Genes in panel

Adult onset movement disorder

Gene: CIZ1

Amber List (moderate evidence)

CIZ1 (CDKN1A interacting zinc finger protein 1)
EnsemblGeneIds (GRCh38): ENSG00000148337
EnsemblGeneIds (GRCh37): ENSG00000148337
OMIM: 611420, Gene2Phenotype
CIZ1 is in 5 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

I don't know

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 Amber
Created: 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)

I don't know

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

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CIZ1.

23 Apr 2019, Gel status: 2

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

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CIZ1.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to CIZ1.

3 Jan 2019, Gel status: 2

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