IGBP1

immunoglobulin binding protein 1
OMIM: 300139, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber IGBP1 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources Literature Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472
Red IGBP1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472
Red IGBP1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
Amber IGBP1 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Amber Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472