Activity
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4 actions
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| DDG2P v6.321 | RNF125 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNF125 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RNF125 | Achchuthan Shanmugasundram edited their review of gene: RNF125: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNF125-related intellectual disability and macrocephaly are limited, monoallelic_autosomal and undetermined (PMIDs: 25196541, 34196401). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03221.; Changed phenotypes to: RNF125-related intellectual disability and macrocephaly, OMIM:616260, OMIM:616260.0, RNF125-related intellectual disability and macrocephaly, MONDO:0014553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNF125 | Achchuthan Shanmugasundram reviewed gene: RNF125: Rating: RED; Mode of pathogenicity: Other; Publications: 34196401, 25196541; Phenotypes: RNF125-related intellectual disability and macrocephaly, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RNF125 |
Achchuthan Shanmugasundram gene: RNF125 was added gene: RNF125 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF125 were set to 34196401; 25196541 Phenotypes for gene: RNF125 were set to RNF125-related intellectual disability and macrocephaly, OMIM:616260 Mode of pathogenicity for gene: RNF125 was set to Other |
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