Dystonia - isolated/combined
Gene: GCH1
Well established gene-disease association.Created: 29 Apr 2021, 9:49 a.m. | Last Modified: 29 Apr 2021, 9:49 a.m.
Panel Version: 0.59
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Publications
Gene: gch1 has been classified as Green List (High Evidence).
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
Publications for gene: GCH1 were set to
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