Activity
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8 actions
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| DDG2P v6.234 | LFNG | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LFNG was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LFNG | Achchuthan Shanmugasundram edited their review of gene: LFNG: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LFNG-related spondylocostal dysostosis are definitive, biallelic_autosomal and undetermined (PMIDs: 16385447, 22822384, 30531807, 37038048, 38565611). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01136.; Changed publications to: 30531807, 22822384, 37038048, 38565611, 16385447; Changed phenotypes to: LFNG-related spondylocostal dysostosis, MONDO:0012349, SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813, OMIM:609813.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.22 | LFNG | Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813 to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | LFNG | Achchuthan Shanmugasundram commented on gene: LFNG: The DDG2P confidence category for the disease SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 16385447). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LFNG | Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16385447; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LFNG | Achchuthan Shanmugasundram Mode of pathogenicity for gene LFNG was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LFNG | Rebecca Foulger reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LFNG |
Rebecca Foulger gene: LFNG was added gene: LFNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LFNG were set to 16385447 Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813 Mode of pathogenicity for gene: LFNG was set to Other - please provide details in the comments |
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