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Intellectual disability syndromic and non-syndromic

Gene: OSGEP

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

25 families reported.
Sources: Expert list
Created: 9 Feb 2020, 10:20 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 3, MIM# 617729
OMIM
610107
Clinvar variants
Variants in OSGEP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2020, 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).

9 Feb 2020, 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).

9 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OSGEP was added gene: OSGEP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to 28805828; 28272532 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