Activity
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4 actions
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| DDG2P v6.324 | RPL13 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RPL13 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RPL13 | Achchuthan Shanmugasundram edited their review of gene: RPL13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RPL13-related spondyloepimetaphyseal dysplasia with severe short stature are limited, monoallelic_autosomal and undetermined (PMID:31630789). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02835.; Changed phenotypes to: Spondyloepimetaphyseal Dysplasia with Severe Short Stature, OMIM:618728.0, RPL13-related spondyloepimetaphyseal dysplasia with severe short stature, MONDO:0032885 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL13 | Achchuthan Shanmugasundram reviewed gene: RPL13: Rating: RED; Mode of pathogenicity: Other; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RPL13 |
Achchuthan Shanmugasundram gene: RPL13 was added gene: RPL13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL13 were set to 31630789 Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature Mode of pathogenicity for gene: RPL13 was set to Other |
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