Activity
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6 actions
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| DDG2P v6.320 | RLIM | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RLIM was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RLIM | Achchuthan Shanmugasundram edited their review of gene: RLIM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RLIM-related intellectual disability are strong, monoallelic_X_hemizygous and undetermined (PMID:25644381). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02011.; Changed phenotypes to: RLIM-related intellectual disability, OMIM:300978.0, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0010506 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RLIM | Achchuthan Shanmugasundram reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RLIM |
Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM. Mode of pathogenicity for gene RLIM was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | RLIM | Rebecca Foulger reviewed gene: RLIM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RLIM |
Rebecca Foulger gene: RLIM was added gene: RLIM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RLIM were set to 25644381 Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: RLIM was set to Other - please provide details in the comments |
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