Activity
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8 actions
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| DDG2P v6.300 | PPFIA3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPFIA3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PPFIA3 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: PPFIA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PPFIA3 | Achchuthan Shanmugasundram edited their review of gene: PPFIA3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPFIA3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:38181735). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03539.; Changed phenotypes to: Paul-Chao neurodevelopmental syndrome, OMIM:621122, MONDO:1040014, PPFIA3-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | PPFIA3 | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: PPFIA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | PPFIA3 | Achchuthan Shanmugasundram edited their review of gene: PPFIA3: Changed phenotypes to: PPFIA3-related neurodevelopmental disorder, Paul-Chao neurodevelopmental syndrome, OMIM:621122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.13 | PPFIA3 | Arina Puzriakova Tag gene-checked tag was added to gene: PPFIA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PPFIA3 | Achchuthan Shanmugasundram reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38181735; Phenotypes: PPFIA3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | PPFIA3 |
Achchuthan Shanmugasundram gene: PPFIA3 was added gene: PPFIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPFIA3 were set to 38181735 Phenotypes for gene: PPFIA3 were set to PPFIA3-related neurodevelopmental disorder Mode of pathogenicity for gene: PPFIA3 was set to Other |
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