| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.295 | PEPD | Bryony Thompson Marked gene: PEPD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.295 | PEPD | Bryony Thompson Gene: pepd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.295 | PEPD | Bryony Thompson Classified gene: PEPD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.295 | PEPD | Bryony Thompson Gene: pepd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.294 | PEPD |
Bryony Thompson gene: PEPD was added gene: PEPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 27604308; 2365824 Phenotypes for gene: PEPD were set to Prolidase deficiency MIM#170100; disorders of peptide metabolism Review for gene: PEPD was set to GREEN gene: PEPD was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Prolidase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of peptide metabolism. Sources: NHS GMS |
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