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Intellectual disability

Gene: OSGEP

Green List (high evidence)

OSGEP (O-sialoglycoprotein endopeptidase)
EnsemblGeneIds (GRCh38): ENSG00000092094
EnsemblGeneIds (GRCh37): ENSG00000092094
OMIM: 610107, Gene2Phenotype
OSGEP is in 7 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases. Phenotype appropriate
Created: 6 Jul 2018, 9:04 a.m.
Sufficient cases, relevant phenotype
Created: 6 Jul 2018, 9:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 3 617729

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Galloway-Mowat syndrome 3, 617729
  • Intellectual disability
OMIM
610107
Clinvar variants
Variants in OSGEP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Aug 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729; Intellectual disability

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: 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 Intellectual disability panel. Sources: Literature

6 Jul 2018, Gel status: 1

Created

Helen Brittain (Genomics England Curator)

OSGEP was created by Helen Brittain