IGBP1

immunoglobulin binding protein 1
OMIM: 300139, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red IGBP1 in Mendeliome Version 1.3795	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 Tags disputed
Red IGBP1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	2 reviews	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 Tags disputed
Red IGBP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 Tags disputed
Red IGBP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene Phenotypes Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Red IGBP1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia