Activity
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6 actions
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| DDG2P v6.148 | DOLK | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DOLK was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DOLK | Achchuthan Shanmugasundram edited their review of gene: DOLK: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DOLK-related congenital disorder of glycosylation are definitive, biallelic_autosomal and undetermined (PMIDs: 17273964, 22242004). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00513.; Changed publications to: 17273964, 22242004; Changed phenotypes to: OMIM:610768.0, CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379, MONDO:0012556, DOLK-related congenital disorder of glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DOLK | Achchuthan Shanmugasundram reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22242004, 17273964; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DOLK |
Achchuthan Shanmugasundram Mode of pathogenicity for gene DOLK was changed from Other - please provide details in the comments to Other Publications for gene: DOLK were updated from 17273964; 22242004 to 22242004; 17273964 |
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| DDG2P v0.2 | DOLK | Rebecca Foulger reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DOLK |
Rebecca Foulger gene: DOLK was added gene: DOLK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 17273964; 22242004 Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Mode of pathogenicity for gene: DOLK was set to Other - please provide details in the comments |
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