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| Childhood onset dystonia, chorea or related movement disorder v0.7 | GCH1 |
Ellen McDonagh Source PanelApp was added to GCH1. Mode of inheritance for gene GCH1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; GTP-cyclohydrolase deficiency for gene: GCH1 Publications for gene GCH1 were changed from to 3762960; 8163996; 7730309; 10987649; 942621; 9667588; 3822637; 7874165; 17111153; 6734669; 1899474; 945938; 3400489; 7869202; 10208576; 20301334; 27830117; 12552057; 20301681; 10732814; 12084887; 3041760; 16908750; 11346370; 11113234; 2296384; 15753436 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | GCH1 |
Ellen McDonagh gene: GCH1 was added gene: GCH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: GCH1 was set to |
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