Dystonia - isolated/combined
Gene: CIZ1

CIZ1 (CDKN1A interacting zinc finger protein 1)
EnsemblGeneIds (GRCh38): ENSG00000148337
EnsemblGeneIds (GRCh37): ENSG00000148337
OMIM: 611420, Gene2Phenotype
CIZ1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Single family with a heterozygous variant segregating with cervical dystonia, and two additional adult-onset cervical dystonia cases with missense variants from a publication in 2012. Supporting knockout mouse models.
Created: 5 Apr 2020, 6:08 a.m. | Last Modified: 5 Apr 2020, 6:08 a.m.

Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 23 MIM#614860

Publications

Created: 5 Apr 2020, 6:08 a.m.
Last Modified: 5 Apr 2020, 6:08 a.m.
Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

Dystonia 23, 614860

OMIM

611420

Clinvar variants

Variants in CIZ1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ciz1 has been classified as Amber List (Moderate Evidence).

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CIZ1 was added gene: CIZ1 was added to Dystonia - isolated/combined_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: CIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CIZ1 were set to 27163549; 29154038; 22447717 Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860

Dystonia - isolated/combined Gene: CIZ1