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| DDG2P v6.324 | RPL10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RPL10 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RPL10 | Achchuthan Shanmugasundram edited their review of gene: RPL10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RPL10-related syndromic intellectual developmental disorder are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 25316788, 25846674, 26290468, 29066376, 35876338). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03002.; Changed publications to: 26290468, 35876338, 25846674, 29066376, 25316788; Changed phenotypes to: RPL10-related syndromic intellectual developmental disorder, MONDO:0030908, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998, OMIM:300998.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL10 | Achchuthan Shanmugasundram reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25846674, 29066376, 35876338, 25316788, 26290468; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RPL10 |
Achchuthan Shanmugasundram gene: RPL10 was added gene: RPL10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25846674; 29066376; 35876338; 25316788; 26290468 Phenotypes for gene: RPL10 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998 Mode of pathogenicity for gene: RPL10 was set to Other |
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