Dystonia - isolated/combined

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 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

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