Lissencephaly and Band Heterotopia
Gene: OSGEPEnsemblGeneIds (GRCh38): ENSG00000092094
EnsemblGeneIds (GRCh37): ENSG00000092094
OMIM: 610107, Gene2Phenotype
OSGEP is in 10 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655). Another reports describes OSGEP mutations in multiple individuals, with at least three reported as having pachygyria (PMID:28805828).
Sources: LiteratureCreated: 26 Aug 2020, 1:07 a.m. | Last Modified: 26 Aug 2020, 1:12 a.m.
Panel Version: 0.60
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3, MIM#617729
Publications
- PMID: 30558655
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Galloway-Mowat syndrome 3, MIM#617729
- OMIM
- 610107
- Clinvar variants
- Variants in OSGEP
- Penetrance
- Complete
- Publications
-
- PMID: 30558655
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: osgep has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: osgep has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Naomi Baker (Victorian Clinical Genetics Services)gene: OSGEP was added gene: OSGEP was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to PMID: 30558655 Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM#617729 Penetrance for gene: OSGEP were set to Complete Review for gene: OSGEP was set to GREEN