Activity
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6 actions
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| DDG2P v6.288 | PIGW | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGW was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PIGW | Achchuthan Shanmugasundram edited their review of gene: PIGW: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGW-related hyperphosphatasia with intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:24367057). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01699.; Changed phenotypes to: OMIM:616025.0, PIGW-related hyperphosphatasia with intellectual developmental disorder, HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 5, OMIM:616025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGW | Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: RED; Mode of pathogenicity: Other; Publications: 24367057; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 5, OMIM:616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGW | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGW was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGW | Rebecca Foulger reviewed gene: PIGW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIGW |
Rebecca Foulger gene: PIGW was added gene: PIGW was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025 Mode of pathogenicity for gene: PIGW was set to Other - please provide details in the comments |
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