Neurodegenerative disorders - adult onsetGene: MPV17
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
Associated with a infantile hepatic mitochondrial DNA depletion and Charcot-Marie-Tooth disease phenotype
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
Charcot-Marie-Tooth disease, axonal, type 2EE; 618400
Source NHS GMS was added to MPV17.
Source Yorkshire and North East GLH was added to MPV17.
Rebecca Foulger: Gene awaiting curator evaluati
gene: MPV17 was added gene: MPV17 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MPV17 was set to Unknown Phenotypes for gene: MPV17 were set to Dystonia