Activity
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6 actions
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| DDG2P v6.42 | ALDOA | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALDOA was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ALDOA | Achchuthan Shanmugasundram edited their review of gene: ALDOA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALDOA-related glycogen storage disease are definitive, biallelic_autosomal and undetermined (PMIDs: 2825199, 8598869). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00859.; Changed publications to: 8598869, 2825199; Changed phenotypes to: ALDOA-related glycogen storage disease, MONDO:0012747, OMIM:611881.0, GLYCOGEN STORAGE DISEASE XII, OMIM:611881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALDOA | Achchuthan Shanmugasundram reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 2825199, 8598869; Phenotypes: GLYCOGEN STORAGE DISEASE XII, OMIM:611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ALDOA |
Achchuthan Shanmugasundram Mode of pathogenicity for gene ALDOA was changed from Other - please provide details in the comments to Other Publications for gene: ALDOA were updated from 8598869; 2825199 to 2825199; 8598869 |
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| DDG2P v0.2 | ALDOA | Rebecca Foulger reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ALDOA |
Rebecca Foulger gene: ALDOA was added gene: ALDOA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOA were set to 8598869; 2825199 Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII 611881 Mode of pathogenicity for gene: ALDOA was set to Other - please provide details in the comments |
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