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Intellectual disability syndromic and non-syndromic

Gene: GCH1

Green List (high evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

ID is a feature of the metabolic disorder caused by biallelic variants in this gene. Normal cognitive/intellectual function is generally present in monoallelic disease.
Created: 1 Oct 2024, 11:18 a.m. | Last Modified: 1 Oct 2024, 11:18 a.m.
Panel Version: 0.6295

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0100186

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

1 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Oct 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GCH1 were changed from to GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0100186

1 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GCH1 were set to 22473768; 7869202

1 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GCH1 were set to

1 Oct 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GCH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCH1 was added gene: GCH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GCH1 was set to Unknown