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BabyScreen+ newborn screening

Gene: GCH1

Green List (high evidence)

GCH1 (GTP cyclohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 18 panels

3 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Removing monoallelic from this list due to reduced penetrance
Created: 15 Aug 2024, 12:22 a.m. | Last Modified: 15 Aug 2024, 12:22 a.m.
Panel Version: 1.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia, DOPA-responsive MIM#128230

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

Can cause AD or AR dopa-responsive dystonia, but a biallelic form can also cause hyperphenylalaninaemia in the newborn (and so will be picked up by NBS) - without treatment will cause ID; truncal hypotonia, peripheral hypertonia, seizures and episodic fevers

the biallelic form responds to levodopa combined with a decarboxylase inhibitor, 5-hydroxytryptophan, and BH4
Created: 24 Dec 2022, 4:05 a.m. | Last Modified: 24 Dec 2022, 4:05 a.m.
Panel Version: 0.1675

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
dystonia; truncal hypotonia; peripheral hypertonia; seizures; ID; fever

Publications

Details

History Filter Activity

15 Aug 2024, Gel status: 3

Set mode of inheritance

Lilian Downie (Victorian Clinical Genetics Services)

Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

30 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gch1 has been classified as Green List (High Evidence).

30 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCH1 were changed from Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Dystonia, dopa-responsive to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230

30 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GCH1 were set to

30 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

30 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gch1 has been classified as Green List (High Evidence).

30 Dec 2022, Gel status: 2

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GCH1. Tag metabolic tag was added to gene: GCH1.

18 Sep 2022, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source Expert Review Amber was added to GCH1. Source BabySeq Category B gene was added to GCH1. Mode of inheritance for gene GCH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia, dopa-responsive for gene: GCH1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCH1 was added gene: GCH1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230