| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.121 | PEPD | Zornitza Stark Marked gene: PEPD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.121 | PEPD | Zornitza Stark Gene: pepd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.121 | PEPD | Zornitza Stark Classified gene: PEPD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.121 | PEPD | Zornitza Stark Gene: pepd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.113 | PEPD |
Sangavi Sivagnanasundram gene: PEPD was added gene: PEPD was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 2365824; 19308961; 16470701 Phenotypes for gene: PEPD were set to Prolidase deficiency MONDO:0008221 Review for gene: PEPD was set to GREEN Added comment: Well established gene-disease association with >10 individuals reported with variants in PEPD and a clinical phenotype associated with prolidase deficiency. Prolidase deficiency is a classified inborn error of amino acid metabolism. LoF appears to be the mechanism of disease (https://search.clinicalgenome.org/CCID:007640) Sources: Other |
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