Hereditary spastic paraplegia, childhood onset
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
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
No evidence identified for association with HSP.Created: 10 May 2019, 1:13 p.m.
Details
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- UKGTN
- OMIM
- 605802
- Clinvar variants
- Variants in ZEB2
- Penetrance
- None
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Neurodegenerative disorders, adult onset
- Familial Hirschsprung Disease
- DDG2P
- Hereditary spastic paraplegia, adult onset
- Early onset or syndromic epilepsy
- Fetal anomalies
- Hereditary spastic paraplegia, childhood onset
- Severe microcephaly
- Paediatric pseudo-obstruction syndrome
- Intellectual disability
- Clefting
- Hereditary spastic paraplegia
- Structural eye disease
History Filter Activity
13 May 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ZEB2.
13 May 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ZEB2.
28 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: ZEB2 was added gene: ZEB2 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert Review Red Mode of inheritance for gene: ZEB2 was set to