Adult onset dystonia, chorea or related movement disorder
Gene: EARS2
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, 4:18 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.
Severe cases can have dystoniaCreated: 23 Apr 2019, 12:14 p.m.
Phenotypes
Combined oxidative phosphorylation deficiency 12, 614924
Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924.; Dystonia to Combined oxidative phosphorylation deficiency 12, 614924; Dystonia
Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924. for gene: EARS2
Source NHS GMS was added to EARS2.
Source South West GLH was added to EARS2.
gene: EARS2 was added gene: EARS2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: EARS2 was set to Phenotypes for gene: EARS2 were set to Dystonia