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  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. CIZ1
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: CIZ1

Red List (low evidence)
CIZ1 (CDKN1A interacting zinc finger protein 1)
EnsemblGeneIds (GRCh38): ENSG00000148337
EnsemblGeneIds (GRCh37): ENSG00000148337
OMIM: 611420, Gene2Phenotype
CIZ1 is in 4 panels

1 review

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: 0.10

Details

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

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CIZ1 was changed from to Unknown Added phenotypes Dystonia 23, 614860 for gene: CIZ1

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to CIZ1.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CIZ1 was added gene: CIZ1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: CIZ1 was set to