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| Structural eye disease v0.76 | IGBP1 | Nicola Ragge reviewed gene: IGBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | IGBP1 | Ivone Leong reviewed gene: IGBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | IGBP1 |
Ivone Leong Source NHS GMS was added to IGBP1. Mode of inheritance for gene IGBP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472 for gene: IGBP1 Publications for gene IGBP1 were changed from to 14556245 |
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| Structural eye disease v0.2 | IGBP1 |
Ellen McDonagh gene: IGBP1 was added gene: IGBP1 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: IGBP1 was set to Phenotypes for gene: IGBP1 were set to Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472 |
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