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| Dystonia - isolated/combined v0.61 | GCH1 | Zornitza Stark Marked gene: GCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.61 | GCH1 | Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.61 | GCH1 | Zornitza Stark Phenotypes for gene: GCH1 were changed from GTP-cyclohydrolase deficiency; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910 to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.60 | GCH1 | Zornitza Stark Publications for gene: GCH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.59 | GCH1 | Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874165, 11113234, 15753436; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.0 | GCH1 |
Bryony Thompson gene: GCH1 was added gene: GCH1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to GTP-cyclohydrolase deficiency; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910 |
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