| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.64 | HPD | Zornitza Stark Marked gene: HPD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.64 | HPD | Zornitza Stark Gene: hpd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.64 | HPD | Zornitza Stark Classified gene: HPD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.64 | HPD | Zornitza Stark Gene: hpd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.59 | HPD |
Sangavi Sivagnanasundram gene: HPD was added gene: HPD was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 10942115, 11073718, 28649543, 11073718, 31342835 Phenotypes for gene: HPD were set to tyrosinemia type III MONDO:0010162; hawkinsinuria MONDO:0007700 Review for gene: HPD was set to GREEN Added comment: Tyrosinemia type III - AR and Hawkinsinuria - AD ClinGen classified limited evidence for the AD gene-disease association on 17/11/2023 and definitive for AR gene-disease association on 29/06/2020. Established gene-disease association. Reported individuals reported with inborn errors of amino acid metabolism. Sources: ClinGen |
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