| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.49 | GCH1 | Zornitza Stark Marked gene: GCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.49 | GCH1 | Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.49 | GCH1 | Zornitza Stark Classified gene: GCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.49 | GCH1 | Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GCH1 |
Sangavi Sivagnanasundram 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 Added comment: 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: ClinGen |
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