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  3. CIZ1
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Childhood onset dystonia, chorea or related 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 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Confirmed Amber rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Association with cervical dystonia not confirmed. No OMIM phenotype.
Created: 12 Dec 2019, 3:44 p.m. | Last Modified: 12 Dec 2019, 3:44 p.m.
Panel Version: 0.258
Created: 12 Dec 2019, 3:44 p.m.
Last Modified: 12 Dec 2019, 3:44 p.m.
Panel version: 0.258

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

I don't know

? Disease association
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Limited evidence in the literature, and reported cases are adult-onset.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance
Unknown
Sources
  • South West GLH
  • London North GLH
  • Expert Review Amber
Phenotypes
  • Dystonia 23, 614860
OMIM
611420
Clinvar variants
Variants in CIZ1
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CIZ1. Mode of inheritance for gene CIZ1 was changed from to Unknown Added phenotypes Dystonia 23, 614860 for gene: CIZ1

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CIZ1 was added gene: CIZ1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: CIZ1 was set to