Adult onset dystonia, chorea or related movement disorder
Gene: GIGYF2
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:20 p.m.
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:15 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
See comments on Parkinson disease and complex parkinsonism panelCreated: 23 Apr 2019, 12:14 p.m.
Phenotypes
{Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688
Publications
Added phenotypes Susceptibility to Parkinson disease 11, 607688; {Parkinson disease 11} for gene: GIGYF2 Publications for gene GIGYF2 were changed from 19279319; 18358451; 19250854; 201788319; 18923002; 20060621; 20685231; 19482505; 19449032; 19321232; 26134514; 19429085; 20044296 to 20060621; 20044296; 19482505; 201788319; 26134514; 19449032; 19321232; 19429085; 20685231; 18923002; 19250854; 19279319; 18358451
Source NHS GMS was added to GIGYF2.
Source South West GLH was added to GIGYF2.
gene: GIGYF2 was added gene: GIGYF2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: GIGYF2 was set to Publications for gene: GIGYF2 were set to 19279319; 18358451; 19250854; 201788319; 18923002; 20060621; 20685231; 19482505; 19449032; 19321232; 26134514; 19429085; 20044296 Phenotypes for gene: GIGYF2 were set to {Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688