Neurotransmitter disorders

Gene: GCH1

Green List (high evidence)

GCH1 (GTP cyclohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 17 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotype.
This is a confirmed DD gene for Dystonia Type 5. Multiple cases and different variants reported in OMIM for associations with Dystonia, DOPA-responsive, with or without hyperphenylalaninemia.
Created: 25 May 2017, 10:38 a.m.
Added treatable tag; Clinical Genomic Database Comments (NIH/NHGRI):
In Hyperphenylalaninemia, BH4-deficient, B and Autosomal Recessive Dopa-Responsive Dystonia with or without Hyperphenylalaninemia, B, medical therapy (eg, BH-4, 5-HT, L-dopa) may be beneficial; In GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia, which may not be easily clinically recognizable early, L-dopa can be effective
Created: 25 May 2017, 10:23 a.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Dopa-responsive dystonia

History Filter Activity

10 Jan 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GCH1 were set to 20301334; 10732814; 942621; 945938; 6734669; 3762960; 3822637; 3400489; 3041760; 2296384; 1899474; 8163996; 7874165; 7869202; 7730309; 9667588; 10208576; 10987649; 11113234; 11346370; 12084887; 12552057; 15753436; 16908750; 17111153; 20301681; 27830117

25 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GCH1 were set to 20301334; 10732814; 942621; 945938; 6734669; 3762960; 3822637; 3400489; 3041760; 2296384; 1899474; 8163996; 7874165; 7869202; 7730309; 9667588; 10208576; 10987649; 11113234; 11346370; 12084887; 12552057; 15753436; 16908750; 17111153; 20301681;27830117

25 May 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR),128230; Dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910; GTP-cyclohydrolase deficiency

25 May 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR),128230; Dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GCH1 were set to 20301334;10732814; 942621; 945938; 6734669; 3762960; 3822637; 3400489; 3041760; 2296384; 1899474; 8163996; 7874165; 7869202; 7730309; 9667588; 10208576; 10987649; 11113234; 11346370; 12084887; 12552057; 15753436; 16908750; 17111153; 20301681

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-responsive dystonia

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR), 128230; Dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B, (AR), 233910

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

GCH1 was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

GCH1 was added to Neurotransmitter disorderspanel. Sources: Literature