Proteinuria
Gene: OSGEP

OSGEP (O-sialoglycoprotein endopeptidase)
EnsemblGeneIds (GRCh38): ENSG00000092094
EnsemblGeneIds (GRCh37): ENSG00000092094
OMIM: 610107, Gene2Phenotype
OSGEP is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Over 25 families reported.
Created: 31 Aug 2020, 12:08 p.m. | Last Modified: 31 Aug 2020, 12:08 p.m.

Panel Version: 0.118

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 3, MIM# 617729

Publications

Created: 31 Aug 2020, 12:08 p.m.
Last Modified: 31 Aug 2020, 12:08 p.m.
Panel version: 0.118

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Galloway-Mowat syndrome 3, MIM# 617729

OMIM

610107

Clinvar variants

Variants in OSGEP

Penetrance

None

Publications

Panels with this gene