Adult onset dystonia, chorea or related movement disorder
Gene: CIZ1EnsemblGeneIds (GRCh38): ENSG00000148337
EnsemblGeneIds (GRCh37): ENSG00000148337
OMIM: 611420, Gene2Phenotype
CIZ1 is in 4 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 5 Aug 2019, 2:46 p.m. | Last Modified: 5 Aug 2019, 2:46 p.m.
Panel Version: 0.90
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Limited evidence in the literature.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Dystonia 23, 614860
Publications
Details
- Sources
-
- London North GLH
- NHS GMS
- South West GLH
- Expert Review Amber
- Phenotypes
-
- Dystonia 23, 614860
- OMIM
- 611420
- Clinvar variants
- Variants in CIZ1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to CIZ1.
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Dystonia 23, 614860 for gene: CIZ1 Publications for gene CIZ1 were changed from to 22447717
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CIZ1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to CIZ1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CIZ1 was added gene: CIZ1 was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: CIZ1 was set to Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860