Neurodegenerative disorders - adult onsetGene: MAT1A
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Onset in infancy
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Methionine adenosyltransferase deficiency, autosomal recessive; 250850
Source NHS GMS was added to MAT1A.
Source Yorkshire and North East GLH was added to MAT1A.
Rebecca Foulger: Gene awaiting curator evaluati
gene: MAT1A was added gene: MAT1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MAT1A was set to Unknown Phenotypes for gene: MAT1A were set to Dystonia