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  2. Structural eye disease
  3. IGBP1
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Structural eye disease

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

One case published so far
Created: 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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). One case published so far
Created: 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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
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
OMIM
300139
Clinvar variants
Variants in IGBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

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

3 Jan 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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