1. Panels
  2. Proteinuric renal disease
  3. OSGEP
STRs in panel
Prev Next
Regions in panel
Prev Next

Proteinuric renal disease

Gene: OSGEP

Green List (high evidence)
OSGEP (O-sialoglycoprotein endopeptidase)
EnsemblGeneIds (GRCh38): ENSG00000092094
EnsemblGeneIds (GRCh37): ENSG00000092094
OMIM: 610107, Gene2Phenotype
OSGEP is in 6 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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 variants
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 3 #617729

Publications

Created: 4 Feb 2019, 10:41 a.m.

Panel version: 1.16

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient cases, phenotype includes proteinuria and hypoalbuminaemia
Created: 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

Created: 6 Jul 2018, 9:13 a.m.

Panel version: 1.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Galloway-Mowat syndrome 3 617729
OMIM
610107
Clinvar variants
Variants in OSGEP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to OSGEP. Rating Changed from Green List (high evidence) to Green List (high evidence)

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: osgep has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: osgep has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

OSGEP was added to Proteinuric renal disease panel. Sources: Literature

6 Jul 2018, Gel status: 1

Created

Helen Brittain (Genomics England Curator)

OSGEP was created by Helen Brittain