Activity
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6 actions
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| DDG2P v6.308 | PSMC5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMC5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PSMC5 | Achchuthan Shanmugasundram edited their review of gene: PSMC5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMC5-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02898.; Changed phenotypes to: PSMC5-related developmental disorder (monoallelic), MONDO:0700092, PSMC5-related developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | PSMC5 | Eleanor Williams Tag gene-checked tag was added to gene: PSMC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | PSMC5 | Eleanor Williams commented on gene: PSMC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMC5 | Achchuthan Shanmugasundram reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: PSMC5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PSMC5 |
Achchuthan Shanmugasundram gene: PSMC5 was added gene: PSMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC5 were set to 33057194 Phenotypes for gene: PSMC5 were set to PSMC5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: PSMC5 was set to Other |
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