Activity
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6 actions
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| DDG2P v6.215 | KBTBD13 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KBTBD13 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KBTBD13 | Achchuthan Shanmugasundram edited their review of gene: KBTBD13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KBTBD13-related nemaline myopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 12805120, 21104864, 21109227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00067.; Changed publications to: 21104864, 12805120, 21109227; Changed phenotypes to: OMIM:609273.0, KBTBD13-related nemaline myopathy, NEMALINE MYOPATHY 6, OMIM:609273, MONDO:0012237 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KBTBD13 | Achchuthan Shanmugasundram reviewed gene: KBTBD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21109227, 21104864, 12805120; Phenotypes: NEMALINE MYOPATHY 6, OMIM:609273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KBTBD13 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene KBTBD13 was changed from Other - please provide details in the comments to Other Publications for gene: KBTBD13 were updated from 21104864; 21109227; 12805120 to 21109227; 21104864; 12805120 |
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| DDG2P v0.2 | KBTBD13 | Rebecca Foulger reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KBTBD13 |
Rebecca Foulger gene: KBTBD13 was added gene: KBTBD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KBTBD13 were set to 21104864; 21109227; 12805120 Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6 609273 Mode of pathogenicity for gene: KBTBD13 was set to Other - please provide details in the comments |
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