Adult onset movement disorderGene: L2HGDH
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, 4:37 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.
Phenotype apears to include ataxia/dystonia. >3 families reported. Presents in childhood
Created: 23 Apr 2019, 12:14 p.m.
L-2-hydroxyglutaric aciduria, 236792
Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH Publications for gene L2HGDH were changed from to 18780161
Source NHS GMS was added to L2HGDH.
Source South West GLH was added to L2HGDH.
gene: L2HGDH was added gene: L2HGDH was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: L2HGDH was set to Phenotypes for gene: L2HGDH were set to Dystonia