Wilson syndrome
Publications
- Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mowat-Wilson syndrome
Publications
- Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mowat-Wilson syndrome
Publications
- Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mowat-Wilson syndrome
Publications
- Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321
Variants in this GENE are reported as part of current diagnostic practice
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ZEB2 were set to Mowat-Wilson syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ZEB2 were set to Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)ZEB2 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)ZEB2 was added to Epileptic encephalopathypanel. Sources: UKGTN