Aminoacidopathy
Gene: GCH1
Classified Definitive by ClinGen Aminoacidopathy GCEP on 11/12/2020 - https://search.clinicalgenome.org/CCID:004935
AD individuals have less than 50% GTPCH activity suggesting a dominant negative mechanism of disease.
AR individuals are shown to have severe deficiency of GTPCH activity resulting in hhyperphenylalaninemia due to secondary PAH deficiency which can be detected on NBS.
Sources: ClinGenCreated: 3 Jun 2024, 6:53 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
GTP cyclohydrolase I deficiency MONDO:0100184
Publications
Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene: gch1 has been classified as Green List (High Evidence).
Gene: gch1 has been classified as Green List (High Evidence).
gene: GCH1 was added gene: GCH1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 20301681, 9749603, 10582612, 11026444, 15303002 Phenotypes for gene: GCH1 were set to GTP cyclohydrolase I deficiency MONDO:0100184 Review for gene: GCH1 was set to GREEN