Neurodegenerative disorders - adult onsetGene: FASTKD2
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 Mitochondrial complex IV deficiency
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
Mitochondrial complex IV deficiency, 220110
Source NHS GMS was added to FASTKD2.
Source Yorkshire and North East GLH was added to FASTKD2.
Rebecca Foulger: Gene awaiting curator evaluati
gene: FASTKD2 was added gene: FASTKD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: FASTKD2 was set to Unknown Phenotypes for gene: FASTKD2 were set to Dystonia