Activity
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6 actions
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| DDG2P v6.230 | LAGE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LAGE3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LAGE3 | Achchuthan Shanmugasundram edited their review of gene: LAGE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LAGE3-related Galloway-Mowat syndrome are limited, monoallelic_X_hemizygous and undetermined (PMID:28805828). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02821.; Changed phenotypes to: OMIM:301006.0, GALLOWAY-MOWAT SYNDROME 2, OMIM:301006, MONDO:0033006, LAGE3-related Galloway-Mowat syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LAGE3 | Achchuthan Shanmugasundram reviewed gene: LAGE3: Rating: RED; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: GALLOWAY-MOWAT SYNDROME 2, OMIM:301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LAGE3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene LAGE3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | LAGE3 | Rebecca Foulger reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | LAGE3 |
Rebecca Foulger gene: LAGE3 was added gene: LAGE3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAGE3 were set to 28805828 Phenotypes for gene: LAGE3 were set to GALLOWAY-MOWAT SYNDROME 2, 301006 Mode of pathogenicity for gene: LAGE3 was set to Other - please provide details in the comments |
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