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Newborns main panel

Gene: GCH1

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 15753436 - 23 dominant cases PMID: 36204308 - 13 recessive cases https://search.clinicalgenome.org/kb/genes/HGNC:4193
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

6 Feb 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GCH1 were changed from Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency to Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency, autosomal recessive

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GCH1. Added phenotypes Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency for gene: GCH1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GCH1. Mode of inheritance for gene GCH1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency for gene: GCH1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GCH1. Added phenotypes Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency for gene: GCH1 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: GCH1 was added gene: GCH1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency