Adult onset hereditary spastic paraplegia
Gene: ZEB2EnsemblGeneIds (GRCh38): ENSG00000169554
EnsemblGeneIds (GRCh37): ENSG00000169554
OMIM: 605802, Gene2Phenotype
ZEB2 is in 14 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
No evidence identified for association with HSP.Created: 10 May 2019, 1:14 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
Chris Buxton (North Bristol NHS Trust)
No evidence found on Pubmed (ZEB2 HSP/spastic/paraplegia/paraparesis) or HGMD. Gene predominantly listed on HGMD as 'Mowat-Wilson syndrome'. Not compatible phenotype.Created: 27 Apr 2019, 4:17 p.m.
Details
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- South West GLH
- OMIM
- 605802
- Clinvar variants
- Variants in ZEB2
- Penetrance
- None
- Panels with this gene
-
- Hereditary spastic paraplegia
- DDG2P
- Structural eye disease
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Clefting
- Severe microcephaly
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ZEB2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ZEB2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ZEB2 was added gene: ZEB2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ZEB2 was set to