Activity
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6 actions
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| DDG2P v6.280 | P4HB | Achchuthan Shanmugasundram Mode of pathogenicity for gene: P4HB was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | P4HB | Achchuthan Shanmugasundram edited their review of gene: P4HB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for P4HB-related Cole-Carpenter syndrome are strong, monoallelic_autosomal and undetermined (PMID:25683117). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00895.; Changed phenotypes to: COLE-CARPENTER SYNDROME, OMIM:112240, OMIM:112240.0, MONDO:0007204, P4HB-related Cole-Carpenter syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | P4HB | Achchuthan Shanmugasundram reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25683117; Phenotypes: COLE-CARPENTER SYNDROME, OMIM:112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | P4HB |
Achchuthan Shanmugasundram Source Expert Review Green was added to P4HB. Mode of pathogenicity for gene P4HB was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | P4HB | Rebecca Foulger reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | P4HB |
Rebecca Foulger gene: P4HB was added gene: P4HB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: P4HB were set to 25683117 Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME 112240 Mode of pathogenicity for gene: P4HB was set to Other - please provide details in the comments |
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