1. Genes and Genomic Entities
  2. IGBP1

IGBP1

immunoglobulin binding protein 1
OMIM: 300139, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber IGBP1 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

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 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		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