Adult onset movement disorderGene: MCOLN1
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:38 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
PMID 29449188 descibes a single family with dystonia/ataxia only. Movement disorder can be a feature of Mucolipidosis.
Created: 23 Apr 2019, 12:14 p.m.
Mucolipidosis IV, 252650
Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1 Publications for gene MCOLN1 were changed from to 29449188
Source NHS GMS was added to MCOLN1.
Source South West GLH was added to MCOLN1.
gene: MCOLN1 was added gene: MCOLN1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: MCOLN1 was set to Phenotypes for gene: MCOLN1 were set to Dystonia