| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperammonaemia v1.0 | OTC | Gene migrated from ENSG00000036473 to ENSG00000036473 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperammonaemia v0.0 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OTC were set to 2983225 Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 |
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