Ocular coloboma
Gene: IGBP1
IGBP1 (immunoglobulin binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000089289
EnsemblGeneIds (GRCh37): ENSG00000089289
OMIM: 300139, Gene2Phenotype
IGBP1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000089289
EnsemblGeneIds (GRCh37): ENSG00000089289
OMIM: 300139, Gene2Phenotype
IGBP1 is in 4 panels
1 review
Alice Gardham (Genomics England)
Only reported in two affected brothers. Mutation found in carrier mother but not her other male relatives. Recognised on G2P as causing colobomaCreated: 17 Nov 2016, 9:59 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472
Publications
Details
- Sources
-
- Literature
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472
- OMIM
- 300139
- Clinvar variants
- Variants in IGBP1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
6 Feb 2017, Gel status: 2
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
17 Nov 2016, Gel status: 2
Upload gene information
Alice Gardham (Genomics England)IGBP1 was added to Ocular colobomapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Literature
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)IGBP1 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen