Activity
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6 actions
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| DDG2P v6.298 | POMP | Achchuthan Shanmugasundram Mode of pathogenicity for gene: POMP was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | POMP | Achchuthan Shanmugasundram edited their review of gene: POMP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POMP-related keratosis linearis with ichthyosis congenita and sclerosing keratoderma are limited, biallelic_autosomal and undetermined (PMID:20226437). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01501.; Changed phenotypes to: MONDO:0011169, POMP-related keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952.0, KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OMIM:601952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMP | Achchuthan Shanmugasundram reviewed gene: POMP: Rating: RED; Mode of pathogenicity: Other; Publications: 20226437; Phenotypes: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OMIM:601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POMP | Achchuthan Shanmugasundram Mode of pathogenicity for gene POMP was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POMP | Rebecca Foulger reviewed gene: POMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | POMP |
Rebecca Foulger gene: POMP was added gene: POMP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 20226437 Phenotypes for gene: POMP were set to KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952 Mode of pathogenicity for gene: POMP was set to Other - please provide details in the comments |
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