Activity
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4 actions
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| DDG2P v3.12 | GLUD1 | Achchuthan Shanmugasundram reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9571255, 11214910, 10636977; Phenotypes: HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OMIM:606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GLUD1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUD1 was changed from Other - please provide details in the comments to Other Publications for gene: GLUD1 were updated from 10636977; 11214910; 9571255 to 9571255; 11214910; 10636977 |
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| DDG2P v0.2 | GLUD1 | Rebecca Foulger reviewed gene: GLUD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GLUD1 |
Rebecca Foulger gene: GLUD1 was added gene: GLUD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GLUD1 were set to 10636977; 11214910; 9571255 Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762 Mode of pathogenicity for gene: GLUD1 was set to Other - please provide details in the comments |
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