Neurodegenerative disorders - adult onsetGene: EARS2
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 first year of life
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
Combined oxidative phosphorylation deficiency 12, 614924
Source NHS GMS was added to EARS2.
Source Yorkshire and North East GLH was added to EARS2.
Rebecca Foulger: Gene awaiting curator evaluati
gene: EARS2 was added gene: EARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: EARS2 was set to Unknown Phenotypes for gene: EARS2 were set to Dystonia