Adult onset dystonia, chorea or related movement disorder

Gene: GAMT

Red List (low evidence)

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 RED

Created: 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 RED

Created: 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.

Red List (low evidence)

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

• 24268530