Activity
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6 actions
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| DDG2P v6.285 | PHC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PHC1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PHC1 | Achchuthan Shanmugasundram edited their review of gene: PHC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PHC1-related primary microcephaly are limited, biallelic_autosomal and undetermined (PMID:23418308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00227.; Changed phenotypes to: PHC1-related primary microcephaly, MONDO:0014173, PRIMARY MICROCEPHALY, OMIM:615414, OMIM:615414.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PHC1 | Achchuthan Shanmugasundram reviewed gene: PHC1: Rating: RED; Mode of pathogenicity: Other; Publications: 23418308; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PHC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PHC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PHC1 | Rebecca Foulger reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PHC1 |
Rebecca Foulger gene: PHC1 was added gene: PHC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHC1 were set to 23418308 Phenotypes for gene: PHC1 were set to PRIMARY MICROCEPHALY 615414 Mode of pathogenicity for gene: PHC1 was set to Other - please provide details in the comments |
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