Activity
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| DDG2P v6.211 | IGBP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: IGBP1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IGBP1 | Achchuthan Shanmugasundram edited their review of gene: IGBP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IGBP1-related agenesis of the corpus callosum with intellectual developmental disorder-ocular coloboma-micrognathia are limited, monoallelic_X_hemizygous and undetermined (PMID:23871722). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01025.; Changed phenotypes to: OMIM:300472.0, MONDO:0010333, IGBP1-related agenesis of the corpus callosum with intellectual developmental disorder-ocular coloboma-micrognathia, AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IGBP1 | Achchuthan Shanmugasundram reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: Other; Publications: 23871722; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IGBP1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IGBP1 was changed from Other - please provide details in the comments to Other Publications for gene: IGBP1 were updated from to 23871722 |
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| DDG2P v0.2 | IGBP1 | Rebecca Foulger reviewed gene: IGBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IGBP1 |
Rebecca Foulger gene: IGBP1 was added gene: IGBP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGBP1 were set to AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472 Mode of pathogenicity for gene: IGBP1 was set to Other - please provide details in the comments |
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