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| Aminoacidopathy v1.73 | QDPR | Zornitza Stark Marked gene: QDPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.73 | QDPR | Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.73 | QDPR | Zornitza Stark Classified gene: QDPR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.73 | QDPR | Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | QDPR |
Sangavi Sivagnanasundram gene: QDPR was added gene: QDPR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 14114862; 3033643; 11153907; 9341885; 19099731 Phenotypes for gene: QDPR were set to dihydropteridine reductase deficiency MONDO:0009862 Review for gene: QDPR was set to GREEN Added comment: Well established gene disease association. LoF is a mechanism of disease. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 18/06/2018 https://search.clinicalgenome.org/CCID:005939 Sources: ClinGen |
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