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  3. OSGEP
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Genetic Epilepsy

Gene: OSGEP

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

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Epilepsy reported in multiple individuals with Galloway-Mowat syndrome 3
Sources: Literature
Created: 18 Oct 2021, 1:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 3, MIM#617729

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Oct 2021, 1:12 a.m.

Panel version: 0.1317

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, 12:07 p.m. | Last Modified: 31 Aug 2020, 12:07 p.m.
Panel Version: 0.4045

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 3, MIM# 617729

Publications

Created: 31 Aug 2020, 12:07 p.m.
Last Modified: 31 Aug 2020, 12:07 p.m.
Panel version: Imported from Mendeliome panel version 0.4045

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

History Filter Activity

18 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Oct 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Belinda Chong (Victorian Clinical Genetics Services)

gene: OSGEP was added gene: OSGEP was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to PMID: 28805828; 33333793 Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM#617729 Review for gene: OSGEP was set to GREEN gene: OSGEP was marked as current diagnostic