Activity
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4 actions
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| DDG2P v6.303 | PRKACA | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKACA was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PRKACA | Achchuthan Shanmugasundram edited their review of gene: PRKACA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKACA-related multiple congenital malformation syndrome are strong, monoallelic_autosomal and undetermined (PMID:33058759). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03063.; Changed phenotypes to: PRKACA-related multiple congenital malformation syndrome, PRKACA-related Multiple Congenital Malformation Syndrome, OMIM:619142.0, MONDO:0030876 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKACA | Achchuthan Shanmugasundram reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACA-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRKACA |
Achchuthan Shanmugasundram gene: PRKACA was added gene: PRKACA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACA were set to 33058759 Phenotypes for gene: PRKACA were set to PRKACA-related Multiple Congenital Malformation Syndrome Mode of pathogenicity for gene: PRKACA was set to Other |
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