Activity
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| DDG2P v6.304 | PRKACB | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKACB was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PRKACB | Achchuthan Shanmugasundram edited their review of gene: PRKACB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKACB-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/G2P03064.; Changed phenotypes to: MONDO:0030877, OMIM:619143.0, PRKACB-related multiple congenital malformation syndrome, PRKACB-related Multiple Congenital Malformation Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PRKACB | Achchuthan Shanmugasundram reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACB-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRKACB |
Achchuthan Shanmugasundram gene: PRKACB was added gene: PRKACB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to PRKACB-related Multiple Congenital Malformation Syndrome Mode of pathogenicity for gene: PRKACB was set to Other |
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