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DDG2P

Gene: GCH1

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for GCH1-related GTP cyclohydrolase 1 deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10987649, 12552057, 15389992, 20842687, 29471552, 7730309, 9667588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01026. The DDG2P confidence category, allelic requirement and molecular mechanism for GCH1-related dystonia are definitive, monoallelic_autosomal and undetermined (PMIDs: 10078749, 10208576, 10732814, 11113234, 11359069, 11486899, 11956954, 12023430, 12874420, 14509676, 16289769, 17111153, 17410324, 17557242, 17804835, 17898029, 18044725, 18345435, 18511327, 18621497, 19533203, 19566901, 20082337, 20108370, 20437540, 20491893, 21834904, 21935284, 22373569, 24018121, 24509643, 24948553, 25119902, 25634433, 26400349, 28087438, 28415164, 28582483, 28958832, 29290055, 29577080, 29948246, 7874165, 9576537, 9585358, 9667588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01085.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease DYSTONIA TYPE 5, OMIM:128230 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 10208576;11359069;17111153;11486899;10732814;9667588;9576537;7874165). The DDG2P confidence category for the disease GTP CYCLOHYDROLASE 1 DEFICIENCY, OMIM:233910 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMIDs: 12552057;10987649;9667588;7730309).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
OMIM:233910.0; DYSTONIA TYPE 5, OMIM:128230; OMIM:128230.0; GCH1-related dystonia; GCH1-related GTP cyclohydrolase 1 deficiency; GTP CYCLOHYDROLASE 1 DEFICIENCY, OMIM:233910; MONDO:0007495

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: uncertain. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: GCH1 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene GCH1 was changed from Other - please provide details in the comments to Other Publications for gene: GCH1 were updated from 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165 to 12552057; 9667588; 7874165; 10208576; 17111153; 9576537; 7730309; 11359069; 10732814; 11486899; 10987649

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes DYSTONIA TYPE 5 128230 for gene: GCH1 Publications for gene GCH1 were changed from 7730309; 12552057; 10987649; 9667588 to 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GCH1 was added gene: GCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 7730309; 12552057; 10987649; 9667588 Phenotypes for gene: GCH1 were set to GTP CYCLOHYDROLASE 1 DEFICIENCY 233910 Mode of pathogenicity for gene: GCH1 was set to Other - please provide details in the comments