Adult onset movement disorderGene: MAT1A
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, 4:38 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.
Most patients have no clinical abnormalities.AR form can have Neurologic abnormalities but not clear how common movement disorder is within these patients
Created: 23 Apr 2019, 12:14 p.m.
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850
Added phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A Publications for gene MAT1A were changed from to 26289392
Source NHS GMS was added to MAT1A.
Source South West GLH was added to MAT1A.
gene: MAT1A was added gene: MAT1A was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: MAT1A was set to Phenotypes for gene: MAT1A were set to Dystonia