Proteinuric renal disease
Gene: OSGEP
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: OSGEP; Suggested initial gene rating: green; Evidence for inclusion: PMID: 28805828; Other comments: 22 unrelated families reported in PMID 28805828 with Galloway-Mowat syndrome and AR OSGEP variantsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 #617729
Publications
Comment on list classification: Sufficient cases, phenotype includes proteinuria and hypoalbuminaemiaCreated: 6 Jul 2018, 9:14 a.m.
Severe syndromic cause of nephrotic syndrome; a/w ID, microcephaly and gyral anomalies.Created: 6 Jul 2018, 9:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 617729
Publications
Source NHS GMS was added to OSGEP. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: osgep has been classified as Green List (High Evidence).
Gene: osgep has been classified as Green List (High Evidence).
OSGEP was added to Proteinuric renal disease panel. Sources: Literature
OSGEP was created by Helen Brittain