1. Panels
  2. Early onset dystonia
  3. CIZ1
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Early onset dystonia

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 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to amber due to feedback from Huw Morris (UCL).
Created: 10 Jun 2016, 7:58 a.m.
Created: 10 Jun 2016, 7:58 a.m.

Panel version: 0.118

Ellen Thomas (Genomics England Curator)

Comment on list classification: Unconfirmed in GeneReviews list
Created: 27 May 2016, 9:27 a.m.
Created: 27 May 2016, 9:27 a.m.

Panel version: 0.28

Details

Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia 23, 614860
OMIM
611420
Clinvar variants
Variants in CIZ1
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

10 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CIZ1 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen