| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.93 | PAH | Zornitza Stark Marked gene: PAH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.93 | PAH | Zornitza Stark Gene: pah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.93 | PAH | Zornitza Stark Classified gene: PAH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.93 | PAH | Zornitza Stark Gene: pah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | PAH |
Sangavi Sivagnanasundram gene: PAH was added gene: PAH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 1301187, 13138177 Phenotypes for gene: PAH were set to phenylketonuria MONDO:0009861 Review for gene: PAH was set to GREEN Added comment: Well-established gene-disease association. Affected individuals reported to have an inborn error of phenylalanine metabolism. LoF is the established mechanism of disease (PMID:1301187). Classified as Definitive by ClinGen Aminoacidopathy GCEP on 24/04/2020 https://search.clinicalgenome.org/CCID:005722 Sources: ClinGen |
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| 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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