Activity
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6 actions
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| DDG2P v6.36 | AGPS | Achchuthan Shanmugasundram Mode of pathogenicity for gene: AGPS was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | AGPS | Achchuthan Shanmugasundram edited their review of gene: AGPS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AGPS-related rhizomelic chondrodysplasia punctata are definitive, biallelic_autosomal and loss of function (PMIDs: 11152660, 21990100, 24849933, 35986576, 7807941). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00018.; Changed publications to: 7807941, 21990100, 35986576, 11152660, 24849933; Changed phenotypes to: MONDO:0010823, OMIM:600121.0, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3, OMIM:600121, AGPS-related rhizomelic chondrodysplasia punctata | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AGPS | Achchuthan Shanmugasundram reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11152660, 7807941; Phenotypes: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3, OMIM:600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AGPS |
Achchuthan Shanmugasundram Mode of pathogenicity for gene AGPS was changed from Other - please provide details in the comments to Other Publications for gene: AGPS were updated from 7807941; 11152660 to 11152660; 7807941 |
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| DDG2P v0.2 | AGPS | Rebecca Foulger reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AGPS |
Rebecca Foulger gene: AGPS was added gene: AGPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPS were set to 7807941; 11152660 Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121 Mode of pathogenicity for gene: AGPS was set to Other - please provide details in the comments |
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