Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.45 | ALPL | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALPL was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ALPL | Achchuthan Shanmugasundram edited their review of gene: ALPL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALPL-related hypophosphatasia are definitive, biallelic_autosomal and loss of function (PMIDs: 14982838, 3174660, 33093890, 33101980, 33160095). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00284.; Changed publications to: 33101980, 33160095, 14982838, 3174660, 33093890; Changed phenotypes to: MONDO:0018570, HYPOPHOSPHATASIA, OMIM:241500, ALPL-related hypophosphatasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALPL | Achchuthan Shanmugasundram reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 3174660; Phenotypes: HYPOPHOSPHATASIA, OMIM:241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ALPL | Achchuthan Shanmugasundram Mode of pathogenicity for gene ALPL was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.65 | ALPL | Sarah Leigh reviewed gene: ALPL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ALPL | Rebecca Foulger reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ALPL |
Rebecca Foulger gene: ALPL was added gene: ALPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPL were set to 3174660 Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA 241500 Mode of pathogenicity for gene: ALPL was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||