Neurodegenerative disorders - adult onsetGene: GAMT
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
Cerebral creatine deficiency syndrome 2, 612736
Source NHS GMS was added to GAMT.
Source Yorkshire and North East GLH was added to GAMT.
Rebecca Foulger: Gene awaiting curator evaluati
gene: GAMT was added gene: GAMT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: GAMT was set to Unknown Phenotypes for gene: GAMT were set to Dystonia