Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.307 | PSMC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMC1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PSMC1 | Achchuthan Shanmugasundram edited their review of gene: PSMC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMC1-related neurodevelopmental disorder are limited, monoallelic_autosomal and undetermined (PMID:35861243). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03337.; Changed phenotypes to: MONDO:0700092, PSMC1-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMC1 | Achchuthan Shanmugasundram reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: Other; Publications: 35861243; Phenotypes: PSMC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PSMC1 |
Achchuthan Shanmugasundram gene: PSMC1 was added gene: PSMC1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PSMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC1 were set to 35861243 Phenotypes for gene: PSMC1 were set to PSMC1-related neurodevelopmental disorder Mode of pathogenicity for gene: PSMC1 was set to Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||