Activity
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6 actions
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| DDG2P v6.107 | CLDN19 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLDN19 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CLDN19 | Achchuthan Shanmugasundram edited their review of gene: CLDN19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLDN19-related hypomagnesemia with ocular involvement are definitive, biallelic_autosomal and undetermined (PMID:17033971). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00685.; Changed phenotypes to: OMIM:248190.0, MONDO:0009548, CLDN19-related hypomagnesemia with ocular involvement, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CLDN19 | Achchuthan Shanmugasundram reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17033971; Phenotypes: HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CLDN19 | Achchuthan Shanmugasundram Mode of pathogenicity for gene CLDN19 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CLDN19 | Rebecca Foulger reviewed gene: CLDN19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CLDN19 |
Rebecca Foulger gene: CLDN19 was added gene: CLDN19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 17033971 Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190 Mode of pathogenicity for gene: CLDN19 was set to Other - please provide details in the comments |
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