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Severe microcephaly

Gene: OSGEP

Amber List (moderate evidence)

OSGEP (O-sialoglycoprotein endopeptidase)
EnsemblGeneIds (GRCh38): ENSG00000092094
EnsemblGeneIds (GRCh37): ENSG00000092094
OMIM: 610107, Gene2Phenotype
OSGEP is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 14 Sep 2021, 2:53 p.m. | Last Modified: 14 Sep 2021, 2:53 p.m.
Panel Version: 2.228

Zornitza Stark (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.
Sources: Expert list
Created: 31 Aug 2020, 12:06 p.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 Amber
Phenotypes
  • Galloway-Mowat syndrome 3, OMIM:617729
Tags
Q3_21_rating
OMIM
610107
Clinvar variants
Variants in OSGEP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: OSGEP.

14 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: osgep has been classified as Amber List (Moderate Evidence).

14 Sep 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: OSGEP were changed from Galloway-Mowat syndrome 3, MIM# 617729 to Galloway-Mowat syndrome 3, OMIM:617729

31 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: OSGEP was added gene: OSGEP was added to Severe microcephaly. 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