Adult onset movement disorderGene: GCH1
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Source NHS GMS was added to GCH1.
Source London North GLH was added to GCH1.
gene: GCH1 was added gene: GCH1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: GCH1 were set to Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)