Activity
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6 actions
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| DDG2P v6.284 | PGAP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PGAP2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PGAP2 | Achchuthan Shanmugasundram edited their review of gene: PGAP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PGAP2-related intellectual disability are definitive, biallelic_autosomal and undetermined (PMIDs: 23561846, 23561847, 29119105). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00290.; Changed publications to: 23561847, 23561846, 29119105; Changed phenotypes to: OMIM:614207.0, PGAP2-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0013628 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PGAP2 | Achchuthan Shanmugasundram reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PGAP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene PGAP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PGAP2 | Rebecca Foulger reviewed gene: PGAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PGAP2 |
Rebecca Foulger gene: PGAP2 was added gene: PGAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: PGAP2 was set to Other - please provide details in the comments |
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