Adult onset dystonia, chorea or related movement disorder
Gene: GAMT
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.
Increased muscle tone and movement disorder can be a feature. But will present with developmental delay/seizures in childhood.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Cerebral creatine deficiency syndrome 2, 612736
Publications
Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 for gene: GAMT Publications for gene GAMT were changed from to 24268530
Source NHS GMS was added to GAMT.
Source South West GLH was added to GAMT.
gene: GAMT was added gene: GAMT was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: GAMT was set to Phenotypes for gene: GAMT were set to Dystonia