Activity
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6 actions
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| DDG2P v6.288 | PIGV | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGV was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PIGV | Achchuthan Shanmugasundram edited their review of gene: PIGV: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGV-related hyperphosphatasia with intellectual developmental disorder are definitive, biallelic_autosomal and loss of function (PMIDs: 17351347, 20802478, 22228761, 33402532, 40799153). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00078.; Changed publications to: 17351347, 33402532, 20802478, 40799153, 22228761; Changed phenotypes to: OMIM:239300.0, HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:239300, PIGV-related hyperphosphatasia with intellectual developmental disorder, MONDO:0009398 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGV | Achchuthan Shanmugasundram reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17351347, 20802478; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGV | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGV was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGV | Rebecca Foulger reviewed gene: PIGV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIGV |
Rebecca Foulger gene: PIGV was added gene: PIGV was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGV were set to 17351347; 20802478 Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300 Mode of pathogenicity for gene: PIGV was set to Other - please provide details in the comments |
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