Activity
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6 actions
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| DDG2P v6.226 | KIRREL3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIRREL3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KIRREL3 | Achchuthan Shanmugasundram edited their review of gene: KIRREL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KIRREL3-related intellectual developmental disorder are limited, monoallelic_autosomal and undetermined (PMID:19012874). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00765.; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 4, OMIM:612581, KIRREL3-related intellectual developmental disorder, MONDO:0012947, OMIM:612581.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KIRREL3 | Achchuthan Shanmugasundram reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: Other; Publications: 19012874; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 4, OMIM:612581; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KIRREL3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene KIRREL3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIRREL3 | Rebecca Foulger reviewed gene: KIRREL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KIRREL3 |
Rebecca Foulger gene: KIRREL3 was added gene: KIRREL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIRREL3 were set to 19012874 Phenotypes for gene: KIRREL3 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581 Mode of pathogenicity for gene: KIRREL3 was set to Other - please provide details in the comments |
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