Dystonia - childhood onset

Gene: GCH1

Green List (high evidence)

GCH1 (GTP cyclohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 15 panels

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History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: GCH1.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: GCH1 was added gene: GCH1 was added to Dystonia - childhood onset. 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 20301681; 15753436; 12552057; 10732814; 2296384; 11346370; 3041760; 9667588; 8163996; 7874165; 7730309; 3762960; 6734669; 20301334; 11113234; 3400489; 3822637; 10208576; 16908750; 1899474; 10987649; 945938; 7869202; 12084887; 27830117; 942621; 17111153 Phenotypes for gene: GCH1 were set to GTP-cyclohydrolase deficiency; Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)