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  2. Malformations of cortical development
  3. OSGEP
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Malformations of cortical development

Gene: OSGEP

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

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient cases, relevant phenotype
Created: 6 Jul 2018, 9:11 a.m.
Sufficient numbers, gyral abnormalities noted in several cases
Created: 6 Jul 2018, 9:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 3 617729

Publications

Created: 6 Jul 2018, 9:11 a.m.

Panel version: 1.150

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

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 Malformations of cortical development panel. Sources: Literature

6 Jul 2018, Gel status: 1

Created

Helen Brittain (Genomics England Curator)

OSGEP was created by Helen Brittain