Neurodegenerative disorders - adult onsetGene: MCOLN1
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
Source NHS GMS was added to MCOLN1.
Source Yorkshire and North East GLH was added to MCOLN1.
Rebecca Foulger: Gene awaiting curator evaluati
gene: MCOLN1 was added gene: MCOLN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MCOLN1 was set to Unknown Phenotypes for gene: MCOLN1 were set to Dystonia