Activity
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6 actions
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| DDG2P v6.305 | PRKD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKD1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PRKD1 | Achchuthan Shanmugasundram edited their review of gene: PRKD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKD1-related syndromic congenital heart defects are definitive, monoallelic_autosomal and undetermined (PMIDs: 27479907, 32817298, 36308391, 38677542). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01768.; Changed publications to: 27479907, 36308391, 32817298, 38677542; Changed phenotypes to: PRKD1-related syndromic congenital heart defects, Syndromic congenital heart defects, OMIM:617364.0, MONDO:0044303 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKD1 | Achchuthan Shanmugasundram reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Syndromic congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRKD1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKD1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PRKD1 | Rebecca Foulger reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PRKD1 |
Rebecca Foulger gene: PRKD1 was added gene: PRKD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects Mode of pathogenicity for gene: PRKD1 was set to Other - please provide details in the comments |
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