Hereditary spastic paraplegia
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
2 reviews
Chris Buxton (North Bristol NHS Trust)
Cannot find any evidence supporting this gene as an HSP candidateCreated: 27 Nov 2018, 12:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mowat Wilson
emma baple (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mowat Wilson
Details
- Sources
-
- Expert Review Red
- UKGTN
- OMIM
- 605802
- Clinvar variants
- Variants in ZEB2
- Penetrance
- Complete
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Clefting
- Childhood onset hereditary spastic paraplegia
- DDG2P
- Structural eye disease
- Adult onset hereditary spastic paraplegia
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Severe microcephaly
- Fetal anomalies
- Adult onset neurodegenerative disorder
History Filter Activity
9 Mar 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ZEB2 was added to Hereditary spastic paraplegiapanel. Sources: UKGTN