Activity
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6 actions
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| DDG2P v6.175 | GCDH | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GCDH was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GCDH | Achchuthan Shanmugasundram edited their review of gene: GCDH: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GCDH-related glutaricacidemia are definitive, biallelic_autosomal and undetermined (PMIDs: 10699052, 11174631, 7795610, 8900227, 8900228). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00451.; Changed phenotypes to: GLUTARICACIDEMIA TYPE 1, OMIM:231670, GCDH-related glutaricacidemia, OMIM:231670.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GCDH | Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11174631, 8900228, 10699052, 7795610, 8900227; Phenotypes: GLUTARICACIDEMIA TYPE 1, OMIM:231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GCDH |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GCDH was changed from Other - please provide details in the comments to Other Publications for gene: GCDH were updated from 11174631; 8900227; 10699052; 7795610; 8900228 to 11174631; 8900228; 10699052; 7795610; 8900227 |
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| DDG2P v0.2 | GCDH | Rebecca Foulger reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GCDH |
Rebecca Foulger gene: GCDH was added gene: GCDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 11174631; 8900227; 10699052; 7795610; 8900228 Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1 231670 Mode of pathogenicity for gene: GCDH was set to Other - please provide details in the comments |
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