Activity
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6 actions
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| DDG2P v6.274 | NR1I3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NR1I3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NR1I3 | Achchuthan Shanmugasundram edited their review of gene: NR1I3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NR1I3-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:22726846). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00508.; Changed publications to: 22726846; Changed phenotypes to: EHMT1-LIKE INTELLECTUAL DISABILITY, NR1I3-related intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NR1I3 | Achchuthan Shanmugasundram reviewed gene: NR1I3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NR1I3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NR1I3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NR1I3 | Rebecca Foulger reviewed gene: NR1I3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NR1I3 |
Rebecca Foulger gene: NR1I3 was added gene: NR1I3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NR1I3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR1I3 were set to EHMT1-LIKE INTELLECTUAL DISABILITY Mode of pathogenicity for gene: NR1I3 was set to Other - please provide details in the comments |
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