Activity
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6 actions
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| DDG2P v6.301 | PPP1CB | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPP1CB was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PPP1CB | Achchuthan Shanmugasundram edited their review of gene: PPP1CB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPP1CB-related rasopathy with developmental delay, short stature, and sparse slow-growing hair are definitive, monoallelic_autosomal and undetermined (PMID:27264673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01758.; Changed phenotypes to: MONDO:0054588, Rasopathy with developmental delay, short stature and sparse slow-growing hair, OMIM:617506.0, PPP1CB-related rasopathy with developmental delay, short stature, and sparse slow-growing hair | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PPP1CB | Achchuthan Shanmugasundram reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27264673; Phenotypes: Rasopathy with developmental delay, short stature and sparse slow-growing hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PPP1CB | Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP1CB was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PPP1CB | Rebecca Foulger reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PPP1CB |
Rebecca Foulger gene: PPP1CB was added gene: PPP1CB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27264673 Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair Mode of pathogenicity for gene: PPP1CB was set to Other - please provide details in the comments |
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