Callosome
Gene: IGBP1EnsemblGeneIds (GRCh38): ENSG00000089289
EnsemblGeneIds (GRCh37): ENSG00000089289
OMIM: 300139, Gene2Phenotype
IGBP1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family reported in 2003, no further reports.Created: 7 Feb 2020, 4:42 a.m. | Last Modified: 7 Feb 2020, 4:42 a.m.
Panel Version: 0.75
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, MIM# 300472
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
- OMIM
- 300139
- Clinvar variants
- Variants in IGBP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: igbp1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IGBP1 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: igbp1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IGBP1 was added gene: IGBP1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IGBP1 was set to Unknown