1. Panels
  2. DDG2P
  3. IGBP1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: IGBP1

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for IGBP1-related agenesis of the corpus callosum with intellectual developmental disorder-ocular coloboma-micrognathia are limited, monoallelic_X_hemizygous and undetermined (PMID:23871722). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01025.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472 is limited. The allelic requirement and mutation consequence are monoallelic_X_hem and uncertain (PMID:23871722).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
OMIM:300472.0; MONDO:0010333; IGBP1-related agenesis of the corpus callosum with intellectual developmental disorder-ocular coloboma-micrognathia; AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: uncertain.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

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

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: IGBP1 was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene IGBP1 was changed from Other - please provide details in the comments to Other Publications for gene: IGBP1 were updated from to 23871722

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: IGBP1 was added gene: IGBP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGBP1 were set to AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472 Mode of pathogenicity for gene: IGBP1 was set to Other - please provide details in the comments