Structural eye disease
Gene: IGBP1
One case published so farCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). One case published so farCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
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