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  3. IGBP1
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Intellectual_disability

Gene: IGBP1

Amber List (moderate evidence)
IGBP1 (immunoglobulin binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000089289
EnsemblGeneIds (GRCh37): ENSG00000089289
OMIM: 300139, Gene2Phenotype
IGBP1 is in 4 panels

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Radboud University Medical Center, Nijmegen
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472
OMIM
300139
Clinvar variants
Variants in IGBP1
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene IGBP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

IGBP1 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IGBP1 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen