Activity
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6 actions
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| DDG2P v6.220 | KCNJ6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNJ6 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KCNJ6 | Achchuthan Shanmugasundram edited their review of gene: KCNJ6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNJ6-related Keppen-Lubinsky syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 25620207, 36071510). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00759.; Changed publications to: 36071510, 25620207; Changed phenotypes to: OMIM:614098.0, KEPPEN-LUBINSKY SYNDROME, OMIM:614098, KCNJ6-related Keppen-Lubinsky syndrome, MONDO:0013572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KCNJ6 | Achchuthan Shanmugasundram reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25620207, 36071510; Phenotypes: KEPPEN-LUBINSKY SYNDROME, OMIM:614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KCNJ6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ6. Mode of pathogenicity for gene KCNJ6 was changed from Other - please provide details in the comments to Other Publications for gene: KCNJ6 were updated from 25620207 to 25620207; 36071510 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | KCNJ6 | Rebecca Foulger reviewed gene: KCNJ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KCNJ6 |
Rebecca Foulger gene: KCNJ6 was added gene: KCNJ6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ6 were set to 25620207 Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME 614098 Mode of pathogenicity for gene: KCNJ6 was set to Other - please provide details in the comments |
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