| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.91 | OAT | Zornitza Stark Marked gene: OAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.91 | OAT | Zornitza Stark Gene: oat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.91 | OAT | Zornitza Stark Classified gene: OAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.91 | OAT | Zornitza Stark Gene: oat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | OAT |
Sangavi Sivagnanasundram gene: OAT was added gene: OAT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 609808; 23076989; 24429551; 25264521 Phenotypes for gene: OAT were set to ornithine aminotransferase deficiency MONDO:0009796 Review for gene: OAT was set to GREEN Added comment: Established gene disease association with mouse model recapitulating human phenotype. Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 10/07/2019 - https://search.clinicalgenome.org/CCID:005692 Sources: ClinGen |
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