Adult onset neurodegenerative disorder
Gene: CIZ1
No disease association in OMIM. Three variants listed in associatoin with primary cervical dystonia in HGMDPro.Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
Unknown
Phenotypes
Dystonia 23, 614860
Publications
Single family with Cervical dystonia phenotypeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
Unknown
Phenotypes
Dystonia 23, 614860
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
1 family reported (22447717)Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
Dystonia 23, 614860
Phenotypes for gene: CIZ1 were changed from Dystonia 23, 614860 to Dystonia 23, MONDO:0013928
Publications for gene: CIZ1 were set to
Source Expert Review Amber was added to CIZ1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Wessex and West Midlands GLH was added to CIZ1.
Source Yorkshire and North East GLH was added to CIZ1.
Gene: ciz1 has been classified as Red List (Low Evidence).
Source London North GLH was added to CIZ1.
Source NHS GMS was added to CIZ1.
Source South West GLH was added to CIZ1.
Rebecca Foulger: Gene awaiting curator evaluati
gene: CIZ1 was added gene: CIZ1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: CIZ1 was set to Unknown Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860