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| Likely inborn error of metabolism - targeted testing not possible v2.83 | GLUD1 | Eleanor Williams Source: Expert Review Red was removed from gene: GLUD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | GLUD1 |
Ivone Leong Source NHS GMS was added to GLUD1. Source London North GLH was added to GLUD1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.25 | GLUD1 | Ellen McDonagh Added comment: Comment on mode of pathogenicity: Mutation consequence summary from G2P = activating. OMIM reports several missense variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.25 | GLUD1 | Ellen McDonagh Mode of pathogenicity for gene: GLUD1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | GLUD1 | Ellen McDonagh Added phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 for gene: GLUD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | GLUD1 |
Ellen McDonagh gene: GLUD1 was added gene: GLUD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLUD1 were set to 27604308 Phenotypes for gene: GLUD1 were set to Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias); Hyperinsulinism-hyperammonemia syndrome, 606762 |
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